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Showing 1–14 of 14 results
Advanced filters: Author: Brynjar Sigurdsson Clear advanced filters

  • 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

  • Analysis of whole-genome sequencing data from Iceland and the UK Biobank identifies an excess burden of rare loss-of-function variants in HECTD2 and AKAP11 in individuals diagnosed with bipolar disorder.

    • Thorgeir E. Thorgeirsson
    • Vinicius Tragante
    • Kari Stefansson
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 851-855

  • 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

  • Mutations in genes encoding NAPDH oxidase subunits are known to be causative for the primary immunodeficiency chronic granulomatous disease (CGD). Here, the authors identify CYBC1 mutations in patients with CGD and show that CYBC1 is important for formation of the NADPH complex and respiratory burst.

    • Gudny A. Arnadottir
    • Gudmundur L. Norddahl
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-9

  • The concentration of SARS-CoV-2 changes during an individual’s infection, and mutations accumulate as viruses are transmitted between people. Here, the authors use data from Iceland to demonstrate how this information can be exploited at the population-level to determine the phase of the epidemic.

    • Hakon Jonsson
    • Olafur T. Magnusson
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-8

  • Genome-wide-association analyses of datasets from Iceland and the UK identify risk variants for nasal polyps and chronic rhinosinusitis. Notably, a loss-of-function missense variant in ALOX15 confers protection against both phenotypes, thus identifying a potential target for therapeutic intervention.

    • Ragnar P. Kristjansson
    • Stefania Benonisdottir
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 51, P: 267-276

  • Adult height has a strong genetic component and is highly heritable. Here the authors whole-genome sequence 8,453 Icelanders and find novel parent-of-origin derived associations in IGF2-H19 and DLK1-MEG3.

    • Stefania Benonisdottir
    • Asmundur Oddsson
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-10

  • Evgenia Mikaelsdottir et al. report a study of variants associated with platelet count among European individuals where they identify 577 associations. They also report a genetic overlap between platelet count and human diseases, including myeloproliferative neoplasms, rheumatoid arthritis, and hypertension, as well as a genetic overlap between platelet count and various physiological markers.

    • Evgenia Mikaelsdottir
    • Gudmar Thorleifsson
    • Kari Stefansson
    ResearchOpen Access
    Communications Biology
    Volume: 4, P: 1-13

  • Bell et al. report 46 new loci associated with biomarkers of iron homeostasis, including ferritin levels, iron binding capacity, and iron saturation, in the Icelandic, Danish and UK populations. The associated loci point to new iron-regulating proteins and important genetic differences between men and women.

    • Steven Bell
    • Andreas S. Rigas
    • Kari Stefansson
    ResearchOpen Access
    Communications Biology
    Volume: 4, P: 1-14

  • Gudjon Oskarsson et al. report a genome-wide association study of hemoglobin concentration in more than 680,000 individuals from Iceland and the UK. They identify six novel rare coding variants at the ACO1 locus that associate with either increased or decreased hemoglobin concentration, two of which have large and opposite effects.

    • Gudjon R. Oskarsson
    • Asmundur Oddsson
    • Kari Stefansson
    ResearchOpen Access
    Communications Biology
    Volume: 3, P: 1-10

  • Aimee Deaton et al. identify a rare missense variant in the bile acid receptor gene NR1H4, which is associated with lower levels of total cholesterol in the Icelandic population. Hepatocytes expressing the missense variant showed altered expression of a small number of genes, with enrichment in lipid-related pathways.

    • Aimee M. Deaton
    • Patrick Sulem
    • Kari Stefansson
    ResearchOpen Access
    Communications Biology
    Volume: 1, P: 1-9