FAIRsharing.l8Sf5x; Last edited: Jan. 8, 2019, 1:26 p.m.; Last accessed: Jan 03 2022 7:07 p.m.

metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

Other names: DECIPHER

DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) is an interactive web-based resource that incorporates a suite of tools designed to aid the interpretation of submicroscopic chromosomal imbalance, inversions, and translocations.

Webpage:

https://decipher.sanger.ac.uk/

Licence:

Name: DECIPHER Data Sharing
URL: https://decipher.sanger.ac.uk/datasharing

Publications:

Publications
More detailed information about this field from each metasource.

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
PMID: 19344873
metasource: Fairsharing.org
version: FAIRsharing.org: DECIPHER; DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources; DOI: https://doi.org/10.25504/FAIRsharing.l8Sf5x; Last edited: Jan. 8, 2019, 1:26 p.m.; Last accessed: Jan 03 2022 7:07 p.m.

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
PMID: 24150940
metasource: Fairsharing.org
version: FAIRsharing.org: DECIPHER; DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources; DOI: https://doi.org/10.25504/FAIRsharing.l8Sf5x; Last edited: Jan. 8, 2019, 1:26 p.m.; Last accessed: Jan 03 2022 7:07 p.m.

http://dx.doi.org/10.1093/nar/gkt937
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources PubMed citations: 696.

