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Showing 1–3 of 3 results
Advanced filters: Author: Sunna Arnarsdottir Clear advanced filters

  • Rare copy-number variants (CNVs) conferring risk of schizophrenia or autism affect fecundity of carriers in Iceland, and carriers of these CNVs who do not suffer disease or have not been diagnosed with intellectual disability show phenotypes in brain structure and cognitive abilities between those of non-carrier controls and patients with schizophrenia.

    • Hreinn Stefansson
    • Andreas Meyer-Lindenberg
    • Kari Stefansson
    Research
    Nature
    Volume: 505, P: 361-366

  • Kari Stefansson and colleagues identify a nonsense mutation in RBM12 segregating with psychosis in an extended Icelandic pedigree and an independent frameshift mutation in RBM12 segregating with psychosis in a Finnish family. They further show that carriers of the Icelandic mutation who are unaffected by psychosis exhibit a psychiatric disorder and cognitive test battery profile resembling that of patients with schizophrenia.

    • Stacy Steinberg
    • Steinunn Gudmundsdottir
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 49, P: 1251-1254