Strong association of de novo copy number mutations with autism.

doi:10.1126/science.1138659

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Article

Strong association of de novo copy number mutations with autism.

Science (New York, N.Y.) - 20 Apr 2007

Sebat Jonathan, Lakshmi B, Malhotra Dheeraj, Troge Jennifer, Lese-Martin Christa, Walsh Tom, Yamrom Boris, Yoon Seungtai, Krasnitz Alex, Kendall Jude, Leotta Anthony, Pai Deepa, Zhang Ray, Lee Yoon-Ha, Hicks James, Spence Sarah J, Lee Annette T, Puura Kaija, Lehtimäki Terho, Ledbetter David, Gregersen Peter K, Bregman Joel, Sutcliffe James S, Jobanputra Vaidehi, Chung Wendy, Warburton Dorothy, King Mary-Claire, Skuse David, Geschwind Daniel H, Gilliam T Conrad, Ye Kenny, Wigler Michael

Abstract excerpt

We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in...

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Identifiers

PMID: 17363630
DOI: 10.1126/science.1138659
PMCID: PMC2993504

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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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