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Showing 1–6 of 6 results
Advanced filters: Author: Anna M. Kristinsdottir Clear advanced filters

  • Endometriosis is a common gynaecological disease but the underlying pathogenesis is poorly understood, however there is a strong familial component. Here the authors conduct a genome wide association study and identify a novel susceptibility locus that correlates with disease severity.

    • Valgerdur Steinthorsdottir
    • Gudmar Thorleifsson
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-6

  • Diagnosis and classification of peripheral neuropathy (PN) is facilitated by nerve conduction (NC) studies. Here, Bjornsdottir et al. find a low-frequency PRPH splice-donor variant that associates with NC amplitude and neurological assessment of recalled PRPH variant carriers reveals increased risk of a mild sensory-negative PN.

    • Gyda Bjornsdottir
    • Erna V. Ivarsdottir
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-10

  • Asthma is a common allergic airway disease with significant inter-individual heterogeneity. Here, Olafsdottir et al. report a genome-wide meta-analysis of two large population-based cohorts to identify sequence variants that associate with asthma risk and perform follow-up functional analyses on a protective loss-of-function variant in TNFRSF8.

    • Thorunn A. Olafsdottir
    • Fannar Theodors
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-11

  • Basal cell carcinoma is a common cancer among people of European ancestry, with associated high economic costs to monitor and treat. Here Stacey et al.conduct a genome-wide association study on Icelandic and other European populations, identifying four novel loci associated with cancer susceptibility.

    • Simon N. Stacey
    • Hannes Helgason
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-10

  • Holm, Ivarsdottir, Olafsdottir et al. compare symptoms and physical measures between Icelanders post SARS-CoV-2 infection with uninfected controls. From reported symptoms, they estimate the prevalence of long COVID as 7% at a median of 8 months after infection, while objective differences between cases and controls in the physical measures were few.

    • Hilma Holm
    • Erna V. Ivarsdottir
    • Kari Stefansson
    ResearchOpen Access
    Communications Medicine
    Volume: 3, P: 1-13

  • 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