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Article

Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review.

JAMA psychiatry - 1 Aug 2022

Raznahan Armin, Won Hyejung, Glahn David C, Jacquemont Sébastien

Abstract excerpt

Importance: Rare genetic disorders modulating gene expression-as exemplified by gene dosage disorders (GDDs)-represent a collectively common set of high-risk factors for neuropsychiatric illness. Research on GDDs is rapidly expanding because these variants have high effect sizes and a known genetic basis. Moreover, the prevalence of recurrent GDDs (encompassing aneuploidies and certain copy number variations)...

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PMID: 35767289
DOI: 10.1001/jamapsychiatry.2022.1450

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