Use of genome-wide methods toward assessment of children with autism spectrum disorder
Kristiina Tammimies, PhD
Wednesday, January 20, 2016
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Chapters
Introduction
Autism Spectrum Disorder
Genetic testing and ASD
Investigate the use of CMA and WES in unselected ASD population
Children with ASD typically seen in pediatric clinic
Phenotypic characteristics of the sample
Genetic analyses
Molecular diagnostic yield of CMA and WES is comparable in children with ASD
Increased yield in children with higher morphological scores
More de novo mutations in children within the complex group
Example of positive findings: Proband 3-0095-000
Research genetic testing Proband 3-0095-000
Mutations in WAC in different developmental disorders
Summary
Acknowledgments
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