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Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency CCDC201中终止增益变体的纯合性导致原发性卵巢功能不全 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 分享 收藏
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease LAG3的起始密码子变异与LAG-3表达降低和自身免疫性甲状腺疾病风险增加有关 Saevarsdottir, Saedis; Bjarnadottir, Kristbjorg; Markusson, Thorsteinn; Berglund, Jonas; Olafsdottir, Thorunn A.; Halldorsson, Gisli H.; Rutsdottir, Gudrun; Gunnarsdottir, Kristbjorg; Arnthorsson, Asgeir Orn; Lund, Sigrun H.; Stefansdottir, Lilja; Gudmundsson, Julius; Johannesson, Ari J.; Sturluson, Arni; Oddsson, Asmundur; Halldorsson, Bjarni; Ludviksson, Bjorn R.; Ferkingstad, Egil; Ivarsdottir, Erna V.; Sveinbjornsson, Gardar; Grondal, Gerdur; Masson, Gisli; Eldjarn, Grimur Hjorleifsson; Thorisson, Gudmundur A.; Kristjansdottir, Katla; Knowlton, Kirk U.; Moore, Kristjan H. S.; Gudjonsson, Sigurjon A.; Rognvaldsson, Solvi; Knight, Stacey; Nadauld, Lincoln D.; Holm, Hilma; Magnusson, Olafur T.; Sulem, Patrick; Gudbjartsson, Daniel F.; Rafnar, Thorunn; Thorleifsson, Gudmar; Melsted, Pall; Norddahl, Gudmundur L.; Jonsdottir, Ingileif; Stefansson, Kari 分享 收藏
A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes Sigurpalsdottir, Brynja D.; Stefansson, Olafur A.; Holley, Guillaume; Beyter, Doruk; Zink, Florian; Hardarson, Marteinn P.; Sverrisson, Sverrir P.; Kristinsdottir, Nina; Magnusdottir, Droplaug N.; Magnusson, Olafur P.; Gudbjartsson, Daniel F.; Halldorsson, Bjarni V.; Stefansson, Kari 分享 收藏
Actionable Genotypes and Their Association with Life Span in Iceland 冰岛的可操作基因型及其与寿命的关系 Jensson, B. O.; Arnadottir, G. A.; Katrinardottir, H.; Fridriksdottir, R.; Helgason, H.; Oddsson, A.; Sveinbjornsson, G.; Eggertsson, HP.; Halldorsson, G. H.; Atlason, B. A.; Jonsson, H.; Oskarsson, G. R.; Sturluson, A.; Gudjonsson, S. A.; Thorisson, G. A.; Zink, F.; Moore, K. H. S.; Palsson, G.; Sigurdsson, A.; Jonasdottir, A.; Jonasdottir, A.; Magnusson, M. K.; Helgadottir, A.; Steinthorsdottir, V; Gudmundsson, J.; Stacey, S. N.; Hilmarsson, R.; Olafsson, I; Johannsson, O. T.; Arnar, D. O.; Saemundsdottir, J.; Magnusson, O. T.; Masson, G.; Halldorsson, B. V.; Helgason, A.; Stefansson, H.; Jonsdottir, I; Holm, H.; Rafnar, T.; Thorsteinsdottir, U.; Gudbjartsson, D. F.; Stefansson, K.; Sulem, P. 分享 收藏
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura 具有较大影响的罕见变异为有或没有先兆的偏头痛亚型的病理学提供了功能性见解 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; Eldjarn, Grimur Hjorleifsson; 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; Rodevand, Linn; Andreassen, Ole A.; Igland, Jannicke; Lie, Rolv T.; Haavik, Jan; Banasik, Karina; Brunak, Soren; Didriksen, Maria; Bruun, Mie T.; Erikstrup, Christian; Kogelman, Lisette J. A.; Nielsen, Kaspar R.; Sorensen, 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 分享 收藏
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 分享 收藏
Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events 大规模蛋白质组学在心血管事件预测中的应用评价 Helgason, Hannes; Eiriksdottir, Thjodbjorg; Ulfarsson, Magnus O.; Choudhary, Abhishek; Lund, Sigrun H.; Ivarsdottir, Erna V.; Eldjarn, Grimur Hjorleifsson; 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, Gisli; Magnusson, Olafur Th.; Saemundsdottir, Jona; Gretarsdottir, Solveig; Steinthorsdottir, Valgerdur; Thorleifsson, Gudmar; Helgadottir, Anna; Sulem, Patrick; Thorsteinsdottir, Unnur; Holm, Hilma; Gudbjartsson, Daniel; Stefansson, Kari 分享 收藏
