Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Gisladottir, Svanborg, Simon, Mariella T., Arnthorsson, Asgeir O., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Ivarsdottir, Erna V., Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Barrick, Rebekah, Saemundsdottir, Jona, le Roux, Louise, Oskarsson, Gudjon R., Asmundsson, Jurate, Steffensen, Thora, Gudmundsson, Kjartan R., Ludvigsson, Petur, Jonsson, Jon J., Masson, Gisli, Jonsdottir, Ingileif, Holm, Hilma, Jonasson, Jon G., Magnusson, Olafur Th, Thorarensen, Olafur, Abdenur, Jose, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Bjornsson, Hans T., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Published in Nature communications (04.02.2022)
Published in Nature communications (04.02.2022)
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Journal Article
Multiple Genetic Loci for Bone Mineral Density and Fractures
Styrkarsdottir, Unnur, Halldorsson, Bjarni V, Gretarsdottir, Solveig, Gudbjartsson, Daniel F, Walters, G. Bragi, Ingvarsson, Thorvaldur, Jonsdottir, Thorbjorg, Saemundsdottir, Jona, Center, Jacqueline R, Nguyen, Tuan V, Bagger, Yu, Gulcher, Jeffrey R, Eisman, John A, Christiansen, Claus, Sigurdsson, Gunnar, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in The New England journal of medicine (29.05.2008)
Published in The New England journal of medicine (29.05.2008)
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Journal Article
Actionable Genotypes and Their Association with Life Span in Iceland
Jensson, Brynjar O., Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Helgason, Hannes, Oddsson, Asmundur, Sveinbjornsson, Gardar, Eggertsson, Hannes P., Halldorsson, Gisli H., Atlason, Bjarni A., Jonsson, Hakon, Oskarsson, Gudjon R., Sturluson, Arni, Gudjonsson, Sigurjon A., Thorisson, Gudmundur A., Zink, Florian, Moore, Kristjan H.S., Palsson, Gunnar, Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Magnusson, Magnus K., Helgadottir, Anna, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Stacey, Simon N., Hilmarsson, Rafn, Olafsson, Isleifur, Johannsson, Oskar T., Arnar, David O., Saemundsdottir, Jona, Magnusson, Olafur T., Masson, Gisli, Halldorsson, Bjarni V., Helgason, Agnar, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Stefansson, Kari, Sulem, Patrick
Published in The New England journal of medicine (09.11.2023)
Published in The New England journal of medicine (09.11.2023)
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Journal Article
Variant of transcription factor 7-like 2 ( TCF7L2 ) gene confers risk of type 2 diabetes
Grant, Struan F A, Stefansson, Kari, Thorleifsson, Gudmar, Reynisdottir, Inga, Benediktsson, Rafn, Manolescu, Andrei, Sainz, Jesus, Helgason, Agnar, Stefansson, Hreinn, Emilsson, Valur, Helgadottir, Anna, Styrkarsdottir, Unnur, Magnusson, Kristinn P, Walters, G Bragi, Palsdottir, Ebba, Jonsdottir, Thorbjorg, Gudmundsdottir, Thorunn, Gylfason, Arnaldur, Saemundsdottir, Jona, Wilensky, Robert L, Reilly, Muredach P, Rader, Daniel J, Bagger, Yu, Christiansen, Claus, Gudnason, Vilmundur, Sigurdsson, Gunnar, Thorsteinsdottir, Unnur, Gulcher, Jeffrey R, Kong, Augustine
Published in Nature genetics (01.03.2006)
Published in Nature genetics (01.03.2006)
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Journal Article
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database
Fridriksdottir, Run, Jonsson, Arnar J, Jensson, Brynjar O, Sverrisson, Kristinn O, Arnadottir, Gudny A, Skarphedinsdottir, Sigurbjorg J, Katrinardottir, Hildigunnur, Snaebjornsdottir, Steinunn, Jonsson, Hakon, Eiriksson, Ogmundur, Oskarsson, Gudjon R, Oddsson, Asmundur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Gisli H, Indridason, Einar P, Sigurdsson, Stefan B, Bjornsdottir, Gyda, Saemundsdottir, Jona, Magnusson, Olafur T, Bjornsson, Hans T, Thorsteinsdottir, Unnur, Sigurdsson, Theodor S, Sulem, Patrick, Sigurdsson, Martin I, Stefansson, Kari
Published in European journal of human genetics : EJHG (01.12.2021)
Published in European journal of human genetics : EJHG (01.12.2021)
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Journal Article
Predicting the probability of death using proteomics
Eiriksdottir, Thjodbjorg, Ardal, Steinthor, Jonsson, Benedikt A., Lund, Sigrun H., Ivarsdottir, Erna V., Norland, Kristjan, Ferkingstad, Egil, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Saemundsdottir, Jona, Norddahl, Gudmundur L., Thorgeirsson, Gudmundur, Gudbjartsson, Daniel F., Sulem, Patrick, Thorsteinsdottir, Unnur, Stefansson, Kari, Ulfarsson, Magnus O.
