R3993T last accessed: 2022-11-04

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.873620

lovd
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.873620

Other names: LOVD, lovd

The Leiden Open Variation Database (LOVD) provides a flexible, freely available tool for gene-centered collection and display of DNA variations. LOVD also stores patient-centered data, NGS data, and variants outside of genes.

Webpage:

https://www.lovd.nl/3.0/home

Licence:

Name: other
URL: https://www.lovd.nl/3.0/docs/LOVD_manual_3.0.pdf

Publications:

Publications
More detailed information about this field from each metasource.

LOVD v.2.0: the next generation in gene variant databases
PMID: 21520333
metasource: Fairsharing.org
version: FAIRsharing.org: LOVD; Leiden Open Variation Database; DOI: https://doi.org/10.25504/FAIRsharing.21tjj7; Last edited: March 18, 2021, 10:22 a.m.; Last accessed: Jan 03 2022 7:05 p.m.

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
PMID: 15977173
metasource: Fairsharing.org
version: FAIRsharing.org: LOVD; Leiden Open Variation Database; DOI: https://doi.org/10.25504/FAIRsharing.21tjj7; Last edited: March 18, 2021, 10:22 a.m.; Last accessed: Jan 03 2022 7:05 p.m.

http://dx.doi.org/10.1002/humu.21438
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.873620

LOVD v.2.0: the next generation in gene variant databases PubMed citations: 425.

