Article
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
PLoS genetics - 1 Nov 2011
Girirajan Santhosh, Brkanac Zoran, Coe Bradley P, Baker Carl, Vives Laura, Vu Tiffany H, Shafer Neil, Bernier Raphael, Ferrero Giovanni B, Silengo Margherita, Warren Stephen T, Moreno Carlos S, Fichera Marco, Romano Corrado, Raskind Wendy H, Eichler Evan E
Abstract excerpt
While numerous studies have implicated copy number variants (CNVs) in a range of neurological phenotypes, the impact relative to disease severity has been difficult to ascertain due to small sample sizes, lack of phenotypic details, and heterogeneity in platforms used for discovery. Using a customized microarray enriched for genomic hotspots, we assayed for large CNVs among 1,227 individuals with various...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.