Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Choose more journals

Article type Check one or more article types to show results from those article types only.
Subject Check one or more subjects to show results from those subjects only.
Date Choose a date option to show results from those dates only.

Custom date range

Clear all filters
Sort by:
Showing 1–19 of 19 results
Advanced filters: Author: "Patrick Sulem" Clear advanced filters

  • Patrick Sulem and colleagues report a genome-wide association study of age at menarche, finding and replicating an association with LIN28B. The authors test a number of variants previously associated with height and BMI and find that five loci previously associated with BMI are also associated with age at menarche.

    • Patrick Sulem
    • Daniel F Gudbjartsson
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 41, P: 734-738

  • Creatine kinase (CK) and lactate dehydrogenase (LDH) are biomarkers of tissue damages including myopathy and myocardial infarction. Here, Patrick Sulem and colleagues perform a genome-wide association study to identify common and rare genetic variants that associates with serum CK or LDH levels.

    • Ragnar P. Kristjansson
    • Asmundur Oddsson
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-8

  • Patrick Sulem, Hannes Helgason and colleagues identify homozygous and compound heterozygous loss-of-function variants of minor allele frequency <2% in 7.7% of the genotyped Icelandic population. Under transmission of some of these variants from heterozygous parents provides evidence that they are actually deleterious.

    • Patrick Sulem
    • Hannes Helgason
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 47, P: 448-452

  • Patrick Sulem, Daniel Gudbjartsson, Bragi Walters and colleagues identify two low-frequency variants associated with serum uric acid levels and gout in the Icelandic population. The variants were discovered by whole-genome sequencing and are associated with two- to threefold differences in disease risk.

    • Patrick Sulem
    • Daniel F Gudbjartsson
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 43, P: 1127-1130

  • Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. Here, using genetic data for 1.52 million individuals, the authors identify 25 genes with protein-altering variants exhibiting a strong deficit of homozygosity, suggesting they are essential for successful early development.

    • Asmundur Oddsson
    • Patrick Sulem
    • Daniel F. Gudbjartsson
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-15

  • Comparisons of phenotypic and genetic association with protein levels from Icelandic and UK Biobank cohorts show that using multiple analysis platforms and stratifying populations by ancestry improves the detection of associations and allows the refinement of their location within the genome.

    • Grimur Hjorleifsson Eldjarn
    • Egil Ferkingstad
    • Kari Stefansson
    ResearchOpen Access
    Nature
    Volume: 622, P: 348-358

  • While the consequences of homozygous loss of function variants have been studied, the effect of missense variants is less understood. Here, the authors identify pathogenic genotypes through an observed deficit of homozygous carriers of missense variants in a population, elucidating previously unexplained recessive disease and miscarriage.

    • Gudny A. Arnadottir
    • Asmundur Oddsson
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-9

  • 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

  • Genome-wide association studies have so far identified eight risk loci for gallstone disease. Here, the authors perform meta-analysis in cohorts from Iceland and the UK which reveals further 21 common and low-frequency risk variants that highlight the role of bile acid homeostasis in gallstone disease.

    • Egil Ferkingstad
    • Asmundur Oddsson
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-11

  • 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

  • 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