696 articles citing: DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease. PMID:35885957
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory. PMID:35869530
SMOC2 promotes an epithelial-mesenchymal transition and a pro-metastatic phenotype in epithelial cells of renal cell carcinoma origin. PMID:35869056
Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers. PMID:35735171
The Role of Vti1a in Biological Functions and Its Possible Role in Nervous System Disorders. PMID:35711736
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications. PMID:35710456
Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability. PMID:35627197
Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding. PMID:35620252
Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients. PMID:35606856
TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure. PMID:35524567
Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. PMID:35519826
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. PMID:35488810
Mutation spectrum of congenital heart disease in a consanguineous Turkish population. PMID:35481623
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology. PMID:35469323
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants. PMID:35468861
Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias. PMID:35457073
Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift. PMID:35456375
Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine. PMID:35450748
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia. PMID:35410376
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research. PMID:35388217
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing. PMID:35388186
X-Chromosome Inactivation and Related Diseases. PMID:35387179
Re-evaluation of missense variant classifications in NF2. PMID:35332608
Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants. PMID:35328089
PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene. PMID:35328080
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification. PMID:35311178
Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study. PMID:35281813
Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators. PMID:35257783
Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases. PMID:35256540
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. PMID:35248119
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies. PMID:35246562
Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot. PMID:35241061
The individual and global impact of copy-number variants on complex human traits. PMID:35240056
TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs. PMID:35232478
Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A. PMID:35228668
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. PMID:35220969
Current and Future Approaches to Classify VUSs in LGMD-Related Genes. PMID:35205425
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. PMID:35202563
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. PMID:35192731
Variant-level matching for diagnosis and discovery: Challenges and opportunities. PMID:35191117
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model. PMID:35186010
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation. PMID:35180879
Hematopoietic Cells from Pluripotent Stem Cells: Hope and Promise for the Treatment of Inherited Blood Disorders. PMID:35159366
Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene. PMID:35146449
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research. PMID:35143074
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. PMID:35138025
A clinician's guide to omics resources in dermatology. PMID:35104371
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder. PMID:35101335
Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0. PMID:35072799
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning. PMID:35063063
Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics. PMID:35055388
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? PMID:35052418
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants. PMID:35032432
Interplay in neural functions of cell adhesion molecule close homolog of L1 (CHL1) and Programmed Cell Death 6 (PDCD6). PMID:35024572
Automated prediction of the clinical impact of structural copy number variations. PMID:35017614
19p13.3 Deletion With Polyotia: A Case Report and Literature Review. PMID:34976455
Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania. PMID:34976143
DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning. PMID:34951628
AHDC1 missense mutations in Xia-Gibbs syndrome. PMID:34950897
Intellectual disability genomics: current state, pitfalls and future challenges. PMID:34930158
Whole genome sequencing-based copy number variations reveal novel pathways and targets in Alzheimer's disease. PMID:34918867
Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant. PMID:34912368
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders. PMID:34849274
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing. PMID:34841066
A trivalent nucleosome interaction by PHIP/BRWD2 is disrupted in neurodevelopmental disorders and cancer. PMID:34819353
Copy Number Variation Identification on 3,800 Alzheimer's Disease Whole Genome Sequencing Data from the Alzheimer's Disease Sequencing Project. PMID:34804120
Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing. PMID:34804071
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. PMID:34795310
Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data. PMID:34789167
A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases. PMID:34751921
Genetic Testing in CYLD Cutaneous Syndrome: An Update. PMID:34744449
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome. PMID:34737199
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity. PMID:34728600
Genome-Wide Assessment Characteristics of Genes Overlapping Copy Number Variation Regions in Duroc Purebred Population. PMID:34721540
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. PMID:34657631
Deep semi-supervised learning ensemble framework for classifying co-mentions of human proteins and phenotypes. PMID:34656098
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. PMID:34653234
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature. PMID:34645992
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. PMID:34645894
Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology. PMID:34640386
AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs. PMID:34615484
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome. PMID:34602957
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO). PMID:34573432
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations. PMID:34573409
A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review. PMID:34573370
The role of USP7 in the Shoc2-ERK1/2 signaling axis and Noonan-like syndrome with loose anagen hair. PMID:34553755
Current updates and future perspectives in the evaluation of azoospermia: A systematic review. PMID:34552771
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects. PMID:34549899
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. PMID:34547244
E-liquids and vanillin flavoring disrupts retinoic acid signaling and causes craniofacial defects in Xenopus embryos. PMID:34543654
The LOVD3 platform: efficient genome-wide sharing of genetic variants. PMID:34521998
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype. PMID:34518334
De novo missense variants in FBXO11 alter its protein expression and subcellular localization. PMID:34505148
Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. PMID:34504065
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. PMID:34450027
Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine. PMID:34449663
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer. PMID:34442375
The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements. PMID:34435752
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome. PMID:34423300
A convergent molecular network underlying autism and congenital heart disease. PMID:34411509
Clan genomics: From OMIM phenotypic traits to genes and biology. PMID:34405553
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency. PMID:34402903
X-linked serotonin 2C receptor is associated with a non-canonical pathway for sudden unexpected death in epilepsy. PMID:34396109
Transgenic modeling of Ndr2 gene amplification reveals disturbance of hippocampus circuitry and function. PMID:34381982
The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders. PMID:34356138
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome. PMID:34356064
Haploinsufficiency of SF3B2 causes craniofacial microsomia. PMID:34344887
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit. PMID:34298581
Folate Deficiency Triggers the Abnormal Segregation of a Region With Large Cluster of CG-Rich Trinucleotide Repeats on Human Chromosome 2. PMID:34276797
Interstitial duplication of 20q11.22q13.11: A case report and review of literature. PMID:34268909
A Novel Computational Framework to Predict Disease-Related Copy Number Variations by Integrating Multiple Data Sources. PMID:34267783
The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain. PMID:34267256
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. PMID:34245260
Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay. PMID:34238319
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors. PMID:34231212
Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use. PMID:34230207
Protein phosphatase 2A - structure, function and role in neurodevelopmental disorders. PMID:34228795
Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion. PMID:34221520
Importance of determining variations in the number of copies in newborns with autosomal aneuploidies. PMID:34214269
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. PMID:34211179
Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review. PMID:34210021
Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases. PMID:34177436
Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature. PMID:34177432
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions. PMID:34168676
Human intermediate progenitor diversity during cortical development. PMID:34155100
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay. PMID:34117072
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders. PMID:34113010
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. PMID:34113007
Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome. PMID:34110109
Regulation of the NMDA receptor by its cytoplasmic domains: (How) is the tail wagging the dog? PMID:34097949
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. PMID:34087052
Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities-First case report. PMID:34084500
Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. PMID:34083811
Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families. PMID:34069769
Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks. PMID:34046427
