Sequence variants affecting the genome-wide rate of germline microsatellite mutations
Kristmundsdottir, Snaedis, Jonsson, Hakon, Hardarson, Marteinn T., Palsson, Gunnar, Beyter, Doruk, Eggertsson, Hannes P., Gylfason, Arnaldur, Sveinbjornsson, Gardar, Holley, Guillaume, Stefansson, Olafur A., Halldorsson, Gisli H., Olafsson, Sigurgeir, Arnadottir, Gudny. A., Olason, Pall I., Eiriksson, Ogmundur, Masson, Gisli, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Sulem, Patrick, Helgason, Agnar, Gudbjartsson, Daniel F., Halldorsson, Bjarni V., Stefansson, Kari
Published in Nature communications (29.06.2023)
Published in Nature communications (29.06.2023)
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Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density
Ivarsdottir, Erna V., Benonisdottir, Stefania, Thorleifsson, Gudmar, Sulem, Patrick, Oddsson, Asmundur, Styrkarsdottir, Unnur, Kristmundsdottir, Snaedis, Arnadottir, Gudny A., Thorgeirsson, Gudmundur, Jonsdottir, Ingileif, Zoega, Gunnar M., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Jonasson, Fridbert, Holm, Hilma, Stefansson, Kari
Published in Nature communications (20.03.2019)
Published in Nature communications (20.03.2019)
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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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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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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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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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Parental influence on human germline de novo mutations in 1,548 trios from Iceland
Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Frigge, Mike, Stacey, Simon N., Th. Magnusson, Olafur, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Nature (London) (28.09.2017)
Published in Nature (London) (28.09.2017)
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Differences between germline genomes of monozygotic twins
Jonsson, Hakon, Magnusdottir, Erna, Eggertsson, Hannes P., Stefansson, Olafur A., Arnadottir, Gudny A., Eiriksson, Ogmundur, Zink, Florian, Helgason, Einar A., Jonsdottir, Ingileif, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Beyter, Doruk, Steingrimsdottir, Thora, Norddahl, Gudmundur L., Magnusson, Olafur Th, Masson, Gisli, Halldorsson, Bjarni V., Thorsteinsdottir, Unnur, Helgason, Agnar, Sulem, Patrick, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Nature genetics (01.01.2021)
Published in Nature genetics (01.01.2021)
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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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Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease
Helgadottir, Anna, Sulem, Patrick, Thorgeirsson, Gudmundur, Gretarsdottir, Solveig, Thorleifsson, Gudmar, Jensson, Brynjar Ö, Arnadottir, Gudny A, Olafsson, Isleifur, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Holm, Hilma, Stefansson, Kari
Published in European heart journal (14.06.2018)
Published in European heart journal (14.06.2018)
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A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis
Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th, Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, Stefansson, Kari
Published in Nature genetics (01.02.2019)
Published in Nature genetics (01.02.2019)
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Journal Article
popSTR2 enables clinical and population-scale genotyping of microsatellites
Kristmundsdottir, Snædis, Eggertsson, Hannes P, Arnadottir, Gudny A, Halldorsson, Bjarni V
Published in Bioinformatics (01.04.2020)
Published in Bioinformatics (01.04.2020)
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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
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
Complex effects of sequence variants on lipid levels and coronary artery disease
Snaebjarnarson, Audunn S., Helgadottir, Anna, Arnadottir, Gudny A., Ivarsdottir, Erna V., Thorleifsson, Gudmar, Ferkingstad, Egil, Einarsson, Gudmundur, Sveinbjornsson, Gardar, Thorgeirsson, Thorgeir E., Ulfarsson, Magnus O., Halldorsson, Bjarni V., Olafsson, Isleifur, Erikstrup, Christian, Pedersen, Ole B., Nyegaard, Mette, Bruun, Mie T., Ullum, Henrik, Brunak, Søren, Iversen, Kasper Karmark, Christensen, Alex Hoerby, Olesen, Morten S., Ghouse, Jonas, Banasik, Karina, Knowlton, Kirk U., Arnar, David O., Thorgeirsson, Gudmundur, Nadauld, Lincoln, Ostrowski, Sisse Rye, Bundgaard, Henning, Holm, Hilma, Sulem, Patrick, Stefansson, Kari, Gudbjartsson, Daniel F.
Published in Cell (14.09.2023)
Published in Cell (14.09.2023)
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Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination
Steinthorsdottir, Valgerdur, Halldorsson, Bjarni V., Jonsson, Hakon, Palsson, Gunnar, Oddsson, Asmundur, Westergaard, David, Arnadottir, Gudny A., Stefansdottir, Lilja, Banasik, Karina, Esplin, M. Sean, Hansen, Thomas Folkmann, Brunak, Søren, Nyegaard, Mette, Ostrowski, Sisse Rye, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Thorleifsson, Gudmar, Nadauld, Lincoln D., Haraldsson, Asgeir, Steingrimsdottir, Thora, Tryggvadottir, Laufey, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., Hoffmann, Eva R., Sulem, Patrick, Holm, Hilma, Nielsen, Henriette Svarre, Stefansson, Kari
Published in Nature structural & molecular biology (01.04.2024)
Published in Nature structural & molecular biology (01.04.2024)
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Journal Article
Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming
Gisladottir, Rosa S., Ivarsdottir, Erna V., Helgason, Agnar, Jonsson, Lina, Hannesdottir, Nanna K., Rutsdottir, Gudrun, Arnadottir, Gudny A., Skuladottir, Astros, Jonsson, Benedikt A., Norddahl, Gudmundur L., Ulfarsson, Magnus O., Helgason, Hannes, Halldorsson, Bjarni V., Nawaz, Muhammad S., Tragante, Vinicius, Sveinbjornsson, Gardar, Thorgeirsson, Thorgeir, Oddsson, Asmundur, Kristjansson, Ragnar P., Bjornsdottir, Gyda, Thorgeirsson, Gudmundur, Jonsdottir, Ingileif, Holm, Hilma, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Stefansson, Hreinn, Sulem, Patrick, Stefansson, Kari
Published in Current biology (07.12.2020)
Published in Current biology (07.12.2020)
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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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