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Showing 1–7 of 7 results
Advanced filters: Author: Pall H. Moller Clear advanced filters

  • Around 1 in 136 pregnancies is lost due to a pathogenic small sequence variant genotype in the fetus.

    • Gudny A. Arnadottir
    • Hakon Jonsson
    • Kari Stefansson
    ResearchOpen Access
    Nature
    Volume: 642, P: 672-681

  • 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

  • Lynch syndrome is characterized by predisposition to colorectal cancer and mutations in genes involved in mismatch repair. Here, the authors use whole genome sequencing and immunohistochemistry of mismatch repair proteins to show a high prevalence of Lynch syndrome in the Icelandic population.

    • Sigurdis Haraldsdottir
    • Thorunn Rafnar
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-11

  • Genome-wide analysis of age at menopause under a recessive model identifies a stop-gain variant in CCDC201 associated with primary ovarian insufficiency. This homozygous genotype is present in 1 in 10,000 women of northern European ancestry.

    • Asmundur Oddsson
    • Valgerdur Steinthorsdottir
    • Kari Stefansson
    ResearchOpen Access
    Nature Genetics
    Volume: 56, P: 1804-1810

  • 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