Article
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Molecular genetics & genomic medicine - 1 Mar 2018
Kalsner Louisa, Twachtman-Bassett Jennifer, Tokarski Kristin, Stanley Christine, Dumont-Mathieu Thyde, Cotney Justin, Chamberlain Stormy
Abstract excerpt
BACKGROUND: Genetic testing of children with autism spectrum disorder (ASD) is now standard in the clinical setting, with American College of Medical Genetics and Genomics (ACMGG) guidelines recommending microarray for all children, fragile X testing for boys and additional gene sequencing, including PTEN and MECP2, in appropriate patients. Increasingly, testing utilizing high throughput sequencing, including...
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