PhenCards: a data resource linking human phenotype information to biomedical knowledge. PMID:34034817
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. PMID:34022131
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients. PMID:34019647
Genome-wide copy number variations in a large cohort of bantu African children. PMID:34001112
Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region. PMID:33995479
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders. PMID:33982443
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. PMID:33942428
Germline Structural Variations in Cancer Predisposition Genes. PMID:33936164
DPP9: Comprehensive In Silico Analyses of Loss of Function Gene Variants and Associated Gene Expression Signatures in Human Hepatocellular Carcinoma. PMID:33915844
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. PMID:33909992
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. PMID:33909990
Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes. PMID:33897758
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect. PMID:33891002
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. PMID:33863876
CRL4AMBRA1 is a master regulator of D-type cyclins. PMID:33854235
MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes. PMID:33836063
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. PMID:33824499
Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma. PMID:33811277
Absence of RNA-binding protein FXR2P prevents prolonged phase of kainate-induced seizures. PMID:33779029
Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report. PMID:33750025
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. PMID:33743206
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. PMID:33734437
Identification of New miRNA-mRNA Networks in the Development of Non-syndromic Cleft Lip With or Without Cleft Palate. PMID:33732700
Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia. PMID:33718894
Ethical issues in genomics research on neurodevelopmental disorders: a critical interpretive review. PMID:33712057
Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders. PMID:33682876
Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays. PMID:33627090
Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders. PMID:33603196
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy. PMID:33603162
Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia. PMID:33598243
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. PMID:33597122
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. PMID:33596411
Subtype-dependent regulation of Gβγ signalling. PMID:33582184
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. PMID:33575671
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration. PMID:33574475
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank. PMID:33568206
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants. PMID:33526825
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. PMID:33513338
Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation. PMID:33510599
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease. PMID:33510257
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review. PMID:33505690
Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature. PMID:33472639
Improving diagnostics of rare genetic diseases with NGS approaches. PMID:33452619
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. PMID:33452270
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. PMID:33439542
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. PMID:33437032
Large mosaic copy number variations confer autism risk. PMID:33432194
nanotatoR: a tool for enhanced annotation of genomic structural variants. PMID:33407088
Case report: Novel phenotype in central 22q11.2 deletion syndrome. PMID:33363922
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury. PMID:33335013
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. PMID:33308444
Copy number variation (CNV) identification, interpretation, and database from Brazilian patients. PMID:33306777
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation. PMID:33281875
Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder. PMID:33279929
The Human Phenotype Ontology in 2021. PMID:33264411
'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension. PMID:33256119
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. PMID:33232675
ClassifyCNV: a tool for clinical annotation of copy-number variants. PMID:33230148
Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions. PMID:33224013
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. PMID:33223528
The UCSC Genome Browser database: 2021 update. PMID:33221922
Stochastic gene expression and chromosome interactions in protecting the human active X from silencing by XIST. PMID:33211621
DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier. PMID:33206638
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20. PMID:33193593
Finding MEMO-Emerging Evidence for MEMO1's Function in Development and Disease. PMID:33172038
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. PMID:33159883
Genome-wide meta-analysis of brain volume identifies genomic loci and genes shared with intelligence. PMID:33154357
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. PMID:33150406
Evaluating variants classified as pathogenic in ClinVar in the DDD Study. PMID:33149276
Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies. PMID:33147442
Chromosomal abnormality, laboratory techniques, tools and databases in molecular Cytogenetics. PMID:33104991
Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions. PMID:33100228
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. PMID:33098347
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies. PMID:33082561
Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases. PMID:33001999
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. PMID:33001864
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing. PMID:32985468
A study of normal copy number variations in Israeli population. PMID:32980975
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. PMID:32979048
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. PMID:32973342
De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication. PMID:32944080
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder. PMID:32918542
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
Phenotype Heterogeneity in 3q29 Microduplication Syndrome. PMID:32874693
Computational Methods and Software Tools for Functional Analysis of miRNA Data. PMID:32872205
Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450. PMID:32872162
Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions. PMID:32845907
Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels. PMID:32842603
Emerging Insights into the Distinctive Neuronal Methylome. PMID:32839016
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome. PMID:32832699
Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations. PMID:32778951
The phenomenal epigenome in neurodevelopmental disorders. PMID:32766754
Association Study of Genetic Variants in Autophagy Pathway and Risk of Non-syndromic Cleft Lip With or Without Cleft Palate. PMID:32766242
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. PMID:32730804
ARHGAP10, which encodes Rho GTPase-activating protein 10, is a novel gene for schizophrenia risk. PMID:32699248
Assembly of the threespine stickleback Y chromosome reveals convergent signatures of sex chromosome evolution. PMID:32684159
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis. PMID:32659924
PsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids. PMID:32659782
Involvement of Kallikrein-Related Peptidases in Nervous System Disorders. PMID:32655372
Embracing human genetics: a primer for developmental biologists. PMID:32616565
Loqusdb: added value of an observations database of local genomic variation. PMID:32611382
Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report. PMID:32582378
Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development. PMID:32579612
Childhood rare lung disease in the 21st century: "-omics" technology advances accelerating discovery. PMID:32533908
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes. PMID:32528716
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. PMID:32503625
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. PMID:32499722
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. PMID:32483341
Hodgkin-Huxley-Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif. PMID:32468591
Emerging role of NIK/IKK2-binding protein (NIBP)/trafficking protein particle complex 9 (TRAPPC9) in nervous system diseases. PMID:32434006
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). PMID:32381727
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. PMID:32376980
Translating insights from neuropsychiatric genetics and genomics for precision psychiatry. PMID:32349784
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. PMID:32338762
A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58. PMID:32337552
De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. PMID:32321736
Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation. PMID:32319885
BioHackathon 2015: Semantics of data for life sciences and reproducible research. PMID:32308977
A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability. PMID:32299451
ECE2 regulates neurogenesis and neuronal migration during human cortical development. PMID:32207244
Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion. PMID:32194616
A deletion in Eml1 leads to bilateral subcortical heterotopia in the tish rat. PMID:32179177
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions. PMID:32176688
A decision tree to improve identification of pathogenic mutations in clinical practice. PMID:32151256
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase. PMID:32080367
Forged by DXZ4, FIRRE, and ICCE: How Tandem Repeats Shape the Active and Inactive X Chromosome. PMID:32076600
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants. PMID:32050993
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. PMID:32041641
Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations. PMID:32003824
A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review. PMID:31989799
Novel karyotypes of partial monosomy 21 and partial monosomy 1 and underlying etiology. PMID:31966860
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31. PMID:31963867
Harveian Oration 2019: Prediction and prevention in the genomic era. PMID:31941726
A brief history of human disease genetics. PMID:31915397
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report. PMID:31914951
Interstitial duplication of 8q22.1-q23.1- A case report and review of the literature. PMID:31893066
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. PMID:31866047
A deep neural network approach to predicting clinical outcomes of neuroblastoma patients. PMID:31856829
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. PMID:31852984
