Exome Concept

subject area of

• A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings  Journal Articles
• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Journal Articles
• Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories  Journal Articles
• Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders  Journal Articles
• De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay  Journal Articles
• De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features  Journal Articles
• Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study  Journal Articles
• Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA  Journal Articles
• Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia  Journal Articles
• Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome  Journal Articles
• Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction  Journal Articles
• Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect  Journal Articles
• Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests  Journal Articles
• Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling  Journal Articles
• Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin  Journal Articles
• Genomic hallmarks of localized, non-indolent prostate cancer  Journal Articles
• Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome  Journal Articles
• Identification of Cadherin 2 ( CDH2 ) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy  Journal Articles
• Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities  Journal Articles
• Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder  Journal Articles
• Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis  Journal Articles
• Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation  Journal Articles
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism  Journal Articles
• Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas  Journal Articles
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Journal Articles
• Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency  Journal Articles
• Peroxisomal D-bifunctional protein deficiency  Journal Articles
• Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease  Journal Articles
• Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders  Journal Articles
• Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease  Journal Articles
• Synaptic, transcriptional and chromatin genes disrupted in autism  Journal Articles
• Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care  Journal Articles
• Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study  Journal Articles
• Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum  Journal Articles
• Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families  Journal Articles