Published in Communications biology (18.06.2021)
Published in Communications biology (18.06.2021)
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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
Arnadottir, Gudny A, Jensson, Brynjar O, Marelsson, Sigurdur E, Sulem, Gerald, Oddsson, Asmundur, Kristjansson, Ragnar P, Benonisdottir, Stefania, Gudjonsson, Sigurjon A, Masson, Gisli, Thorisson, Gudmundur A, Saemundsdottir, Jona, Magnusson, Olafur Th, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Stefansson, Kari
Published in BMC medical genetics (02.10.2017)
Published in BMC medical genetics (02.10.2017)
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A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin
Oskarsson, Gudjon R., Kristjansson, Ragnar P., Lee, Amy L., Sveinbjornsson, Gardar, Magnusson, Magnus K., Ivarsdottir, Erna V., Benonisdottir, Stefania, Oddsson, Asmundur, Davidsson, Olafur B., Saemundsdottir, Jona, Halldorsson, Gisli H., Arthur, Joseph, Arnadottir, Gudny A., Masson, Gisli, Jensson, Brynjar O., Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Published in Communications biology (17.05.2018)
Published in Communications biology (17.05.2018)
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Journal Article
Large-scale whole-genome sequencing of the Icelandic population
Gudbjartsson, Daniel F, Helgason, Hannes, Gudjonsson, Sigurjon A, Zink, Florian, Oddson, Asmundur, Gylfason, Arnaldur, Besenbacher, Soren, Magnusson, Gisli, Halldorsson, Bjarni V, Hjartarson, Eirikur, Sigurdsson, Gunnar Th, Stacey, Simon N, Frigge, Michael L, Holm, Hilma, Saemundsdottir, Jona, Helgadottir, Hafdis Th, Johannsdottir, Hrefna, Sigfusson, Gunnlaugur, Thorgeirsson, Gudmundur, Sverrisson, Jon Th, Gretarsdottir, Solveig, Walters, G Bragi, Rafnar, Thorunn, Thjodleifsson, Bjarni, Bjornsson, Einar S, Olafsson, Sigurdur, Thorarinsdottir, Hildur, Steingrimsdottir, Thora, Gudmundsdottir, Thora S, Theodors, Asgeir, Jonasson, Jon G, Sigurdsson, Asgeir, Bjornsdottir, Gyda, Jonsson, Jon J, Thorarensen, Olafur, Ludvigsson, Petur, Gudbjartsson, Hakon, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Arnar, David O, Magnusson, Olafur Th, Kong, Augustine, Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Sulem, Patrick, Stefansson, Kari
Published in Nature genetics (01.05.2015)
Published in Nature genetics (01.05.2015)
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Journal Article
Large-scale plasma proteomics comparisons through genetics and disease associations
Eldjarn, Grimur Hjorleifsson, Ferkingstad, Egil, Lund, Sigrun H., Helgason, Hannes, Magnusson, Olafur Th, Gunnarsdottir, Kristbjorg, Olafsdottir, Thorunn A., Halldorsson, Bjarni V., Olason, Pall I., Zink, Florian, Gudjonsson, Sigurjon A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Gisli H., Magnusson, Magnus K., Saevarsdottir, Saedis, Eiriksdottir, Thjodbjorg, Masson, Gisli, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Thorleifsson, Gudmar, Ulfarsson, Magnus O., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Published in Nature (London) (12.10.2023)
Published in Nature (London) (12.10.2023)
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Journal Article
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation
Gudbjartsson, Daniel F, Holm, Hilma, Sulem, Patrick, Masson, Gisli, Oddsson, Asmundur, Magnusson, Olafur Th, Saemundsdottir, Jona, Helgadottir, Hafdis Th, Helgason, Hannes, Johannsdottir, Hrefna, Gretarsdottir, Solveig, Gudjonsson, Sigurjon A, Njølstad, Inger, Løchen, Maja-Lisa, Baum, Larry, Ma, Ronald C W, Sigfusson, Gunnlaugur, Kong, Augustine, Thorgeirsson, Guðmundur, Sverrisson, Jon Th, Thorsteinsdottir, Unnur, Stefansson, Kari, Arnar, David O
Published in European heart journal (01.01.2017)
Published in European heart journal (01.01.2017)
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Journal Article
A rare variant in MYH6 is associated with high risk of sick sinus syndrome
