Exome Concept

subject area of

• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Academic Article
• Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories  Academic Article
• Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders  Academic Article
• De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay  Academic Article
• De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features  Academic Article
• Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing  Academic Article
• Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA  Academic Article
• Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia  Academic Article
• Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome  Academic Article
• Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction  Academic Article
• Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect  Academic Article
• Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests  Academic Article
• Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling  Academic Article
• Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin  Academic Article
• Genotype and phenotype in 12 additional individuals with SATB2 -associated syndrome  Academic Article
• Identification of Cadherin 2 ( CDH2 ) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy  Academic Article
• 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  Academic Article
• Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder  Academic Article
• Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis  Academic Article
• Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation  Academic Article
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism  Academic Article
• Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas  Academic Article
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Academic Article
• Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency  Academic Article
• Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing  Academic Article
• Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease  Academic Article
• Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders  Academic Article
• Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease  Academic Article
• Synaptic, transcriptional and chromatin genes disrupted in autism  Academic Article
• The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families  Academic Article
• Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care  Academic Article
• Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study  Academic Article
• Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum  Academic Article
• Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families  Academic Article