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Article

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

American journal of human genetics - 7 Sept 2017

Krupp Deidre R, Barnard Rebecca A, Duffourd Yannis, Evans Sara A, Mulqueen Ryan M, Bernier Raphael, Rivière Jean-Baptiste, Fombonne Eric, O'Roak Brian J

Abstract excerpt

Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. By leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection, we systematically evaluated the potential role of PMMs in autism risk. Initial re-evaluation of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28867142
DOI: 10.1016/j.ajhg.2017.07.016
PMCID: PMC5590950

Genes

CHD2
CTNNB1
SSRP1
SYNGAP1
UNC79

Provenance

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