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Article

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

Nature communications - 24 Nov 2014

O'Roak B J, Stessman H A, Boyle E A, Witherspoon K T, Martin B, Lee C, Vives L, Baker C, Hiatt J B, Nickerson D A, Bernier R, Shendure J, Eichler E E

Abstract excerpt

Autism spectrum disorder (ASD) has a strong but complex genetic component. Here we report on the resequencing of 64 candidate neurodevelopmental disorder risk genes in 5,979 individuals: 3,486 probands and 2,493 unaffected siblings. We find a strong burden of de novo point mutations for these genes and specifically implicate nine genes. These include CHD2 and SYNGAP1, genes previously reported in related...

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Identifiers

PMID: 25418537
DOI: 10.1038/ncomms6595
PMCID: PMC4249945

Genes

CHD2
PAX5
SYNGAP1
TRIP12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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