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Showing 1–3 of 3 results
Advanced filters: Author: Minna Torniainen-Holm Clear advanced filters

  • Various types of genetic variation contribute to the etiology of intellectual disability (ID). Here, the authors study a cohort of ID patients enriched for mild ID from Finland, to investigate contributions of rare and common variants associated with ID of different levels of severity.

    • Mitja I. Kurki
    • Elmo Saarentaus
    • Aarno Palotie
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-15

  • 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