日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Complete human recombination maps

完整的人类重组图谱

Palsson, Gunnar; Hardarson, Marteinn T; Jonsson, Hakon; Steinthorsdottir, Valgerdur; Stefansson, Olafur A; Eggertsson, Hannes P; Gudjonsson, Sigurjon A; Olason, Pall I; Gylfason, Arnaldur; Masson, Gisli; Thorsteinsdottir, Unnur; Sulem, Patrick; Helgason, Agnar; Gudbjartsson, Daniel F; Halldorsson, Bjarni V; Stefansson, Kari

Sequence diversity lost in early pregnancy

妊娠早期序列多样性丧失

Arnadottir, Gudny A; Jonsson, Hakon; Hartwig, Tanja Schlaikjær; Gruhn, Jennifer R; Møller, Peter Loof; Gylfason, Arnaldur; Westergaard, David; Chan, Andrew Chi-Ho; Oddsson, Asmundur; Stefansdottir, Lilja; Roux, Louise le; Steinthorsdottir, Valgerdur; Swerford Moore, Kristjan H; Olafsson, Sigurgeir; Olason, Pall I; Eggertsson, Hannes P; Halldórsson, Gísli H; Walters, G Bragi; Stefansson, Hreinn; Gudjonsson, Sigurjon A; Palsson, Gunnar; Jensson, Brynjar O; Fridriksdottir, Run; Petersen, Jesper Friis; Helgason, Agnar; Norddahl, Gudmundur L; Rohde, Palle Duun; Saemundsdottir, Jona; Magnusson, Olafur Th; Halldorsson, Bjarni V; Bliddal, Sofie; Banasik, Karina; Gudbjartsson, Daniel F; Nyegaard, Mette; Sulem, Patrick; Thorsteinsdottir, Unnur; Hoffmann, Eva R; Nielsen, Henriette Svarre; Stefansson, Kari

African-ancestry-specific variant IKKβ p.Glu502Lys confers high lupus risk

非洲裔特有的IKKβ p.Glu502Lys变异体与较高的狼疮风险相关

Thorlacius, Gudny Ella; Ivarsdottir, Erna V; Saevarsdottir, Saedis; Moore, Kristjan H S; Gudjonsson, Sigurjon A; Halldorsson, Bjarni V; Holm, Hilma; Jonasdottir, Aslaug; Jonsson, Frosti; Kristmundsdottir, Snaedis; Masson, Gisli; Magnusson, Olafur T; Norddahl, Gudmundur L; Oddsson, Asmundur; Olafsdottir, Thorunn A; Olason, Pall I; Skaftason, Aron; Stefansdottir, Lilja; Sturluson, Arni; Thorsteinsdottir, Unnur; Thorleifsson, Gudmar; Walker, Valentin Y; Zink, Florian; Steingrimsson, Eirikur; Gudbjartsson, Daniel F; Jonsdottir, Ingileif; Helgason, Agnar; Sulem, Patrick; Stefansson, Kari

Missense variants in FRS3 affect body mass index in populations of diverse ancestries

FRS3基因的错义变异会影响不同种族人群的体重指数。

Jonsdottir, Andrea B; Sveinbjornsson, Gardar; Thorolfsdottir, Rosa B; Tamlander, Max; Tragante, Vinicius; Olafsdottir, Thorhildur; Rognvaldsson, Solvi; Sigurdsson, Asgeir; Eggertsson, Hannes P; Aegisdottir, Hildur M; Arnar, David O; Banasik, Karina; Beyter, Doruk; Bjarnason, Ragnar G; Bjornsdottir, Gyda; Brunak, Søren; Topholm Bruun, Mie; Dowsett, Joseph; Einarsson, Eythor; Einarsson, Gudmundur; Erikstrup, Christian; Fridriksdottir, Run; Ghouse, Jonas; Gretarsdottir, Solveig; Halldorsson, Gisli H; Hansen, Torben; Helgadottir, Anna; Holm, Peter C; Ivarsdottir, Erna V; Iversen, Kasper Karmark; Jensen, Bitten Aagaard; Jonsdottir, Ingileif; Knight, Stacey; Knowlton, Kirk U; Kristmundsdottir, Snaedis; Larusdottir, Adalheidur E; Magnusson, Olafur Th; Masson, Gisli; Melsted, Pall; Mikkelsen, Christina; Moore, Kristjan H S; Oddsson, Asmundur; Olason, Pall I; Palsson, Frosti; Pedersen, Ole Birger; Schwinn, Michael; Sigurdsson, Emil L; Skaftason, Aron; Stefansdottir, Lilja; Stefansson, Hreinn; Steingrimsdottir, Thora; Sturluson, Arni; Styrkarsdottir, Unnur; Sørensen, Erik; Teitsdottir, Unnur D; Thorgeirsson, Thorgeir E; Thorisson, Gudmundur A; Thorsteinsdottir, Unnur; Ulfarsson, Magnus O; Ullum, Henrik; Vikingsson, Arnor; Walters, G Bragi; Nadauld, Lincoln D; Bundgaard, Henning; Ostrowski, Sisse Rye; Helgason, Agnar; Halldorsson, Bjarni V; Norddahl, Gudmundur L; Ripatti, Samuli; Gudbjartsson, Daniel F; Thorleifsson, Gudmar; Steinthorsdottir, Valgerdur; Holm, Hilma; Sulem, Patrick; Stefansson, Kari

