Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase
Kristjansson, Ragnar P., Oddsson, Asmundur, Helgason, Hannes, Sveinbjornsson, Gardar, Arnadottir, Gudny A., Jensson, Brynjar O., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Bragi Walters, G., Sulem, Gerald, Oskarsdottir, Arna, Benonisdottir, Stefania, Davidsson, Olafur B., Masson, Gisli, Th Magnusson, Olafur, Holm, Hilma, Sigurdardottir, Olof, Jonsdottir, Ingileif, Eyjolfsson, Gudmundur I., Olafsson, Isleifur, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Published in Nature communications (03.02.2016)
Published in Nature communications (03.02.2016)
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Journal Article
Epigenetic and genetic components of height regulation
Benonisdottir, Stefania, Oddsson, Asmundur, Helgason, Agnar, Kristjansson, Ragnar P., Sveinbjornsson, Gardar, Oskarsdottir, Arna, Thorleifsson, Gudmar, Davidsson, Olafur B., Arnadottir, Gudny A., Sulem, Gerald, Jensson, Brynjar O., Holm, Hilma, Alexandersson, Kristjan F., Tryggvadottir, Laufey, Walters, G. Bragi, Gudjonsson, Sigurjon A., Ward, Lucas D., Sigurdsson, Jon K., Iordache, Paul D., Frigge, Michael L., Rafnar, Thorunn, Kong, Augustine, Masson, Gisli, Helgason, Hannes, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, Stefansson, Kari
Published in Nature communications (16.11.2016)
Published in Nature communications (16.11.2016)
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Journal Article
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
Runolfsdottir, Hrafnhildur L, Sayer, John A, Indridason, Olafur S, Edvardsson, Vidar O, Jensson, Brynjar O, Arnadottir, Gudny A, Gudjonsson, Sigurjon A, Fridriksdottir, Run, Katrinardottir, Hildigunnur, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Palsson, Runolfur
Published in European journal of human genetics : EJHG (01.07.2021)
Published in European journal of human genetics : EJHG (01.07.2021)
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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
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
Jensson, Brynjar O, Hansdottir, Sif, Arnadottir, Gudny A, Sulem, Gerald, Kristjansson, Ragnar P, Oddsson, Asmundur, Benonisdottir, Stefania, Jonsson, Hakon, Helgason, Agnar, Saemundsdottir, Jona, Magnusson, Olafur T, Masson, Gisli, Thorisson, Gudmundur A, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon R, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, Stefansson, Kari
Published in BMC medical genetics (14.11.2017)
Published in BMC medical genetics (14.11.2017)
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Journal Article
Factor B Mutation in Monozygotic Twins Discordant for Atypical Hemolytic Uremic Syndrome
Aradottir, Sigridur Sunna, Kristoffersson, Ann-Charlotte, Jensson, Brynjar O., Sulem, Patrick, Gong, Henning, Palsson, Runolfur, Karpman, Diana
Published in Kidney international reports (01.05.2023)
Published in Kidney international reports (01.05.2023)
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Journal Article
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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Journal Article
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland
Sveinbjornsson, Gardar, Benediktsdottir, Bara D, Sigfusson, Gunnlaugur, Norland, Kristjan, Davidsson, Olafur B, Thorolfsdottir, Rosa B, Tragante, Vinicius, Arnadottir, Gudny A, Jensson, Brynjar O, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Gudmundsdottir, Hallbera, Aegisdottir, Hildur M, Fridriksson, Brynjar, Thorgeirsson, Gudmundur, Magnusson, Vidar, Oddsson, Asmundur, Sulem, Patrick, Gudbjartsson, Daniel F, Holm, Hilma, Arnar, David O, Stefansson, Kari
Published in Journal of the American Heart Association (18.07.2023)
