Kári Stefánsson

Emailkstefanshiis

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682 Article
45 Comment/debate
31 Letter
12 Review article
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Quinodoz, M., Rodenburg, K., Cvackova, Z., Kaminska, K., de Bruijn, S. E., Iglesias-Romero, A. B., Boonen, E. G. M., Ullah, M., Zomer, N., Folcher, M., Bijon, J., Holtes, L. K., Tsang, S. H., Corradi, Z., Freund, K. B., Shliaga, S., Panneman, D. M., Hitti-Malin, R. J., Ali, M. & AlTalbishi, A. & 168 others, Andréasson, S., Ansari, G., Arno, G., Astuti, G. D. N., Ayuso, C., Ayyagari, R., Banfi, S., Banin, E., Barakat, T. S., Barboni, M. T. S., Bauwens, M., Ben-Yosef, T., Bernard, V., Birch, D. G., Biswas, P., Blanco-Kelly, F., Bocquet, B., Boon, C. J. F., Branham, K., Bremond-Gignac, D., Britten-Jones, A. C., Bujakowska, K. M., Burin des Roziers, C., Cadena, E. L., Calzetti, G., Cancellieri, F., Cattaneo, L., Chadderton, N., Charbel Issa, P., Coutinho-Santos, L., Daiger, S. P., De Baere, E., De Bruyne, M., de la Cerda, B., De Roach, J. N., De Zaeytijd, J., Derks, R., Dhaenens, C. M., Dudakova, L., Duncan, J. L., Farrar, G. J., Feltgen, N., Fenner, B. J., Fernández-Caballero, L., Ferraz Sallum, J. M., Gana, S., Garanto, A., Gardner, J. C., Gilissen, C., Gonzàlez-Duarte, R., Goto, K., Griffiths-Jones, S., Haack, T. B., Haer-Wigman, L., Hardcastle, A. J., Hayashi, T., Héon, E., Hoefsloot, L. H., Hoischen, A., Holtan, J. P., Hoyng, C. B., Ibanez, M. B. B., Inglehearn, C. F., Iwata, T., Jensson, B. O., Jones, K., Kalatzis, V., Kamakari, S., Karali, M., Kellner, U., Klaver, C. C. W., Knézy, K., Koenekoop, R. K., Kohl, S., Kominami, T., Kühlewein, L., Lamey, T. M., Leibu, R., Leroy, B. P., Liskova, P., Lopez, I., López-Rodríguez, V. R. D. J., Mahieu, Q., Mahroo, O. A., Manes, G., Mansard, L., Martín-Gutiérrez, M. P., Martins, N., Mauring, L., McKibbin, M., McLaren, T. L., Meunier, I., Michaelides, M., Millán, J. M., Mizobuchi, K., Mukherjee, R., Nagy, Z. Z., Neveling, K., Ołdak, M., Oorsprong, M., Pan, Y., Papachristou, A., Percesepe, A., Pfau, M., Pierce, E. A., Place, E., Ramesar, R., Ramond, F., Rasquin, F. A., Rice, G. I., Roberts, L., Rodríguez-Hidalgo, M., Ruiz-Ederra, J., Sabir, A. H., Sajiki, A. F., Sánchez-Barbero, A. I., Sarma, A. S., Sangermano, R., Santos, C. M., Scarpato, M., Scholl, H. P. N., Sharon, D., Signorini, S. G., Simonelli, F., Sousa, A. B., Stefaniotou, M., Stefansson, K., Stingl, K., Suga, A., Sulem, P., Sullivan, L. S., Szabó, V., Szaflik, J. P., Taurina, G., Thiadens, A. A. H. J., Toomes, C., Tran, V. H., Tsilimbaris, M. K., Tsoka, P., Vaclavik, V., Vajter, M., Valeina, S., Valente, E. M., Valentine, C., Valero, R., Valleix, S., van Aerschot, J., van den Born, L. I., Van Heetvelde, M., Verhoeven, V. J. M., Vincent, A. L., Webster, A. R., Whelan, L., Wissinger, B., Yioti, G. G., Yoshitake, K., Zenteno, J. C., Zeuli, R., Zuleger, T., Landau, C., Jacob, A. I., Lin, S., Cremers, F. P. M., Lee, W., Ellingford, J. M., Stanek, D., Roosing, S. & Rivolta, C., Jan 2026, In: Nature Genetics. 58, 1, p. 169-179 11 p.
University of Iceland
Research output: Contribution to journal › Article › peer-review

