Article
Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.
Critical reviews in clinical laboratory sciences - 1 Oct 2014
Jiang Yong-Hui, Wang Yi, Xiu Xu, Choy Kwong Wai, Pursley Amber Nolen, Cheung Sau W
Abstract excerpt
A genetic etiology for autism spectrum disorders (ASDs) was first suggested from twin studies reported in the 1970s. The identification of gene mutations in syndromic ASDs provided evidence to support a genetic cause of ASDs. More recently, genome-wide copy number variant and sequence analyses have uncovered a list of rare and highly penetrant copy number variants (CNVs) or single nucleotide variants (SNVs)...
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