HGMD

Names
More detailed information about this field from each metasource.

HGMD
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:08.071742

hgmd
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:08.071742

Other names: hgmd

The Human Gene Mutation Database (HGMD) - comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. It is a flexible resource that can be adapted to a broad range of applications including searching for an overview of known mutations associated with a particular disease, interpreting clinical test results or looking for the likely causal mutation in a list of variants.

Webpage:

http://www.hgmd.org

Publications:

Publications
More detailed information about this field from each metasource.

Human Gene Mutation Database (HGMD): 2003 update
PMID: 12754702
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:08.071742

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
PMID: 24077912
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:08.071742

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
PMID: 28349240
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:08.071742

The Human Gene Mutation Database: 2008 update
PMID: 19348700
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:08.071742

Human Gene Mutation Database: towards a comprehensive central mutation database
PMID: 18245393
metasource: bio.tools
version: extracted_at: 2022-11-04T11:24:08.071742

Human Gene Mutation Database (HGMD): 2003 update PubMed citations: 639.

639 articles citing: Human Gene Mutation Database (HGMD): 2003 update

Rare and population-specific functional variation across pig lines. PMID:35659233
Ferroptosis and Apoptosis Are Involved in the Formation of L-Selenomethionine-Induced Ocular Defects in Zebrafish Embryos. PMID:35563172
Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease. PMID:35549688
In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology. PMID:35456504
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. PMID:35456481
Clinical Sphingolipids Pathway in Parkinson's Disease: From GCase to Integrated-Biomarker Discovery. PMID:35456032
Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1. PMID:35402355
Dynamic coupling of residues within proteins as a mechanistic foundation of many enigmatic pathogenic missense variants. PMID:35389981
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene. PMID:35379233
Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability. PMID:35330501
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene. PMID:35316504
Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene. PMID:35315254
Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations. PMID:35294702
Association study of CLDN14 variations in patients with kidney stones. PMID:35291565
LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3. PMID:35241752
Impact of Single Amino Acid Substitutions in Parkinsonism-Associated Deglycase-PARK7 and Their Association with Parkinson's Disease. PMID:35207708
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders. PMID:35183220
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss. PMID:35182233
Mutational analysis of driver genes defines the colorectal adenoma: in situ carcinoma transition. PMID:35173208
Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases. PMID:35144616
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases. PMID:35134823
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY. PMID:35108381
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations. PMID:35086560
Analytical Validation and Performance of a 7-Gene Next-Generation Sequencing Panel in Uveal Melanoma. PMID:35083209
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant. PMID:35031858
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. PMID:35020051
Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study. PMID:35017251
Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience. PMID:34993563
Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective. PMID:34923986
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report. PMID:34863162
A 1-year and 4-month-old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia. PMID:34849229
A 3D structural SARS-CoV-2-human interactome to explore genetic and drug perturbations. PMID:34845387
PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family. PMID:34837689
Prediction of functional microexons by transfer learning. PMID:34836511
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. PMID:34816580
Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing. PMID:34805285
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency. PMID:34804114
Modifier Role of Common RET Variants in Sporadic Medullary Thyroid Carcinoma. PMID:34769224
Disease-associated human genetic variation through the lens of precursor and mature RNA structure. PMID:34741198
Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021. PMID:34709306
Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia. PMID:34684072
Porphyrias in the Age of Targeted Therapies. PMID:34679493
Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family. PMID:34641644
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase. PMID:34636997
Exome Sequencing of Pancreatic Acinar Carcinoma Identified Distinctive Mutation Patterns. PMID:34629449
SYN1 Mutation Causes X-Linked Toothbrushing Epilepsy in a Chinese Family. PMID:34616357
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies. PMID:34588515
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients. PMID:34573316
Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation. PMID:34544414
Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74. PMID:34539760
Pseudohomozygous dysfibrinogenemia. PMID:34458664
Biallelic PI4KA variants cause neurological, intestinal and immunological disease. PMID:34415310
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis. PMID:34390440
P2T2: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants. PMID:34377961
Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis. PMID:34349782
Hedgehog/GLI Signaling Pathway: Transduction, Regulation, and Implications for Disease. PMID:34298625
Retinoblastoma genetics screening and clinical management. PMID:34294096
Splicing in the Diagnosis of Rare Disease: Advances and Challenges. PMID:34276790
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints. PMID:34270679
Altered Bone Status in Rett Syndrome. PMID:34205017
Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease. PMID:34204583
The effect of protein mutations on drug binding suggests ensuing personalised drug selection. PMID:34188094
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study. PMID:34145886
Central Nervous System Hemangioblastoma in a Pediatric Patient Associated With Von Hippel-Lindau Disease: A Case Report and Literature Review. PMID:34109129
Network medicine links SARS-CoV-2/COVID-19 infection to brain microvascular injury and neuroinflammation in dementia-like cognitive impairment. PMID:34108016
Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma. PMID:34095712
Different Clinical Manifestations Related to Subvirilization in Three XY Patients With the Same Pathogenic Variant of Steroidogenic Factor 1. PMID:34095474
Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1. PMID:34080803
Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports. PMID:34020699
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant. PMID:34014443
How Transmembrane Inner Ear (TMIE) plays role in the auditory system: A mystery to us. PMID:33987950
Structure of the murine lysosomal multienzyme complex core. PMID:33980489
Genetic investigations of 100 inherited cardiac disease-related genes in deceased individuals with schizophrenia. PMID:33973092
Whole-genome sequencing. PMID:33972362
The Present and Future Challenges of Wilson's Disease Diagnosis and Treatment. PMID:33968387
Neutrophil Elastase Defects in Congenital Neutropenia. PMID:33968054
Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation. PMID:33884299
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants. PMID:33851121
Network medicine links SARS-CoV-2/COVID-19 infection to brain microvascular injury and neuroinflammation in dementia-like cognitive impairment. PMID:33791705
A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy. PMID:33783721
ATAV: a comprehensive platform for population-scale genomic analyses. PMID:33757430
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. PMID:33680884
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome. PMID:33640901
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes. PMID:33552729
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction. PMID:33546721
In-depth and 3-dimensional exploration of the budding yeast phosphoproteome. PMID:33491328
The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients. PMID:33477506
Genetic characterization of the Albanian Gaucher disease patient population. PMID:33473340
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals. PMID:33452237
X-linked dominant RPGR gene mutation in a familial Coats angiomatosis. PMID:33446141
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. PMID:33439542
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing. PMID:33436942
Long-Term Dietary Changes in Subjects with Glucose Galactose Malabsorption Secondary to Biallelic Mutations of SLC5A1. PMID:33433815
A review of computational drug repositioning: strategies, approaches, opportunities, challenges, and directions. PMID:33431024
Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19. PMID:33398295
Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report. PMID:33346999
Assessing the Role of Rare Genetic Variation in Patients With Heart Failure. PMID:33326012
Genetic testing of hereditary antithrombin deficiency in a large US pedigree using saliva samples. PMID:33220012
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss. PMID:33205915
Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile. PMID:33188256
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. PMID:33168985
A network medicine approach to investigation and population-based validation of disease manifestations and drug repurposing for COVID-19. PMID:33156843
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. PMID:33138774
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities. PMID:33110267
Application of BERT to Enable Gene Classification Based on Clinical Evidence. PMID:33083472
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. PMID:33083013
Conditional deletion of SMN in cell culture identifies functional SMN alleles. PMID:33075805
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement. PMID:33059708
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions. PMID:33046849
Elevated Leukodystrophy Incidence Predicted From Genomics Databases. PMID:32951664
Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy. PMID:32916281
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. PMID:32911714
Analysis of APPL1 Gene Polymorphisms in Patients with a Phenotype of Maturity Onset Diabetes of the Young. PMID:32854233
Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling. PMID:32853466
A novel homozygous KY variant causing a complex neurological disorder. PMID:32818658
Structural basis for amino acid exchange by a human heteromeric amino acid transporter. PMID:32817565
Genomic Analysis of Localized High-Risk Prostate Cancer Circulating Tumor Cells at the Single-Cell Level. PMID:32784507
The role of exome sequencing in newborn screening for inborn errors of metabolism. PMID:32778825
X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases. PMID:32774386
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report. PMID:32746785
Genetics of extreme human longevity to guide drug discovery for healthy ageing. PMID:32719537
Cross-species regulatory sequence activity prediction. PMID:32687525
A Network Medicine Approach to Investigation and Population-based Validation of Disease Manifestations and Drug Repurposing for COVID-19. PMID:32676577
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit. PMID:32668698
An Angelman syndrome substitution in the HECT E3 ubiquitin ligase C-terminal Lobe of E6AP affects protein stability and activity. PMID:32639967
The frontiers of sequencing in undiagnosed neurodevelopmental diseases. PMID:32599523
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes. PMID:32591344
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family. PMID:32519820
Mutational bias and the protein code shape the evolution of splicing enhancers. PMID:32504065
Familial Partial Lipodystrophy (FPLD): Recent Insights. PMID:32440182
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis. PMID:32393352
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report. PMID:32362910
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome. PMID:32321550
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. PMID:32293553
Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes. PMID:32278834
Inherited iron overload disorders. PMID:32258529
Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia. PMID:32258232
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report. PMID:32256517
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome. PMID:32256298
Dent disease: classification, heterogeneity and diagnosis. PMID:32248351
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq. PMID:32225167
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. PMID:32214227
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families. PMID:32209057
A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2). PMID:32181232
TWIST1 Homodimers and Heterodimers Orchestrate Lineage-Specific Differentiation. PMID:32179550
Frameshifting preserves key physicochemical properties of proteins. PMID:32127487
von Hippel-Lindau Syndrome: Genetic Study of Case With a Rare Pathogenic Variant With Optic Nerve Hemangioblastoma, a Rare Phenotypic Expression. PMID:32117777
Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA Sequencing. PMID:32067438
Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome. PMID:32038717
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations. PMID:32026663
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies. PMID:32010054
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase. PMID:32000841
Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family. PMID:31994352
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. PMID:31970803
Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis. PMID:31944631
Current genetic landscape in common variable immune deficiency. PMID:31942606
A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report. PMID:31929873
Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family. PMID:31923348
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches. PMID:31896778
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape. PMID:31892318
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4. PMID:31877759
Identification of pathogenic variant enriched regions across genes and gene families. PMID:31871067
A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome. PMID:31864146
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease. PMID:31824610
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population. PMID:31796081
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing. PMID:31779139
Live birth in male de novo Kallmann syndrome after cross-generational genetic sequencing. PMID:31741254
Enriching Human Interactome with Functional Mutations to Detect High-Impact Network Modules Underlying Complex Diseases. PMID:31731769
Targeted molecular genetic testing in young sudden cardiac death victims from Western Denmark. PMID:31729605
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. PMID:31675503
Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations. PMID:31666973
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. PMID:31649718
VarSight: prioritizing clinically reported variants with binary classification algorithms. PMID:31615419
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. PMID:31607746
Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient. PMID:31527204
Transcription Factor-Directed Re-wiring of Chromatin Architecture for Somatic Cell Nuclear Reprogramming toward trans-Differentiation. PMID:31519520
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. PMID:31508908
Exome sequencing of Saudi Arabian patients with ADPKD. PMID:31488014
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity. PMID:31468281
Glucocerebrosidase and its relevance to Parkinson disease. PMID:31464647
Application of ACMG criteria to classify variants in the human gene mutation database. PMID:31451714
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex. PMID:31374812
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016. PMID:31342580
CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation. PMID:31317604
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. PMID:31298765
Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis. PMID:31291970
Biochemical Markers for the Diagnosis and Monitoring of Wilson Disease. PMID:31205375
Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing? PMID:31179125
MTR-Viewer: identifying regions within genes under purifying selection. PMID:31170280
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. PMID:31144778
Clinical utility of custom-designed NGS panel testing in pediatric tumors. PMID:31133068
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome. PMID:31124294
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. PMID:31114901
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy. PMID:31110529
Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight. PMID:31104630
CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum. PMID:31103025
Predicting the impact of single nucleotide variants on splicing via sequence-based deep neural networks and genomic features. PMID:31090248
GIDB: a knowledge database for the automated curation and multidimensional analysis of molecular signatures in gastrointestinal cancer. PMID:31089686
A functional assay to classify ZBTB24 missense variants of unknown significance. PMID:31066130
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants. PMID:31063852
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. PMID:31044088
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. PMID:31025394
A Comprehensive Drosophila melanogaster Transcription Factor Interactome. PMID:30995488
A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. PMID:30973918
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals. PMID:30887117
Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness. PMID:30881389
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children. PMID:30778115
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing. PMID:30760895
Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. PMID:30715179
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. PMID:30704898
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. PMID:30591557
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency. PMID:30570712
Significance of Cholesterol-Binding Motifs in ABCA1, ABCG1, and SR-B1 Structure. PMID:30519876
Integrated genome sizing (IGS) approach for the parallelization of whole genome analysis. PMID:30509173
High-frequency actionable pathogenic exome variants in an average-risk cohort. PMID:30487145
Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene? PMID:30421357
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. PMID:30409984
CADD: predicting the deleteriousness of variants throughout the human genome. PMID:30371827
Why SNP rs227584 is associated with human BMD and fracture risk? A molecular and cellular study in bone cells. PMID:30370607
Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk. PMID:30318341
Germline Mutations in ATM and BRCA1/2 Are Associated with Grade Reclassification in Men on Active Surveillance for Prostate Cancer. PMID:30309687
Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A. PMID:30282619
Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes. PMID:30135625
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes. PMID:30128325
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. PMID:30118150
Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis. PMID:30094188
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease. PMID:30087448
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. PMID:30086788
A multi-omic atlas of the human frontal cortex for aging and Alzheimer's disease research. PMID:30084846
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort. PMID:30060493
Defects of splicing in antithrombin deficiency. PMID:30046692
Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes. PMID:30046645
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease. PMID:30029678
Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias. PMID:30027898
Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis. PMID:29995946
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence. PMID:29979746
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. PMID:29909963
A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review. PMID:29901124
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants. PMID:29874871
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. PMID:29754767
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. PMID:29631995
Computational modeling suggests impaired interactions between NKX2.5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2.5 mutation. PMID:29568389
A comprehensive catalog of predicted functional upstream open reading frames in humans. PMID:29562350
Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer. PMID:29531238
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy. PMID:29531232
Brain region-specific expression of genes mapped within quantitative trait loci for behavioral responsiveness to acute stress in Fisher 344 and Wistar Kyoto male rats. PMID:29529077
The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families. PMID:29511501
The human noncoding genome defined by genetic diversity. PMID:29483654
Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures. PMID:29455857
Rett syndrome: a neurological disorder with metabolic components. PMID:29445033
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. PMID:29389922
Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias. PMID:29343803
Gene-Specific Variant Classifier (DPYD-Varifier) to Identify Deleterious Alleles of Dihydropyrimidine Dehydrogenase. PMID:29327356
Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny. PMID:29215096
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. PMID:29214177
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. PMID:29207974
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis. PMID:29202719
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. PMID:29192238
A study of splicing mutations in disorders of sex development. PMID:29176693
Organoids model distinct Vitamin E effects at different stages of prostate cancer evolution. PMID:29176677
Genetic Insights into Cerebrovascular Disorders: A Comprehensive Review. PMID:29163746
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. PMID:29144510
MultitaskProtDB-II: an update of a database of multitasking/moonlighting proteins. PMID:29136215
An RNA structure-mediated, posttranscriptional model of human α-1-antitrypsin expression. PMID:29109288
Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease. PMID:29023266
Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations. PMID:28939980
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. PMID:28927399
Understanding mutational effects in digenic diseases. PMID:28911095
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation. PMID:28864458
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas. PMID:28780672
Asparagine Synthetase deficiency-report of a novel mutation and review of literature. PMID:28776279
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. PMID:28771251
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency. PMID:28747913
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms in IL8 gene. PMID:28747718
Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme. PMID:28715844
Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology. PMID:28703315
The effects of structure on pre-mRNA processing and stability. PMID:28595983
Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability. PMID:28591191
Comparative analysis of genes frequently regulated by drugs based on connectivity map transcriptome data. PMID:28575118
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening. PMID:28546993
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges. PMID:28544272
Identifying pathogenicity of human variants via paralog-based yeast complementation. PMID:28542158
Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease. PMID:28533356
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics. PMID:28511696
DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins. PMID:28498993
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. PMID:28497567
Leveraging multiple genomic data to prioritize disease-causing indels from exome sequencing data. PMID:28496131
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis. PMID:28473699
Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome. PMID:28458664
Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway. PMID:28422189
Pathogenic variants that alter protein code often disrupt splicing. PMID:28416821
Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach. PMID:28410371
Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications. PMID:28405885
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. PMID:28397838
Lessons from the CAGI-4 Hopkins clinical panel challenge. PMID:28397312
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. PMID:28396517
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders. PMID:28361054
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population. PMID:28286897
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. PMID:28263302
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. PMID:28251733
Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing. PMID:28231257
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. PMID:28229249
Large-Scale Analysis of CRISPR/Cas9 Cell-Cycle Knockouts Reveals the Diversity of p53-Dependent Responses to Cell-Cycle Defects. PMID:28216383
High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine. PMID:28213901
nala: text mining natural language mutation mentions. PMID:28200120
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols. PMID:28188534
Global inference of disease-causing single nucleotide variants from exome sequencing data. PMID:28155632
Computational predictors fail to identify amino acid substitution effects at rheostat positions. PMID:28134345
Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death. PMID:27989354
Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes. PMID:27939638
Netherton Syndrome: A Genotype-Phenotype Review. PMID:27905021
Genetics and genomic medicine in Morocco: the present hope can make the future bright. PMID:27896281