425 articles citing: LOVD v.2.0: the next generation in gene variant databases

Structure-based prediction of BRAF mutation classes using machine-learning approaches. PMID:35869122
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone. PMID:35847480
Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy. PMID:35846917
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease. PMID:35806195
Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis. PMID:35805150
Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome. PMID:35789182
Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review. PMID:35741767
Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations. PMID:35726567
Founder BRCA1 mutations in Nepalese population. PMID:35698740
Spontaneous reshaping of vertebral fractures in an adolescent with osteogenesis imperfecta. PMID:35693066
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome. PMID:35682590
Pan-cancer analysis of genomic scar patterns caused by homologous repair deficiency (HRD). PMID:35681079
Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study. PMID:35532199
Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs. PMID:35463004
Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing. PMID:35428841
A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family. PMID:35402469
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex. PMID:35358092
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines. PMID:35328090
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant. PMID:35327962
MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations. PMID:35323929
Variomes: a high recall search engine to support the curation of genomic variants. PMID:35274687
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature. PMID:35233476
Evolutionary Genetic Signatures of Selection on Bone-Related Variation within Human and Chimpanzee Populations. PMID:35205228
Background splicing as a predictor of aberrant splicing in genetic disease. PMID:35188075
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome. PMID:35177655
Mutational analysis of driver genes defines the colorectal adenoma: in situ carcinoma transition. PMID:35173208
Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs. PMID:35167647
Somatic mutations in collagens are associated with a distinct tumor environment and overall survival in gastric cancer. PMID:35120467
BRCA1/2 mutation spectrum in Chinese early-onset breast cancer. PMID:35116780
A clinician's guide to omics resources in dermatology. PMID:35104371
PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports. PMID:35087773
Analytical Validation and Performance of a 7-Gene Next-Generation Sequencing Panel in Uveal Melanoma. PMID:35083209
Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort. PMID:35070997
Analysis of 272 Genetic Variants in the Upgraded Interactive FXI Web Database Reveals New Insights into FXI Deficiency. PMID:35059554
Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas. PMID:35053433
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. PMID:35052493
A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins. PMID:34982829
Intellectual disability genomics: current state, pitfalls and future challenges. PMID:34930158
Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant. PMID:34912368
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease. PMID:34906245
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
Integration and Visualization of Regulatory Elements and Variations of the EPAS1 Gene in Human. PMID:34828399
The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease. PMID:34768969
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
Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso. PMID:34717758
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. PMID:34702355
Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients. PMID:34677667
Splice correction therapies for familial hypercholesterolemic patients with low-density lipoprotein receptor mutations. PMID:34653074
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation. PMID:34602953
Molecular Features of Parkinson's Disease in Patient-Derived Midbrain Dopaminergic Neurons. PMID:34564901
The LOVD3 platform: efficient genome-wide sharing of genetic variants. PMID:34521998
Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma. PMID:34439371
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I. PMID:34427956
Measuring and interpreting pervasive heterogeneity, poikilosis. PMID:34377957
A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype. PMID:34355126
ACO2 clinicobiological dataset with extensive phenotype ontology annotation. PMID:34354088
Ten simple rules for teaching applied programming in an authentic and immersive online environment. PMID:34351897
Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis. PMID:34349782
Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan. PMID:34343365
Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. PMID:34277001
New approaches to predict the effect of co-occurring variants on protein characteristics. PMID:34256028
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. PMID:34234266
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. PMID:34230634
Genomic Association vs. Serological Determination of ABO Blood Types in a Chinese Cohort, with Application in Mendelian Randomization. PMID:34202464
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. PMID:34111421
Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1. PMID:34080803
Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript. PMID:34067464
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia? PMID:34040899
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. PMID:34020708
The Longitudinal Early-onset Alzheimer's Disease Study (LEADS): Framework and methodology. PMID:34018654
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population. PMID:33917198
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants. PMID:33884488
Clinical delineation of SETBP1 haploinsufficiency disorder. PMID:33867525
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. PMID:33799353
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia. PMID:33779842
A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis. PMID:33740971
Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian. PMID:33725819
Identification of a Novel Pathogenic Rearrangement Variant of the APC Gene Associated with a Variable Spectrum of Familial Cancer. PMID:33670908
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies. PMID:33623043
Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing. PMID:33606250
Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency. PMID:33560599
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy. PMID:33542429
Next Generation HGVS Nomenclature Checker. PMID:33538839
Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis. PMID:33534944
Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration. PMID:33507217
A rare large duplication of MLH1 identified in Lynch syndrome. PMID:33468175
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. PMID:33452270
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. PMID:33442024
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. PMID:33439542
The case for open science: rare diseases. PMID:33426479
Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic. PMID:33414972
Vulnerability to low-dose combination of irinotecan and niraparib in ATM-mutated colorectal cancer. PMID:33407715
Erythrocytosis: genes and pathways involved in disease development. PMID:33370224
Human embryonic stem cell-derived organoid retinoblastoma reveals a cancerous origin. PMID:33318192
T lymphocytes from malignant hyperthermia-susceptible mice display aberrations in intracellular calcium signaling and mitochondrial function. PMID:33310301
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification. PMID:33302505
KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses. PMID:33287903
HK022 bacteriophage Integrase mediated RMCE as a potential tool for human gene therapy. PMID:33270859
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals. PMID:33252176
