Article
High-impact rare genetic variants in severe schizophrenia.
Proceedings of the National Academy of Sciences of the United States of America - 21 Dec 2021
Zoghbi Anthony W, Dhindsa Ryan S, Goldberg Terry E, Mehralizade Aydan, Motelow Joshua E, Wang Xinchen, Alkelai Anna, Harms Matthew B, Lieberman Jeffrey A, Markx Sander, Goldstein David B
Abstract excerpt
Extreme phenotype sequencing has led to the identification of high-impact rare genetic variants for many complex disorders but has not been applied to studies of severe schizophrenia. We sequenced 112 individuals with severe, extremely treatment-resistant schizophrenia, 218 individuals with typical schizophrenia, and 4,929 controls. We compared the burden of rare, damaging missense and loss-of-function variants...
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