Oriented Membrane Protein Reconstitution into Tethered Lipid Membranes for AFM Force Spectroscopy. PMID:27806274
A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF). PMID:27734333
Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting. PMID:27650965
High-throughput discovery of novel developmental phenotypes. PMID:27626380
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia. PMID:27617160
Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice. PMID:27605180
Integrated network analysis reveals distinct regulatory roles of transcription factors and microRNAs. PMID:27604961
G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures. PMID:27565432
Is Symptomatic Long QT Syndrome Associated with Depression in Women and Men? PMID:27553078
Gene-Disease Interaction Retrieval from Multiple Sources: A Network Based Method. PMID:27478829
Type 2 diabetes: genetic data sharing to advance complex disease research. PMID:27402621
Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency. PMID:27379089
Clinical Features, Treatments, and Outcomes of Patients with Thymic Carcinoids and Multiple Endocrine Neoplasia Type 1 Syndrome at MD Anderson Cancer Center. PMID:27311764
Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. PMID:27270698
Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome. PMID:27247567
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function. PMID:27227676
Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging. PMID:27214836
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing. PMID:27175728
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. PMID:27153395
StructMAn: annotation of single-nucleotide polymorphisms in the structural context. PMID:27150811
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer. PMID:27084275
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. PMID:27067391
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. PMID:27004399
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved? PMID:26988438
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. PMID:26963954
Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant. PMID:26937401
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. PMID:26888179
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. PMID:26842889
Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia. PMID:26770560
Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia. PMID:26755827
Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation. PMID:26734137
In Silico Functional Annotation of Genomic Variation. PMID:26724722
Dintor: functional annotation of genomic and proteomic data. PMID:26691694
Ensembl 2016. PMID:26687719
The promise and peril of genomic screening in the general population. PMID:26540154
Transgenic Wuzhishan minipigs designed to express a dominant-negative porcine growth hormone receptor display small stature and a perturbed insulin/IGF-1 pathway. PMID:26510874
Newborn screening and the era of medical genomics. PMID:26499764
A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. PMID:26472407
Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data. PMID:26459872
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients. PMID:26437850
Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing. PMID:26423924
Next-generation sequencing of 100 candidate genes in young victims of suspected sudden cardiac death with structural abnormalities of the heart. PMID:26383259
Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. PMID:26350513
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. PMID:26350204
Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene. PMID:26334996
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples. PMID:26257771
Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma. PMID:26230854
Detection and characterization of small insertion and deletion genetic variants in modern layer chicken genomes. PMID:26227840
Single-Nucleotide Polymorphisms on the RYD5 Gene in Nasal Polyposis. PMID:26204469
Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature. PMID:26199800
Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease. PMID:26193622
Targeted Sequencing Reveals Large-Scale Sequence Polymorphism in Maize Candidate Genes for Biomass Production and Composition. PMID:26151830
Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis. PMID:26107955
Response to Heller and Bolz. PMID:26035800
Multiple conformations are a conserved and regulatory feature of the RB1 5' UTR. PMID:25999316
Comprehensively evaluating cis-regulatory variation in the human prostate transcriptome by using gene-level allele-specific expression. PMID:25983244
A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family. PMID:25976645
Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. PMID:25928201
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations. PMID:25928149
Characterization and identification of hidden rare variants in the human genome. PMID:25903059
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? PMID:25898921
A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia. PMID:25878670
Difficulties in diagnosing Marfan syndrome using current FBN1 databases. PMID:25812041
Adaptive Evolution as a Predictor of Species-Specific Innate Immune Response. PMID:25758009
A systematic approach to the reporting of medically relevant findings from whole genome sequencing. PMID:25714468
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. PMID:25700176
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. PMID:25590979
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. PMID:25569433
TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease. PMID:25566323
Conformational dynamics of nonsynonymous variants at protein interfaces reveals disease association. PMID:25546381
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. PMID:25536396
Alternative splicing of DNA damage response genes and gastrointestinal cancers. PMID:25516641
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. PMID:25474345
Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases. PMID:25467552
Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects. PMID:25399050
Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy. PMID:25398255
Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue? PMID:25374765
Common mutation causes cystinosis in the majority of black South African patients. PMID:25326109
FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer. PMID:25273974
Return of Results from Genomic Sequencing: A Policy Discussion of Secondary Findings for Cancer Predisposition. PMID:25229012
In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. PMID:25153125
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. PMID:25136813
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. PMID:25119684
The dynamic exome: acquired variants as individuals age. PMID:25063753
GWAS and drug targets. PMID:25057111
Variant detection sensitivity and biases in whole genome and exome sequencing. PMID:25038816
The role of kras mutations and MSI status in diagnosis of colorectal cancer. PMID:24834160
Why human disease-associated residues appear as the wild-type in other species: genome-scale structural evidence for the compensation hypothesis. PMID:24723421
Genome-scale sequencing to identify genes involved in Mendelian disorders. PMID:24510651
Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours. PMID:24466223
Quantitative prediction of the effect of genetic variation using hidden Markov models. PMID:24405700
A review of post-GWAS prioritization approaches. PMID:24367376
Ensembl 2014. PMID:24316576
VarRanker: rapid prioritization of sequence variations associated with human disease. PMID:24268183
Using exome data to identify malignant hyperthermia susceptibility mutations. PMID:24195946
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. PMID:24154662
Familial adenomatous polyposis of the colon. PMID:24148210
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. PMID:24140114
Genetic and functional analyses of ZIC3 variants in congenital heart disease. PMID:24123890
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease. PMID:24070122
Functional analysis of 11 novel GBA alleles. PMID:24022302
Prediction of disease causing non-synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP. PMID:23935863
The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility. PMID:23860041
Collective judgment predicts disease-associated single nucleotide variants. PMID:23819846
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. PMID:23812910
Dissecting disease inheritance modes in a three-dimensional protein network challenges the "guilt-by-association" principle. PMID:23791107
Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia. PMID:23754170
Sequencing studies in human genetics: design and interpretation. PMID:23752795
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. PMID:23661369
Chapter 15: disease gene prioritization. PMID:23633938
Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity. PMID:23616257
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K). PMID:23614116
Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors. PMID:23592311
Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis. PMID:23573385
Extrapolating the effect of deleterious nsSNPs in the binding adaptability of flavopiridol with CDK7 protein: a molecular dynamics approach. PMID:23561625
Fine-scale signatures of molecular evolution reconcile models of indel-associated mutation. PMID:23558593
DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels. PMID:23497682
Gene therapy for Canavan's disease takes a step forward. PMID:23449107
Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases. PMID:23431257
Chitotriosidase deficiency: a mutation update in an african population. PMID:23430794
A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells. PMID:23426818
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period. PMID:23343000
HGV2012: leveraging next-generation technology and large datasets to advance disease research. PMID:23315969
Ensembl 2013. PMID:23203987
Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes. PMID:23139742
An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays. PMID:23137569
Predicting the functional effect of amino acid substitutions and indels. PMID:23056405
Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches. PMID:22956155
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. PMID:22842232
Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation. PMID:22829731
Computational tools for prioritizing candidate genes: boosting disease gene discovery. PMID:22751426
Large-scale mapping of branchpoints in human pre-mRNA transcripts in vivo. PMID:22705790
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. PMID:22703879
CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources. PMID:22693220
SIFT web server: predicting effects of amino acid substitutions on proteins. PMID:22689647
Novel pathogenic mutations in the glucocerebrosidase locus. PMID:22658918
The role of protein structural analysis in the next generation sequencing era. PMID:22610134
Paralogous annotation of disease-causing variants in long QT syndrome genes. PMID:22581653
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis. PMID:22573477
Nephron sparing surgery in von Hippel-Lindau associated renal cell carcinoma; clinicopathological long-term follow-up. PMID:22426863
Investigating the structural impacts of I64T and P311S mutations in APE1-DNA complex: a molecular dynamics approach. PMID:22384055
The interplay of mutations and electronic properties in disease-related genes. PMID:22355784
Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing. PMID:22328782
Predicting the effects of frameshifting indels. PMID:22322200
Detecting false-positive signals in exome sequencing. PMID:22294350
A combined functional annotation score for non-synonymous variants. PMID:22261837
Disease gene identification strategies for exome sequencing. PMID:22258526
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. PMID:22219087
SySAP: a system-level predictor of deleterious single amino acid polymorphisms. PMID:22183811
A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II. PMID:22125647
Premature coronary artery disease and familial hypercholesterolemia: need for early diagnosis and cascade screening in the Indian population. PMID:22111029
Whole genome resequencing of black Angus and Holstein cattle for SNP and CNV discovery. PMID:22085807
New frontiers of primary antibody deficiencies. PMID:22042269
The energy landscape analysis of cancer mutations in protein kinases. PMID:21998754
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. PMID:21953985
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type. PMID:21902834
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma. PMID:21850167
Structural and functional impact of cancer-related missense somatic mutations. PMID:21763698
Erythrodontia in congenital erythropoietic porphyria. PMID:21731282
Multiple factors insulate Msh2-Msh6 mismatch repair activity from defects in Msh2 domain I. PMID:21726567
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes. PMID:21685335
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. PMID:21487076
Meet me halfway: when genomics meets structural bioinformatics. PMID:21350909
The potential for automated question answering in the context of genomic medicine: An assessment of existing resources and properties of answers. PMID:21347155
Clinical, genetic, and pathological features of male pseudohermaphroditism in dog. PMID:21255434
Context-dependent robustness to 5' splice site polymorphisms in human populations. PMID:21224255
High-throughput mapping of protein occupancy identifies functional elements without the restriction of a candidate factor approach. PMID:21169336
FINDbase: a worldwide database for genetic variation allele frequencies updated. PMID:21113021
Cardiac disease in mucopolysaccharidosis type I attributed to catecholaminergic and hemodynamic deficiencies. PMID:21076027
An excess of G over C nucleotides in mutagenesis of human genetic diseases. PMID:20878503
Correlated mutations: a hallmark of phenotypic amino acid substitutions. PMID:20862353
Disease-associated mutations that alter the RNA structural ensemble. PMID:20808897
Prediction of deleterious non-synonymous SNPs based on protein interaction network and hybrid properties. PMID:20689580
Human variation databases. PMID:20639550
Tissue-specific target analysis of disease-associated microRNAs in human signaling pathways. PMID:20614023
Environmental exposure of the mouse germ line: DNA adducts in spermatozoa and formation of de novo mutations during spermatogenesis. PMID:20596530
A modified lipid composition in Fabry disease leads to an intracellular block of the detergent-resistant membrane-associated dipeptidyl peptidase IV. PMID:20495958
Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. PMID:20455263
Colloquium paper: footprints of nonsentient design inside the human genome. PMID:20445101
Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management. PMID:20233460
The Homeodomain Resource: a comprehensive collection of sequence, structure, interaction, genomic and functional information on the homeodomain protein family. PMID:20157477
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. PMID:20148966
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. PMID:20076800
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. PMID:20066033
CanProVar: a human cancer proteome variation database. PMID:20052754
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other. PMID:20024693
Evaluation of probabilistic and logical inference for a SNP annotation system. PMID:20015478
High-throughput binding analysis determines the binding specificity of ASF/SF2 on alternatively spliced human pre-mRNAs. PMID:20015017
PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation. PMID:19995808
PDbase: a database of Parkinson's disease-related genes and genetic variation using substantia nigra ESTs. PMID:19958497
Getting an edge on human disease. PMID:19888217
Edgetic perturbation models of human inherited disorders. PMID:19888216
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. PMID:19862842
Sequence and structure signatures of cancer mutation hotspots in protein kinases. PMID:19834613
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. PMID:19773742
The potential for automated question answering in the context of genomic medicine: an assessment of existing resources and properties of answers. PMID:19761578
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. PMID:19707363
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). PMID:19621417
Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study. PMID:19597567
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. PMID:19546169
Detection of single nucleotide variations in expressed exons of the human genome using RNA-Seq. PMID:19528076
Structural implication of splicing stochastics. PMID:19528068
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. PMID:19387866
Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. PMID:19372376
Splicing therapeutics in SMN2 and APOB. PMID:19330716
SNPit: a federated data integration system for the purpose of functional SNP annotation. PMID:19327864
Prediction of disease-related mutations affecting protein localization. PMID:19309509
Differential stabilities of alternative exon-skipped rod motifs of dystrophin. PMID:19286484
Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms. PMID:19221801
A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report. PMID:19203369
A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. PMID:19200524
Investigation of somatic NKX2-5 mutations in congenital heart disease. PMID:19181906
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. PMID:19116412
The YH database: the first Asian diploid genome database. PMID:19073702
FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease. PMID:19061490
SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry. PMID:19036792
APC gene mutations causing familial adenomatous polyposis in Polish patients. PMID:19029688
Mechanisms for human genomic rearrangements. PMID:19014668
Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins. PMID:18989397
Cataloging coding sequence variations in human genome databases. PMID:18974781
UCbase & miRfunc: a database of ultraconserved sequences and microRNA function. PMID:18945703
Genome wide identification of recessive cancer genes by combinatorial mutation analysis. PMID:18846217
Evolutionary origins of human apoptosis and genome-stability gene networks. PMID:18832373
Exhaustive prediction of disease susceptibility to coding base changes in the human genome. PMID:18793467
Comparative Toxicogenomics Database: a knowledgebase and discovery tool for chemical-gene-disease networks. PMID:18782832
Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival. PMID:18778477
The role of nucleotide cofactor binding in cooperativity and specificity of MutS recognition. PMID:18773911
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. PMID:18758829
Genetic variation in an individual human exome. PMID:18704161
Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties. PMID:18687880
In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier. PMID:18667942
Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates. PMID:18632684
Identification of deleterious non-synonymous single nucleotide polymorphisms using sequence-derived information. PMID:18588693
Congenital disease SNPs target lineage specific structural elements in protein kinases. PMID:18579784
Predicting functional regulatory polymorphisms. PMID:18562267
Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays. PMID:18519066
Genetics and immunopathology of chronic granulomatous disease. PMID:18509647
A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister. PMID:18508780
Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment. PMID:18500574
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome. PMID:18500569
PolySearch: a web-based text mining system for extracting relationships between human diseases, genes, mutations, drugs and metabolites. PMID:18487273
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. PMID:18433509
Marked variation in predicted and observed variability of tandem repeat loci across the human genome. PMID:18416815
Mechanical properties of bovine rhodopsin and bacteriorhodopsin: possible roles in folding and function. PMID:18266338
Rapid diagnosis of MEN2B using unlabeled probe melting analysis and the LightCycler 480 instrument. PMID:18258924
Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. PMID:18252213
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. PMID:18179889
Recommendations for locus-specific databases and their curation. PMID:18157828
Gene-centric characteristics of genome-wide association studies. PMID:18060058
Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics. PMID:18032726
Predicting the phenotypic effects of non-synonymous single nucleotide polymorphisms based on support vector machines. PMID:18005451
CADASIL in Arabs: clinical and genetic findings. PMID:17996090
A macaque's-eye view of human insertions and deletions: differences in mechanisms. PMID:17941704
The diploid genome sequence of an individual human. PMID:17803354
Spectrum of disease-causing mutations in protein secondary structures. PMID:17727703
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites. PMID:17726045
Genome bioinformatic analysis of nonsynonymous SNPs. PMID:17708757
Mutational pattern and frequency of induced nucleotide changes in mouse ENU mutagenesis. PMID:17584492
Chemical chaperone rescue of mutant human cystathionine beta-synthase. PMID:17540596
Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease. PMID:17514509
Genetic approaches to human renal agenesis/hypoplasia and dysplasia. PMID:17437132
ProCMD: a database and 3D web resource for protein C mutants. PMID:17430555
Integrative content-driven concepts for bioinformatics "beyond the cell". PMID:17426389
Mutational analysis of aspartoacylase: implications for Canavan disease. PMID:17391648
RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis. PMID:17384210
Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease. PMID:17360614
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. PMID:17357078
Enhancer identification through comparative genomics. PMID:17276707
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. PMID:17275379
A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. PMID:17257876
Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention. PMID:17201413
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. PMID:17186464
Searching for sequence directed mutagenesis in eukaryotes. PMID:17160648
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. PMID:17135191
Structural and functional analysis of the MutS C-terminal tetramerization domain. PMID:17012287
Cis-regulatory variations: a study of SNPs around genes showing cis-linkage in segregating mouse populations. PMID:16978413
The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis. PMID:16969582
Molecular approaches in the diagnosis of primary immunodeficiency diseases. PMID:16960849
The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms. PMID:16945909
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. PMID:16917729
An initial map of insertion and deletion (INDEL) variation in the human genome. PMID:16902084
LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption. PMID:16877817
[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site. PMID:16849362
A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants. PMID:16807757
Combining gene expression QTL mapping and phenotypic spectrum analysis to uncover gene regulatory relationships. PMID:16783639
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. PMID:16699754
A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview. PMID:16645853
Human SNPs resulting in premature stop codons and protein truncation. PMID:16595072
SNPs3D: candidate gene and SNP selection for association studies. PMID:16551372
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene. PMID:16541276
Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. PMID:16532394
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. PMID:16522644
First report of a de novo germline mutation in the MLH1 gene. PMID:16521201
Large-scale mutagenesis and phenotypic screens for the nervous system and behavior in mice. PMID:16519954
Comparative analysis of cancer genes in the human and chimpanzee genomes. PMID:16438707
Djinn Lite: a tool for customised gene transcript modelling, annotation-data enrichment and exploration. PMID:16426464
COSMIC 2005. PMID:16421597
Structural genomics analysis of alternative splicing and application to isoform structure modeling. PMID:16354838
RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database. PMID:16269091
Tandem repeat copy-number variation in protein-coding regions of human genes. PMID:16086851
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. PMID:15983781
nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms. PMID:15980516
Cardiac manifestations in the mouse model of mucopolysaccharidosis I. PMID:15979918
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. PMID:15965030
A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques. PMID:15951958
The exchangeability of amino acids in proteins. PMID:15944362
Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases. PMID:15858153
Speeding disease gene discovery by sequence based candidate prioritization. PMID:15766383
A microarray configuration to quantify expression levels and relative abundance of splice variants. PMID:15760843
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. PMID:15756302
Evolution of the exon-intron structure and alternative splicing of the MAGE-A family of cancer/testis antigens. PMID:15693618
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II). PMID:15614569
Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. PMID:15378350
Pattern of sequence variation across 213 environmental response genes. PMID:15364900
Genetic suppression of intronic +1G mutations by compensatory U1 snRNA changes in Caenorhabditis elegans. PMID:15342508
Single nucleotide polymorphism-based validation of exonic splicing enhancers. PMID:15340491
Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells. PMID:15338276
Comparative immunopeptidomics of humans and their pathogens. PMID:15326311
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. PMID:15241678
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes. PMID:15239832
Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes. PMID:15235904
PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. PMID:15215388
The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. PMID:15188009
Pyknodysostosis: visceral manifestations and simian crease. PMID:15163881
Identification of rat genes by TWINSCAN gene prediction, RT-PCR, and direct sequencing. PMID:15060008
Insertions and deletions are male biased too: a whole-genome analysis in rodents. PMID:15059997
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. PMID:12545275
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine PubMed citations: 596.

