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Neuroimaging Findings in Neurodevelopmental Copy Number Variants: Identifying Molecular Pathways to Convergent Phenotypes.

Biological psychiatry - 1 Sept 2022

Silva Ana I, Ehrhart Friederike, Ulfarsson Magnus O, Stefansson Hreinn, Stefansson Kari, Wilkinson Lawrence S, Hall Jeremy, Linden David E J

Abstract excerpt

Genomic copy number variants (CNVs) are associated with a high risk of neurodevelopmental disorders. A growing body of genetic studies suggests that these high-risk genetic variants converge in common molecular pathways and that common pathways also exist across clinically distinct disorders, such as schizophrenia and autism spectrum disorder. A key question is how common molecular mechanisms converge into...

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PMID: 35659384
DOI: 10.1016/j.biopsych.2022.03.018

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