Published in Journal of the American Heart Association (18.07.2023)
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Journal Article
Actionable Genotypes and Life Span in Iceland. Reply
Jensson, Brynjar O, Stefansson, Kari, Sulem, Patrick
Published in The New England journal of medicine (07.03.2024)
Published in The New England journal of medicine (07.03.2024)
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Journal Article
Sequence variant at 4q25 near PITX2 associates with appendicitis
Kristjansson, Ragnar P., Benonisdottir, Stefania, Oddsson, Asmundur, Galesloot, Tessel E., Thorleifsson, Gudmar, Aben, Katja K., Davidsson, Olafur B., Jonsson, Stefan, Arnadottir, Gudny A., Jensson, Brynjar O., Walters, G. Bragi, Sigurdsson, Jon K., Sigurdsson, Snaevar, Holm, Hilma, Arnar, David O., Thorgeirsson, Gudmundur, Alexiusdottir, Kristin, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Kiemeney, Lambertus A., Jonsson, Thorvaldur, Gudbjartsson, Daniel F., Rafnar, Thorunn, Sulem, Patrick, Stefansson, Kari
Published in Scientific reports (08.06.2017)
Published in Scientific reports (08.06.2017)
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Journal Article
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F. H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A. J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E. H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L. M., Willemsen, Michèl A., Lefeber, Dirk J., Karnebeek, Clara D. M. van
Published in Frontiers in neurology (07.06.2021)
Published in Frontiers in neurology (07.06.2021)
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Journal Article
Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease
Skuladottir, Astros Th, Tragante, Vinicius, Sveinbjornsson, Gardar, Helgason, Hannes, Sturluson, Arni, Bjornsdottir, Anna, Jonsson, Palmi, Palmadottir, Vala, Sveinsson, Olafur A., Jensson, Brynjar O., Gudjonsson, Sigurjon A., Ivarsdottir, Erna V., Gisladottir, Rosa S., Gunnarsson, Arni F., Walters, G. Bragi, Jonsdottir, Gudrun A., Thorgeirsson, Thorgeir E., Bjornsdottir, Gyda, Holm, Hilma, Gudbjartsson, Daniel F., Sulem, Patrick, Stefansson, Hreinn, Stefansson, Kari
Published in NPJ Parkinson's Disease (15.08.2024)
Published in NPJ Parkinson's Disease (15.08.2024)
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Journal Article
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
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease
Ferkingstad, Egil, Oddsson, Asmundur, Gretarsdottir, Solveig, Benonisdottir, Stefania, Thorleifsson, Gudmar, Deaton, Aimee M., Jonsson, Stefan, Stefansson, Olafur A., Norddahl, Gudmundur L., Zink, Florian, Arnadottir, Gudny A., Gunnarsson, Bjarni, Halldorsson, Gisli H., Helgadottir, Anna, Jensson, Brynjar O., Kristjansson, Ragnar P., Sveinbjornsson, Gardar, Sverrisson, David A., Masson, Gisli, Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Holm, Hilma, Jonsdottir, Ingileif, Olafsson, Sigurdur, Steingrimsdottir, Thora, Rafnar, Thorunn, Bjornsson, Einar S., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, Stefansson, Kari
Published in Nature communications (30.11.2018)
Published in Nature communications (30.11.2018)
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Journal Article
Multiple transmissions of de novo mutations in families
Jónsson, Hákon, Sulem, Patrick, Arnadottir, Gudny A., Pálsson, Gunnar, Eggertsson, Hannes P., Kristmundsdottir, Snaedis, Zink, Florian, Kehr, Birte, Hjorleifsson, Kristjan E., Jensson, Brynjar Ö., Jonsdottir, Ingileif, Marelsson, Sigurdur Einar, Gudjonsson, Sigurjon Axel, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Stacey, Simon N., Magnusson, Olafur Th, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Nature genetics (01.12.2018)
