Kāri Stefánsson

Biochemistry, Genetics and Molecular Biology · Life Sciences

217h-index205.8kcitations1.1kworks15.52yr avg
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Research Topics

Genetic Associations and Epidemiology(319), Genomics and Rare Diseases(80), Epigenetics and DNA Methylation(78), Genomic variations and chromosomal abnormalities(72), Genetics and Neurodevelopmental Disorders(54)

Publications868 total

A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury
Repository@Nottingham (University of Nottingham)·2026Open Access
Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction
Nature Genetics·2025· 2 citedOpen Access
Genome-wide meta-analyses of non-response to antidepressants provide insights into underlying molecular genetics and suggest potential pharmacotherapies
Molecular Psychiatry·2025
African-ancestry-specific variant IKKβ p.Glu502Lys confers high lupus risk
Nature Genetics·2025Open Access
Observational and Mendelian randomization studies of plasma sclerostin levels do not provide evidence of cardiovascular adverse effects of sclerostin inhibition
Human Molecular Genetics·2025
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program
UNC Libraries·2025Open Access
The burden of endometriosis on quality of life in Danish women: an analysis of the Danish Blood Donor Study
BMC Medicine·2025Open Access
Sequence Diversity Lost in Early Pregnancy
Obstetrical & Gynecological Survey·2025
Autoantibody-defined subsets of patients with systemic lupus erythematosus associate with clinical manifestations, NCF2, and HLA DR3-DQ2 genotypes
Translational research·2025Open Access
The genetic architecture of fibromyalgia across 2.5 million individuals
2025Open Access
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
UNC Libraries·2025Open Access
Whole-genome sequencing of 490,640 UK Biobank participants
Nature·2025· 47 citedOpen Access
Associations of healthy lifestyle and genetic susceptibility with risks of osteoarthritis: a prospective cohort study
Lara D. Veeken·2025
Genome-wide meta-analysis identifies nine loci associated with higher risk of hepatocellular carcinoma development
JHEP Reports·2025· 5 citedOpen Access
The burden of endometriosis on quality of life in Danish blood donors
2025Open Access
Sequence diversity lost in early pregnancy
Nature·2025· 13 citedOpen Access
Robust inference and widespread genetic correlates from a large-scale genetic association study of human personality
2025· 12 citedOpen Access
Global multi-ancestry genetic study elucidates genes and biological pathways associated with thyroid cancer and benign thyroid diseases
2025· 2 citedOpen Access
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome
2025· 1 citedOpen Access
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum
Nature Genetics·2025· 12 citedOpen Access
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Frequent Co-authors

Unnur Þorsteinsdóttir(36), Augustine Kong(32), Daníel F. Guðbjartsson(31), Hreinn Stefánsson(24), Guðmar Þorleifsson(23), Jeffrey R. Gulcher(22), Patrick Sulem(22), Agnar Helgason(18), Gísli Másson(16), G. Bragi Walters(13), Þórunn Rafnar(13), Stacy Steinberg(12), Arnaldur Gylfason(12), Ásgeir Sigurðsson(12), Andrei Manolescu(11), Michael L. Frigge(11), Valgerður Steinthórsdóttir(11), Anna Helgadóttir(10), Áslaug Jónasdóttir(10), Lambertus A. Kiemeney(10)