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Article

Large mosaic copy number variations confer autism risk.

Nature neuroscience - 1 Feb 2021

Sherman Maxwell A, Rodin Rachel E, Genovese Giulio, Dias Caroline, Barton Alison R, Mukamel Ronen E, Berger Bonnie, Park Peter J, Walsh Christopher A, Loh Po-Ru

Abstract excerpt

Although germline de novo copy number variants (CNVs) are known causes of autism spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number variants (mCNVs) has not been explored. In this study, we assessed the contribution of mCNVs to ASD by ascertaining mCNVs in genotype array intensity data from 12,077 probands with ASD and 5,500 unaffected siblings. We detected 46 mCNVs in probands...

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Source

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Identifiers

PMID: 33432194
DOI: 10.1038/s41593-020-00766-5
PMCID: PMC7854495

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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