Article
Genotype to phenotype relationships in autism spectrum disorders.
Nature neuroscience - 1 Feb 2015
Chang Jonathan, Gilman Sarah R, Chiang Andrew H, Sanders Stephan J, Vitkup Dennis
Abstract excerpt
Autism spectrum disorders (ASDs) are characterized by phenotypic and genetic heterogeneity. Our analysis of functional networks perturbed in ASD suggests that both truncating and nontruncating de novo mutations contribute to autism, with a bias against truncating mutations in early embryonic development. We find that functional mutations are preferentially observed in genes likely to be haploinsufficient....
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