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.; Alexiusdottir, Kristin K.; Gunnarsdottir, Kristbjorg; Soeebech, 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 分享 收藏
Functional dissection of inherited non-coding variation influencing multiple myeloma risk (vol 13, 151, 2022) Ajore, Ram; Niroula, Abhishek; Pertesi, Maroulio; Cafaro, Caterina; Thodberg, Malte; Went, Molly; Bao, Erik L.; Duran-Lozano, Laura; Portilla, Aitzkoa Lopez de Lapuente; Olafsdottir, Thorunn; Ugidos-Damboriena, Nerea; Magnusson, Olafur; Samur, Mehmet; Lareau, Caleb A.; Halldorsson, Gisli H.; Thorleifsson, Gudmar; Norddahl, Gudmundur L.; Gunnarsdottir, Kristbjorg; Foersti, Asta; Goldschmidt, Hartmut; Hemminki, Kari; van Rhee, Frits; Kimber, Scott; Sperling, Adam S.; Kaiser, Martin; Anderson, Kenneth; Jonsdottir, Ingileif; Munshi, Nikhil; Rafnar, Thorunn; Waage, Anders; Weinhold, Niels; Thorsteinsdottir, Unnur; Sankaran, Vijay G.; Stefansson, Kari; Houlston, Richard; Nilsson, Bjoern 分享 收藏
The population genomic legacy of the second plague pandemic Gopalakrishnan, Shyam; Ebenesersdottir, S. Sunna; Lundstrom, Inge K. C.; Turner-Walker, Gordon; Moore, Kristjan H. S.; Luisi, Pierre; Margaryan, Ashot; Martin, Michael D.; Ellegaard, Martin Rene; Magnusson, Olafur P.; Sigurdsson, Asgeir; Snorradottir, Steinunn; Magnusdottir, Droplaug N.; Laffoon, Jason E.; van Dorp, Lucy; Liu, Xiaodong; Moltke, Ida; Avila-Arcos, Maria C.; Schraiber, Joshua G.; Rasmussen, Simon; Juan, David; Gelabert, Pere; de-Dios, Toni; Fotakis, Anna K.; Iraeta-Orbegozo, Miren; Vagene, Ashild J.; Denham, Sean Dexter; Christophersen, Axel; Stenoien, Hans K.; Vieira, Filipe G.; Liu, Shanlin; Guenther, Torsten; Kivisild, Toomas; Moseng, Ole Georg; Skar, Birgitte; Cheung, Christina; Sandoval-Velasco, Marcela; Wales, Nathan; Schroeder, Hannes; Campos, Paula F.; Gudmundsdottir, Valdis B.; Sicheritz-Ponten, Thomas; Peterson, Bent; Halgunset, Jostein; Gilbert, Edmund; Cavalleri, Gianpiero L.; Hovig, Eivind; Kockum, Ingrid; Olsson, Tomas; Alfredsson, Lars; Hansen, Thomas F.; Werge, Thomas; Willerslev, Eske; Balloux, Francois; Marques-Bonet, Tomas; Lalueza-Fox, Carles; Nielsen, Rasmus; Stefansson, Kari; Holgason, Agnar; Gilbert, M. Thomas P. 分享 收藏
Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland Norddahl, Gudmundur L.; Melsted, Pall; Gunnarsdottir, Kristbjorg; Halldorsson, Gisli H.; Olafsdottir, Thorunn A.; Gylfason, Arnaldur; Kristjansson, Mar; Magnusson, Olafur T.; Sulem, Patrick; Gudbjartsson, Daniel F.; Thorsteinsdottir, Unnur; Jonsdottir, Ingileif; Stefansson, Kari 分享 收藏
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 分享 收藏
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 分享 收藏