596 articles citing: The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India. PMID:35350997
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review. PMID:35346091
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene. PMID:35316504
KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders. PMID:35269516
Current and Future Approaches to Classify VUSs in LGMD-Related Genes. PMID:35205425
Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report. PMID:35130874
Clinical Utility of Genomic Testing in Cancer Care. PMID:35085005
Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas. PMID:35008787
Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication. PMID:34966786
Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population. PMID:34946936
Five novel copy number variations detected in patients with familial exudative vitreoretinopathy. PMID:34924743
Nephritis and Hearing Loss-Not All Roads Lead to Alport Syndrome. PMID:34805643
Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone. PMID:34759960
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization. PMID:34752750
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants. PMID:34746235
Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients. PMID:34677667
Whole-exome sequencing identifies an RS1 variant in a Chinese family with X-linked retinoschisis. PMID:34675999
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders. PMID:34663891
Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer. PMID:34657357
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses. PMID:34592835
α-Lipoic Acid Improves Hepatic Metabolic Dysfunctions in Acute Intermittent Porphyria: A Proof-of-Concept Study. PMID:34573969
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants. PMID:34573290
Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene. PMID:34564127
Repurposing new drug candidates and identifying crucial molecules underlying PCOS Pathogenesis Based On Bioinformatics Analysis. PMID:34480296
Update on Biomarkers in Spinal Muscular Atrophy. PMID:34421296
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS. PMID:34351388
A case of Wilson disease with the ATP7B mutation presenting movement disorders. PMID:34345444
Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder. PMID:34277514
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly. PMID:34268892
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes. PMID:34230640
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. PMID:34230634
Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. PMID:34155038
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. PMID:34148116
A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy. PMID:34145321
Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility. PMID:34070849
The Genetics of Hereditary Angioedema: A Review. PMID:34065094
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets. PMID:34054914
WEVar: a novel statistical learning framework for predicting noncoding regulatory variants. PMID:34021560
Interpretation of deep learning in genomics and epigenomics. PMID:34020542
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency. PMID:33985475
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings. PMID:33977023
Molecular basis of various forms of maple syrup urine disease in Chilean patients. PMID:33955723
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency. PMID:33922602
FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring. PMID:33892622
Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes. PMID:33875481
Pregnancy in an adolescent with maple syrup urine disease: Case report. PMID:33868929
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
Functional annotation of lung cancer‒associated genetic variants by cell type‒specific epigenome and long-range chromatin interactome. PMID:33840167
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg. PMID:33776625
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility. PMID:33767344
Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian. PMID:33725819
Targeted next-generation sequencing of deaf patients from Southwestern China. PMID:33724713
Consistent ultra-long DNA sequencing with automated slow pipetting. PMID:33711930
Photoreceptor Disc Enclosure Is Tightly Controlled by Peripherin-2 Oligomerization. PMID:33707293
Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins. PMID:33672602
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype. PMID:33661429
Digital phenotyping and sensitive health data: Implications for data governance. PMID:33647989
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies. PMID:33623043
Territory-Wide Chinese Cohort of Long QT Syndrome: Random Survival Forest and Cox Analyses. PMID:33614747
Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML. PMID:33608312
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation. PMID:33606672
Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant. PMID:33562887
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study. PMID:33562422
Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency. PMID:33560599
A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy. PMID:33557929
Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival. PMID:33536423
Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia. PMID:33477877
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis. PMID:33477601
Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report. PMID:33442181
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing. PMID:33436942
CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes. PMID:33425808
Machine learning based CRISPR gRNA design for therapeutic exon skipping. PMID:33417623
Approaches to treat pulmonary arterial hypertension by targeting BMPR2: from cell membrane to nucleus. PMID:33399862
DeMaSk: a deep mutational scanning substitution matrix and its use for variant impact prediction. PMID:33325500
Computational methods for detecting cancer hotspots. PMID:33304455
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes. PMID:33208168
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings. PMID:33193738
Significant Association of rs2147555 Genetic Polymorphism in the EDNRB Gene with Hirschsprung Disease in Southern Chinese Children. PMID:33178831
A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis. PMID:33163362
False Alarms in Consumer Genomics Add to Public Fear and Potential Health Care Burden. PMID:33113957
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants. PMID:33106425
Application of BERT to Enable Gene Classification Based on Clinical Evidence. PMID:33083472
Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management. PMID:33026560
An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants. PMID:32967157
X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India. PMID:32953644
Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment. PMID:32914088
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant. PMID:32847582
Assessing performance of pathogenicity predictors using clinically relevant variant datasets. PMID:32843488
SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants. PMID:32813752
Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency. PMID:32801365
Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report. PMID:32793304
Limitations and challenges in protein stability prediction upon genome variations: towards future applications in precision medicine. PMID:32774791
Cyclin-dependent kinases and rare developmental disorders. PMID:32762766
Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia. PMID:32759540
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants. PMID:32735577
Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension. PMID:32733669
Genetic, clinical, molecular, and pathogenic aspects of the South Asian-specific polymorphic MYBPC3Δ25bp variant. PMID:32656747
Collaborative, Multidisciplinary Evaluation of Cancer Variants Through Virtual Molecular Tumor Boards Informs Local Clinical Practices. PMID:32644817
Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3. PMID:32626542
Determinants of Base Editing Outcomes from Target Library Analysis and Machine Learning. PMID:32533916
Photoreceptor Disc Enclosure Occurs in the Absence of Normal Peripherin-2/rds Oligomerization. PMID:32410962
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe. PMID:32402084
Atypical and ultra-rare Usher syndrome: a review. PMID:32372680
The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice. PMID:32371886
Correlation between NF1 genotype and imaging phenotype on whole-body MRI: NF1 radiogenomics. PMID:32345730
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. PMID:32337852
CScape-somatic: distinguishing driver and passenger point mutations in the cancer genome. PMID:32282885
Intact B-Cell Signaling and Function With Host B-Cells 47 Years After Transplantation for X-SCID. PMID:32265911
New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson's disease. PMID:32264837
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. PMID:32241839
In Silico Prediction of the Effects of Nonsynonymous Single Nucleotide Polymorphisms in the Human Catechol-O-Methyltransferase (COMT) Gene. PMID:32236879
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes. PMID:32225115
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis. PMID:32219518
An update on the genetics and pathogenesis of hereditary angioedema. PMID:32181278
A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia. PMID:32175296
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships. PMID:32152366
A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I. PMID:32143638
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout. PMID:32128695
DISNET: a framework for extracting phenotypic disease information from public sources. PMID:32110491
Analysis of protein missense alterations by combining sequence- and structure-based methods. PMID:32096919
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription. PMID:32051525
Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family. PMID:31994352
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. PMID:31892343
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. PMID:31888296
Genetic Disorders Associated with Metal Metabolism. PMID:31835360
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases. PMID:31819097
Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants. PMID:31799076
PCOSBase: a manually curated database of polycystic ovarian syndrome. PMID:31725861
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. PMID:31692161
The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study. PMID:31687525
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge. PMID:31680375
A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report. PMID:31672125
Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria. PMID:31649158
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. PMID:31646703
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. PMID:31607746
Genome-wide association study of INDELs identified four novel susceptibility loci associated with lung cancer risk. PMID:31577861
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients. PMID:31544778
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. PMID:31534212
Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs. PMID:31533369
Estimating the Frequency of Single Point Driver Mutations across Common Solid Tumours. PMID:31530827
A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics. PMID:31527767
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping. PMID:31519934
regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants. PMID:31511901
Precise Immunodetection of PTEN Protein in Human Neoplasia. PMID:31501265
Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance. PMID:31488451
Insights into pathological mutations in insulin-like growth factor I through in silico screening and molecular dynamics simulation. PMID:31456057
The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar. PMID:31441606
Predicting the Occurrence of Variants in RAG1 and RAG2. PMID:31388879
Molecular clustering of genes related to the atopic syndrome: Towards a more tailored approach and personalized medicine? PMID:31333817
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. PMID:31327510
EPIC: software toolkit for elution profile-based inference of protein complexes. PMID:31308550
Whole-Exome Sequencing of Nasopharyngeal Carcinoma Families Reveals Novel Variants Potentially Involved in Nasopharyngeal Carcinoma. PMID:31289279
Protein-Protein Interaction Network Analysis Reveals Several Diseases Highly Associated with Polycystic Ovarian Syndrome. PMID:31216618
Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients. PMID:31173236
Integrative Analysis of Somatic Mutations in Non-coding Regions Altering RNA Secondary Structures in Cancer Genomes. PMID:31160636
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases. PMID:31106028
Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing. PMID:31068157
Genetic Variations and Precision Medicine. PMID:31019429
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. PMID:30970187
NAA10 polyadenylation signal variants cause syndromic microphthalmia. PMID:30842225
Federated discovery and sharing of genomic data using Beacons. PMID:30833764
Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients. PMID:30781664
A Novel Mutation in the Adult-Onset Alexander's Disease GFAP Gene. PMID:30755773
NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans. PMID:30744685
How good are pathogenicity predictors in detecting benign variants? PMID:30742610
New insights into the pathogenicity of non-synonymous variants through multi-level analysis. PMID:30733553
Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures. PMID:30680361
Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study. PMID:30659980
Biological relevance of computationally predicted pathogenicity of noncoding variants. PMID:30659175
Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far. PMID:30627136
Using the drug-protein interactome to identify anti-ageing compounds for humans. PMID:30625143
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita. PMID:30620004
Triple A syndrome: two siblings with a novel mutation in the AAAS gene. PMID:30612286
Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms. PMID:30565237
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis. PMID:30555096
ShapeGTB: the role of local DNA shape in prioritization of functional variants in human promoters with machine learning. PMID:30519505
Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease. PMID:30514708
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. PMID:30507031
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. PMID:30459467
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant. PMID:30419843
Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data. PMID:30411536
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature. PMID:30402260
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. PMID:30376835
Using human sequencing to guide craniofacial research. PMID:30375152
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis. PMID:30352134
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations. PMID:30323756
High prevalence of focal and multi-focal somatic genetic variants in the human brain. PMID:30323172
Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I". PMID:30286738
Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis. PMID:30272267
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. PMID:30245029
A sequence-based, deep learning model accurately predicts RNA splicing branchpoints. PMID:30224349
DES-Mutation: System for Exploring Links of Mutations and Diseases. PMID:30190574
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes. PMID:30187164
Global landscape of mouse and human cytokine transcriptional regulation. PMID:30184180
An analysis of aging-related genes derived from the Genotype-Tissue Expression project (GTEx). PMID:30155276
Comparative Genomics Approaches Accurately Predict Deleterious Variants in Plants. PMID:30139765
hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update. PMID:30129167
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants. PMID:30096381
Variants in the ABCA4 gene in a Brazilian population with Stargardt disease. PMID:30093795
Realizing the significance of noncoding functionality in clinical genomics. PMID:30089779
What's the Function of Connexin 32 in the Peripheral Nervous System? PMID:30042657
Predicting the clinical impact of human mutation with deep neural networks. PMID:30038395
Computational Approaches to Prioritize Cancer Driver Missense Mutations. PMID:30037003
Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation. PMID:29977033
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. PMID:29915382
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. PMID:29908077
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. PMID:29907799
Regulatory variants: from detection to predicting impact. PMID:29893792
Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder. PMID:29888248
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants. PMID:29884787
BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study. PMID:29791287
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family. PMID:29776397
At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy-Are We Closer to Effective Treatment for Patients? PMID:29772730
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl. PMID:29767664
Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion. PMID:29764897
VAReporter: variant reporter for cancer research of massive parallel sequencing. PMID:29764369
Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome. PMID:29760939
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy. PMID:29749992
Pathway perturbations in signaling networks: Linking genotype to phenotype. PMID:29738884
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment. PMID:29726959
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population. PMID:29706639
Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana. PMID:29706352
Emerging Role of Precision Medicine in Cardiovascular Disease. PMID:29700074
Structural basis for the activation of acid ceramidase. PMID:29692406
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. PMID:29673180
Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms. PMID:29664915
Highly parallel genome variant engineering with CRISPR-Cas9. PMID:29632376
DeFine: deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants. PMID:29617928
Successful treatment of severe combined post- and pre-capillary pulmonary hypertension in a patient with idiopathic restrictive cardiomyopathy. PMID:29575985
A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis. PMID:29568065
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia. PMID:29567674
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. PMID:29543232
Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer. PMID:29531238
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis. PMID:29504914
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. PMID:29472286
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. PMID:29453417
Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries. PMID:29444099
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation. PMID:29422768
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders. PMID:29417091
Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling. PMID:29386531
Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans. PMID:29374778
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital. PMID:29368431
Interactome INSIDER: a structural interactome browser for genomic studies. PMID:29355848
Disorders of metal metabolism. PMID:29354481
Venous thromboembolism associated with protein S deficiency due to Arg451* mutation in PROS1 gene: a case report and a literature review. PMID:29321366
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. PMID:29309402
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis. PMID:29281699
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. PMID:29276005
A network-based meta-analysis for characterizing the genetic landscape of human aging. PMID:29270911
Pseudoacromegaly: A Differential Diagnostic Problem for Acromegaly With a Genetic Solution. PMID:29264563
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis. PMID:29261184
Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia. PMID:29258992
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. PMID:29253866
The genetic profile of Leber congenital amaurosis in an Australian cohort. PMID:29178642
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications. PMID:29176389
Lysosomal storage diseases. PMID:29152458
Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma. PMID:29124493
Targeted Gene Sequencing of Gallbladder Carcinoma Identifies High-impact Somatic and Rare Germline Mutations. PMID:29109099
UGT1A1 gene linkage analysis: application of polymorphic markers rs4148326/rs4124874 in the Iranian population. PMID:29085579
Human gene essentiality. PMID:29082913
Noncoding Variants Functional Prioritization Methods Based on Predicted Regulatory Factor Binding Sites. PMID:29081688
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. PMID:29074561
Cellular network perturbations by disease-associated variants. PMID:29057377
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. PMID:29053603
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy. PMID:29042326
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. PMID:29036432
Rare germline variants in known melanoma susceptibility genes in familial melanoma. PMID:29036293
Re-evaluating pathogenicity of variants associated with the long QT syndrome. PMID:28988457
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. PMID:28981955
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. PMID:28977528
FIRE: functional inference of genetic variants that regulate gene expression. PMID:28961785
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. PMID:28944237
Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants. PMID:28924536
CScape: a tool for predicting oncogenic single-point mutations in the cancer genome. PMID:28912487
Polygenic determinants in extremes of high-density lipoprotein cholesterol. PMID:28870971
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history. PMID:28861920
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. PMID:28851873
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22. PMID:28840990
Inherited, not acquired, Gitelman syndrome in a patient with Sjögren's syndrome: importance of genetic testing to distinguish the two forms. PMID:28819721
Decoding disease-causing mechanisms of missense mutations from supramolecular structures. PMID:28819267
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics. PMID:28815929
Functional analysis of Na+/H+ exchanger 9 variants identified in patients with autism and epilepsy. PMID:28815171
Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals. PMID:28812016
Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing. PMID:28808973
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. PMID:28761321
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. PMID:28761320
Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B. PMID:28752769
Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity. PMID:28725320
Do sodium channel proteolytic fragments regulate sodium channel expression? PMID:28718687
Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. PMID:28717666
Findings of a 1303 Korean whole-exome sequencing study. PMID:28706299
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy. PMID:28701297
Quantifying the Impact of Non-coding Variants on Transcription Factor-DNA Binding. PMID:28691125
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling. PMID:28679693
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). PMID:28667292
Cysteamine revisited: repair of arginine to cysteine mutations. PMID:28643139
The evolving genetic risk for sporadic ALS. PMID:28642336
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells. PMID:28624186
Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease. PMID:28617845
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. PMID:28617419
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. PMID:28583108
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. PMID:28567303
Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1. PMID:28564608
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges. PMID:28544272
Identifying pathogenicity of human variants via paralog-based yeast complementation. PMID:28542158
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A. PMID:28540636
Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants. PMID:28539581
GeMSTONE: orchestrated prioritization of human germline mutations in the cloud. PMID:28521008
Architecture of the human interactome defines protein communities and disease networks. PMID:28514442
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. PMID:28512736
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges. PMID:28508593
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. PMID:28496993
Comprehensive strategy for the design of precision drugs and identification of genetic signature behind proneness of the disease-a pharmacogenomic approach. PMID:28470340
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. PMID:28469144
PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update. PMID:28453649
The genetics of Wilson disease. PMID:28433102
regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution. PMID:28391525
Nanodiscs and Solution NMR: preparation, application and challenges. PMID:28373928
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis. PMID:28359509
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. PMID:28349240
Role of Structural Bioinformatics in Drug Discovery by Computational SNP Analysis: Analyzing Variation at the Protein Level. PMID:28302551
Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data. PMID:28288115
Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides. PMID:28270093
Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease. PMID:28265589
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options. PMID:28261062
Genetics and genomics of dilated cardiomyopathy and systolic heart failure. PMID:28228157
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. PMID:28224773
High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine. PMID:28213901
Clinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory. PMID:28213806
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. PMID:28209709
Next-generation sequencing in familial breast cancer patients from Lebanon. PMID:28202063
Opportunities and challenges of whole-genome and -exome sequencing. PMID:28193154
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols. PMID:28188534
IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. PMID:28180317
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. PMID:28166811
Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. PMID:28160152
Prediction of Protein Interactions by Structural Matching: Prediction of PPI Networks and the Effects of Mutations on PPIs that Combines Sequence and Structural Information. PMID:28150242
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. PMID:28132688
A variant of Brugada syndrome. PMID:28127136
A comprehensive global genotype-phenotype database for rare diseases. PMID:28116331
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. PMID:28106320
iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. PMID:28100260
GAVIN: Gene-Aware Variant INterpretation for medical sequencing. PMID:28093075
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. PMID:28074886
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. PMID:28061824
TBX5: A Key Regulator of Heart Development. PMID:28057264
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. PMID:28041643
A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis. PMID:28030592
Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency. PMID:28028996
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. PMID:28018435
Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. PMID:28018021
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. PMID:28005958
The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes. PMID:27999115
Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine. PMID:27980697
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. PMID:27966545
Enhanced Visualization of Subtle Outer Retinal Pathology by En Face Optical Coherence Tomography and Correlation with Multi-Modal Imaging. PMID:27959968
Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms. PMID:27939749
Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats. PMID:27939289
Genetic and epigenetic characterization of the BRCA1 gene in Brazilian women at-risk for hereditary breast cancer. PMID:27926510
Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies. PMID:27924022
Localized structural frustration for evaluating the impact of sequence variants. PMID:27915290
Aspartylglycosaminuria: a review. PMID:27906067
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. PMID:27863252
Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer. PMID:27844240
Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants. PMID:27840609
Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation. PMID:27837218
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. PMID:27798099
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. PMID:27790088
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. PMID:27776117
A computational interactome and functional annotation for the human proteome. PMID:27770567
Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2. PMID:27761249
Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry. PMID:27725664
Exome and genome sequencing for inborn errors of immunity. PMID:27720020
Analysis of Arabidopsis Accessions Hypersensitive to a Loss of Chloroplast Translation. PMID:27707889
Improving the in silico assessment of pathogenicity for compensated variants. PMID:27703146
Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease. PMID:27697855
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. PMID:27696107
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. PMID:27683084
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. PMID:27666373
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. PMID:27664052
High-throughput discovery of novel developmental phenotypes. PMID:27626380
From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides. PMID:27623443
ExonImpact: Prioritizing Pathogenic Alternative Splicing Events. PMID:27604408
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. PMID:27600940
Overview of the interactive task in BioCreative V. PMID:27589961
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. PMID:27578510
Explorations to improve the completeness of exome sequencing. PMID:27568008
The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease. PMID:27564311
VARPRISM: incorporating variant prioritization in tests of de novo mutation association. PMID:27562213
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. PMID:27553520
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. PMID:27549087
One-Tube-Only Standardized Site-Directed Mutagenesis: An Alternative Approach to Generate Amino Acid Substitution Collections. PMID:27548698
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. PMID:27539938
Analysis of protein-coding genetic variation in 60,706 humans. PMID:27535533
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. PMID:27527004
RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord. PMID:27487029
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay. PMID:27486480
Computational assessment of feature combinations for pathogenic variant prediction. PMID:27468419
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. PMID:27456059
Establishing a baseline for literature mining human genetic variants and their relationships to disease cohorts. PMID:27454860
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations. PMID:27449771
Prefoldin Promotes Proteasomal Degradation of Cytosolic Proteins with Missense Mutations by Maintaining Substrate Solubility. PMID:27448207
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family. PMID:27439461
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. PMID:27435932
Protein function in precision medicine: deep understanding with machine learning. PMID:27423136
Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants. PMID:27406314
Multi-OMICs and Genome Editing Perspectives on Liver Cancer Signaling Networks. PMID:27403431
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review. PMID:27401223
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations. PMID:27381090
The expanding phenotypic spectra of kidney diseases: insights from genetic studies. PMID:27374918
Establishing and validating regulatory regions for variant annotation and expression analysis. PMID:27357948
Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking. PMID:27355191
Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution. PMID:27324845
PTENpred: A Designer Protein Impact Predictor for PTEN-related Disorders. PMID:27310656
The Story of Angioedema: from Quincke to Bradykinin. PMID:27287037
Mining clinical attributes of genomic variants through assisted literature curation in Egas. PMID:27278817
Predicting regulatory variants with composite statistic. PMID:27273672
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. PMID:27272408
The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. PMID:27267960
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer. PMID:27267075
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report. PMID:27255181
Development and clinical application of an integrative genomic approach to personalized cancer therapy. PMID:27245685
Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. PMID:27224999
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions. PMID:27224906
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). PMID:27224056
Molecular findings from 537 individuals with inherited retinal disease. PMID:27208204
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases. PMID:27165008
Democratization of genetic data: connecting government approval of clinical tests with data sharing. PMID:27148568
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia. PMID:27147545
Incorporating Non-Coding Annotations into Rare Variant Analysis. PMID:27128317
A Clinician's perspective on clinical exome sequencing. PMID:27126233
Genetics of Hereditary Angioedema Revisited. PMID:27116602
Inherited platelet disorders: toward DNA-based diagnosis. PMID:27095789
Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias. PMID:27081508
Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation. PMID:27066750
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. PMID:27065010
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study. PMID:27026573
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PMID:26990884
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning. PMID:26984561
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation. PMID:26964878
Mutations in ARSB in MPS VI patients in India. PMID:26937411
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders. PMID:26934356
Harmonizing the interpretation of genetic variants across the world: the Malaysian experience. PMID:26915360
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. PMID:26896187
An expanded sequence context model broadly explains variability in polymorphism levels across the human genome. PMID:26878723
Erosion of Conserved Binding Sites in Personal Genomes Points to Medical Histories. PMID:26845687
mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome. PMID:26841357
Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies. PMID:26837502
The mutation significance cutoff: gene-level thresholds for variant predictions. PMID:26820543
A structured interdomain linker directs self-polymerization of human uromodulin. PMID:26811476
Quantifying prion disease penetrance using large population control cohorts. PMID:26791950
The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes. PMID:26781712
A Proteome-wide Fission Yeast Interactome Reveals Network Evolution Principles from Yeasts to Human. PMID:26771498
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants. PMID:26752218
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PMID:26741492
Syncope and cardiac arrest during strenuous exercise associated with a novel mutation in LQTS1. PMID:26734131
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. PMID:26681312
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. PMID:26667666
Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features. PMID:26652843
A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment. PMID:26648831
Sanfilippo syndrome: causes, consequences, and treatments. PMID:26648750
Clinical application of whole-exome sequencing across clinical indications. PMID:26633542
From Single Variants to Protein Cascades: MULTISCALE MODELING OF SINGLE NUCLEOTIDE VARIANT SETS IN GENETIC DISORDERS. PMID:26601959
Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy. PMID:26590798
Lynx: a knowledge base and an analytical workbench for integrative medicine. PMID:26590263
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs. PMID:26555599
Crowdsourced direct-to-consumer genomic analysis of a family quartet. PMID:26547235
The role of functional data in interpreting the effects of genetic variation. PMID:26543197
The promise and peril of genomic screening in the general population. PMID:26540154
Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort. PMID:26534921
Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations. PMID:26528178
Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. PMID:26522332
The human gene damage index as a gene-level approach to prioritizing exome variants. PMID:26483451
DIDA: A curated and annotated digenic diseases database. PMID:26481352
Molecular Genetic Characterization of Thyroid Dyshormonogenesis in a French Bulldog. PMID:26478542
Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges. PMID:26473927
Building the foundation for genomics in precision medicine. PMID:26469044
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). PMID:26442818
Genotype-Phenotype Correlation in Indian Patients with MEN2-Associated Pheochromocytoma and Comparison of Clinico-Pathological Attributes with Apparently Sporadic Adrenal Pheochromocytoma. PMID:26438242
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1. PMID:26435059
Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene. PMID:26431479
Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. PMID:26369774
DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts. PMID:26363178
Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality. PMID:26352407
Can the impact of human genetic variations be predicted? PMID:26351682
Computational approaches to study the effects of small genomic variations. PMID:26350246
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. PMID:26350204
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. PMID:26345448
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories. PMID:26338694
Mapping the Conformation Space of Wildtype and Mutant H-Ras with a Memetic, Cellular, and Multiscale Evolutionary Algorithm. PMID:26325505
Stuve-Wiedemann syndrome with a novel mutation. PMID:26323980
Predicting effects of noncoding variants with deep learning-based sequence model. PMID:26301843
An integrated structure- and system-based framework to identify new targets of metabolites and known drugs. PMID:26286808
Toward a Deeper Understanding of the Genetics of Bipolar Disorder. PMID:26283973
Achieving high-sensitivity for clinical applications using augmented exome sequencing. PMID:26269718
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. PMID:26246501
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. PMID:26242991
Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences. PMID:26220699
Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning. PMID:26213851
A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus. PMID:26208472
BayesPI-BAR: a new biophysical model for characterization of regulatory sequence variations. PMID:26202972
Secondary findings and carrier test frequencies in a large multiethnic sample. PMID:26195989
BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms. PMID:26191084
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. PMID:26187847
Mevalonate Pathway Blockade, Mitochondrial Dysfunction and Autophagy: A Possible Link. PMID:26184189
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin. PMID:26152202
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. PMID:26150102
An improved understanding of cancer genomics through massively parallel sequencing. PMID:26146607
RPGR: Its role in photoreceptor physiology, human disease, and future therapies. PMID:26093275
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. PMID:26059845
[Personalized medicine in otology. The role of genetic diagnostics in patients with hearing impairment]. PMID:26059788
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement. PMID:26020417
The road from next-generation sequencing to personalized medicine. PMID:26000024
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? PMID:25994865
Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. PMID:25980907
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. PMID:25973577
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. PMID:25954003
Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PMID:25942438
PGMD: a comprehensive manually curated pharmacogenomic database. PMID:25939485
Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies. PMID:25937569
Functional classification of 15 million SNPs detected from diverse chicken populations. PMID:25926514
Widespread macromolecular interaction perturbations in human genetic disorders. PMID:25910212
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data. PMID:25893794
Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder. PMID:25887117
Personalized biochemistry and biophysics. PMID:25856502
Alström Syndrome: Mutation Spectrum of ALMS1. PMID:25846608
Evaluation of exome sequencing variation in undiagnosed ataxias. PMID:25842391
An unusual cause of "pink diaper" in an infant: Answers. PMID:25823988
An unusual cause of pink diapers in an infant: Questions and Answers. PMID:25823987
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). PMID:25820994
Decoding mechanisms by which silent codon changes influence protein biogenesis and function. PMID:25817479
In-silico analysis of inflammatory bowel disease (IBD) GWAS loci to novel connections. PMID:25786114
VaRank: a simple and powerful tool for ranking genetic variants. PMID:25780760
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). PMID:25759012
Computational study of missense mutations in phenylalanine hydroxylase. PMID:25750018
The Human Genome Project, and recent advances in personalized genomics. PMID:25733939
A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy. PMID:25706306
Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity. PMID:25687726
Creation of targeted genomic deletions using TALEN or CRISPR/Cas nuclease pairs in one-cell mouse embryos. PMID:25685662
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. PMID:25684150
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. PMID:25675413
Genes and podocytes - new insights into mechanisms of podocytopathy. PMID:25667580
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. PMID:25616960
Evolutionary constraint and disease associations of post-translational modification sites in human genomes. PMID:25611800
Big data and clinicians: a review on the state of the science. PMID:25600256
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. PMID:25593501
An integrative approach to predicting the functional effects of non-coding and coding sequence variation. PMID:25583119
Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer. PMID:25548800
Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis. PMID:25504735
Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease. PMID:25493570
Computational approaches to interpreting genomic sequence variation. PMID:25473426
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. PMID:25472526
Structure of the F-actin-tropomyosin complex. PMID:25470062
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline. PMID:25466957
FLAGS, frequently mutated genes in public exomes. PMID:25466818
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation. PMID:25452324
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. PMID:25433810
Structure-guided U2AF65 variant improves recognition and splicing of a defective pre-mRNA. PMID:25422459
A proteome-scale map of the human interactome network. PMID:25416956
Clinical exome sequencing for genetic identification of rare Mendelian disorders. PMID:25326637
Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder. PMID:25324542
EpilepsyGene: a genetic resource for genes and mutations related to epilepsy. PMID:25324312
Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. PMID:25311508
VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants. PMID:25306238
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A. PMID:25287660
Organizing knowledge to enable personalization of medicine in cancer. PMID:25222080
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). PMID:25216246
A probabilistic model to predict clinical phenotypic traits from genome sequencing. PMID:25188385
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. PMID:25186178
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child. PMID:25156245
Available resources and challenges for the clinical annotation of somatic variations. PMID:25111663
Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. PMID:25111227
Phen-Gen: combining phenotype and genotype to analyze rare disorders. PMID:25086502
GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files. PMID:25055742
Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations. PMID:25018621
Impairment of translation in neurons as a putative causative factor for autism. PMID:25011470
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. PMID:24988226
Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing. PMID:24973560
Returning individual research results for genome sequences of pancreatic cancer. PMID:24963353
Copy number variants are a common cause of non-syndromic hearing loss. PMID:24963352
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome. PMID:24932600
Genetic interaction analysis of point mutations enables interrogation of gene function at a residue-level resolution: exploring the applications of high-resolution genetic interaction mapping of point mutations. PMID:24842270
Grand challenges in cellular biochemistry: the "next-gen" biochemistry. PMID:24809045
A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination. PMID:24682784
MutationTaster2: mutation prediction for the deep-sequencing age. PMID:24681721
A framework for organizing cancer-related variations from existing databases, publications and NGS data using a High-performance Integrated Virtual Environment (HIVE). PMID:24667251
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks. PMID:24599843
Implementation of biomarker-driven cancer therapy: existing tools and remaining gaps. PMID:24534473
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. PMID:24451234
Integrated analysis of germline and somatic variants in ovarian cancer. PMID:24448499
Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation. PMID:24436305
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. PMID:24430573
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. PMID:24356988
NECTAR: a database of codon-centric missense variant annotations. PMID:24297257
Lynx: a database and knowledge extraction engine for integrative medicine. PMID:24270788
Molecular genetic epidemiology of human diseases: from patterns to predictions. PMID:24241280
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies PubMed citations: 470.