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. PMID:31834374
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism. PMID:31827253
Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities. PMID:31824569
Novel clinical and genetic insight into CXorf56-associated intellectual disability. PMID:31822863
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
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene. PMID:31817908
Distinct roles of GRIN2A and GRIN2B variants in neurological conditions. PMID:31807283
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. PMID:31805011
Cardioinformatics: the nexus of bioinformatics and precision cardiology. PMID:31802103
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants. PMID:31801603
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. PMID:31794431
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties. PMID:31754268
RNA sequencing of identical twins discordant for autism reveals blood-based signatures implicating immune and transcriptional dysregulation. PMID:31719968
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study. PMID:31719132
High-mobility group nucleosomal binding domain 2 protects against microcephaly by maintaining global chromatin accessibility during corticogenesis. PMID:31699896
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. PMID:31694722
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family. PMID:31694657
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. PMID:31692161
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. PMID:31650526
Severe head dysgenesis resulting from imbalance between anterior and posterior ontogenetic programs. PMID:31649239
Model system identification of novel congenital heart disease gene candidates: focus on RPL13. PMID:31625562
Contribution of retrotransposition to developmental disorders. PMID:31604926
GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature. PMID:31602190
Soft windowing application to improve analysis of high-throughput phenotyping data. PMID:31591642
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. PMID:31578471
Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice. PMID:31557133
Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. PMID:31524990
A Survey of Gene Prioritization Tools for Mendelian and Complex Human Diseases. PMID:31494632
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. PMID:31475990
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. PMID:31451536
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. PMID:31443933
Does APC/CCDH1 control the human brain size?: An Editorial Highlight for 'A novel human Cdh1 mutation impairs anaphase-promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation, and epilepsy' on page 103. PMID:31441503
Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay. PMID:31429857
KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. PMID:31428438
Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital. PMID:31422728
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome. PMID:31413120
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome. PMID:31388001
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. PMID:31353855
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. PMID:31341187
Cohesin complex-associated holoprosencephaly. PMID:31334757
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. PMID:31327508
The rare 13q33-q34 microdeletions: eight new patients and review of the literature. PMID:31321490
A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy. PMID:31318984
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. PMID:31303265
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. PMID:31300657
Genomic imbalances defining novel intellectual disability associated loci. PMID:31277718
Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles. PMID:31260137
Extracting Biomedical Terms from Postpartum Depression Online Health Communities. PMID:31259014
HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology. PMID:31255713
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. PMID:31239556
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies. PMID:31210441
De novo variants in CNOT3 cause a variable neurodevelopmental disorder. PMID:31201375
VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations. PMID:31192369
Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay. PMID:31183085
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. PMID:31155615
A genomic atlas of systemic interindividual epigenetic variation in humans. PMID:31155008
Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation. PMID:31149029
Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission. PMID:31085270
Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies. PMID:31061677
Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function. PMID:31025836
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway. PMID:31024343
A patient with Phelan-McDermid syndrome and dilation of the great vessels. PMID:30997046
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene. PMID:30936464
Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family. PMID:30917284
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome. PMID:30909440
The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review. PMID:30853971
Genomic Copy Number Variations in the Autism Clinic-Work in Progress. PMID:30837845
Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease. PMID:30832413
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene. PMID:30820038
Case report of a child bearing a novel deleterious splicing variant in PIGT. PMID:30813157
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. PMID:30809043
Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis. PMID:30768640
ClinTAD: a tool for copy number variant interpretation in the context of topologically associated domains. PMID:30765865
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. PMID:30744660
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. PMID:30732576
Data mining for mutation-specific targets in acute myeloid leukemia. PMID:30728456
GenESysV: a fast, intuitive and scalable genome exploration open source tool for variants generated from high-throughput sequencing projects. PMID:30704396
Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance. PMID:30686509
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. PMID:30679813
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. PMID:30679432
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection. PMID:30664766
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. PMID:30664714
Opportunities for Patient Matching Algorithms to Improve Patient Care in Oncology. PMID:30657369
MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism. PMID:30647996
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. PMID:30639323
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. PMID:30639322
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. PMID:30622101
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. PMID:30609410
Constructing a database for the relations between CNV and human genetic diseases via systematic text mining. PMID:30598077
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. PMID:30578417
Ensembl variation resources. PMID:30576484
Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms. PMID:30565237
RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis. PMID:30564269
Diagnosing rare diseases after the exome. PMID:30559314
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. PMID:30552426
The DGCR5 long noncoding RNA may regulate expression of several schizophrenia-related genes. PMID:30545965
SeqVItA: Sequence Variant Identification and Annotation Platform for Next Generation Sequencing Data. PMID:30487811
Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders. PMID:30405350
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. PMID:30388402
Detection of Shared Balancing Selection in the Absence of Trans-Species Polymorphism. PMID:30380122
NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report. PMID:30376821
Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture. PMID:30374058
Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications. PMID:30349704
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. PMID:30349098
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants. PMID:30311381
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. PMID:30293986
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. PMID:30291340
Copy number variations in a population with prune belly syndrome. PMID:30285310
QRICH1 mutations cause a chondrodysplasia with developmental delay. PMID:30281152
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. PMID:30258228
matchbox: An open-source tool for patient matching via the Matchmaker Exchange. PMID:30240502
Persistent Lin28 Expression Impairs Neurite Outgrowth and Cognitive Function in the Developing Mouse Neocortex. PMID:30203263
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing. PMID:30190494
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly. PMID:30182442
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. PMID:30158690
HPO2GO: prediction of human phenotype ontology term associations for proteins using cross ontology annotation co-occurrences. PMID:30083448
IRF2BPL Is Associated with Neurological Phenotypes. PMID:30057031
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. PMID:30057029
Location: A surrogate for personalized treatment of sodium channelopathies. PMID:30048009
Computational Prediction of Position Effects of Human Chromosome Rearrangements. PMID:30038699
Loss of maternal EED results in postnatal overgrowth. PMID:30005706
Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity. PMID:29976977
Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy. PMID:29962935
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. PMID:29955957
Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases. PMID:29946186
Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature. PMID:29932076
Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2. PMID:29928183
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. PMID:29922587
SET de novo frameshift variants associated with developmental delay and intellectual disabilities. PMID:29907757
A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees. PMID:29890955
Genetics in mainstream medicine: Finally within grasp to influence healthcare globally. PMID:29807392
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. PMID:29805041
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability. PMID:29784605
Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy. PMID:29765130
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. PMID:29754767
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. PMID:29726930
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases. PMID:29704307
The phenotypic spectrum of Xia-Gibbs syndrome. PMID:29696776