Published in Nature genetics (01.12.2018)
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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
Sequence variants associating with urinary biomarkers
Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, Asselbergs, Folkert W, Hreidarsson, Astradur B, Rafnar, Thorunn, Thorleifsson, Gudmar, Edvardsson, Vidar, Sigurdsson, Gunnar, Helgadottir, Anna, Halldorsson, Bjarni V, Masson, Gisli, Holm, Hilma, Onundarson, Pall T, Indridason, Olafur S, Benediktsson, Rafn, Palsson, Runolfur, Gudbjartsson, Daniel F, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Published in Human molecular genetics (01.04.2019)
Published in Human molecular genetics (01.04.2019)
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Journal Article
Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies
Hjorleifsson, Kristjan E., Rognvaldsson, Solvi, Jonsson, Hakon, Agustsdottir, Arna B., Andresdottir, Margret, Birgisdottir, Kolbrun, Eiriksson, Ogmundur, Eythorsson, Elias S., Fridriksdottir, Run, Georgsson, Gudmundur, Gudmundsson, Kjartan R., Gylfason, Arnaldur, Haraldsdottir, Gudbjorg, Jensson, Brynjar O., Jonasdotti, Adalbjorg, Jonasdottir, Aslaug, Josefsdottir, Kamilla S., Kristinsdottir, Nina, Kristjansdottir, Borghildur, Kristjansson, Thordur, Magnusdottir, Droplaug N., Palsson, Runolfur, le Roux, Louise, Sigurbergsdottir, Gudrun M., Sigurdsson, Asgeir, Sigurdsson, Martin I., Sveinbjornsson, Gardar, Thorarensen, Emil Aron, Thorbjornsson, Bjarni, Thordardottir, Marianna, Helgason, Agnar, Holm, Hilma, Jonsdottir, Ingileif, Jonsson, Frosti, Magnusson, Olafur T., Masson, Gisli, Norddahl, Gudmundur L., Saemundsdottir, Jona, Sulem, Patrick, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Melsted, Pall, Stefansson, Kari
Published in Clinical microbiology and infection (01.06.2022)
Published in Clinical microbiology and infection (01.06.2022)
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Journal Article
Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria
Kristjansson, Ragnar P., Oskarsson, Gudjon R., Skuladottir, Astros, Oddsson, Asmundur, Rognvaldsson, Solvi, Sveinbjornsson, Gardar, Lund, Sigrun H., Jensson, Brynjar O., Styrmisdottir, Edda L., Halldorsson, Gisli H., Ferkingstad, Egil, Eldjarn, Grimur Hjorleifsson, Beyter, Doruk, Kristmundsdottir, Snædis, Juliusson, Kristinn, Fridriksdottir, Run, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Snorradottir, Margret H., Tragante, Vinicius, Stefansdottir, Lilja, Ivarsdottir, Erna V., Bjornsdottir, Gyda, Halldorsson, Bjarni V., Thorleifsson, Gudmar, Ludviksson, Bjorn R., Onundarson, Pall T., Saevarsdottir, Saedis, Melsted, Pall, Norddahl, Gudmundur L., Bjornsdottir, Unnur S., Olafsdottir, Thorunn, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, Stefansson, Kari
Published in Communications biology (10.07.2023)
Published in Communications biology (10.07.2023)
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Journal Article
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death
Sveinbjornsson, Gardar, Olafsdottir, Eva F, Thorolfsdottir, Rosa B, Davidsson, Olafur B, Helgadottir, Anna, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Bjornsson, Eythor, Jensson, Brynjar O, Arnadottir, Gudny A, Kristinsdottir, Hallfridur, Stephensen, Sigurdur S, Oskarsson, Gylfi, Gudbjartsson, Tomas, Sigurdsson, Emil L, Andersen, Karl, Danielsen, Ragnar, Arnar, David O, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Sulem, Patrick, Thorgeirsson, Gudmundur, Gudbjartsson, Daniel F, Holm, Hilma, Stefansson, Kari
Published in Circulation. Genomic and precision medicine (01.08.2018)
Published in Circulation. Genomic and precision medicine (01.08.2018)
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