Article
Mutational Landscape of Autism Spectrum Disorder Brain Tissue.
Genes - 24 Jan 2022
Woodbury-Smith Marc, Lamoureux Sylvia, Begum Ghausia, Nassir Nasna, Akter Hosneara, O'Rielly Darren D, Rahman Proton, Wintle Richard F, Scherer Stephen W, Uddin Mohammed
Abstract excerpt
Rare post-zygotic mutations in the brain are now known to contribute to several neurodevelopmental disorders, including autism spectrum disorder (ASD). However, due to the limited availability of brain tissue, most studies rely on estimates of mosaicism from peripheral samples. In this study, we undertook whole exome sequencing on brain tissue from 26 ASD brain donors from the Harvard Brain Tissue Resource Center...
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