Open Access
Diagnosing migraine from genome-wide genotype data: a machine learning analysis
The International Headache Genetics Consortium, 1 Jan 2026, In: Brain. 149, 1, p. 290-301 12 p.
University of Iceland
Research output: Contribution to journal › Article › peer-review

Open Access
Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases
Penn Medicine BioBank, Virtual Thyroid Biopsy Consortium, Colorado Center for Personalized Medicine, Genes & Health Research Team, The Biobank Japan Project & Global Biobank Meta-analysis Initiative, 2026, (Accepted/In press) In: Nature Genetics.
University of Iceland
Research output: Contribution to journal › Article › peer-review

Open Access
Mapping the genetic landscape across 14 psychiatric disorders
Obsessive-Compulsive Disorder and Tourette Syndrome Working Group of the Psychiatric Genomics Consortium, Post-Traumatic Stress Disorder Working Group of the Psychiatric Genomics Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Substance Use Disorders Working Group of the Psychiatric Genomics Consortium, Anxiety Disorders Working Group of the Psychiatric Genomics Consortium, Attention-Deficit/Hyperactivity Disorder (ADHD) Working Group of the Psychiatric Genomics Consortium, Autism Spectrum Disorders Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium & Nicotine Dependence GenOmics (iNDiGO) Consortium, 8 Jan 2026, In: Nature. 649, 8096, p. 406-415 10 p.
University of Iceland
Research output: Contribution to journal › Article › peer-review

Open Access
Observational and Mendelian randomization studies of plasma sclerostin levels do not provide evidence of cardiovascular adverse effects of sclerostin inhibition
DBDS Genomic Consortium, 9 Feb 2026, In: Human molecular genetics. 35, 2
University of Iceland
Research output: Contribution to journal › Article › peer-review

The $100 genome: What breaking this accessibility barrier means for the future of genetic testing
Stefánsson, K.
30/01/23
1 item of Media coverage
University of Iceland
Press/Media
The human genome needs updating. But how do we make it fair? | Genetics
Stefánsson, K.
29/01/23
1 item of Media coverage
University of Iceland
Press/Media
The human genome needs updating. But how do we make it fair?
Stefánsson, K.
29/01/23
9 items of Media coverage
University of Iceland
Press/Media
Amgen, Illumina, and Nashville Biosciences Announce Genome Sequencing Agreement
Stefánsson, K.
26/01/23
2 items of Media coverage
University of Iceland
Press/Media
#JPM23 with Robert Nelsen: Our motto is 'do cool s@*t'
Stefánsson, K.
20/01/23
1 item of Media coverage
University of Iceland
Press/Media

Kári Stefánsson

Fingerprint

Collaborations and top research areas from the last five years

Dive into details

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Diagnosing migraine from genome-wide genotype data: a machine learning analysis

Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases

Mapping the genetic landscape across 14 psychiatric disorders

Observational and Mendelian randomization studies of plasma sclerostin levels do not provide evidence of cardiovascular adverse effects of sclerostin inhibition

The $100 genome: What breaking this accessibility barrier means for the future of genetic testing

The human genome needs updating. But how do we make it fair? | Genetics

The human genome needs updating. But how do we make it fair?

Amgen, Illumina, and Nashville Biosciences Announce Genome Sequencing Agreement

#JPM23 with Robert Nelsen: Our motto is 'do cool s@*t'

Kári Stefánsson

Fingerprint

Collaborations and top research areas from the last five years

Research output

Press/Media