Article
Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.
Annals of the New York Academy of Sciences - 1 Dec 2021
Cable Jennifer, Purcell Ryan H, Robinson Elise, Vorstman Jacob A S, Chung Wendy K, Constantino John N, Sanders Stephan J, Sahin Mustafa, Dolmetsch Ricardo E, Shah Bina Maniar, Thurm Audrey, Martin Christa L, Bearden Carrie E, Mulle Jennifer G
Abstract excerpt
Neurodevelopmental neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia, have strong genetic risk components, but the underlying mechanisms have proven difficult to decipher. Rare, high-risk variants may offer an opportunity to delineate the biological mechanisms responsible more clearly for more common idiopathic diseases. Indeed, different rare variants can cause the same behavioral...
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