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

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.

主动脉狭窄的基因组学和转录组学分析有助于发现治疗靶点和预测疾病。

Small Aeron M, Yang Ta-Yu, Itoh Shinsuke, Thériault Sébastien, Dufresne Line, Kurosawa Ryo, Komuro Issei, Matsuda Koichi, Vy Ha My T, Farber-Eger Eric H, Shaffer Lauren Lee, Boulier Kristin M, Corey Kristin M, Ramaker Megan E, Laporte Fabien, Schott Jean-Jacques, Le Scouarnec Solena, Singh Sasha A, Sonawane Abhijeet R, Smith Harry A, Rafaels Nicholas, Ghouse Jonas, Raja Anna A, Ostrowski Sisse R, Sørensen Erik, Mikkelsen Christina, Pedersen Ole B, Erikstrup Christian, Ullum Henrik, Sveinbjornsson Gardar, Gudbjartsson Daniel F, Abner Erik, Lee Jiwoo, Ganna Andrea, Nowak-Göttl Ulrike, Finer Sarah, Schumacher Johannes, Maj Carlo, Al-Kassou Baravan, Nickenig Georg, Trenkwalder Teresa, Dreβen Martina, Krane Markus, Nöthen Markus M, Moksnes Marta R, Brumpton Ben M, Knight Stacey, Knowlton Kirk U, Nadauld Lincoln, Debiec Radek, Musameh Muntaser D, Braund Peter S, Nelson Christopher P, Czuba Tomasz, Melander Olle, Selvaraj Margaret Sunitha, Koyama Satoshi, Bhukar Rohan, Ruan Yunfeng, Ljungberg Johan, Damrauer Scott M, Levin Michael G, Franke Andre, Berger Klaus, Ruff Christian T, Melloni Giorgio E M, Kamanu Frederick K, Ito Kaoru, Do Ron, Loos Ruth J F, Schunkert Heribert, Wells Quinn S, Shah Svati H, Le Tourneau Thierry, Messika-Zeitoun David, Gignoux Christopher, Bundgaard Henning, Larsson Susanna C, Michaëlsson Karl, Holm Hilma, Helgadottir Anna, Esko Tonu, van Heel David A, Mathieu Patrick, Samani Nilesh J, Smith J Gustav, Söderberg Stefan, Rader Daniel J, Marston Nicholas A, Sabatine Marc S, Pasaniuc Bogdan, Cho Kelly, Wilson Peter W F, O'Donnell Christopher J, Stefansson Kari, Bossé Yohan, Aikawa Elena, Engert James C, Peloso Gina M, Natarajan Pradeep, Thanassoulis George

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

Genome-wide meta-analysis identifies nine loci associated with higher risk of hepatocellular carcinoma development

全基因组荟萃分析确定了9个与肝细胞癌发生风险增加相关的基因位点。

Ghouse, Jonas; Gellert-Kristensen, Helene; O'Rourke, Colm J; Seidelin, Anne-Sofie; Thorleifsson, Gudmar; Sveinbjörnsson, Gardar; Tragante, Vinicius; Konkwo, Chigoziri; Brancale, Joseph; Vilarinho, Silvia; Eyrich, Tim M; Ahlberg, Gustav; Bundgaard, Johan S; Rand, Søren A; Lundegaard, Pia R; Sørensen, Erik; Mikkelsen, Christina; Træholt, Jacob; Erikstrup, Christian; Dinh, Khoa M; Bruun, Mie T; Jensen, Bitten Aa; Bay, Jakob T; Brunak, Søren; Banasik, Karina; Ullum, Henrik; Laisk, Triin; Mägi, Reedik; Nadauld, Lincoln D; Knowlton, Kirk U; Knight, Stacey; Gluud, Lise L; Vistisen, Kirsten; Björnsson, Einar S; Ulfarsson, Magnus O; Sulem, Patrick; Holm, Hilma; Pedersen, Ole B; Ostrowski, Sisse R; Gudbjartsson, Daniel F; Rafnar, Thorunn; Stefansson, Kari; Lassen, Ulrik; Pommergaard, Hans-Christian; Hillingsø, Jens G; Andersen, Jesper B; Bundgaard, Henning; Stender, Stefan

Clinical Evaluation of Cancer Signal Origin Prediction and Diagnostic Resolution following Multicancer Early Detection Testing in the PATHFINDER Study

PATHFINDER研究中多癌早期检测后癌症信号起源预测和诊断分辨率的临床评估

Marinac, Catherine R; McDonnell, Charles H 3rd; Nadauld, Lincoln D; Dilaveri, Christina A; Reid, Robert; Chung, Karen C; Lopatin, Margarita; Fung, Eric T; Schrag, Deborah; Shaknovich, Rita; Klein, Eric A