Holm, Hilma, Gudbjartsson, Daniel F, Sulem, Patrick, Masson, Gisli, Helgadottir, Hafdis Th, Zanon, Carlo, Magnusson, Olafur Th, Helgason, Agnar, Saemundsdottir, Jona, Gylfason, Arnaldur, Stefansdottir, Hrafnhildur, Gretarsdottir, Solveig, Matthiasson, Stefan E, Thorgeirsson, Gu∂mundur, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Stefansson, Hreinn, Werge, Thomas, Rafnar, Thorunn, Kiemeney, Lambertus A, Parvez, Babar, Muhammad, Raafia, Roden, Dan M, Darbar, Dawood, Thorleifsson, Gudmar, Walters, G Bragi, Kong, Augustine, Thorsteinsdottir, Unnur, Arnar, David O, Stefansson, Kari
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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Journal Article
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
Bjornsdottir, Gyda, Chalmer, Mona A., Stefansdottir, Lilja, Skuladottir, Astros Th, Einarsson, Gudmundur, Andresdottir, Margret, Beyter, Doruk, Ferkingstad, Egil, Gretarsdottir, Solveig, Halldorsson, Bjarni V., Halldorsson, Gisli H., Helgadottir, Anna, Helgason, Hannes, Hjorleifsson Eldjarn, Grimur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Jonsdottir, Ingileif, Knowlton, Kirk U., Nadauld, Lincoln D., Lund, Sigrun H., Magnusson, Olafur Th, Melsted, Pall, Moore, Kristjan H. S., Oddsson, Asmundur, Olason, Pall I., Sigurdsson, Asgeir, Stefansson, Olafur A., Saemundsdottir, Jona, Sveinbjornsson, Gardar, Tragante, Vinicius, Unnsteinsdottir, Unnur, Walters, G. Bragi, Zink, Florian, Rødevand, Linn, Andreassen, Ole A., Igland, Jannicke, Lie, Rolv T., Haavik, Jan, Banasik, Karina, Brunak, Søren, Didriksen, Maria, T. Bruun, Mie, Erikstrup, Christian, Kogelman, Lisette J. A., Nielsen, Kaspar R., Sørensen, Erik, Pedersen, Ole B., Ullum, Henrik, Masson, Gisli, Thorsteinsdottir, Unnur, Olesen, Jes, Ludvigsson, Petur, Thorarensen, Olafur, Bjornsdottir, Anna, Sigurdardottir, Gudrun R., Sveinsson, Olafur A., Ostrowski, Sisse R., Holm, Hilma, Gudbjartsson, Daniel F., Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Hreinn, Thorgeirsson, Thorgeir E., Hansen, Thomas F., Stefansson, Kari
Published in Nature genetics (01.11.2023)
Published in Nature genetics (01.11.2023)
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Journal Article
Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events
Helgason, Hannes, Eiriksdottir, Thjodbjorg, Ulfarsson, Magnus O, Choudhary, Abhishek, Lund, Sigrun H, Ivarsdottir, Erna V, Hjorleifsson Eldjarn, Grimur, Einarsson, Gudmundur, Ferkingstad, Egil, Moore, Kristjan H. S, Honarpour, Narimon, Liu, Thomas, Wang, Huei, Hucko, Thomas, Sabatine, Marc S, Morrow, David A, Giugliano, Robert P, Ostrowski, Sisse Rye, Pedersen, Ole Birger, Bundgaard, Henning, Erikstrup, Christian, Arnar, David O, Thorgeirsson, Gudmundur, Masson, Gísli, Magnusson, Olafur Th, Saemundsdottir, Jona, Gretarsdottir, Solveig, Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Helgadottir, Anna, Sulem, Patrick, Thorsteinsdottir, Unnur, Holm, Hilma, Gudbjartsson, Daniel, Stefansson, Kari
Published in JAMA : the journal of the American Medical Association (22.08.2023)
Published in JAMA : the journal of the American Medical Association (22.08.2023)
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Journal Article
New sequence variants associated with bone mineral density
Styrkarsdottir, Unnur, Stefansson, Kari, Halldorsson, Bjarni V, Gretarsdottir, Solveig, Gudbjartsson, Daniel F, Walters, G Bragi, Ingvarsson, Thorvaldur, Jonsdottir, Thorbjorg, Saemundsdottir, Jona, Snorradóttir, Steinunn, Center, Jacqueline R, Nguyen, Tuan V, Alexandersen, Peter, Gulcher, Jeffrey R, Eisman, John A, Christiansen, Claus, Sigurdsson, Gunnar, Kong, Augustine, Thorsteinsdottir, Unnur
Published in Nature genetics (01.01.2009)
Published in Nature genetics (01.01.2009)
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Journal Article
Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations