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. PMID:33250842
The UCSC Genome Browser database: 2021 update. PMID:33221922
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. PMID:33203024
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization. PMID:33167498
MobiDetails: online DNA variants interpretation. PMID:33161418
Whole Exome Sequencing of SMO, BRAF, PTCH1 and GNAS in Odontogenic Diseases. PMID:33144428
Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. PMID:33125055
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort. PMID:33096615
Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation. PMID:33034563
A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype. PMID:33029437
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing. PMID:32985468
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. PMID:32973342
Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients. PMID:32970752
Systematics for types and effects of RNA variations. PMID:32951567
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging. PMID:32943091
Clinical impact of genomic testing in patients with suspected monogenic kidney disease. PMID:32939031
Structural models of human ACE2 variants with SARS-CoV-2 Spike protein for structure-based drug design. PMID:32938937
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy. PMID:32936536
Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study. PMID:32806537
Recent advances of automated methods for searching and extracting genomic variant information from biomedical literature. PMID:32770181
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report. PMID:32746785
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach. PMID:32635232
Detecting pathogenic variants in autoimmune diseases using high-throughput sequencing. PMID:32623783
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants. PMID:32612247
Loqusdb: added value of an observations database of local genomic variation. PMID:32611382
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. PMID:32596782
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients. PMID:32575496
Deleterious mis-splicing of STK11 caused by a novel single-nucleotide substitution in the 3' polypyrimidine tract of intron five. PMID:32573125
Tools for Evolutionary and Genetic Analysis (TEGA): A new platform for the management of molecular and environmental data. PMID:32478790
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
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome. PMID:32457516
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers. PMID:32398773
Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts. PMID:32391301
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants. PMID:32313033
Molecular Trajectory of BRCA1 and BRCA2 Mutations. PMID:32269964
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer. PMID:32260281
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES). PMID:32214004
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders? PMID:32176652
Clinical Interpretation of Sequence Variants. PMID:32176464
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. PMID:32170000
In Silico Insights into Protein-protein Interaction Disruptive Mutations in the PCSK9-LDLR complex. PMID:32106405
Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy. PMID:32086799
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase. PMID:32080367
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes. PMID:32048431
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. PMID:32027066
Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS. PMID:32001840
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients. PMID:31960911
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy. PMID:31931689
Hermansky-Pudlak syndrome: Mutation update. PMID:31898847
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. PMID:31896777
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient. PMID:31893083
Genomic variant sharing: a position statement. PMID:31886409
Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies. PMID:31857740
Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM). PMID:31856217
Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose. PMID:31855248
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. PMID:31820119
The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research. PMID:31766582
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study. PMID:31719132
Attenuated familial adenomatous polyposis (AFAP) in a patient associated with a novel mutation in APC. PMID:31712236
Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease. PMID:31680973
MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect. PMID:31679514
An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I. PMID:31662300
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. PMID:31660661
Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients. PMID:31547110
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group. PMID:31517176
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database. PMID:31500643
Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity. PMID:31454184
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. PMID:31439692
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. PMID:31433103
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex. PMID:31374812
Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome. PMID:31372034
Loss of the PTCH1 tumor suppressor defines a new subset of plexiform fibromyxoma. PMID:31362756
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. PMID:31343788
Prioritization of Variants for Investigation of Genotype-Directed Nutrition in Human Superpopulations. PMID:31323740
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis. PMID:31320747
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease. PMID:31308240
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. PMID:31294896
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing. PMID:31285513
VIPdb, a genetic Variant Impact Predictor Database. PMID:31283070
Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles. PMID:31260137
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project. PMID:31256874
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets. PMID:31235655
A pilot study of the implementation of pharmacogenomic pharmacist initiated pre-emptive testing in primary care. PMID:31227807
Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing? PMID:31179125
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. PMID:31159747
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. PMID:31127036
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. PMID:31114901
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis. PMID:31077556
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
Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases. PMID:30945166
Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. PMID:30931400
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project. PMID:30915099
Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis. PMID:30833417
Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families. PMID:30820146
Molecular modeling of LDLR aids interpretation of genomic variants. PMID:30778614
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. PMID:30744660
Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism. PMID:30705665
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. PMID:30702160
Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population. PMID:30633749
UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases. PMID:30614601
Systematics for types and effects of DNA variations. PMID:30591019
TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism. PMID:30586926
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PMID:30586411
Ensembl variation resources. PMID:30576484
Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India. PMID:30555256
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. PMID:30552426
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. PMID:30507031
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature. PMID:30455901
Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy. PMID:30439648
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients. PMID:30373198
ACTA1 Novel Likely Pathogenic Variant in a Family With Dilated Cardiomyopathy. PMID:30354303
ClinGen Allele Registry links information about genetic variants. PMID:30311374
Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture. PMID:30274822
Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. PMID:30221735
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration. PMID:30215852
The prognostic effects of somatic mutations in ER-positive breast cancer. PMID:30181556
hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update. PMID:30129167
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. PMID:30119649
Ras-Specific GTPase-Activating Proteins-Structures, Mechanisms, and Interactions. PMID:30104198
Computational resources associating diseases with genotypes, phenotypes and exposures. PMID:30102366
Variants in the ABCA4 gene in a Brazilian population with Stargardt disease. PMID:30093795
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. PMID:30089820
Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct. PMID:30086623
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort. PMID:30060493
Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. PMID:30058937
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. PMID:30047259
CDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations. PMID:30038052
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities. PMID:30032985
Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum. PMID:29975249
Hereditary breast and ovarian cancer in Andalusian families: a genetic population study. PMID:29884136
Genotype and Outcome After Kidney Transplantation in Alport Syndrome. PMID:29854973
Somatic mutations in early onset luminal breast cancer. PMID:29854292
Targeting cancer's metabolic co-dependencies: A landscape shaped by genotype and tissue context. PMID:29775654
A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2. PMID:29713557
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population. PMID:29706639
A pathogenic role for germline PTEN variants which accumulate into the nucleus. PMID:29706633
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases. PMID:29704307
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. PMID:29688405
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer. PMID:29659569
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers. PMID:29641532
Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices. PMID:29479477
Effects of cytochrome P450 single nucleotide polymorphisms on methadone metabolism and pharmacodynamics. PMID:29458047
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family. PMID:29456477
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation. PMID:29422768
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. PMID:29392890
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. PMID:29358613
The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition. PMID:29338003
Precision oncology in the age of integrative genomics. PMID:29319699
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. PMID:29309402
A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia. PMID:29304759
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. PMID:29068161
Novel mutations in Darier disease and association to self-reported disease severity. PMID:29028823
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. PMID:28927399
Gene panel sequencing in Brazilian patients with retinitis pigmentosa. PMID:28912962
A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation. PMID:28872160
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. PMID:28832562
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. PMID:28759686
Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder. PMID:28758966
Genetics in an isolated population like Finland: a different basis for genomic medicine? PMID:28730583
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). PMID:28726806
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. PMID:28552198
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. PMID:28475856
Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families. PMID:28460491
Lost in translation: returning germline genetic results in genome-scale cancer research. PMID:28454591
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients. PMID:28445943
PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories. PMID:28438193
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia. PMID:28432734
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. PMID:28423363
The human retinoblastoma susceptibility gene (RB1): an evolutionary story in primates. PMID:28401291
ABCMdb reloaded: updates on mutations in ATP binding cassette proteins. PMID:28365738
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
Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN-amplified retinoblastoma. PMID:28211617
De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. PMID:28193182
The current state of clinical interpretation of sequence variants. PMID:28157586
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification. PMID:28146134
New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. PMID:28123174
A variant by any name: quantifying annotation discordance across tools and clinical databases. PMID:28122645
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. PMID:28067909
Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene. PMID:28058407
Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing. PMID:28044414
The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA. PMID:27998977
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. PMID:27993330
Multimodal Imaging of Photoreceptor Structure in Choroideremia. PMID:27936069
Increasing Role of Titin Mutations in Neuromuscular Disorders. PMID:27854229
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update. PMID:27821657
Long-Range Signaling in MutS and MSH Homologs via Switching of Dynamic Communication Pathways. PMID:27768684
Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. PMID:27621404
The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy. PMID:27612425
Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders. PMID:27580923
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). PMID:27499327
Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis. PMID:27493206
Missense splice variant (g.20746A>G, p.Ile183Val) of interferon gamma receptor 1 (IFNGR1) coincidental with mycobacterial osteomyelitis - a screen of osteoarticular lesions. PMID:27356097
The locked genomes: A perspective from Arabia. PMID:27294028
The need to redefine genomic data sharing: A focus on data accessibility. PMID:27294022
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. PMID:27279923
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
Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis. PMID:27217144
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. PMID:27142102
A Clinician's perspective on clinical exome sequencing. PMID:27126233
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. PMID:27067391
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. PMID:27065010
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. PMID:26938784
Neurogenomics: An Egyptian perspective. PMID:26937353
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders. PMID:26934356
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine. PMID:26931283
Human Variome Project Quality Assessment Criteria for Variation Databases. PMID:26919176
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. PMID:26919060
Harmonizing the interpretation of genetic variants across the world: the Malaysian experience. PMID:26915360
Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients. PMID:26909336
A structured interdomain linker directs self-polymerization of human uromodulin. PMID:26811476
Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB. PMID:26749241
126 novel mutations in Italian patients with neurofibromatosis type 1. PMID:26740943
SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery. PMID:26719882
