Article
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Human genetics - 1 Feb 2015
Woodbury-Smith Marc, Paterson Andrew D, Thiruvahindrapduram Bhooma, Lionel Anath C, Marshall Christian R, Merico Daniele, Fernandez Bridget A, Duku Eric, Sutcliffe James S, O'Conner Irene, Chrysler Christina, Thompson Ann, Kellam Barbara, Tammimies Kristiina, Walker Susan, Yuen Ryan K C, Uddin Mohammed, Howe Jennifer L, Parlier Morgan, Whitten Kathy, Szatmari Peter, Vieland Veronica J, Piven Joseph, Scherer Stephen W
Abstract excerpt
Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder (ASD) is one such disorder, in which evidence is emerging for an etiological role for some rare penetrant de novo and rare inherited copy number variants (CNVs). De novo variation, however, does not always explain the familial nature of ASD, leaving a gap in...
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