Journal article
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Abstract
IMPORTANCE: The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study.
OBJECTIVE: To perform chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in a heterogeneous group of children with ASD to determine the molecular diagnostic yield of these tests in a sample typical of a developmental pediatric clinic.
Authors
Tammimies K; Marshall CR; Walker S; Kaur G; Thiruvahindrapuram B; Lionel AC; Yuen RKC; Uddin M; Roberts W; Weksberg R
Journal
JAMA, Vol. 314, No. 9, pp. 895–903
Publisher
American Medical Association (AMA)
Publication Date
September 1, 2015
DOI
10.1001/jama.2015.10078
ISSN
0098-7484