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Showing 1–5 of 5 results
Advanced filters: Author: Steinunn Gudmundsdottir Clear advanced filters

  • Immunoglobulin G (IgG) is the main isotype of antibody in human blood. Here the authors describe 14 genetic variants that affect IgG levels in blood. The data provide new insight into the regulation of humoral immunity that could be useful in the development of antibody-based therapeutics.

    • Thorunn A. Olafsdottir
    • Gudmar Thorleifsson
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-13

  • A hallmark of diverticular disease is pouches in the bowel wall which can become infected and inflamed, causing the more severe diverticulitis. Here, the authors report the first genome-wide association study on these interconnected conditions and identifyARHGAP15, COLQ and FAM155Aas novel risk loci.

    • Snaevar Sigurdsson
    • Kristjan F. Alexandersson
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-7

  • 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

  • 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

  • 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