Alphabet Soup: Recurrent De Novo Mutations in Novel Genes Causing Developmental and Epileptic Encephalopathies. PMID:29671845
iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization. PMID:29621297
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. PMID:29618029
A FAIR guide for data providers to maximise sharing of human genomic data. PMID:29543799
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies. PMID:29523172
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. PMID:29511323
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. PMID:29490693
Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis. PMID:29490426
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. PMID:29474920
Cell-Intrinsic Control of Interneuron Migration Drives Cortical Morphogenesis. PMID:29474907
Duplications at 19q13.33 in patients with neurodevelopmental disorders. PMID:29473046
Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy. PMID:29456482
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. PMID:29441128
Comparative genomic analysis of intracranial germ cell tumors - the preliminary study focused on Sonic Hedgehog signaling pathway. PMID:29416433
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. PMID:29358611
Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene. PMID:29344089
Analysis of copy number loss of the ErbB4 receptor tyrosine kinase in glioblastoma. PMID:29342193
Targeted knockout of a chemokine-like gene increases anxiety and fear responses. PMID:29339520
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. PMID:29330474
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. PMID:29321672
Transposition of the great arteries - a phenotype associated with 16p11.2 duplications? PMID:29317992
Phenotypic Analysis of Clinical Narratives Using Human Phenotype Ontology. PMID:29295162
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. PMID:29276004
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. PMID:29271092
CDKL5 variants: Improving our understanding of a rare neurologic disorder. PMID:29264392
Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders. PMID:29262854
The contribution of 7q33 copy number variations for intellectual disability. PMID:29260337
Neural progenitor fate decision defects, cortical hypoplasia and behavioral impairment in Celsr1-deficient mice. PMID:29257130
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity. PMID:29244146
Noncoding copy-number variations are associated with congenital limb malformation. PMID:29236091
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment. PMID:29198719
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. PMID:29191242
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. PMID:29184170
Exome Pool-Seq in neurodevelopmental disorders. PMID:29158550
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly. PMID:29152164
Copy Number Variant in the Region of Adenosine Kinase (ADK) and Its Possible Contribution to Schizophrenia Susceptibility. PMID:29126171
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. PMID:29100095
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. PMID:29100089
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. PMID:29100083
Xenbase: a genomic, epigenomic and transcriptomic model organism database. PMID:29059324
iSyTE 2.0: a database for expression-based gene discovery in the eye. PMID:29036527
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. PMID:29021403
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. PMID:28990276
Clinical interpretation of copy number variants in the human genome. PMID:28963714
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. PMID:28942966
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. PMID:28920961
Autism-like behavior caused by deletion of vaccinia-related kinase 3 is improved by TrkB stimulation. PMID:28899869
Molecular signatures that can be transferred across different omics platforms. PMID:28881975
Genetic Testing in a Cohort of Complex Esophageal Atresia. PMID:28878607
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. PMID:28777935
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PMID:28771489
Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders. PMID:28763059
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. PMID:28756411
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. PMID:28735859
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. PMID:28724449
The dental phenotype of hairless dogs with FOXI3 haploinsufficiency. PMID:28710361
A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome. PMID:28690488
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. PMID:28686853
The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. PMID:28650482
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. PMID:28649782
Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes. PMID:28649445
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. PMID:28630650
Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness. PMID:28626596
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. PMID:28575647
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. PMID:28574513
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. PMID:28558098
Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2. PMID:28552356
GLADIATOR: a global approach for elucidating disease modules. PMID:28549478
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. PMID:28539665
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. PMID:28513610
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. PMID:28502612
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly. PMID:28465847
Small copy-number variations involving genes of the FGF pathway in differences in sex development. PMID:28446957
A novel link between keratoderma and cardiomyopathy: contiguous gene deletion involving the desmoglein gene cluster. PMID:28407214
Chromosome 13q deletion syndrome involving 13q31‑qter: A case report. PMID:28393221
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. PMID:28377535
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. PMID:28348241
Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. PMID:28334874
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. PMID:28327575
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. PMID:28327570
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation. PMID:28287439
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. PMID:28283832
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. PMID:28247551
Opportunities and challenges of whole-genome and -exome sequencing. PMID:28193154
Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. PMID:28174644
Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications. PMID:28158220
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. PMID:28157540
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. PMID:28132691
A Model Program for Translational Medicine in Epilepsy Genetics. PMID:28056630
Networks of Cultured iPSC-Derived Neurons Reveal the Human Synaptic Activity-Regulated Adaptive Gene Program. PMID:28052243
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. PMID:28017372
Sacral agenesis: a pilot whole exome sequencing and copy number study. PMID:28007035
Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis. PMID:27996019
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. PMID:27964749
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. PMID:27939640
Functional characterization of rare FOXP2 variants in neurodevelopmental disorder. PMID:27933109
Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report. PMID:27924152
A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype. PMID:27840696
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation. PMID:27777633
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. PMID:27745839
Registered access: a 'Triple-A' approach. PMID:27677416
Clinical and genetic aspects of KBG syndrome. PMID:27667800
Major influence of repetitive elements on disease-associated copy number variants (CNVs). PMID:27663310
Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis. PMID:27651783
A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome. PMID:27617114
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. PMID:27569545
The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges. PMID:27504451
A New Case of an Extremely Rare 3p21.31 Interstitial Deletion. PMID:27385966
The expanding phenotypic spectra of kidney diseases: insights from genetic studies. PMID:27374918
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. PMID:27363808
Integrated small copy number variations and epigenome maps of disorders of sex development. PMID:27340555
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. PMID:27272187
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. PMID:27148569
Capturing phenotypes for precision medicine. PMID:27148566
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. PMID:27120335
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. PMID:27106595
Discovering and understanding oncogenic gene fusions through data intensive computational approaches. PMID:27105842
Inherited platelet disorders: toward DNA-based diagnosis. PMID:27095789
An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays. PMID:27029637
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. PMID:27003583
Glomerulopathy in patients with distal duplication of chromosome 6p. PMID:27000031
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability. PMID:26997977
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. PMID:26974950
Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects. PMID:26893613
Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray. PMID:26884814
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. PMID:26845106
Management of a Giant Omphalocele with Non-Cross-Linked Intact Porcine-Derived Acellular Dermal Matrix (Strattice) Combined with Vacuum Therapy. PMID:26788448
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. PMID:26755636
Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population. PMID:26742958
POGZ truncating alleles cause syndromic intellectual disability. PMID:26739615
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. PMID:26733284
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements. PMID:26732513
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. PMID:26656649
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape. PMID:26631348
The Molecular Karyotype of 25 Clinical-Grade Human Embryonic Stem Cell Lines. PMID:26607962
Paternal Hemizygosity in 11p15 in Mole-like Conceptuses: Two Case Reports. PMID:26554776
Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA. PMID:26554006
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
MEF2 transcription factors: developmental regulators and emerging cancer genes. PMID:26506234
Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1. PMID:26495166
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors. PMID:26482194
Building the foundation for genomics in precision medicine. PMID:26469044
