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

doi:10.1001/jama.2015.10078

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Article

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

JAMA - 1 Sept 2015

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

Abstract excerpt

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. DESIGN, SETTING,...

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PMID: 26325558
DOI: 10.1001/jama.2015.10078

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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