Strong Association of De Novo Copy Number Mutations with Autism

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

doi:10.1126/science.1138659

Public

Strong Association of De Novo Copy Number Mutations with Autism

Published in Science • Mar 15, 2007

Authors:

Jonathan Sebat

B. Lakshmi

Dheeraj Malhotra

Abstract

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. C...

Subject

Copy-number variation

Comparative genomic hybridization

Genetics

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