Eldjarn, Grimur Hjorleifsson, Ferkingstad, Egil, Lund, Sigrun H., Helgason, Hannes, Magnusson, Olafur Th, Gunnarsdottir, Kristbjorg, Olafsdottir, Thorunn A., Halldorsson, Bjarni V., Olason, Pall I., Zink, Florian, Gudjonsson, Sigurjon A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Gisli H., Magnusson, Magnus K., Saevarsdottir, Saedis, Eiriksdottir, Thjodbjorg, Masson, Gisli, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Thorleifsson, Gudmar, Ulfarsson, Magnus O., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Published in Nature (London) (06.06.2024)
Published in Nature (London) (06.06.2024)
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Journal Article
Histopathology and levels of proteins in plasma associate with survival after colorectal cancer diagnosis
Magnusson, Magnus I., Agnarsson, Bjarni A., Jonasson, Jon G., Tryggvason, Thordur, Aeffner, Famke, le Roux, Louise, Magnusdottir, Droplaug N., Gunnarsdottir, Helga S., Alexíusdóttir, Kristín K., Gunnarsdottir, Kristbjorg, Söebech, Emilia, Runarsdottir, Hjaltey, Jonsdottir, Erna M., Kristinsdottir, Bjarney S., Olafsson, Sigurgeir, Knutsdottir, Hildur, Thorsteinsdottir, Unnur, Ulfarsson, Magnus O., Gudbjartsson, Daniel F., Saemundsdottir, Jona, Magnusson, Olafur T., Norddahl, Gudmundur L., Watson, J. E. Vivienne, Rafnar, Thorunn, Lund, Sigrun H., Stefansson, Kari
Published in British journal of cancer (19.10.2023)
Published in British journal of cancer (19.10.2023)
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Journal Article
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency
Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Oskarsson, Gudjon R., Styrkarsdottir, Unnur, Moore, Kristjan H. S., Isberg, Salvor, Halldorsson, Gisli H., Sveinbjornsson, Gardar, Westergaard, David, Nielsen, Henriette Svarre, Fridriksdottir, Run, Jensson, Brynjar O., Arnadottir, Gudny A., Jonsson, Hakon, Sturluson, Arni, Snaebjarnarson, Audunn S., Andreassen, Ole A., Walters, G. Bragi, Nyegaard, Mette, Erikstrup, Christian, Steingrimsdottir, Thora, Lie, Rolv T., Melsted, Pall, Jonsdottir, Ingileif, Halldorsson, Bjarni V., Thorleifsson, Gudmar, Saemundsdottir, Jona, Magnusson, Olafur Th, Banasik, Karina, Sorensen, Erik, Masson, Gisli, Pedersen, Ole Birger, Tryggvadottir, Laufey, Haavik, Jan, Ostrowski, Sisse Rye, Stefansson, Hreinn, Holm, Hilma, Rafnar, Thorunn, Gudbjartsson, Daniel F., Sulem, Patrick, Stefansson, Kari
Published in Nature genetics (01.09.2024)
Published in Nature genetics (01.09.2024)
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Journal Article
Variant in the sequence of the LINGO1 gene confers risk of essential tremor
Stefansson, Kari, Stefansson, Hreinn, Steinberg, Stacy, Petursson, Hjorvar, Gustafsson, Omar, Gudjonsdottir, Iris H, Jonsdottir, Gudrun A, Palsson, Stefan T, Jonsson, Thorlakur, Saemundsdottir, Jona, Bjornsdottir, Gyda, Böttcher, Yvonne, Thorlacius, Theodora, Haubenberger, Dietrich, Zimprich, Alexander, Auff, Eduard, Hotzy, Christoph, Testa, Claudia M, Miyatake, Lisa A, Rosen, Ami R, Kristleifsson, Kristleifur, Rye, David, Asmus, Friedrich, Schöls, Ludger, Dichgans, Martin, Jakobsson, Finnbogi, Benedikz, John, Thorsteinsdottir, Unnur, Gulcher, Jeffrey, Kong, Augustine
Published in Nature genetics (01.03.2009)
Published in Nature genetics (01.03.2009)
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Journal Article
Identification of low-frequency variants associated with gout and serum uric acid levels
Sulem, Patrick, Stefansson, Kari, Gudbjartsson, Daniel F, Walters, G Bragi, Helgadottir, Hafdis T, Helgason, Agnar, Gudjonsson, Sigurjon A, Zanon, Carlo, Besenbacher, Soren, Bjornsdottir, Gyda, Magnusson, Olafur T, Magnusson, Gisli, Hjartarson, Eirikur, Saemundsdottir, Jona, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Holm, Hilma, Karason, Ari, Rafnar, Thorunn, Stefansson, Hreinn, Andreassen, Ole A, Pedersen, Jesper H, Pack, Allan I, de Visser, Marieke C H, Kiemeney, Lambertus A, Geirsson, Arni J, Eyjolfsson, Gudmundur I, Olafsson, Isleifur, Kong, Augustine, Masson, Gisli, Jonsson, Helgi, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif
Published in Nature genetics (01.11.2011)
Published in Nature genetics (01.11.2011)
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