Article
Association between microdeletion and microduplication at 16p11.2 and autism.
The New England journal of medicine - 14 Feb 2008
Weiss Lauren A, Shen Yiping, Korn Joshua M, Arking Dan E, Miller David T, Fossdal Ragnheidur, Saemundsen Evald, Stefansson Hreinn, Ferreira Manuel A R, Green Todd, Platt Orah S, Ruderfer Douglas M, Walsh Christopher A, Altshuler David, Chakravarti Aravinda, Tanzi Rudolph E, Stefansson Kari, Santangelo Susan L, Gusella James F, Sklar Pamela, Wu Bai-Lin, Daly Mark J
Abstract excerpt
BACKGROUND: Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role. METHODS: As a first component of a genomewide association study of families from the Autism Genetic Resource Exchange (AGRE), we used two novel algorithms to search for recurrent copy-number variations in genotype data from 751 multiplex families with autism. Specific recurrent...
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