The European Bioinformatics Institute in 2016: Data growth and integration. PMID:26673705
A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment. PMID:26648831
Lessons learned from gene identification studies in Mendelian epilepsy disorders. PMID:26603999
The UCSC Genome Browser database: 2016 update. PMID:26590259
Comparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancer. PMID:26587011
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. PMID:26545377
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. PMID:26507355
DIDA: A curated and annotated digenic diseases database. PMID:26481352
An automated real-time integration and interoperability framework for bioinformatics. PMID:26464306
Computational approaches to study the effects of small genomic variations. PMID:26350246
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. PMID:26306646
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing. PMID:26289954
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. PMID:26285866
Genetic, environmental, and epigenetic factors involved in CAKUT. PMID:26281895
Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned. PMID:26275867
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes. PMID:26229552
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER. PMID:26220709
Cpipe: a shared variant detection pipeline designed for diagnostic settings. PMID:26217397
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. PMID:26147992
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. PMID:26106619
STAG3 truncating variant as the cause of primary ovarian insufficiency. PMID:26059840
A conserved sugar bridge connected to the WSXWS motif has an important role for transport of IL-21R to the plasma membrane. PMID:26043171
Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies. PMID:26042512
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. PMID:26029707
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing. PMID:26014432
The road from next-generation sequencing to personalized medicine. PMID:26000024
Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC). PMID:25985877
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. PMID:25898929
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? PMID:25898921
Personalized genomic analyses for cancer mutation discovery and interpretation. PMID:25877891
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing. PMID:25862482
Standard development at the Human Variome Project. PMID:25818894
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. PMID:25782689
Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression. PMID:25762362
Biological databases for human research. PMID:25712261
Variant interpretation through Bayesian fusion of frequency and genomic knowledge. PMID:25632303
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. PMID:25626705
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations. PMID:25604157
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. PMID:25542617
The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis. PMID:25505789
A proposed clinical decision support architecture capable of supporting whole genome sequence information. PMID:25411644
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations. PMID:25394176
Whole-genome sequencing of the world's oldest people. PMID:25390934
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease. PMID:25384529
Integrative data mining highlights candidate genes for monogenic myopathies. PMID:25353622
Ensembl 2015. PMID:25352552
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. PMID:25305082
Cordova: web-based management of genetic variation data. PMID:25123904
Preserving sequence annotations across reference sequences. PMID:25093075
IthaGenes: an interactive database for haemoglobin variations and epidemiology. PMID:25058394
The challenges of genome analysis in the health care setting. PMID:25055201
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. PMID:25029978
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. PMID:25007885
The ontology of genetic susceptibility factors (OGSF) and its application in modeling genetic susceptibility to vaccine adverse events. PMID:24963371
Unique molecular signatures as a hallmark of patients with metastatic breast cancer: implications for current treatment paradigms. PMID:24811890
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. PMID:24784157
Guidelines for investigating causality of sequence variants in human disease. PMID:24759409
The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals. PMID:24743384
Copy number variation in hereditary non-polyposis colorectal cancer. PMID:24705261
Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese. PMID:24651309
Implementation of biomarker-driven cancer therapy: existing tools and remaining gaps. PMID:24534473
Variation ontology: annotator guide. PMID:24533660
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. PMID:24532482
Integrated analysis of germline and somatic variants in ovarian cancer. PMID:24448499
Free the Data. PMID:24401097
Annotating DNA variants is the next major goal for human genetics. PMID:24387988
Ensembl 2014. PMID:24316576
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. PMID:24307375
Status quo of annotation of human disease variants. PMID:24305467
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants. PMID:24285302
The UCSC Genome Browser database: 2014 update. PMID:24270787
Using exome data to identify malignant hyperthermia susceptibility mutations. PMID:24195946
Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory. PMID:24193344
Variation Ontology for annotation of variation effects and mechanisms. PMID:24162187
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. PMID:24150940
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. PMID:24137000
Congenital long QT syndrome with compound mutations in the KCNH2 gene. PMID:24057343
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. PMID:24052634
Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients. PMID:24040339
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome. PMID:23981649
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
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. PMID:23800802
Genes and mutations causing retinitis pigmentosa. PMID:23701314
Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications. PMID:23700267
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
MitoLSDB: a comprehensive resource to study genotype to phenotype correlations in human mitochondrial DNA variations. PMID:23585830
Annotating the biomedical literature for the human variome. PMID:23584833
The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. PMID:23443670
The curation of genetic variants: difficulties and possible solutions. PMID:23317699
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms. PMID:23234264
Ensembl 2013. PMID:23203987
VarioML framework for comprehensive variation data representation and exchange. PMID:23031277
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. PMID:22968136
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
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes. PMID:22826540
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. PMID:22753090
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. PMID:22715153
Novel pathogenic mutations in the glucocerebrosidase locus. PMID:22658918
Toward a mtDNA locus-specific mutation database using the LOVD platform. PMID:22581690
Towards linked open gene mutations data. PMID:22536974
Germline BRCA1 mutations increase prostate cancer risk. PMID:22516946
UASIS: Universal Automatic SNP Identification System. PMID:22369494
Reporting of Genetic Variants by Diagnostic Laboratories and other Centres. PMID:22363095
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K. PMID:22200116
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form. PMID:21992071
Clarity and claims in variation/mutation databasing. PMID:21904316
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. PMID:21901789
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach PubMed citations: 93.

