Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
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Summary
It is shown that de novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD.
- Type
- article
- Published
- 2012-04-04
- Cited by
- 2,205
- References
- 54
- Access
- Open access
- OpenAlex
- https://openalex.org/W1964444099
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:358826
Keywords
Exome sequencing, Genetics, Biology, Locus (genetics), Exome
References
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- Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective
- Connecting signaling pathways underlying communication to ASD vulnerability.
- 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
- A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
- The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
- Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date
- Genome‐wide Association Study of Autism Spectrum Disorder in the East Asian Populations
- CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment
- The Chromatin Regulator CHD8 Is a Context-Dependent Mediator of Cell Survival in Murine Hematopoietic Malignancies
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- Dysregulation of Neurogenic Calcium Signaling and Autism
- Genetic variants in Alzheimer disease – molecular and brain network approaches
- De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity
- The Emerging Clinical Neuroscience of Autism Spectrum Disorder: A Review
- Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach
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