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Showing 1–6 of 6 results
Advanced filters: Author: Brynja B. Magnusdottir Clear advanced filters

  • A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation and sequence variation.

    • Keren Carss
    • Bjarni V. Halldorsson
    • Ole Schulz-Trieglaff
    ResearchOpen Access
    Nature
    Volume: 645, P: 692-701

  • To measure selection on variants, whole-genome sequencing of approximately 150,000 individuals from the UK Biobank is used to rank sequence variants by their level of depletion.

    • Bjarni V. Halldorsson
    • Hannes P. Eggertsson
    • Kari Stefansson
    ResearchOpen Access
    Nature
    Volume: 607, P: 732-740

  • 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

  • Here, in the first of three papers on the genetics of schizophrenia, a genome-wide association study of single nucleotide polymorphisms using data from several large genome-wide scans reveals significant associations to individual loci that implicate perturbations in immunity, brain development, memory and cognition in the predisposition to schizophrenia.

    • Hreinn Stefansson
    • Roel A. Ophoff
    • David A. Collier
    Research
    Nature
    Volume: 460, P: 744-747

  • The genetics of schizophrenia and other mental disorders are complex and poorly understood, and made even harder to study due to reduced reproduction resulting in negative selection pressure on risk alleles. Two independent large-scale genome wide studies of thousands of patients and controls by two international consortia confirm a previously identified locus, but also reveal novel associations. In this study, de novo (spontaneous) copy number variants are reported on chromosomes 1 and 15.

    • Hreinn Stefansson
    • Dan Rujescu
    • Kari Stefansson
    Research
    Nature
    Volume: 455, P: 232-236