Þórunn Rafnar

Biochemistry, Genetics and Molecular Biology · Life Sciences

80h-index31.3kcitations232works12.62yr avg
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Research Topics

Genetic Associations and Epidemiology(54), Epigenetics and DNA Methylation(30), RNA modifications and cancer(26), BRCA gene mutations in cancer(25), Cancer Genomics and Diagnostics(22)

Publications216 total

A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury
Repository@Nottingham (University of Nottingham)·2026Open Access
Genome-wide association study and polygenic risk prediction of hypothyroidism
Nature Genetics·2025Open Access
Breast cancer risk prediction with a modified BOADICEA model in Danish women
British Journal of Cancer·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
Whole-genome sequencing of 490,640 UK Biobank participants
Nature·2025· 47 citedOpen Access
Genome-wide meta-analysis identifies nine loci associated with higher risk of hepatocellular carcinoma development
JHEP Reports·2025· 5 citedOpen Access
IDENTIFICATION OF OVER 40 NOVEL TESTICULAR GERM CELL TUMOR SUSCEPTIBILITY LOCI
Urologic Oncology Seminars and Original Investigations·2025
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study
The American Journal of Human Genetics·2025· 4 citedOpen Access
Novel loci and biomedical consequences of iron homoeostasis variation
Communications Biology·2024· 8 citedOpen Access
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes
Nature Genetics·2024· 15 citedOpen Access
Genetic links between ovarian ageing, cancer risk and de novo mutation rates
Nature·2024· 39 citedOpen Access
Genome-Wide Association Study of Accessory Atrioventricular Pathways
JAMA Cardiology·2024· 4 citedOpen Access
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency
Nature Genetics·2024· 8 citedOpen Access
Deciphering the genetics and mechanisms of predisposition to multiple myeloma
Nature Communications·2024· 19 citedOpen Access
The correlation between CpG methylation and gene expression is driven by sequence variants
Nature Genetics·2024· 47 citedOpen Access
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease
Nature Communications·2024· 5 citedOpen Access
Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations
Nature·2024· 14 citedOpen Access
Actionable Genotypes and Their Association with Life Span in Iceland
New England Journal of Medicine·2023· 50 cited
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis
Nature Genetics·2023· 61 citedOpen Access
Large-scale plasma proteomics comparisons through genetics and disease associations
Nature·2023· 420 citedOpen Access
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Frequent Co-authors

Patrick Sulem(45), Kāri Stefánsson(45), Unnur Þorsteinsdóttir(42), Daníel F. Guðbjartsson(41), Guðmar Þorleifsson(31), Lambertus A. Kiemeney(31), Augustine Kong(31), Simon Stacey(25), Gísli Másson(24), Katja K.H. Aben(23), Jeffrey R. Gulcher(22), Ásgeir Sigurðsson(22), José Mayordomo(21), Jūlı́us Guðmundsson(19), Hilma Hólm(16), Margret Jakobsdottir(15), Kristleifur Kristjánsson(15), Agnar Helgason(14), Sigurjón A. Guðjónsson(14), Berta Sáez(13)