470 articles citing: The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19. PMID:35725860
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry. PMID:35725623
Alteration in DNA-binding affinity of Wilms tumor 1 protein due to WT1 genetic variants associated with steroid - resistant nephrotic syndrome in children. PMID:35610319
Virally Mediated Connexin 26 Expression in Postnatal Scala Media Significantly and Transiently Preserves Hearing in Connexin 30 Null Mice. PMID:35573684
Endophenotype-based in silico network medicine discovery combined with insurance record data mining identifies sildenafil as a candidate drug for Alzheimer's disease. PMID:35572351
Classification of non-coding variants with high pathogenic impact. PMID:35486646
A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism. PMID:35457241
Predicting the functional impact of KCNQ1 variants with artificial neural networks. PMID:35442947
Rescue of mis-splicing of a common SLC26A4 mutant associated with sensorineural hearing loss by antisense oligonucleotides. PMID:35433113
Integrated RNA-Seq Analysis Uncovers the Potential Mechanism of the "Kidney Governing Bones" Theory of TCM. PMID:35399624
Clinical implementation of RNA sequencing for Mendelian disease diagnostics. PMID:35379322
Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency. PMID:35309119
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. PMID:35288587
Microfluidic fabrication of lipid nanoparticles for the delivery of nucleic acids. PMID:35288219
Investigating the Effects of Amino Acid Variations in Human Menin. PMID:35268848
Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation. PMID:35267244
Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation. PMID:35246967
Early Diagnosis of Wilson's Disease in Children in Southern China by Using Common Parameters. PMID:35222532
Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China. PMID:35220961
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability. PMID:35216386
Development and Use of Cellular Systems to Assess and Correct Splicing Defects. PMID:35213015
A qRT-PCR Method Capable of Quantifying Specific Microorganisms Compared to NGS-Based Metagenome Profiling Data. PMID:35208779
Functional Validation of Osteoporosis Genetic Findings Using Small Fish Models. PMID:35205324
Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population. PMID:35205123
RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome. PMID:35186810
Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma. PMID:35169785
A genetic screen in C. elegans reveals roles for KIN17 and PRCC in maintaining 5' splice site identity. PMID:35143478
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing. PMID:35140743
Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort. PMID:35128484
Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination. PMID:35122187
Prevalence of Fabry Disease among Patients with Parkinson's Disease. PMID:35111290
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review. PMID:35098484
The QChip1 knowledgebase and microarray for precision medicine in Qatar. PMID:35046417
Characteristics and possible mechanisms of formation of microinversions distinguishing human and chimpanzee genomes. PMID:35022450
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations. PMID:35008721
Loss-of-function mutation in Pcsk1 increases serum APOA1 level and LCAT activity in mice. PMID:34996527
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease. PMID:34948256
Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques. PMID:34938269
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China. PMID:34926337
Pharmacogenomics and circadian rhythms as mediators of cardiovascular drug-drug interactions. PMID:34909660
Nationwide screening for Fabry disease in unselected stroke patients. PMID:34905550
Decoding the effects of synonymous variants. PMID:34850938
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India. PMID:34849271
How much prestin motor activity is required for normal hearing? PMID:34848118
HODD: A Manually Curated Database of Human Ophthalmic Diseases with Symptom Characteristics and Genetic Variants Towards Facilitating Quick and Definite Diagnosis. PMID:34846641
Facilitating Antiviral Drug Discovery Using Genetic and Evolutionary Knowledge. PMID:34834924
Pharmacogenomics and Personalized Medicine in Type 2 Diabetes Mellitus: Potential Implications for Clinical Practice. PMID:34803393
HFIP: an integrated multi-omics data and knowledge platform for the precision medicine of heart failure. PMID:34791105
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq. PMID:34782607
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants. PMID:34762822
Comparative analysis of human facial skin microbiome between topical sites compared to entire face. PMID:34734352
A Novel Variant in Iranian Patient with Cystinuria: A Case Report. PMID:34722386
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2. PMID:34691159
Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing. PMID:34690123
Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria. PMID:34681668
RNA Splicing: A Versatile Regulatory Mechanism in Pediatric Liver Diseases. PMID:34651015
Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze. PMID:34631621
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish. PMID:34630034
Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss. PMID:34622280
Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome. PMID:34573902
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations. PMID:34573333
Improved pathogenicity prediction for rare human missense variants. PMID:34551312
Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models. PMID:34549350
Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations. PMID:34498116
Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia. PMID:34484308
The chemical biology of coronavirus host-cell interactions. PMID:34458775
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry. PMID:34435747
Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method. PMID:34423584
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country. PMID:34395220
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation. PMID:34393998
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases. PMID:34373523
Gene Mutation Classification through Text Evidence Facilitating Cancer Tumour Detection. PMID:34367540
Genetic etiology of hearing loss in Russia. PMID:34363095
IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling. PMID:34349788
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants. PMID:34326492
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred. PMID:34319541
Discovery of genomic variation across a generation. PMID:34296264
Molecular classification of blood and bleeding disorder genes. PMID:34272389
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants. PMID:34242285
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data. PMID:34235269
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes. PMID:34230640
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia. PMID:34210339
Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report. PMID:34182956
Advancing clinical genomics and precision medicine with GVViZ: FAIR bioinformatics platform for variable gene-disease annotation, visualization, and expression analysis. PMID:34174938
Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. PMID:34155038
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital. PMID:34136434
Network module-based drug repositioning for pulmonary arterial hypertension. PMID:34132494
Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families. PMID:34107977
Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation. PMID:34089464
Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy. PMID:34068831
Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization. PMID:34027285
Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine. PMID:34026292
The Longitudinal Early-onset Alzheimer's Disease Study (LEADS): Framework and methodology. PMID:34018654
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis. PMID:34016879
Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies. PMID:34003923
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant. PMID:33999094
Structure of the murine lysosomal multienzyme complex core. PMID:33980489
Eliminating base-editor-induced genome-wide and transcriptome-wide off-target mutations. PMID:33972728
Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients. PMID:33936175
Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations. PMID:33929692
New insights into hallux valgus by whole exome sequencing study. PMID:33926255
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer. PMID:33889545
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin. PMID:33807656
Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression. PMID:33804940
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. PMID:33799353
Germline mutations in apoptosis pathway genes in ovarian cancer; the functional role of a TP53I3 (PIG3) variant in ROS production and DNA repair. PMID:33782397
Improving the clinical interpretation of missense variants in X linked genes using structural analysis. PMID:33766936
The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review. PMID:33762894
The Epidemiological and Mechanistic Understanding of the Neurological Manifestations of COVID-19: A Comprehensive Meta-Analysis and a Network Medicine Observation. PMID:33732102
Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation. PMID:33718389
Wilson's Disease Presenting in Late Adult Life. PMID:33708062
Risk assessment of type 2 diabetes in northern China based on the logistic regression model. PMID:33682772
APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome. PMID:33670833
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype. PMID:33661429
Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders. PMID:33638707
Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing. PMID:33606250
The histone demethylase KDM5 is required for synaptic structure and function at the Drosophila neuromuscular junction. PMID:33596422
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. PMID:33595712
Angioedema without wheals: a clinical update. PMID:33593719
A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment. PMID:33584831
A randomized single and multiple ascending dose study in healthy volunteers of LTI-291, a centrally penetrant glucocerebrosidase activator. PMID:33576113
Comprehensive characterization of protein-protein interactions perturbed by disease mutations. PMID:33558758
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution. PMID:33552904
Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update. PMID:33547946
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. PMID:33547425
InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution. PMID:33543123
Conserved regulatory logic at accessible and inaccessible chromatin during the acute inflammatory response in mammals. PMID:33495464
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. PMID:33486889
An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants. PMID:33483584
MVP predicts the pathogenicity of missense variants by deep learning. PMID:33479230
In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency. PMID:33469833
A platform for curated products from novel open reading frames prompts reinterpretation of disease variants. PMID:33468550
Multitasking guardian of mitochondrial quality: Parkin function and Parkinson's disease. PMID:33468256
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss. PMID:33466560
Precision genome editing using cytosine and adenine base editors in mammalian cells. PMID:33462442
Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men. PMID:33459881
Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene. PMID:33433888
Strategies to Identify Genetic Variants Causing Infertility. PMID:33431240
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease. PMID:33426156
Ataluren and aminoglycosides stimulate read-through of nonsense codons by orthogonal mechanisms. PMID:33414181
Family history assessment significantly enhances delivery of precision medicine in the genomics era. PMID:33413596
Chemical Decorations of "MARs" Residents in Orchestrating Eukaryotic Gene Regulation. PMID:33409278
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance. PMID:33408250
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients. PMID:33407268
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients. PMID:33375644
New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype? PMID:33374679
Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review. PMID:33345454
Gene diagnosis of infantile neurofibromatosis type I: A case report. PMID:33344560
Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility. PMID:33298905
Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs. PMID:33293645
Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease. PMID:33288751
KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses. PMID:33287903
Mutations Causing Mild or No Structural Damage in Interfaces of Multimerization of the Fibrinogen γ-Module More Likely Confer Negative Dominant Behaviors. PMID:33260935
Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay. PMID:33244158
Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain Cancer. PMID:33242424
Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives. PMID:33240932
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. PMID:33232675
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations. PMID:33226070
A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI. PMID:33209960
Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants. PMID:33199988
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes. PMID:33176815
Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia. PMID:33173538
Alagille Syndrome: Diagnostic Challenges and Advances in Management. PMID:33172025
A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease. PMID:33168984
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity. PMID:33159804
Recent advances in the epidemiology and genetics of acute intermittent porphyria. PMID:33139978
Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy. PMID:33137195
Systems pharmacology approach uncovers Ligustilide attenuates experimental colitis in mice by inhibiting PPARγ-mediated inflammation pathways. PMID:33130971
The emergence of new trends in clinical laboratory diagnosis. PMID:33130836
A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes. PMID:33117810
Developmental Gene Expression Differences between Humans and Mammalian Models. PMID:33113372
Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants. PMID:33110609
The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients. PMID:33101979
Hyperhomocysteinemia: Clinical Insights. PMID:33100834
Monogenic variants in dystonia: an exome-wide sequencing study. PMID:33098801
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration. PMID:33067476
Heritable hazards of smoking: Applying the "clean sheet" framework to further science and policy. PMID:33064321
Advancement in research and therapy of NF1 mutant malignant tumors. PMID:33061844
[Application of RNA sequencing in clinical diagnosis of Mendelian disease]. PMID:33059815
Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles. PMID:33059616
Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome. PMID:33008311
Singular cases of Alzheimer's disease disclose new and old genetic "acquaintances". PMID:33006056
CRISPR/Cas9-mediated correction of mutated copper transporter ATP7B. PMID:32997714
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia. PMID:32995289
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing. PMID:32985468
Identification of pathogenic missense mutations using protein stability predictors. PMID:32958805
Systems pharmacology-based approach to investigate the mechanisms of Danggui-Shaoyao-san prescription for treatment of Alzheimer's disease. PMID:32948180
Family-Based Whole Genome Sequencing Identified Novel Variants in ABCA5 Gene in a Patient with Idiopathic Ventricular Tachycardia. PMID:32939586
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy. PMID:32936536
The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients. PMID:32934962
Reengineering an Antiarrhythmic Drug Using Patient hiPSC Cardiomyocytes to Improve Therapeutic Potential and Reduce Toxicity. PMID:32931730
Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants. PMID:32931148
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives. PMID:32899693
The Polygenic and Monogenic Basis of Blood Traits and Diseases. PMID:32888494
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea. PMID:32870266
The Parkinson's Disease Genome-Wide Association Study Locus Browser. PMID:32864809
Similar burden of pathogenic coding variants in exceptionally long-lived individuals and individuals without exceptional longevity. PMID:32860726
Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease. PMID:32856414
Assessing performance of pathogenicity predictors using clinically relevant variant datasets. PMID:32843488
Tracking the motion of the KV 1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy. PMID:32833227
SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants. PMID:32813752
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report. PMID:32807182
Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome. PMID:32802275
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. PMID:32790018
Causal Genetic Variants in Stillbirth. PMID:32786180
A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I. PMID:32785987
Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia. PMID:32765423
Evaluation of the role of Nrf2/Keap1 pathway-associated novel mutations and gene expression on antioxidant status in patients with deep vein thrombosis. PMID:32742329
Novel mutation identified in Leber congenital amaurosis - a case report. PMID:32736544
Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. PMID:32733828
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS". PMID:32728228
High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect. PMID:32708339
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission"). PMID:32678339
H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours. PMID:32666581
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time. PMID:32665702
Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report. PMID:32664103
Gene Loss Predictably Drives Evolutionary Adaptation. PMID:32658971
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted. PMID:32655299
Disease mutations in striated muscle myosins. PMID:32651905
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach. PMID:32635232
Pre-clinical study of induced pluripotent stem cell-derived dopaminergic progenitor cells for Parkinson's disease. PMID:32632153
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. PMID:32627857
Detecting pathogenic variants in autoimmune diseases using high-throughput sequencing. PMID:32623783
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands. PMID:32618053
