Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

doi:10.1038/ejhg.2013.88

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Article

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

European journal of human genetics : EJHG - 1 Jan 2014

Nava Caroline, Keren Boris, Mignot Cyril, Rastetter Agnès, Chantot-Bastaraud Sandra, Faudet Anne, Fonteneau Eric, Amiet Claire, Laurent Claudine, Jacquette Aurélia, Whalen Sandra, Afenjar Alexandra, Périsse Didier, Doummar Diane, Dorison Nathalie, Leboyer Marion, Siffroi Jean-Pierre, Cohen David, Brice Alexis, Héron Delphine, Depienne Christel

Abstract excerpt

Copy number variants (CNVs) have repeatedly been found to cause or predispose to autism spectrum disorders (ASDs). For diagnostic purposes, we screened 194 individuals with ASDs for CNVs using Illumina SNP arrays. In several probands, we also analyzed candidate genes located in inherited deletions to unmask autosomal recessive variants. Three CNVs, a de novo triplication of chromosome 15q11-q12 of paternal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 23632794
DOI: 10.1038/ejhg.2013.88
PMCID: PMC3865413

Genes

DOCK10
PTGER3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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