Article
Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.
PloS one - 1 Jan 2013
Matsunami Nori, Hadley Dexter, Hensel Charles H, Christensen G Bryce, Kim Cecilia, Frackelton Edward, Thomas Kelly, da Silva Renata Pellegrino, Stevens Jeff, Baird Lisa, Otterud Brith, Ho Karen, Varvil Tena, Leppert Tami, Lambert Christophe G, Leppert Mark, Hakonarson Hakon
Abstract excerpt
Structural variation is thought to play a major etiological role in the development of autism spectrum disorders (ASDs), and numerous studies documenting the relevance of copy number variants (CNVs) in ASD have been published since 2006. To determine if large ASD families harbor high-impact CNVs that may have broader impact in the general ASD population, we used the Affymetrix genome-wide human SNP array 6.0 to...
Topics
- Autistic Disorder
- Case-Control Studies
- Child
- Chromosomes, Human, Pair 15
- DNA Copy Number Variations
- Family
- Female
- Gene Regulatory Networks
- Genetic Loci