A fully-automated method discovers loss of mouse-lethal and human-monogenic disease genes in 58 mammals. PMID:32614390
Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice? PMID:32613181
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. PMID:32596782
A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family. PMID:32588564
Deleterious mis-splicing of STK11 caused by a novel single-nucleotide substitution in the 3' polypyrimidine tract of intron five. PMID:32573125
Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome. PMID:32555393
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants. PMID:32533152
Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease. PMID:32515140
Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges. PMID:32512765
In silico analysis on the functional and structural impact of Rad50 mutations involved in DNA strand break repair. PMID:32509463
Human gene and disease associations for clinical-genomics and precision medicine research. PMID:32508008
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. PMID:32499722
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release. PMID:32499479
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. PMID:32487729
Sentinel interaction mapping - a generic approach for the functional analysis of human disease gene variants using yeast. PMID:32471850
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes. PMID:32463623
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families. PMID:32457805
Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa. PMID:32454406
Advances in genome editing for genetic hearing loss. PMID:32387678
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency. PMID:32373116
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals. PMID:32355288
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar. PMID:32313206
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population. PMID:32300527
First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations. PMID:32286434
SAAMBE-3D: Predicting Effect of Mutations on Protein-Protein Interactions. PMID:32272725
Molecular Trajectory of BRCA1 and BRCA2 Mutations. PMID:32269964
Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family. PMID:32253825
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. PMID:32232970
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families. PMID:32209057
Mucopolysaccharidosis Type I. PMID:32188113
Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation. PMID:32183147
Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation. PMID:32181283
Clinical Interpretation of Sequence Variants. PMID:32176464
LEAP: Using machine learning to support variant classification in a clinical setting. PMID:32176384
Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome. PMID:32168437
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. PMID:32168371
Claudins in Renal Physiology and Pathology. PMID:32164158
In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract. PMID:32143568
Assessing thyroid cancer risk using polygenic risk scores. PMID:32132206
Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening. PMID:32123222
Rhapsody: predicting the pathogenicity of human missense variants. PMID:32101277
Comparison of Mendeliome exome capture kits for use in clinical diagnostics. PMID:32094380
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis. PMID:32071926
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders. PMID:32050448
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes. PMID:32048431
A mutation map for human glycoside hydrolase genes. PMID:32039448
Genomic basis for RNA alterations in cancer. PMID:32025019
Phenylthiourea Binding to Human Tyrosinase-Related Protein 1. PMID:32019241
How and why to build a mathematical model: A case study using prion aggregation. PMID:32005659
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations. PMID:31992338
The tale of two genes: from next-generation sequencing to phenotype. PMID:31969346
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways. PMID:31941532
In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract. PMID:31935276
The promise and reality of therapeutic discovery from large cohorts. PMID:31929188
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. PMID:31924766
Two novel mutations in MSX1 causing oligodontia. PMID:31914153
CALR mutations in a cohort of JAK2 V617F negative patients with suspected myeloproliferative neoplasms. PMID:31882869
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy. PMID:31878136
Amino Acid Transport Defects in Human Inherited Metabolic Disorders. PMID:31878022
Identifying Common Genes, Cell Types and Brain Regions Between Diseases of the Nervous System. PMID:31850066
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy. PMID:31804667
RNA-Seq Perspectives to Improve Clinical Diagnosis. PMID:31781178
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants. PMID:31779641
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing. PMID:31779139
Capillary Malformation-Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of RASA1 and NOTCH2. PMID:31749841
Ranking of non-coding pathogenic variants and putative essential regions of the human genome. PMID:31748530
In utero Exposure to Genotoxicants Leading to Genetic Mosaicism: An Overlooked Window of Susceptibility in Genetic Toxicology Testing? PMID:31743493
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1. PMID:31737856
Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency. PMID:31709144
UCSC Genome Browser enters 20th year. PMID:31691824
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
Future Preventive Gene Therapy of Polygenic Diseases from a Population Genetics Perspective. PMID:31658652
Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in cats. PMID:31650629
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. PMID:31649718
PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variation. PMID:31642469
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. PMID:31619213
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. PMID:31613795
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants. PMID:31599023
Computational analysis of functional SNPs in Alzheimer's disease-associated endocytosis genes. PMID:31592138
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3'-end. PMID:31591141
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus. PMID:31586237
Debutant iOS app and gene-disease complexities in clinical genomics and precision medicine. PMID:31586224
Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses. PMID:31572445
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. PMID:31562665
A rare cause of hypertension in childhood: Answers. PMID:31541304
XMAn v2-a database of Homo sapiens mutated peptides. PMID:31539018
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors. PMID:31535183
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. PMID:31515488
A-to-I RNA editing contributes to the persistence of predicted damaging mutations in populations. PMID:31515285
GRAM: A GeneRAlized Model to predict the molecular effect of a non-coding variant in a cell-type specific manner. PMID:31469829
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature. PMID:31467448
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study. PMID:31440271
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. PMID:31433103
Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study. PMID:31411008
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution. PMID:31395865
Two novel GJA1 variants in oculodentodigital dysplasia. PMID:31347275
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. PMID:31343788
The clinical and radiological profile of primary lateral sclerosis: a population-based study. PMID:31325016
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report. PMID:31315586
A clinically validated whole genome pipeline for structural variant detection and analysis. PMID:31307387
The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach. PMID:31303482
Assessing predictions of the impact of variants on splicing in CAGI5. PMID:31301154
Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate. PMID:31300554
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. PMID:31294896
Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy. PMID:31293105
GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease? PMID:31291414
VIPdb, a genetic Variant Impact Predictor Database. PMID:31283070
Isoforms of Base Excision Repair Enzymes Produced by Alternative Splicing. PMID:31277343
ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs. PMID:31261034
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project. PMID:31256874
The Relevance of Variants With Unknown Significance for Autism Spectrum Disorder Considering the Genotype-Phenotype Interrelationship. PMID:31231258
Recessive gene disruptions in autism spectrum disorder. PMID:31209396
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study. PMID:31200731
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. PMID:31199787
Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys). PMID:31195736
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. PMID:31180157
A Deep Neural Network for Predicting and Engineering Alternative Polyadenylation. PMID:31178116
Alagille Syndrome: A Novel Mutation in JAG1 Gene. PMID:31157196
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. PMID:31144778
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains. PMID:31116477
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants. PMID:31106382
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. PMID:31073229
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. PMID:31064749
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases. PMID:31053099
SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data. PMID:31045209
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. PMID:31042289
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. PMID:31026367
Mouse germ line mutations due to retrotransposon insertions. PMID:31011371
De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. PMID:31001316
Uncovering Missing Heritability in Rare Diseases. PMID:30987386
Clinical application of next-generation sequencing to the practice of neurology. PMID:30981321
A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature. PMID:30979360
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. PMID:30964584
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. PMID:30961538
Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing. PMID:30930113
Combinatorial interactions of genetic variants in human cardiomyopathy. PMID:30923642
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project. PMID:30915099
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency. PMID:30872718
A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia. PMID:30854216
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. PMID:30827497
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients. PMID:30792900
Structures of the heart specific SERCA2a Ca2+-ATPase. PMID:30777856
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. PMID:30763456
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia. PMID:30762128
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. PMID:30740734
A Rhodopsin Transport Assay by High-Content Imaging Analysis. PMID:30735172
Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias. PMID:30685387
Congenital erythropoietic porphyria: Recent advances. PMID:30685241
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants. PMID:30678654
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. PMID:30626929
Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations. PMID:30621608
New in Vitro Assay Measuring Direct Interaction of Nonsense Suppressors with the Eukaryotic Protein Synthesis Machinery. PMID:30613341
Folding and Misfolding of Human Membrane Proteins in Health and Disease: From Single Molecules to Cellular Proteostasis. PMID:30608666
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. PMID:30594473
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. PMID:30591557
Ensembl variation resources. PMID:30576484
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance. PMID:30571187
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency. PMID:30570712
The sequencing and interpretation of the genome obtained from a Serbian individual. PMID:30566479
Integrating molecular networks with genetic variant interpretation for precision medicine. PMID:30548534
Expanded Insights Into Mechanisms of Gene Expression and Disease Related Disruptions. PMID:30542652
A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene. PMID:30534854
Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption. PMID:30523278
CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma. PMID:30520782
A common pathomechanism in GMAP-210- and LBR-related diseases. PMID:30518689
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population. PMID:30516811
Cystinuria: genetic aspects, mouse models, and a new approach to therapy. PMID:30515543
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. PMID:30514647
Downstream TRPM4 Polymorphisms Are Associated with Intracranial Hypertension and Statistically Interact with ABCC8 Polymorphisms in a Prospective Cohort of Severe Traumatic Brain Injury. PMID:30484364
Clinical Genetics of Polydactyly: An Updated Review. PMID:30459804
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. PMID:30442161
Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use. PMID:30420667
Expanding the clinical phenotype of IARS2-related mitochondrial disease. PMID:30419932
PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. PMID:30407536
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome. PMID:30377230
Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation. PMID:30369311
Immune diversity sheds light on missing variation in worldwide genetic diversity panels. PMID:30365549
Quantitative and systems pharmacology 4. Network-based analysis of drug pleiotropy on coronary artery disease. PMID:30359818
AGD: Aneurysm Gene Database. PMID:30256987
Exome sequencing study of 20 patients with high myopia. PMID:30245926
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. PMID:30245029
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. PMID:30240412
Genetic associations and phenotypic heterogeneity in the craniosynostotic rabbit. PMID:30235265
Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population. PMID:30228974
Wilson disease. PMID:30190489
Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene. PMID:30175132
Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes. PMID:30168256
Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies. PMID:30128729
Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia. PMID:30103613
Computational resources associating diseases with genotypes, phenotypes and exposures. PMID:30102366
Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia. PMID:30086704
C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies. PMID:30083851
BioMuta and BioXpress: mutation and expression knowledgebases for cancer biomarker discovery. PMID:30053270
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency. PMID:29997612
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. PMID:29956005
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family. PMID:29930474
Structural basis of pyrrole polymerization in human porphobilinogen deaminase. PMID:29908816
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93. PMID:29869118
Determining the incidence of familiality in ALS: A study of temporal trends in Ireland from 1994 to 2016. PMID:29845113
Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders. PMID:29844251
Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy. PMID:29764441
Somatic clones heterozygous for recessive disease alleles of BMPR1A exhibit unexpected phenotypes in Drosophila. PMID:29745898
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases. PMID:29704307
A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma. PMID:29700698
Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process. PMID:29700661
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia. PMID:29654263
Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP. PMID:29632172
Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome. PMID:29628764
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. PMID:29590070
A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017). PMID:29560547
Prediction and interpretation of deleterious coding variants in terms of protein structural stability. PMID:29540703
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family. PMID:29456477
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. PMID:29453418
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome. PMID:29434620
Whole Exome Sequencing: Applications in Prenatal Genetics. PMID:29428287
Alpha galactosidase A activity in Parkinson's disease. PMID:29369793
Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial. PMID:29356820
Implementing genome-driven personalized cardiology in clinical practice. PMID:29343412
Site-specific randomization of the endogenous genome by a regulatable CRISPR-Cas9 piggyBac system in human cells. PMID:29321585
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes. PMID:29311818
A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia. PMID:29304759
Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework. PMID:29254494
PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease. PMID:29225857
Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives. PMID:29225788
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study. PMID:29204651
Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders. PMID:29170458
Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient. PMID:29141581
VarCards: an integrated genetic and clinical database for coding variants in the human genome. PMID:29112736
A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History. PMID:28986664
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome. PMID:28985712
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. PMID:28983057
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. PMID:28981474
Biological and functional relevance of CASP predictions. PMID:28975675
FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. PMID:28968714
Vermont: a multi-perspective visual interactive platform for mutational analysis. PMID:28929973
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants. PMID:28882004
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). PMID:28824921
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. PMID:28802248
A new era in the interpretation of human genomic variation. PMID:28703787
Promises, pitfalls and practicalities of prenatal whole exome sequencing. PMID:28654730
The NF1 somatic mutational landscape in sporadic human cancers. PMID:28637487
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. PMID:28600779
Epidemiology of mucopolysaccharidoses. PMID:28595941
Genome annotation for clinical genomic diagnostics: strengths and weaknesses. PMID:28558813
The role of the ATP2C1 gene in Hailey-Hailey disease. PMID:28551824
The Human Gene Mutation Database: 2008 update PubMed citations: 387.