93 articles citing: LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. PMID:35651951
Genome interpretation using in silico predictors of variant impact. PMID:35488922
National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review. PMID:35328109
Three decades of the Human Genome Organization. PMID:34581472
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies. PMID:34327816
ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene. PMID:33886091
Genetic basis of hypercholesterolemia in adults. PMID:33854068
Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia. PMID:33732287
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. PMID:33203024
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
VitiVar: A locus specific database of vitiligo associated genes and variations. PMID:32550548
Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation. PMID:32257056
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. PMID:31888296
Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. PMID:31645972
The giant titin: how to evaluate its role in cardiomyopathies. PMID:31147888
Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients. PMID:30781664
p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro. PMID:30413722
Spontaneous severe hypercholesterolemia and atherosclerosis lesions in rabbits with deficiency of low-density lipoprotein receptor (LDLR) on exon 7. PMID:30243490
Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese. PMID:29802317
NDDVD: an integrated and manually curated Neurodegenerative Diseases Variation Database. PMID:29688368
Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy. PMID:29367539
The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition. PMID:29338003
Precision oncology in the age of integrative genomics. PMID:29319699
The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry. PMID:28868092
Plasma PCSK9 levels are unrelated to arterial stiffness in a community-based, 4.8-year prospective study. PMID:28816230
PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories. PMID:28438193
Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated Retinopathy. PMID:28322733
Next-generation sequencing in familial breast cancer patients from Lebanon. PMID:28202063
A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data. PMID:28070503
Identification of roles for H264, H306, H439, and H635 in acid-dependent lipoprotein release by the LDL receptor. PMID:27895090
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
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine. PMID:26931283
Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case. PMID:26555092
Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PMID:26332594
Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies. PMID:26042512
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. PMID:25692139
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease. PMID:25384529
Genetic counseling in direct-to-consumer exome sequencing: a case report. PMID:24954083
An unusual case of familial adenomatous polyposis with very early symptom occurrence. PMID:24770791
SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature. PMID:24689071
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. PMID:24507775
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. PMID:23936638
Interpreting secondary cardiac disease variants in an exome cohort. PMID:23861362
Genetic screening for homozygous and heterozygous familial hypercholesterolemia. PMID:23776359
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. PMID:23720012
Knowledge discovery in variant databases using inductive logic programming. PMID:23589683
MitoLSDB: a comprehensive resource to study genotype to phenotype correlations in human mitochondrial DNA variations. PMID:23585830
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database. PMID:23430897
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
Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis. PMID:22849591
Interpretation of genetic testing: variants of unknown significance. PMID:22810825
How genetic variant libraries effectively extend gene testing patents: implications for intellectual property and good clinical care. PMID:22802312
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database. PMID:22776072
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. PMID:22703879
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. PMID:22144684
Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. PMID:21990165
New mutations in the ATM gene and clinical data of 25 AT patients. PMID:21965147
Clinical course of cone dystrophy caused by mutations in the RPGR gene. PMID:21866333
Familial colorectal cancer: eleven years of data from a registry program in Switzerland. PMID:21671081
The case for locus-specific databases. PMID:21540879
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. PMID:21423179
Modeling of the DNA-binding site of yeast Pms1 by mass spectrometry. PMID:21354867
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. PMID:21131976
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. PMID:21089065
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. PMID:20960466
Gene variants associated to malignant thyroid disease in familial adenomatous polyposis: a novel APC germline mutation. PMID:20935450
Exon-skipped dystrophins for treatment of Duchenne muscular dystrophy: mass spectrometry mapping of most exons and cooperative domain designs based on single molecule mechanics. PMID:20886611
LQTS gene LOVD database. PMID:20809527
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. PMID:20717164
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome. PMID:20704743
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). PMID:20683926
Human variation databases. PMID:20639550
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. PMID:20598277
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. PMID:20398331
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. PMID:20145306
COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System. PMID:19958500
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. PMID:19781108
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. PMID:19747374
Collection of variation causing disease--the Human Variome Project. PMID:19706360
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. PMID:19562744
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. PMID:19527492
MUTYH Associated Polyposis (MAP). PMID:19506731
Planning the human variome project: the Spain report. PMID:19306394
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma. PMID:19190077
GENETICS. The Human Variome Project. PMID:18988827
Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan. PMID:18535179
Transcription factor FIGLA is mutated in patients with premature ovarian failure. PMID:18499083
VariVis: a visualisation toolkit for variation databases. PMID:18430251
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. PMID:18366737
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. PMID:18330676
Recommendations for locus-specific databases and their curation. PMID:18157828
Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy. PMID:17596655
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. PMID:16288654
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metasource: Fairsharing.org
version: FAIRsharing.org: LOVD; Leiden Open Variation Database; DOI: https://doi.org/10.25504/FAIRsharing.21tjj7; Last edited: March 18, 2021, 10:22 a.m.; Last accessed: Jan 03 2022 7:05 p.m.