Functional dissection of inherited non-coding variation influencing multiple myeloma risk Ajore, Ram; Niroula, Abhishek; Pertesi, Maroulio; Cafaro, Caterina; Thodberg, Malte; Went, Molly; Bao, Erik L.; Duran-Lozano, Laura; de Lapuente Portilla, Aitzkoa Lopez; Olafsdottir, Thorunn; Ugidos-Damboriena, Nerea; Magnusson, Olafur; Samur, Mehmet; Lareau, Caleb A.; Halldorsson, Gisli H.; Thorleifsson, Gudmar; Norddahl, Gudmundur L.; Gunnarsdottir, Kristbjorg; Forsti, Asta; Goldschmidt, Hartmut; Hemminki, Kari; van Rhee, Frits; Kimber, Scott; Sperling, Adam S.; Kaiser, Martin; Anderson, Kenneth; Jonsdottir, Ingileif; Munshi, Nikhil; Rafnar, Thorunn; Waage, Anders; Weinhold, Niels; Thorsteinsdottir, Unnur; Sankaran, Vijay G.; Stefansson, Kari; Houlston, Richard; Nilsson, Bjorn 分享 收藏
Large-scale integration of the plasma proteome with genetics and disease 血浆蛋白质组与遗传和疾病的大规模整合 Ferkingstad, Egil; Sulem, Patrick; Atlason, Bjarni A.; Sveinbjornsson, Gardar; Magnusson, Magnus I.; Styrmisdottir, Edda L.; Gunnarsdottir, Kristbjorg; Helgason, Agnar; Oddsson, Asmundur; Halldorsson, Bjarni V.; Jensson, Brynjar O.; Zink, Florian; Halldorsson, Gisli H.; Masson, Gisli; Arnadottir, Gudny A.; Katrinardottir, Hildigunnur; Juliusson, Kristinn; Magnusson, Magnus K.; Magnusson, Olafur Th.; Fridriksdottir, Run; Saevarsdottir, Saedis; Gudjonsson, Sigurjon A.; Stacey, Simon N.; Rognvaldsson, Solvi; Eiriksdottir, Thjodbjorg; Olafsdottir, Thorunn A.; Steinthorsdottir, Valgerdur; Tragante, Vinicius; Ulfarsson, Magnus O.; Stefansson, Hreinn; Jonsdottir, Ingileif; Holm, Hilma; Rafnar, Thorunn; Melsted, Pall; Saemundsdottir, Jona; Norddahl, Gudmundur L.; Lund, Sigrun H.; Gudbjartsson, Daniel F.; Thorsteinsdottir, Unnur; Stefansson, Kari 分享 收藏
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 分享 收藏
Molecular benchmarks of a SARS-CoV-2 epidemic Jonsson, Hakon; Magnusson, Olafur T.; Melsted, Pall; Berglund, Jonas; Agustsdottir, Arna B.; Eiriksdottir, Berglind; Fridriksdottir, Run; Garoarsdottir, Elisabet Eir; Georgsson, Gudmundur; Gretarsdottir, Olafia S.; Guomundsson, Kjartan R.; Gunnarsdottir, Thora Rosa; Eggertsson, Hannes; Gylfason, Arnaldur; Holm, Hilma; Jensson, Brynjar O.; Jonasdottir, Aslaug; Jonsson, Frosti; Josefsdottir, Kamilla S.; Thordardottir, Marianna; Kristinsson, Karl G.; Kristjansson, Thorour; Magnusdottir, Droplaug N.; Le Roux, Louise; Saemundsdottir, Jona; Sigurdsson, Asgeir; Sigmundsdottir, Gudrun; Sveinbjornsson, Gardar; Rognvaldsson, Solvi; Eiriksson, Ogmundur; Magnusson, Magnus Karl; Sveinsdottir, Kristin Eva; Sveinsdottir, Maney; Thorarensen, Emil Aron; Thorbjornsson, Bjarni; Love, Arthur; Norddahl, Gudmundur L.; Jonsdottir, Ingileif; Sulem, Patrick; Masson, Gisli; Moller, Alma; Gudnason, Thorolfur; Kristjansson, Mar; Helgason, Agnar; Gudbjartsson, Daniel F.; Thorsteinsdottir, Unnur; Stefansson, Kari 分享 收藏
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits Beyter, Doruk; Ingimundardottir, Helga; Oddsson, Asmundur; Eggertsson, Hannes P.; Bjornsson, Eythor; Jonsson, Hakon; Atlason, Bjarni A.; Kristmundsdottir, Snaedis; Mehringer, Svenja; Hardarson, Marteinn T.; Gudjonsson, Sigurjon A.; Magnusdottir, Droplaug N.; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Kristjansson, Ragnar P.; Sverrisson, Sverrir T.; Holley, Guillaume; Palsson, Gunnar; Stefansson, Olafur A.; Eyjolfsson, Gudmundur; Olafsson, Isleifur; Sigurdardottir, Olof; Torfason, Bjarni; Masson, Gisli; Helgason, Agnar; Thorsteinsdottir, Unnur; Holm, Hilma; Gudbjartsson, Daniel F.; Sulem, Patrick; Magnusson, Olafur T.; Halldorsson, Bjarni, V; Stefansson, Kari 分享 收藏
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