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