Research output per year
Research output per year
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Dive into the research topics where Kári Stefánsson is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways
Kjærsgaard Andersen, R., Stefánsdóttir, L., Riis, P. T., Halldórsson, G. H., Ferkingstad, E., Oddsson, A., Walters, B., Ólafsdóttir, Þ. Á., Rutsdottir, G., Zachariae, C., Thomsen, S. F., Brodersen, T., Dinh, K. M., Knowlton, K. U., Knight, S., Nadauld, L. D., Banasik, K., Brunak, S., Hansen, T. F. & Hjalgrim, H. & 23 others, , Apr 2025, In: Journal of the American Academy of Dermatology. 92, 4, p. 761-772 12 p.Landspitali - The National University Hospital of Iceland, Iceland, University of Iceland
Research output: Contribution to journal › Article › peer-review
Open AccessFile2 Downloads (Pure) -
A partial loss-of-function variant in STAT6 protects against type 2 asthma
Kristjansdottir, K., Norddahl, G. L., Ivarsdottir, E. V., Halldórsson, G. H., Einarsson, G., Bjarnadottir, K., Rutsdottir, G., Arnthorsson, A. O., Erikstrup, C., Gudmundsdottir, S., Gunnarsdottir, K., Gunnbjörnsdóttir, M. I., Halldórsson, B. V., Holm, H., Lúðvíksdóttir, D., Lúðvíksson, B. R., Brunak, S., Bruun, M. T., Mikkelsen, C. & Mikkelsen, S. & 25 others, , Jan 2025, In: The Journal of allergy and clinical immunology. 155, 1, p. 228-235 8 p.University of Iceland, Iceland, Landspitali - The National University Hospital of Iceland, Reykjavik University
Research output: Contribution to journal › Article › peer-review
Open AccessFile9 Downloads (Pure) -
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies
Mattioli, F., Friðriksdóttir, R., Hebert, A., Bassani, S., Ibrahim, N., Naz, S., Chrast, J., Pailler-Pradeau, C., Oddsson, Á., Sulem, P., Halldorsson, G. H., Melsted, P., Guðbjartsson, D. F., Palombo, F., Pippucci, T., Nouri, N., Seri, M., Farrow, E. G., Saunders, C. J. & Guex, N. & 3 others, , Dec 2025, In: Genome Medicine. 17, 1, 38.University of Iceland, Iceland
Research output: Contribution to journal › Article › peer-review
Open Access -
Complete human recombination maps
Palsson, G., Hardarson, M. T., Jonsson, H., Steinthorsdottir, V., Stefansson, O. A., Eggertsson, H. P., Gudjonsson, S. A., Olason, P. I., Gylfason, A., Masson, G., Thorsteinsdottir, U., Sulem, P., Helgason, A., Gudbjartsson, D. F., Halldorsson, B. V. & Stefansson, K., 22 Jan 2025, In: Nature. 639, 8055, p. 700-707 8 p., 14994.University of Iceland, Iceland, Reykjavik University
Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum
Genes & Health Research Team, Estonian Biobank Research Team, Estonian Health Informatics Research Team, DBDS Genomic Consortium, FinnGen, Haraldsson, Á., Jónsdóttir, I., Ólafsson, Í., Steingrímsdóttir, Þ. & Stefánsson, K., May 2025, In: Nature Genetics. 57, 5, p. 1107-1118 12 p., 22.Landspitali - The National University Hospital of Iceland, Iceland, University of Iceland
Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Downloads (Pure)
Press/Media
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The $100 genome: What breaking this accessibility barrier means for the future of genetic testing
30/01/23
1 item of Media coverage
University of Iceland, Iceland
Press/Media
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The human genome needs updating. But how do we make it fair? | Genetics
29/01/23
1 item of Media coverage
University of Iceland, Iceland
Press/Media
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The human genome needs updating. But how do we make it fair?
29/01/23
9 items of Media coverage
University of Iceland, Iceland
Press/Media
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Amgen, Illumina, and Nashville Biosciences Announce Genome Sequencing Agreement
26/01/23
2 items of Media coverage
University of Iceland, Iceland
Press/Media
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#JPM23 with Robert Nelsen: Our motto is 'do cool s@*t'
20/01/23
1 item of Media coverage
University of Iceland, Iceland
Press/Media