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Article

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

American journal of human genetics - 1 Sept 2016

Leppa Virpi M, Kravitz Stephanie N, Martin Christa Lese, Andrieux Joris, Le Caignec Cedric, Martin-Coignard Dominique, DyBuncio Christina, Sanders Stephan J, Lowe Jennifer K, Cantor Rita M, Geschwind Daniel H

Abstract excerpt

Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the...

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PMID: 27569545
DOI: 10.1016/j.ajhg.2016.06.036
PMCID: PMC5011063

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

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