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Article

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

Neuron - 2 Dec 2015

D'Gama Alissa M, Pochareddy Sirisha, Li Mingfeng, Jamuar Saumya S, Reiff Rachel E, Lam Anh-Thu N, Sestan Nenad, Walsh Christopher A

Abstract excerpt

Single nucleotide variants (SNVs), particularly loss-of-function mutations, are significant contributors to autism spectrum disorder (ASD) risk. Here we report the first systematic deep sequencing study of 55 postmortem ASD brains for SNVs in 78 known ASD candidate genes. Remarkably, even without parental samples, we find more ASD brains with mutations that are protein-altering (26/55 cases versus 12/50 controls,...

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Identifiers

PMID: 26637798
DOI: 10.1016/j.neuron.2015.11.009
PMCID: PMC4672379

Genes

SETD2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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