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. PMID:26419432
Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor. PMID:26317783
Diagnostic interpretation of array data using public databases and internet sources. PMID:26285306
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. PMID:26220823
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER. PMID:26220709
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L. PMID:26076356
Global implementation of genomic medicine: We are not alone. PMID:26041702
Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans. PMID:25998497
Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment. PMID:25902260
The clustering of functionally related genes contributes to CNV-mediated disease. PMID:25887030
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. PMID:25817014
Redefining the MED13L syndrome. PMID:25758992
A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis. PMID:25729737
Automatic concept recognition using the human phenotype ontology reference and test suite corpora. PMID:25725061
HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology. PMID:25664462
Duplications in ADHD patients harbour neurobehavioural genes that are co-expressed with genes associated with hyperactivity in the mouse. PMID:25656289
Copy number variations in a population-based study of Charcot-Marie-Tooth disease. PMID:25648254
A copy number variation map of the human genome. PMID:25645873
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability. PMID:25606055
All humans, great or small, short or tall. PMID:25565924
Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer. PMID:25548800
Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia. PMID:25439843
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. PMID:25432440
Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype. PMID:25424712
Monoallelic expression of the human FOXP2 speech gene. PMID:25422445
PhenUMA: a tool for integrating the biomedical relationships among genes and diseases. PMID:25420641
Resequencing and association analysis of PTPRA, a possible susceptibility gene for schizophrenia and autism spectrum disorders. PMID:25393624
A fourth case of Feingold syndrome type 2: psychiatric presentation and management. PMID:25391829
Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10. PMID:25352184
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. PMID:25326669
Deletions of chromosomal regulatory boundaries are associated with congenital disease. PMID:25315429
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. PMID:25232846
Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis. PMID:25152847
Copy number variation in Thai population. PMID:25118596
The clinical significance of small copy number variants in neurodevelopmental disorders. PMID:25106414
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. PMID:25105228
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. PMID:25099252
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. PMID:25077648
Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries. PMID:25077177
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. PMID:25062598
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus. PMID:25059704
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. PMID:25047197
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. PMID:25029978
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile. PMID:24986124
Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion. PMID:24980605
Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7. PMID:24973960
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion. PMID:24963351
Opposite effects on facial morphology due to gene dosage sensitivity. PMID:24889830
Clinical utility gene card for: 15q13.3 microdeletion syndrome. PMID:24824131
Compilation of copy number variants identified in phenotypically normal and parous Japanese women. PMID:24785687
Further confirmation of the MED13L haploinsufficiency syndrome. PMID:24781760
Guidelines for investigating causality of sequence variants in human disease. PMID:24759409
Biological relevance of CNV calling methods using familial relatedness including monozygotic twins. PMID:24750645
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. PMID:24746958
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements. PMID:24713661
Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region. PMID:24707176
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience. PMID:24689080
Adult expression of a 3q13.31 microdeletion. PMID:24650298
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. PMID:24531329
Structural maintenance of chromosome complexes and bone development: the beginning of a wonderful relationship? PMID:24422108
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. PMID:24360809
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. PMID:24356988
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. PMID:24217912
The Database of Genomic Variants: a curated collection of structural variation in the human genome. PMID:24174537
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. PMID:24150940
On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma. PMID:24131700
Clinical utility gene card for: 16p13.11 microdeletion syndrome. PMID:24105370
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. PMID:24079343
BBGRE: brain and body genetic resource exchange. PMID:24077841
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. PMID:24053514
Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation. PMID:23997956
Mouse model implicates GNB3 duplication in a childhood obesity syndrome. PMID:23980137
miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability. PMID:23937676
Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event. PMID:23915422
Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay. PMID:23862039
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. PMID:23768516
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. PMID:23750167
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. PMID:23637818
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PMID:23555275
Mutations in DEPDC5 cause familial focal epilepsy with variable foci. PMID:23542697
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease. PMID:23438595
A high-resolution enhancer atlas of the developing telencephalon. PMID:23375746
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. PMID:23332918
Phenotypic impact of genomic structural variation: insights from and for human disease. PMID:23329113
Enhancer chip: detecting human copy number variations in regulatory elements. PMID:23284961
On the spot: very local chromosomal rearrangements. PMID:23189093
Genenames.org: the HGNC resources in 2013. PMID:23161694
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. PMID:23104991
Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report. PMID:23074672
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. PMID:22962312
MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization. PMID:22948472
The UCSC genome browser and associated tools. PMID:22908213
Animal models of psychiatric disorders that reflect human copy number variation. PMID:22900207
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. PMID:22863195
A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome. PMID:22822384
De novo mutations in human genetic disease. PMID:22805709
From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. PMID:22772565
Computational tools for prioritizing candidate genes: boosting disease gene discovery. PMID:22751426
Improving disease gene prioritization by comparing the semantic similarity of phenotypes in mice with those of human diseases. PMID:22719993
arrayMap: a reference resource for genomic copy number imbalances in human malignancies. PMID:22629346
Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. PMID:22529060
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. PMID:22480366
Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial. PMID:22467170
Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience. PMID:22331816
Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report. PMID:22269667
Discovery of variants unmasked by hemizygous deletions. PMID:22258528
Online resources for genomic structural variation. PMID:22228017
Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome. PMID:22215957
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. PMID:22180640
Mutations in EZH2 cause Weaver syndrome. PMID:22177091
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PMID:22102821
Towards an evidence-based process for the clinical interpretation of copy number variation. PMID:22097934
The UCSC Genome Browser database: extensions and updates 2011. PMID:22086951
myKaryoView: a light-weight client for visualization of genomic data. PMID:22046276
The UCSC Genome Browser. PMID:21975940
Developing and implementing an institute-wide data sharing policy. PMID:21955348
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. PMID:21948691
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. PMID:21892160
A copy number variation morbidity map of developmental delay. PMID:21841781
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. PMID:21802062
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. PMID:21801163
Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior. PMID:21629438
The causality of de novo copy number variants is overestimated. PMID:21587321
Copy number variation of microRNA genes in the human genome. PMID:21486463
CNV-WebStore: online CNV analysis, storage and interpretation. PMID:21208430
dbCRID: a database of chromosomal rearrangements in human diseases. PMID:21051346
Characterising and predicting haploinsufficiency in the human genome. PMID:20976243
Interoperability between phenotype and anatomy ontologies. PMID:20971987
The UCSC Genome Browser database: update 2011. PMID:20959295
Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome. PMID:20824207
Genomic analysis of partial 21q monosomies with variable phenotypes. PMID:20823914
Phenotypic variability and genetic susceptibility to genomic disorders. PMID:20807775
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. PMID:20736978
5q11.2 deletion in a patient with tracheal agenesis. PMID:20551993
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. PMID:20466091
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. PMID:20154674
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction. PMID:19917957
Copy number variation in human health, disease, and evolution. PMID:19715442
Linking genes to diseases: it's all in the data. PMID:19678910
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PMID:19543368
WhichGenes: a web-based tool for gathering, building, storing and exporting gene sets with application in gene set enrichment analysis. PMID:19406925
Contribution of SHANK3 mutations to autism spectrum disorder. PMID:17999366
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation PubMed citations: 102.