387 articles citing: The Human Gene Mutation Database: 2008 update

Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death. PMID:35243873
Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume. PMID:35235537
Current and Future Approaches to Classify VUSs in LGMD-Related Genes. PMID:35205425
Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees. PMID:34956103
A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal Bleeding. PMID:34901807
A comprehensive in silico investigation into the nsSNPs of Drd2 gene predicts significant functional consequences in dopamine signaling and pharmacotherapy. PMID:34853389
Whole-Genome Profiles of Malay Colorectal Cancer Patients with Intact MMR Proteins. PMID:34573430
Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing. PMID:34461970
Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms-a case report. PMID:34430447
Retinoblastoma genetics screening and clinical management. PMID:34294096
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis. PMID:34234628
Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A. PMID:34012382
Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1. PMID:33986331
Learning a genome-wide score of human-mouse conservation at the functional genomics level. PMID:33941776
Genetic basis of hypercholesterolemia in adults. PMID:33854068
Gene Editing Correction of a Urea Cycle Defect in Organoid Stem Cell Derived Hepatocyte-like Cells. PMID:33530582
A new mutation in DNM2 gene in a large Italian family. PMID:33459893
Application of BERT to Enable Gene Classification Based on Clinical Evidence. PMID:33083472
Mutational analysis of extranodal marginal zone lymphoma using next generation sequencing. PMID:32963611
Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease. PMID:32957937
MAGPEL: an autoMated pipeline for inferring vAriant-driven Gene PanEls from the full-length biomedical literature. PMID:32703994
Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer. PMID:32634176
Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia. PMID:32097478
Diagnosis of Inherited Platelet Disorders on a Blood Smear. PMID:32079152
Computational determination of human PPARG gene: SNPs and prediction of their effect on protein functions of diabetic patients. PMID:32064572
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients. PMID:31996269
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. PMID:31996268
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. PMID:31649718
Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease. PMID:31611903
A-to-I RNA editing contributes to the persistence of predicted damaging mutations in populations. PMID:31515285
GRAM: A GeneRAlized Model to predict the molecular effect of a non-coding variant in a cell-type specific manner. PMID:31469829
Global Text Mining and Development of Pharmacogenomic Knowledge Resource for Precision Medicine. PMID:31447668
Integrative transcriptome imputation reveals tissue-specific and shared biological mechanisms mediating susceptibility to complex traits. PMID:31444360
A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome. PMID:31428446
Co-segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease. PMID:31384335
Misfolded proinsulin impairs processing of precursor of insulin receptor and insulin signaling in β cells. PMID:31311313
Future directions for high-throughput splicing assays in precision medicine. PMID:31297895
On estimating evolutionary probabilities of population variants. PMID:31238981
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets. PMID:31235655
A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia). PMID:31213145
Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran. PMID:31162818
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk. PMID:31133750
Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations. PMID:31086831
Structural and functional impact of non-synonymous SNPs in the CST complex subunit TEN1: structural genomics approach. PMID:31028137
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A). PMID:31015822
Novel ATP7A gene mutation in a patient with Menkes disease. PMID:30538525
The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results. PMID:30392543
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning. PMID:30319441
Rare loss of function variants in candidate genes and risk of colorectal cancer. PMID:30267214
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases. PMID:30158844
Many pitfalls in diagnosis of acute intermittent porphyria: a case report. PMID:30071891
Genetic variation of the transcription factor GATA3, not STAT4, is associated with the risk of type 2 diabetes in the Bangladeshi population. PMID:30044774
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk. PMID:30013180
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. PMID:29982630
Adaptive Landscape of Protein Variation in Human Exomes. PMID:29846678
Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. PMID:29765282
BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan. PMID:29755871
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. PMID:29706644
Neutral Theory, Disease Mutations, and Personal Exomes. PMID:29688514
No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY. PMID:29670293
Identification of Single Nucleotide Non-coding Driver Mutations in Cancer. PMID:29456552
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. PMID:29392648
Protein-protein interaction analysis to identify biomarker networks for endometriosis. PMID:29201163
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. PMID:29198724
Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family. PMID:29196976
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease. PMID:29133643
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. PMID:29096039
CRAVAT 4: Cancer-Related Analysis of Variants Toolkit. PMID:29092935
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. PMID:28966547
Neonatal hemolytic anemia does not always indicate thalassemia: a case report. PMID:28899405
Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy. PMID:28867931
From Waldenström's macroglobulinemia to aggressive diffuse large B-cell lymphoma: a whole-exome analysis of abnormalities leading to transformation. PMID:28841204
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. PMID:28819299
Forces and Disease: Electrostatic force differences caused by mutations in kinesin motor domains can distinguish between disease-causing and non-disease-causing mutations. PMID:28811629
Necroptosis activation in Alzheimer's disease. PMID:28758999
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients. PMID:28685491
Interpreting whole genome and exome sequencing data of individual gastric cancer samples. PMID:28683819
Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer. PMID:28675654
Structure of Human Tyrosinase Related Protein 1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis. PMID:28661582
Lost in translation: returning germline genetic results in genome-scale cancer research. PMID:28454591
A comprehensive analysis of cancer-driving mutations and genes in kidney cancer. PMID:28454375
A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family. PMID:28401488
Alternative splicing: the pledge, the turn, and the prestige : The key role of alternative splicing in human biological systems. PMID:28374191
A sequence-based method to predict the impact of regulatory variants using random forest. PMID:28361702
Leveraging Online Resources to Prioritize Candidate Genes for Functional Analyses: Using the Fetal Testis as a Test Case. PMID:28196369
Regulatory single nucleotide polymorphisms (rSNPs) at the promoters 1A and 1B of the human APC gene. PMID:28105931
In silico characterization of functional SNP within the oestrogen receptor gene. PMID:27994185
Genetic Diversity and Population Structure of Whitebark Pine (Pinus albicaulis Engelm.) in Western North America. PMID:27992468
DIVAN: accurate identification of non-coding disease-specific risk variants using multi-omics profiles. PMID:27923386
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics. PMID:27919237
Prioritization of non-coding disease-causing variants and long non-coding RNAs in liver cancer. PMID:27895760
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. PMID:27831900
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions. PMID:27706244
Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. PMID:27618201
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. PMID:27617158
Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice. PMID:27605180
Integrated network analysis reveals distinct regulatory roles of transcription factors and microRNAs. PMID:27604961
SPAI: an interactive platform for indel analysis. PMID:27585593
Menkes disease: what a multidisciplinary approach can do. PMID:27574440
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. PMID:27562378
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. PMID:27535653
Genetic Misdiagnoses and the Potential for Health Disparities. PMID:27532831
Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X. PMID:27523816
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. PMID:27513193
Congenital Erythropoietic Porphyria with Undescended Testis. PMID:27512208
The Qatar genome: a population-specific tool for precision medicine in the Middle East. PMID:27408750
Multivariate Methods for Genetic Variants Selection and Risk Prediction in Cardiovascular Diseases. PMID:27376073
Functional annotation of noncoding variants and prioritization of cancer-associated lncRNAs in lung cancer. PMID:27347129
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. PMID:27330822
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions. PMID:27313609
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy. PMID:27247961
DNetDB: The human disease network database based on dysfunctional regulation mechanism. PMID:27209279
First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects. PMID:27168972
A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach. PMID:27152669
Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis. PMID:27141495
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. PMID:27084890
An NGS Workflow Blueprint for DNA Sequencing Data and Its Application in Individualized Molecular Oncology. PMID:27081306
DiMeX: A Text Mining System for Mutation-Disease Association Extraction. PMID:27073839
dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions. PMID:26989155
Responsible implementation of expanded carrier screening. PMID:26980105
Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients. PMID:26909336
Double-stem Hairpin Probe and Ultrasensitive Colorimetric Detection of Cancer-related Nucleic Acids. PMID:26909108
Mutation pattern is an influential factor on functional mutation rates in cancer. PMID:26865835
A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes. PMID:26850479
Differential contribution of genomic regions to marked genetic variation and prediction of quantitative traits in broiler chickens. PMID:26842494
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism. PMID:26758695
PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss. PMID:26689366
Reads meet rotamers: structural biology in the age of deep sequencing. PMID:26658741
Regulatory single nucleotide polymorphisms at the beginning of intron 2 of the human KRAS gene. PMID:26648033
The UCSC Genome Browser database: 2016 update. PMID:26590259
A Dual Model for Prioritizing Cancer Mutations in the Non-coding Genome Based on Germline and Somatic Events. PMID:26588488
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. PMID:26542245
A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene. PMID:26509008
Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment. PMID:26494363
A Molecular Evolutionary Reference for the Human Variome. PMID:26464126
The human disease network in terms of dysfunctional regulatory mechanisms. PMID:26450611
Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene. PMID:26365003
Smoking Gun or Circumstantial Evidence? Comparison of Statistical Learning Methods using Functional Annotations for Prioritizing Risk Variants. PMID:26300220
Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy. PMID:26296701
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health. PMID:26283345
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol. PMID:26255038
Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network. PMID:26221186
Enrichment of Minor Alleles of Common SNPs and Improved Risk Prediction for Parkinson's Disease. PMID:26207627
CoagVDb: a comprehensive database for coagulation factors and their associated SAPs. PMID:26187044
Homozygous loss-of-function variants in European cosmopolitan and isolate populations. PMID:26173456
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. PMID:26154504
Non-coding genetic variants in human disease. PMID:26152199
Disease-associated variants in different categories of disease located in distinct regulatory elements. PMID:26110593
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. PMID:26077850
Detection and analysis of disease-associated single nucleotide polymorphism influencing post-translational modification. PMID:26043787
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. PMID:25985138
PaPI: pseudo amino acid composition to score human protein-coding variants. PMID:25928477
Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene. PMID:25860343
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. PMID:25782689
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. PMID:25764212
Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing. PMID:25751143
Problems with the nested granularity of feature domains in bioinformatics: the eXtasy case. PMID:25734591
The pattern of DNA cleavage intensity around indels. PMID:25660536
Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions. PMID:25657065
PON-P2: prediction method for fast and reliable identification of harmful variants. PMID:25647319
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. PMID:25637381
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. PMID:25626705
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency. PMID:25624737
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. PMID:25525159
Structural basis for heterogeneous phenotype of ERG11 dependent Azole resistance in C.albicans clinical isolates. PMID:25512882
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations. PMID:25502805
Systematic analysis of the in situ crosstalk of tyrosine modifications reveals no additional natural selection on multiply modified residues. PMID:25476580
In silico prediction of splice-altering single nucleotide variants in the human genome. PMID:25416802
A proposed clinical decision support architecture capable of supporting whole genome sequence information. PMID:25411644
SuRFing the genomics wave: an R package for prioritising SNPs by functionality. PMID:25400697
Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy. PMID:25398255
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. PMID:25356970
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. PMID:25308558
Elucidating the genotype-phenotype relationships and network perturbations of human shared and specific disease genes from an evolutionary perspective. PMID:25287147
Discriminating between deleterious and neutral non-frameshifting indels based on protein interaction networks and hybrid properties. PMID:25248637
Phenome-wide association studies (PheWASs) for functional variants. PMID:25074467
Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability. PMID:25003006
The domain landscape of virus-host interactomes. PMID:24991570
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts. PMID:24980617
Whole-genome sequence variation, population structure and demographic history of the Dutch population. PMID:24974849
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study. PMID:24956927
Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation. PMID:24947580
Antisense oligonucleotide induction of progerin in human myogenic cells. PMID:24892300
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. PMID:24875298
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. PMID:24849935
Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods. PMID:24829188
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. PMID:24813812
Determining causality and consequence of expression quantitative trait loci. PMID:24770875
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. PMID:24763289
Seminal plasma as a diagnostic fluid for male reproductive system disorders. PMID:24709963
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. PMID:24667040
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes. PMID:24664876
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. PMID:24647030
Clinical interpretation and implications of whole-genome sequencing. PMID:24618965
The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell. PMID:24600475
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2). PMID:24578721
Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa. PMID:24520188
Single-nucleotide polymorphisms interact to affect ADH7 transcription. PMID:24512552
Phosphoproteomic analysis reveals regulatory mechanisms at the kidney filtration barrier. PMID:24511133
Two novel mutations identified in familial cases with Donohue syndrome. PMID:24498630
Functional annotation of noncoding sequence variants. PMID:24487584
A general framework for estimating the relative pathogenicity of human genetic variants. PMID:24487276
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. PMID:24478108
Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model. PMID:24475193
Genomic data and disease forecasting: application to type 2 diabetes (T2D). PMID:24465649
Deriving a mutation index of carcinogenicity using protein structure and protein interfaces. PMID:24454733
Quantitative prediction of the effect of genetic variation using hidden Markov models. PMID:24405700
Transcriptome-wide discovery of microRNA binding sites in human brain. PMID:24389009
Two-phase and family-based designs for next-generation sequencing studies. PMID:24379824
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis. PMID:24306141
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. PMID:24278394
The UCSC Genome Browser database: 2014 update. PMID:24270787
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies. PMID:24234438
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. PMID:24215330
Detection of regulatory SNPs in human genome using ChIP-seq ENCODE data. PMID:24205329
SIFT Indel: predictions for the functional effects of amino acid insertions/deletions in proteins. PMID:24194902
Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome. PMID:24167619
The challenges, advantages and future of phenome-wide association studies. PMID:24147732
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. PMID:24097065
Exploring mechanisms of human disease through structurally resolved protein interactome networks. PMID:24096645
Integrative annotation of variants from 1092 humans: application to cancer genomics. PMID:24092746
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. PMID:24088041
Personalized genomic disease risk of volunteers. PMID:24082139
eXtasy: variant prioritization by genomic data fusion. PMID:24076761
Actionable, pathogenic incidental findings in 1,000 participants' exomes. PMID:24055113
A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. PMID:24019744
A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes. PMID:23966869
Databases of genomic variation and phenotypes: existing resources and future needs. PMID:23962721
Towards precision medicine: advances in computational approaches for the analysis of human variants. PMID:23962656
Computational approaches to identify functional genetic variants in cancer genomes. PMID:23900255
Target essentiality and centrality characterize drug side effects. PMID:23874169
Interpreting secondary cardiac disease variants in an exome cohort. PMID:23861362
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. PMID:23847139
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. PMID:23820649
Identifying Mendelian disease genes with the variant effect scoring tool. PMID:23819870
Dissecting disease inheritance modes in a three-dimensional protein network challenges the "guilt-by-association" principle. PMID:23791107
Intrinsic disorder in PTEN and its interactome confers structural plasticity and functional versatility. PMID:23783762
DigSee: Disease gene search engine with evidence sentences (version cancer). PMID:23761452
Detection and impact of rare regulatory variants in human disease. PMID:23755067
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. PMID:23731542
Molecular genetic testing and the future of clinical genomics. PMID:23681062
From mouse to human: evolutionary genomics analysis of human orthologs of essential genes. PMID:23675308
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. PMID:23620143
Targeted exome sequencing of suspected mitochondrial disorders. PMID:23596069
Management of incidental findings in clinical genomic sequencing. PMID:23595601
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients. PMID:23592409
Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis. PMID:23573385
Targeting RNA splicing for disease therapy. PMID:23512601
Interpretation of genomic variants using a unified biological network approach. PMID:23505346
Hunting human disease genes: lessons from the past, challenges for the future. PMID:23504071
Defining the membrane-associated state of the PTEN tumor suppressor protein. PMID:23442912
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. PMID:23364466
Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment. PMID:23360744
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. PMID:23342054
Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies. PMID:23341771
CRAVAT: cancer-related analysis of variants toolkit. PMID:23325621
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome. PMID:23308164
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease. PMID:23270508
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. PMID:23217326
The Disease and Gene Annotations (DGA): an annotation resource for human disease. PMID:23197658
Genome-wide sequencing to identify the cause of hereditary cancer syndromes: with examples from familial pancreatic cancer. PMID:23196058
Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. PMID:23139751
Estimating the rate of irreversibility in protein evolution. PMID:23132897
An integrated map of genetic variation from 1,092 human genomes. PMID:23128226
Sensitive measurement of single-nucleotide polymorphism-induced changes of RNA conformation: application to disease studies. PMID:23125360
Insights into the evolutionary features of human neurodegenerative diseases. PMID:23118989
Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. PMID:23103111
Predicting the functional effect of amino acid substitutions and indels. PMID:23056405
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa. PMID:23049240
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. PMID:23033316
An informatics approach to analyzing the incidentalome. PMID:22995991
Genome-wide epigenetic data facilitate understanding of disease susceptibility association studies. PMID:22952232
Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. PMID:22901741
The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice. PMID:22875012
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population. PMID:22848652
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. PMID:22848519
HINT: High-quality protein interactomes and their applications in understanding human disease. PMID:22846459
Quantitative acetylome analysis reveals the roles of SIRT1 in regulating diverse substrates and cellular pathways. PMID:22826441
Patient-controlled encrypted genomic data: an approach to advance clinical genomics. PMID:22818218
The porphyrias: advances in diagnosis and treatment. PMID:22791288
Computational tools for prioritizing candidate genes: boosting disease gene discovery. PMID:22751426
Genic and nongenic contributions to natural variation of quantitative traits in maize. PMID:22701078
SIFT web server: predicting effects of amino acid substitutions on proteins. PMID:22689647
Mutations and binding sites of human transcription factors. PMID:22670148
Molecular and Clinical Aspects of Angelman Syndrome. PMID:22670133
Modeling disease mutations by gene targeting in one-cell mouse embryos. PMID:22660928
Personalized medicine: hope or hype? PMID:22659199
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. PMID:22649220
Epi4K: gene discovery in 4,000 genomes. PMID:22642626
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. PMID:22611130
Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria. PMID:22606059
Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease. PMID:22583432
Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association. PMID:22567369
Bioinformatics and variability in drug response: a protein structural perspective. PMID:22552919
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. PMID:22552817
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts. PMID:22526844
New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing. PMID:22426219
Genetics of human cardiovascular disease. PMID:22424232
In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B. PMID:22423892
Insights into hominid evolution from the gorilla genome sequence. PMID:22398555
Construction and analysis of the protein-protein interaction networks for schizophrenia, bipolar disorder, and major depression. PMID:22373040
DNA sequencing: clinical applications of new DNA sequencing technologies. PMID:22354974
Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes. PMID:22353194
Predicting the effects of frameshifting indels. PMID:22322200
Whole genome sequences of a male and female supercentenarian, ages greater than 114 years. PMID:22303384
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. PMID:22277967
Three-dimensional reconstruction of protein networks provides insight into human genetic disease. PMID:22252508
Rare and common variants: twenty arguments. PMID:22251874
Bioinformatics for personal genome interpretation. PMID:22247263
Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele. PMID:22241680
The QTN program and the alleles that matter for evolution: all that's gold does not glitter. PMID:22220860
Personalized oncology through integrative high-throughput sequencing: a pilot study. PMID:22133722
Sequence shortening in the rodent ancestor. PMID:22128134
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. PMID:22090377
New frontiers of primary antibody deficiencies. PMID:22042269
Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene. PMID:22022403
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T). PMID:21972175
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. PMID:21901791
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. PMID:21853507
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations. PMID:21807602
Prediction of functional regulatory SNPs in monogenic and complex disease. PMID:21796725
Identification of genomic indels and structural variations using split reads. PMID:21787423
Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations. PMID:21764165
A new disease-specific machine learning approach for the prediction of cancer-causing missense variants. PMID:21763417
Familial forms of diabetes insipidus: clinical and molecular characteristics. PMID:21727914
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease. PMID:21712188
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy. PMID:21681857
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. PMID:21679407
RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family. PMID:21655256
Heterologous overexpression and mutagenesis of the human bile salt export pump (ABCB11) using DREAM (Directed REcombination-Assisted Mutagenesis). PMID:21655228
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. PMID:21643010
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. PMID:21599986
Deep mutational scanning: assessing protein function on a massive scale. PMID:21561674
Genomic contributions to Mendelian disease. PMID:21536725
Saturation of the human phenome. PMID:21532833
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. PMID:21520341
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. PMID:21519523
Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity. PMID:21457906
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. PMID:21442341
Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain. PMID:21348451
High-throughput structural biology of metabolic enzymes and its impact on human diseases. PMID:21340633
Exploring the potential relevance of human-specific genes to complex disease. PMID:21296743
Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells. PMID:21285356
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations. PMID:21258063
Genetic modifiers of neurological disease. PMID:21251811
Carrier testing for severe childhood recessive diseases by next-generation sequencing. PMID:21228398
The interplay between evolution, regulation and tissue specificity in the Human Hereditary Diseasome. PMID:21143807
Prospects for the automated extraction of mutation data from the scientific literature. PMID:21106485
Comprehensive approach to analyzing rare genetic variants. PMID:21072163
Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association. PMID:21042586
High-throughput discovery of rare insertions and deletions in large cohorts. PMID:21041413
Genotator: a disease-agnostic tool for genetic annotation of disease. PMID:21034472
Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S. PMID:20980259
Malformation syndromes caused by disorders of cholesterol synthesis. PMID:20929975
DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites. PMID:20929868
Neuroinformatics in clinical and translational medicine--novel approaches. PMID:20924724
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. PMID:20886637
Massively parallel sequencing and rare disease. PMID:20846941
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. PMID:20846930
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene. PMID:20846927
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. PMID:20818383
Molecular mechanistic associations of human diseases. PMID:20815942
Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes. PMID:20650817
A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene. PMID:20625407
Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease. PMID:20551136
Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells. PMID:20526001
The use of orthologous sequences to predict the impact of amino acid substitutions on protein function. PMID:20523748
The mutation spectrum revealed by paired genome sequences from a lung cancer patient. PMID:20505728
Uncovering the roles of rare variants in common disease through whole-genome sequencing. PMID:20479773
Clinical assessment incorporating a personal genome. PMID:20435227
A comprehensive survey of human polymorphisms at conserved splice dinucleotides and its evolutionary relationship with alternative splicing. PMID:20433709
Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases. PMID:20360267
Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. PMID:20210993
Network-based elucidation of human disease similarities reveals common functional modules enriched for pluripotent drug targets. PMID:20140234
Metabolic syndrome components in murine models. PMID:20088816
Genetics of bronchopulmonary dysplasia in the age of genomics. PMID:20087186
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. PMID:20052766
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. PMID:20052762
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. PMID:20038494
COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System. PMID:19958500
Exome sequencing identifies the cause of a mendelian disorder. PMID:19915526
Loss of post-translational modification sites in disease. PMID:19908386
microRNAs and genetic diseases. PMID:19889204
Next generation sequence analysis for mitochondrial disorders. PMID:19852779
Automated inference of molecular mechanisms of disease from amino acid substitutions. PMID:19734154
Collection of variation causing disease--the Human Variome Project. PMID:19706360
Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. PMID:19466456
Human Gene Mutation Database: towards a comprehensive central mutation database PubMed citations: 45.