disease
metasource: Fairsharing.org
version: FAIRsharing.org: LOVD; Leiden Open Variation Database; DOI: https://doi.org/10.25504/FAIRsharing.21tjj7; Last edited: March 18, 2021, 10:22 a.m.; Last accessed: Jan 03 2022 7:05 p.m.

gene
metasource: Fairsharing.org
version: FAIRsharing.org: LOVD; Leiden Open Variation Database; DOI: https://doi.org/10.25504/FAIRsharing.21tjj7; Last edited: March 18, 2021, 10:22 a.m.; Last accessed: Jan 03 2022 7:05 p.m.

genetic disorder
metasource: Fairsharing.org
version: FAIRsharing.org: LOVD; Leiden Open Variation Database; DOI: https://doi.org/10.25504/FAIRsharing.21tjj7; Last edited: March 18, 2021, 10:22 a.m.; Last accessed: Jan 03 2022 7:05 p.m.

genetic polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: LOVD; Leiden Open Variation Database; DOI: https://doi.org/10.25504/FAIRsharing.21tjj7; Last edited: March 18, 2021, 10:22 a.m.; Last accessed: Jan 03 2022 7:05 p.m.

phenotype
metasource: Fairsharing.org
version: FAIRsharing.org: LOVD; Leiden Open Variation Database; DOI: https://doi.org/10.25504/FAIRsharing.21tjj7; Last edited: March 18, 2021, 10:22 a.m.; Last accessed: Jan 03 2022 7:05 p.m.

sequence variant
metasource: Fairsharing.org
version: FAIRsharing.org: LOVD; Leiden Open Variation Database; DOI: https://doi.org/10.25504/FAIRsharing.21tjj7; Last edited: March 18, 2021, 10:22 a.m.; Last accessed: Jan 03 2022 7:05 p.m.

dna variations
metasource: re3data.org
version: re3data.org: Leiden Open Variation Database; editing status 2021-11-22; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3993T last accessed: 2022-11-04

biology
metasource: re3data.org
version: re3data.org: Leiden Open Variation Database; editing status 2021-11-22; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3993T last accessed: 2022-11-04

gene databases
metasource: re3data.org
version: re3data.org: Leiden Open Variation Database; editing status 2021-11-22; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3993T last accessed: 2022-11-04

gene transcripts
metasource: re3data.org
version: re3data.org: Leiden Open Variation Database; editing status 2021-11-22; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3993T last accessed: 2022-11-04

human genetics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.873620

functional genomics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.873620

genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.873620

rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.873620

dna disease gene genetic disorder polymorphism phenotype sequence variant dna variations gene gene transcripts human genetics functional genomics genetic variation rare diseases

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SERPING1

The USH1C mutations database

OPA1

Human Genetic Variation Database

Chicken Variation Database

Pharmacogenomics Knowledge Base

European Variation Archive

Polymorphism in microRNAs and their TargetSites

Database of Genomic Variants

Bovine Genome Variation Database (BGVD)

FINDbase

ClinVar

Database of genomic structural VARiation

CCDB

UCSC Genome Browser database

DVD

Database of Single Nucleotide Polymorphism

Ensembl Genomes

MutDB

NCBI Gene