102 articles citing: DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care. PMID:35902925
Recommendations for clinical interpretation of variants found in non-coding regions of the genome. PMID:35850704
Network-Based Approaches for Disease-Gene Association Prediction Using Protein-Protein Interaction Networks. PMID:35806415
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications. PMID:35710456
Functional Studies of Genetic Variants Associated with Human Diseases in Notch Signaling-Related Genes Using Drosophila. PMID:35674905
The impact of educational attainment, intelligence and intellectual disability on schizophrenia: a Swedish population-based register and genetic study. PMID:35379910
Rare disorders have many faces: in silico characterization of rare disorder spectrum. PMID:35193637
Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm. PMID:35143083
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research. PMID:35143074
Time to make rare disease diagnosis accessible to all. PMID:35132266
Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing. PMID:34775996
Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records. PMID:34440331
Biomolecule and Bioentity Interaction Databases in Systems Biology: A Comprehensive Review. PMID:34439912
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases. PMID:34428295
X-CNV: genome-wide prediction of the pathogenicity of copy number variations. PMID:34407882
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing. PMID:33606250
The contribution of X-linked coding variation to severe developmental disorders. PMID:33504798
The Human Phenotype Ontology in 2021. PMID:33264411
Genenames.org: the HGNC and VGNC resources in 2021. PMID:33152070
Diagnosis of Rare Diseases: a scoping review of clinical decision support systems. PMID:32972444
Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies. PMID:32958875
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. PMID:32596782
Mapping and characterization of structural variation in 17,795 human genomes. PMID:32460305
Applications of molecular networks in biomedicine. PMID:32395629
Exploration of databases and methods supporting drug repurposing: a comprehensive survey. PMID:32055842
The genetics of intellectual disability: advancing technology and gene editing. PMID:31984132
Genomic variant sharing: a position statement. PMID:31886409
HPOAnnotator: improving large-scale prediction of HPO annotations by low-rank approximation with HPO semantic similarities and multiple PPI networks. PMID:31865916
SNP-CRISPR: A Web Tool for SNP-Specific Genome Editing. PMID:31822517
Update on KMT2B-Related Dystonia. PMID:31768667
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes. PMID:31749829
Genomic integrity of human induced pluripotent stem cells: Reprogramming, differentiation and applications. PMID:31692979
Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease. PMID:31613678
VarSite: Disease variants and protein structure. PMID:31606900
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data. PMID:31278258
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. PMID:31231135
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. PMID:30665703
Quantifying the contribution of recessive coding variation to developmental disorders. PMID:30409806
Genenames.org: the HGNC and VGNC resources in 2019. PMID:30304474
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. PMID:30279471
The Omics Revolution Continues: The Maturation of High-Throughput Biological Data Sources. PMID:30157526
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility. PMID:30122540
[From symptom to syndrome using modern software support]. PMID:29995249
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. PMID:29988626
Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases. PMID:29946186
A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. PMID:29850563
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. PMID:29656860
Society and personal genome data. PMID:29522190
Paediatric genomics: diagnosing rare disease in children. PMID:29398702
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. PMID:29323667
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. PMID:29276005
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability. PMID:29258477
Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods. PMID:29025394
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. PMID:28944233
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. PMID:28866611
Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia. PMID:28719003
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. PMID:28670437
Gene ORGANizer: linking genes to the organs they affect. PMID:28444223
Returning genome sequences to research participants: Policy and practice. PMID:28317033
Prevalence and architecture of de novo mutations in developmental disorders. PMID:28135719
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. PMID:28053047
The Human Phenotype Ontology in 2017. PMID:27899602
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. PMID:27788187
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. PMID:27745839
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly. PMID:27418539
The Ensembl Variant Effect Predictor. PMID:27268795
Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb. PMID:27158917
Novel bioinformatic developments for exome sequencing. PMID:27075447
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors. PMID:26997941
Wikidata as a semantic framework for the Gene Wiki initiative. PMID:26989148
Systematic identification of phenotypically enriched loci using a patient network of genomic disorders. PMID:26980139
[Research advances in candidate genes for autism spectrum disorder]. PMID:26975830
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. PMID:26845106
PHENOstruct: Prediction of human phenotype ontology terms using heterogeneous data sources. PMID:26834980
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. PMID:26740553
Principle of proportionality in genomic data sharing. PMID:26593419
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts. PMID:26561393
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
DIDA: A curated and annotated digenic diseases database. PMID:26481352
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing. PMID:26289954
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. PMID:26283276
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases. PMID:26274329
Exome Sequencing in Fetuses with Structural Malformations. PMID:26237476
Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use? PMID:26237396
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
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. PMID:26168268
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. PMID:26119816
Disease insights through cross-species phenotype comparisons. PMID:26092691
Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders. PMID:25852443
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders. PMID:25781962
EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization. PMID:25550428
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. PMID:25529582
19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype. PMID:25516771
Genomic data sharing for translational research and diagnostics. PMID:25473437
Genenames.org: the HGNC resources in 2015. PMID:25361968
Ensembl 2015. PMID:25352552
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. PMID:25342064
What's that gene (or protein)? Online resources for exploring functions of genes, transcripts, and proteins. PMID:24723265
Finding people who will tell you their thoughts on genomics-recruitment strategies for social sciences research. PMID:24535681
The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection. PMID:24316579
http://dx.doi.org/10.1093/nar/gkt937