45 articles citing: Human Gene Mutation Database: towards a comprehensive central mutation database

Small molecule inhibition of ATM kinase increases CRISPR-Cas9 1-bp insertion frequency. PMID:34433825
Efficient C•G-to-G•C base editors developed using CRISPRi screens, target-library analysis, and machine learning. PMID:34183861
Insights into Aldehyde Dehydrogenase Enzymes: A Structural Perspective. PMID:34055881
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. PMID:32084271
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. PMID:31660654
Predictable and precise template-free CRISPR editing of pathogenic variants. PMID:30405244
A literature review at genome scale: improving clinical variant assessment. PMID:29388949
Principles and methods of in-silico prioritization of non-coding regulatory variants. PMID:29288389
RAS Proteins and Their Regulators in Human Disease. PMID:28666118
Leveraging Online Resources to Prioritize Candidate Genes for Functional Analyses: Using the Fetal Testis as a Test Case. PMID:28196369
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. PMID:28089114
Impact of disease-Linked mutations targeting the oligomerization interfaces of aldehyde dehydrogenase 7A1. PMID:28087462
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
Association of Lecithin Cholesterol Acyltransferase rs5923 Polymorphism in Iranian Individuals with Extremely Low High-Density Lipoprotein Cholesterol: Tehran Lipid and Glucose Study. PMID:26117245
Insights into Disease-Associated Mutations in the Human Proteome through Protein Structural Analysis. PMID:26027735
Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver. PMID:25706643
Copy number variations in a population-based study of Charcot-Marie-Tooth disease. PMID:25648254
SG-ADVISER CNV: copy-number variant annotation and interpretation. PMID:25521334
Correlating In Vitro Splice Switching Activity With Systemic In Vivo Delivery Using Novel ZEN-modified Oligonucleotides. PMID:25423116
Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset. PMID:24348229
Improved exome prioritization of disease genes through cross-species phenotype comparison. PMID:24162188
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. PMID:24075186
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. PMID:23771920
Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. PMID:23770607
Effect of single amino acid substitution observed in cancer on Pim-1 kinase thermodynamic stability and structure. PMID:23755147
Deep whole-genome sequencing of 100 southeast Asian Malays. PMID:23290073
Structural stability of human protein tyrosine phosphatase ρ catalytic domain: effect of point mutations. PMID:22389709
Genetic mapping and exome sequencing identify variants associated with five novel diseases. PMID:22279524
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. PMID:22155606
Loss of exon identity is a common mechanism of human inherited disease. PMID:21750108
ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis. PMID:21120685
Prefoldin 5 is required for normal sensory and neuronal development in a murine model. PMID:20956523
Do-it-yourself genetic testing. PMID:20932271
MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data. PMID:20542913
Phenotype ontologies for mouse and man: bridging the semantic gap. PMID:20427557
A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements. PMID:20067640
Correlating protein function and stability through the analysis of single amino acid substitutions. PMID:19758472
Improved mutation tagging with gene identifiers applied to membrane protein stability prediction. PMID:19758467
Multiplex padlock targeted sequencing reveals human hypermutable CpG variations. PMID:19525355
Mobile elements create structural variation: analysis of a complete human genome. PMID:19439515
Analytical methods for inferring functional effects of single base pair substitutions in human cancers. PMID:19434427
Planning the human variome project: the Spain report. PMID:19306394
Next generation tools for the annotation of human SNPs. PMID:19181721
MDPD: an integrated genetic information resource for Parkinson's disease. PMID:18948286
The solution structure of DNA-free Pax-8 paired box domain accounts for redox regulation of transcriptional activity in the pax protein family. PMID:18829450

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genetic variation
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human biology
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pathology
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data integration and warehousing
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BGMUT

Parkinson Disease Mutation Database

IARC TP53 Database

Alzheimer Disease & Frontotemporal Dementia Mutation Database

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GeneCards: human genes, protein and diseases

COEUS

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Pharmacogenomics Knowledge Base

IGDD

Androgen Receptor Mutations Database

DISNOR

Cypriot national mutation database

Catalogue of Somatic Mutations in Cancer

ALSoD

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HDAM

Human Phenotype Ontology

Orphanet Rare Diseases Ontology

Cystic Fibrosis Mutation Database

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BGMUT

Parkinson Disease Mutation Database

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Open Targets

GeneCards: human genes, protein and diseases

COEUS

Entrez

Pharmacogenomics Knowledge Base

IGDD

Androgen Receptor Mutations Database

DISNOR

Cypriot national mutation database

Catalogue of Somatic Mutations in Cancer

ALSoD

InterMine

HDAM

Human Phenotype Ontology

Orphanet Rare Diseases Ontology

Cystic Fibrosis Mutation Database

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