Journal article
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
Abstract
Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes and is associated with numerous conditions, including autism spectrum disorder (ASD), epilepsy, schizophrenia, and intellectual disability; however, the mechanisms underlying the pathogenesis of 15q13.3 microdeletion syndrome remain unknown. We combined whole-genome …
Authors
Uddin M; Unda BK; Kwan V; Holzapfel NT; White SH; Chalil L; Woodbury-Smith M; Ho KS; Harward E; Murtaza N
Journal
American Journal of Human Genetics, Vol. 102, No. 2, pp. 278–295
Publisher
Elsevier
Publication Date
February 2018
DOI
10.1016/j.ajhg.2018.01.006
ISSN
0002-9297