CNVs conferring risk of autism or schizophrenia affect cognition in controls.

doi:10.1038/nature12818

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Article

CNVs conferring risk of autism or schizophrenia affect cognition in controls.

Nature - 16 Jan 2014

Stefansson Hreinn, Meyer-Lindenberg Andreas, Steinberg Stacy, Magnusdottir Brynja, Morgen Katrin, Arnarsdottir Sunna, Bjornsdottir Gyda, Walters G Bragi, Jonsdottir Gudrun A, Doyle Orla M, Tost Heike, Grimm Oliver, Kristjansdottir Solveig, Snorrason Heimir, Davidsdottir Solveig R, Gudmundsson Larus J, Jonsson Gudbjorn F, Stefansdottir Berglind, Helgadottir Isafold, Haraldsson Magnus, Jonsdottir Birna, Thygesen Johan H, Schwarz Adam J, Didriksen Michael, Stensbøl Tine B, Brammer Michael, Kapur Shitij, Halldorsson Jonas G, Hreidarsson Stefan, Saemundsen Evald, Sigurdsson Engilbert, Stefansson Kari

Abstract excerpt

In a small fraction of patients with schizophrenia or autism, alleles of copy-number variants (CNVs) in their genomes are probably the strongest factors contributing to the pathogenesis of the disease. These CNVs may provide an entry point for investigations into the mechanisms of brain function and dysfunction alike. They are not fully penetrant and offer an opportunity to study their effects separate from that...

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PMID: 24352232
DOI: 10.1038/nature12818

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