Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
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Summary
The large number of de-novo variants in known intellectual disability genes is only partially attributable to known non-specific phenotypes, suggesting a strong bias in present clinical syndrome descriptions.
- Type
- article
- Published
- 2012-11-10
- Cited by
- 1,057
- References
- 41
- Access
- Open access
- OpenAlex
- https://openalex.org/W2138033133
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:22096802
Keywords
Intellectual disability, Exome sequencing, Missense mutation, Genetics, Loss function
References
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- A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline
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- A Saccharomyces cerevisiae Model Reveals In Vivo Functional Impairment of the Ogden Syndrome N-Terminal Acetyltransferase NAA10 Ser37Pro Mutant*
- De novo Mutations in Schizophrenia Implicate Chromatin Remodeling and Support a Genetic Overlap with Autism and Intellectual Disability
- Etiology of Autism Spectrum Disorder: A Genomics Perspective
- The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
- Epilepsy genetics: the ongoing revolution.
- Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
- Exome Sequencing and the Management of Neurometabolic Disorders
- Exome Pool-Seq in neurodevelopmental disorders
- Synaptic Targeting and Function of SAPAPs Mediated by Phosphorylation-Dependent Binding to PSD-95 MAGUKs.
- De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
- Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.
- Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability
- Präkonzeptionelle und vorgeburtliche klinische Genomsequenzierung
- Molecular, cellular, and physiological significance of N-terminal acetylation.
- Avances en la identificación etiológica del retraso mental
- Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma.
- Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.
- Bases moléculaires et physiopathologiques de syndromes avec anomalies du développement et déficience intellectuelle
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