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

• Published in: JAMA : the journal of the American Medical Association Vol. 314; no. 9; pp. 895 - 903
• Main Authors: Tammimies, Kristiina, Marshall, Christian R, Walker, Susan, Kaur, Gaganjot, Thiruvahindrapuram, Bhooma, Lionel, Anath C, Yuen, Ryan K. C, Uddin, Mohammed, Roberts, Wendy, Weksberg, Rosanna, Woodbury-Smith, Marc, Zwaigenbaum, Lonnie, Anagnostou, Evdokia, Wang, Zhuozhi, Wei, John, Howe, Jennifer L, Gazzellone, Matthew J, Lau, Lynette, Sung, Wilson W. L, Whitten, Kathy, Vardy, Cathy, Crosbie, Victoria, Tsang, Brian, D’Abate, Lia, Tong, Winnie W. L, Luscombe, Sandra, Doyle, Tyna, Carter, Melissa T, Szatmari, Peter, Stuckless, Susan, Merico, Daniele, Stavropoulos, Dimitri J, Scherer, Stephen W, Fernandez, Bridget A
• Format: Journal Article
• Language: English
• Published: United States American Medical Association 01.09.2015
• Subjects: Asperger Syndrome - diagnosis; Asperger Syndrome - genetics; Autism; Autistic Disorder - diagnosis; Autistic Disorder - genetics; Child; Child Development Disorders, Pervasive - diagnosis; Child Development Disorders, Pervasive - genetics; Child Development Disorders, Pervasive - pathology; Child, Preschool; Children & youth; Diagnostic tests; Exome; Female; Genotype & phenotype; Humans; Male; Microarray Analysis - methods; Microarray Analysis - statistics & numerical data; Molecular Diagnostic Techniques - methods; Molecular Diagnostic Techniques - statistics & numerical data; Molecules; Morphology; Mutation; Oligonucleotide Array Sequence Analysis - statistics & numerical data; Pediatrics; Phenotype; Sequence Analysis, DNA - methods; Sequence Analysis, Protein - methods

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...