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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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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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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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
Deb, Wallid, Rosenfelt, Cory, Vignard, Virginie, Papendorf, Jonas Johannes, Möller, Sophie, Wendlandt, Martin, Studencka-Turski, Maja, Cogné, Benjamin, Besnard, Thomas, Ruffier, Léa, Toutain, Bérénice, Poirier, Léa, Cuinat, Silvestre, Kritzer, Amy, Crunk, Amy, diMonda, Janette, Vengoechea, Jaime, Mercier, Sandra, Kleinendorst, Lotte, van Haelst, Mieke M., Zuurbier, Linda, Sulem, Telma, Katrínardóttir, Hildigunnur, Friðriksdóttir, Rún, Sulem, Patrick, Stefansson, Kari, Jonsdottir, Berglind, Zeidler, Shimriet, Sinnema, Margje, Stegmann, Alexander P.A., Naveh, Natali, Skraban, Cara M., Gray, Christopher, Murrell, Jill R., Isikay, Sedat, Pehlivan, Davut, Calame, Daniel G., Posey, Jennifer E., Nizon, Mathilde, McWalter, Kirsty, Lupski, James R., Isidor, Bertrand, Bolduc, François V., Bézieau, Stéphane, Krüger, Elke, Küry, Sébastien, Ebstein, Frédéric
Published in American journal of human genetics (11.07.2024)
Published in American journal of human genetics (11.07.2024)
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A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
Klemenzdottir, Elin Ola, Arnadottir, Gudny Anna, Jensson, Brynjar Orn, Jonasdottir, Adalbjorg, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudjonsson, Sigurjon Axel, Jonsson, Jon Johannes, Stefansdottir, Vigdis, Danielsen, Ragnar, Palsdottir, Astridur, Jonsson, Hakon, Helgason, Agnar, Magnusson, Olafur Thor, Thorsteinsdottir, Unnur, Bjornsson, Hans Tomas, Stefansson, Kari, Sulem, Patrick
Published in European journal of human genetics : EJHG (01.01.2024)
Published in European journal of human genetics : EJHG (01.01.2024)
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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
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
Genetic architecture of band neutrophil fraction in Iceland
Oskarsson, Gudjon R., Magnusson, Magnus K., Oddsson, Asmundur, Jensson, Brynjar O., Fridriksdottir, Run, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Rognvaldsson, Solvi, Halldorsson, Gisli H., Sveinbjornsson, Gardar, Ivarsdottir, Erna V., Stefansdottir, Lilja, Ferkingstad, Egil, Norland, Kristjan, Tragante, Vinicius, Saemundsdottir, Jona, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Sigurjonsdottir, Svanhvit, Petursdottir, Karen O., Davidsson, Olafur B., Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Vidarsson, Brynjar, Sigurdardottir, Olof, Masson, Gisli, Gudbjartsson, Daniel F., Jonsdottir, Ingileif, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Published in Communications biology (01.06.2022)
Published in Communications biology (01.06.2022)
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S113. Intraoperative recording of somatosensory evoked potentials from both peripheral median nerve and proximal upper trunk to assess C5, C6 brachial plexus injury
Banea, Ovidiu C., Ólafsson, Ingvar Hákon, Katrínardóttir, Hildigunnur, Skúlason, Halldór
Published in Clinical neurophysiology (01.05.2018)
Published in Clinical neurophysiology (01.05.2018)
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