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

雄激素介导皮拉罗夫斯基-比约恩松综合征的性二态性

Anderson Kimberley Jade, Thorolfsdottir Eirny Tholl, Nodelman Ilana M, Halldorsdottir Sara Tholl, Benonisdottir Stefania, Alghamdi Malak, Almontashiri Naif, Barry Brenda J, Begemann Matthias, Britton Jacquelyn F, Burke Sarah, Cogne Benjamin, Cohen Ana S A, de Diego Boguñá Carles, Eichler Evan E, Engle Elizabeth C, Fahrner Jill A, Faivre Laurence, Fradin Mélanie, Fuhrmann Nico, Gao Christine W, Garg Gunjan, Grečmalová Dagmar, Grippa Mina, Harris Jacqueline R, Hoekzema Kendra, Hershkovitz Tova, Hubbard Sydney, Janssens Katrien, Jurgens Julie A, Kmoch Stanislav, Knopp Cordula, Koptagel Meral Aktas, Ladha Farah A, Lapunzina Pablo, Lindau Tobias, Meuwissen Marije, Minicucci Andreina, Neuhaus Emily, Nizon Mathilde, Nosková Lenka, Park Kristen, Patel Chirag, Pfundt Rolph, Prasun Pankaj, Rahner Nils, Robin Nathaniel H, Ronspies Carey, Roohi Jasmin, Rosenfeld Jill, Saenz Margarita, Saunders Carol, Stark Zornitza, Thiffault Isabelle, Thull Sarah, Velasco Danita, Velmans Clara, Verseput Jolijn, Vitobello Antonio, Wang Tianyun, Weiss Karin, Wentzensen Ingrid M, Pilarowski Genay, Eysteinsson Thor, Gillentine Madelyn, Stefánsson Kári, Helgason Agnar, Bowman Gregory D, Bjornsson Hans Tomas

Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations

作者更正:通过遗传学和疾病关联进行大规模血浆蛋白质组学比较

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

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

一项基于冰岛人群的FBN1基因变异调查显示,马凡综合征存在漏诊现象。

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

Corroborating written history with ancient DNA: The case of the Well-man described in an Old Norse saga

以古代DNA佐证文字记载的历史:古挪威萨迦中描述的井人案例

Ellegaard, Martin R; Ebenesersdóttir, S Sunna; Moore, Kristjan H S; Petersén, Anna; Vågene, Åshild J; Bieker, Vanessa C; Denham, Sean D; Cavalleri, Gianpiero L; Gilbert, Edmund; Werge, Thomas; Hansen, Thomas F; Kockum, Ingrid; Alfredsson, Lars; Olsson, Tomas; Hovig, Eivind; Gilbert, M Thomas P; Stefánsson, Kári; Stenøien, Hans K; Helgason, Agnar; Martin, Michael D

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

突变条形码定义的克隆性造血的遗传学和流行病学

Stacey, Simon N; Zink, Florian; Halldorsson, Gisli H; Stefansdottir, Lilja; Gudjonsson, Sigurjon A; Einarsson, Gudmundur; Hjörleifsson, Grimur; Eiriksdottir, Thjodbjorg; Helgadottir, Anna; Björnsdottir, Gyda; Thorgeirsson, Thorgeir E; Olafsdottir, Thorunn A; Jonsdottir, Ingileif; Gretarsdottir, Solveig; Tragante, Vinicius; Magnusson, Magnus K; Jonsson, Hakon; Gudmundsson, Julius; Olafsson, Sigurgeir; Holm, Hilma; Gudbjartsson, Daniel F; Sulem, Patrick; Helgason, Agnar; Thorsteinsdottir, Unnur; Tryggvadottir, Laufey; Rafnar, Thorunn; Melsted, Pall; Ulfarsson, Magnus Ö; Vidarsson, Brynjar; Thorleifsson, Gudmar; Stefansson, Kari

Characterizing the evolution and phenotypic impact of ampliconic Y chromosome regions

表征Y染色体扩增区域的演化及其表型影响

Lucotte, Elise A; Guðmundsdóttir, Valdís Björt; Jensen, Jacob M; Skov, Laurits; Macià, Moisès Coll; Almstrup, Kristian; Schierup, Mikkel H; Helgason, Agnar; Stefansson, Kari