Article
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Human molecular genetics - 1 Aug 2012
Griswold Anthony J, Ma Deqiong, Cukier Holly N, Nations Laura D, Schmidt Mike A, Chung Ren-Hua, Jaworski James M, Salyakina Daria, Konidari Ioanna, Whitehead Patrice L, Wright Harry H, Abramson Ruth K, Williams Scott M, Menon Ramkumar, Martin Eden R, Haines Jonathan L, Gilbert John R, Cuccaro Michael L, Pericak-Vance Margaret A
Abstract excerpt
Autism spectrum disorders (ASDs) are highly heritable, yet relatively few associated genetic loci have been replicated. Copy number variations (CNVs) have been implicated in autism; however, the majority of loci contribute to <1% of the disease population. Therefore, independent studies are important to refine associated CNV regions and discover novel susceptibility genes. In this study, a genome-wide SNP array...
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