Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Tammimies, Kristiina; R. Marshall, Christian; Walker, Susan; Kaur, Gaganjot; Thiruvahindrapuram, Bhooma; C. Lionel, Anath; K. C. Yuen, Ryan; Uddin, Mohammed; Roberts, Wendy; Weksberg, Rosanna; Woodbury‐Smith, Marc; Zwaigenbaum, Lonnie; Anagnostou, Evdokia; Wang, Zhuozhi; Wei, John; Howe, Jennifer; J. Gazzellone, Matthew; Lau, Lynette; W. L. Sung, Wilson; Whitten, Kathy; Vardy, Cathy; Crosbie, Victoria; Tsang, Brian; D’Abate, Lia; W. L. Tong, Winnie; Luscombe, Sandra; Doyle, Tyna; T. Carter, Melissa; Szatmári, Péter; Stuckless, Susan; Merico, Daniele; J. Stavropoulos, Dimitri; W. Scherer, Stephen; A. Fernandez, Bridget

doi:10.1001/jama.2015.10078

Public

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Published in JAMA • Sep 1, 2015

Authors:

Kristiina Tammimies

Christian R. Marshall

Susan Walker

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...

Subject

Medicine

Proband

Autism spectrum disorder

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