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More detailed information about this field from each metasource.

chromosomal aberration
metasource: Fairsharing.org
version: FAIRsharing.org: DECIPHER; DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources; DOI: https://doi.org/10.25504/FAIRsharing.l8Sf5x; Last edited: Jan. 8, 2019, 1:26 p.m.; Last accessed: Jan 03 2022 7:07 p.m.

chromosome
metasource: Fairsharing.org
version: FAIRsharing.org: DECIPHER; DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources; DOI: https://doi.org/10.25504/FAIRsharing.l8Sf5x; Last edited: Jan. 8, 2019, 1:26 p.m.; Last accessed: Jan 03 2022 7:07 p.m.

genome visualization
metasource: Fairsharing.org
version: FAIRsharing.org: DECIPHER; DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources; DOI: https://doi.org/10.25504/FAIRsharing.l8Sf5x; Last edited: Jan. 8, 2019, 1:26 p.m.; Last accessed: Jan 03 2022 7:07 p.m.

sequence variant
metasource: Fairsharing.org
version: FAIRsharing.org: DECIPHER; DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources; DOI: https://doi.org/10.25504/FAIRsharing.l8Sf5x; Last edited: Jan. 8, 2019, 1:26 p.m.; Last accessed: Jan 03 2022 7:07 p.m.

human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

general polymorphism databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

chromosomal aberration chromosome genome visualization sequence variant human genes and diseases polymorphism

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Ensembl

Database of Genomic Variants

MS-Decipher

Database of Genomic Variants archive (DGVa)

Database of genomic structural VARiation

Database of Genotypes and Phenotypes

dbCRID

Catalogue of Somatic Mutations in Cancer

GWAS Diagram Browser

Ensembl Bacteria

VarySysDB

Homeostasis imbalance process ontology

Ensembl Genomes

dbPSHP

HCAD - Human Chromosome Aberration Database

rVarbase

HGVS Databases

SNPlogic

Ensembl C.elegans Genome Browser

TopoSNP