The genetic architecture of fibromyalgia across 2.5 million individuals

250万个体纤维肌痛的遗传结构

Kerrebijn, Isabel; Bjornsdottir, Gyda; Arbabi, Keon; Urpa, Lea; Haapaniemi, Hele; Thorleifsson, Gudmar; Stefansdottir, Lilja; Frangakis, Stephan; Valliere, Jesse; Kunorozva, Lovemore; Abner, Erik; Ji, Caleb; Aagaard, Bitten; Bliddal, Henning; Brunak, Søren; Bruun, Mie T; Didriksen, Maria; Erikstrup, Christian; Geirsson, Arni J; Gudbjartsson, Daniel F; Hansen, Thomas F; Jonsdottir, Ingileif; Knight, Stacey; Knowlton, Kirk U; Mikkelsen, Christina; Nadauld, Lincoln D; Olafsdottir, Thorunn A; Ostrowski, Sisse R; Pedersen, Ole Bv; Saevarsdottir, Saedis; Skuladottir, Astros T; Sørensen, Erik; Stefansson, Hreinn; Sulem, Patrick; Sveinsson, Olafur A; Thorlacius, Gudny E; Thorsteinsdottir, Unnur; Ullum, Henrik; Vikingsson, Arnor; Werge, Thomas M; Saxena, Richa; Stefansson, Kari; Brummett, Chad M; Glintborg, Bente; Clauw, Daniel J; Thorgeirsson, Thorgeir E; Williams, Frances Mk; Sinnott-Armstrong, Nasa; Ollila, Hanna M; Wainberg, Michael

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy

POPDC2基因的双等位基因变异会导致一种常染色体隐性遗传综合征,其特征为心脏传导缺陷和肥厚型心肌病。

Nicastro, Michele; Vermeer, Alexa M C; Postema, Pieter G; Tadros, Rafik; Bowling, Forrest Z; Aegisdottir, Hildur M; Tragante, Vinicius; Mach, Lukas; Postma, Alex V; Lodder, Elisabeth M; van Duijvenboden, Karel; Zwart, Rob; Beekman, Leander; Wu, Lingshuang; Jurgens, Sean J; van der Zwaag, Paul A; Alders, Mariëlle; Allouba, Mona; Aguib, Yasmine; Santome, J Luis; de Una, David; Monserrat, Lorenzo; Miranda, Antonio M A; Kanemaru, Kazumasa; Cranley, James; van Zeggeren, Ingeborg E; Aronica, Eleonora M A; Ripolone, Michela; Zanotti, Simona; Sveinbjornsson, Gardar; Ivarsdottir, Erna V; Hólm, Hilma; Guðbjartsson, Daníel F; Skúladóttir, Ástrós Th; Stefánsson, Kári; Nadauld, Lincoln; Knowlton, Kirk U; Ostrowski, Sisse Rye; Sørensen, Erik; Vesterager Pedersen, Ole Birger; Ghouse, Jonas; Rand, Søren A; Bundgaard, Henning; Ullum, Henrik; Erikstrup, Christian; Aagaard, Bitten; Bruun, Mie Topholm; Christiansen, Mette; Jensen, Henrik K; Carere, Deanna Alexis; Cummings, Christopher T; Fishler, Kristen; Tørring, Pernille Mathiesen; Brusgaard, Klaus; Juul, Trine Maxel; Saaby, Lotte; Winkel, Bo Gregers; Mogensen, Jens; Fortunato, Francesco; Comi, Giacomo Pietro; Ronchi, Dario; van Tintelen, J Peter; Noseda, Michela; Airola, Michael V; Christiaans, Imke; Wilde, Arthur A M; Wilders, Ronald; Clur, Sally-Ann; Verkerk, Arie O; Bezzina, Connie R; Lahrouchi, Najim

Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis

整合常见和罕见变异分析有助于深入了解肝硬化的遗传结构。

Ghouse, Jonas; Sveinbjörnsson, Gardar; Vujkovic, Marijana; Seidelin, Anne-Sofie; Gellert-Kristensen, Helene; Ahlberg, Gustav; Tragante, Vinicius; Rand, Søren A; Brancale, Joseph; Vilarinho, Silvia; Lundegaard, Pia Rengtved; Sørensen, Erik; Erikstrup, Christian; Bruun, Mie Topholm; Jensen, Bitten Aagaard; Brunak, Søren; Banasik, Karina; Ullum, Henrik; Verweij, Niek; Lotta, Luca; Baras, Aris; Mirshahi, Tooraj; Carey, David J; Kaplan, David E; Lynch, Julie; Morgan, Timothy; Schwantes-An, Tae-Hwi; Dochtermann, Daniel R; Pyarajan, Saiju; Tsao, Philip S; Laisk, Triin; Mägi, Reedik; Kozlitina, Julia; Tybjærg-Hansen, Anne; Jones, David; Knowlton, Kirk U; Nadauld, Lincoln; Ferkingstad, Egil; Björnsson, Einar S; Ulfarsson, Magnus O; Sturluson, Árni; Sulem, Patrick; Pedersen, Ole B; Ostrowski, Sisse R; Gudbjartsson, Daniel F; Stefansson, Kari; Olesen, Morten Salling; Chang, Kyong-Mi; Holm, Hilma; Bundgaard, Henning; Stender, Stefan

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease

LAG3基因起始密码子变异与LAG-3表达降低和自身免疫性甲状腺疾病风险增加相关。

Saedis Saevarsdottir ,Kristbjörg Bjarnadottir ,Thorsteinn Markusson ,Jonas Berglund ,Thorunn A Olafsdottir ,Gisli H Halldorsson ,Gudrun Rutsdottir ,Kristbjorg Gunnarsdottir ,Asgeir Orn Arnthorsson ,Sigrun H Lund ,Lilja Stefansdottir ,Julius Gudmundsson ,Ari J Johannesson ,Arni Sturluson ,Asmundur Oddsson ,Bjarni Halldorsson ,Björn R Ludviksson ,Egil Ferkingstad ,Erna V Ivarsdottir ,Gardar Sveinbjornsson ,Gerdur Grondal ,Gisli Masson ,Grimur Hjorleifsson Eldjarn ,Gudmundur A Thorisson ,Katla Kristjansdottir ,Kirk U Knowlton ,Kristjan H S Moore ,Sigurjon A Gudjonsson ,Solvi Rognvaldsson ,Stacey Knight ,Lincoln D Nadauld ,Hilma Holm ,Olafur T Magnusson ,Patrick Sulem ,Daniel F Gudbjartsson ,Thorunn Rafnar ,Gudmar Thorleifsson ,Pall Melsted ,Gudmundur L Norddahl ,Ingileif Jonsdottir ,Kari Stefansson

Variants at the Interleukin 1 Gene Locus and Pericarditis

白细胞介素 1 基因位点变异与心包炎

Thorolfsdottir, Rosa B; Jonsdottir, Andrea B; Sveinbjornsson, Gardar; Aegisdottir, Hildur M; Oddsson, Asmundur; Stefansson, Olafur A; Halldorsson, Gisli H; Saevarsdottir, Saedis; Thorleifsson, Gudmar; Stefansdottir, Lilja; Pedersen, Ole B; Sørensen, Erik; Ghouse, Jonas; Raja, Anna Axelsson; Zheng, Chaoqun; Silajdzija, Elvira; Rand, Søren Albertsen; Erikstrup, Christian; Ullum, Henrik; Mikkelsen, Christina; Banasik, Karina; Brunak, Søren; Ivarsdottir, Erna V; Sigurdsson, Asgeir; Beyter, Doruk; Sturluson, Arni; Einarsson, Hafsteinn; Tragante, Vinicius; Helgason, Hannes; Lund, Sigrun H; Halldorsson, Bjarni V; Sigurpalsdottir, Brynja D; Olafsson, Isleifur; Arnar, David O; Thorgeirsson, Gudmundur; Knowlton, Kirk U; Nadauld, Lincoln D; Gretarsdottir, Solveig; Helgadottir, Anna; Ostrowski, Sisse R; Gudbjartssson, Daniel F; Jonsdottir, Ingileif; Bundgaard, Henning; Holm, Hilma; Sulem, Patrick; Stefansson, Kari

Genome-Wide Association Study of Accessory Atrioventricular Pathways

全基因组关联研究发现房室旁路

Aegisdottir, Hildur M; Andreasen, Laura; Thorolfsdottir, Rosa B; Sveinbjornsson, Gardar; Jonsdottir, Andrea B; Stefansdottir, Lilja; Thorleifsson, Gudmar; Sigurdsson, Asgeir; Halldorsson, Gisli H; Barc, Julien; Simonet, Floriane; Tragante, Vinicius; Oddsson, Asmundur; Ferkingstad, Egil; Svendsen, Jesper Hastrup; Ghouse, Jonas; Ahlberg, Gustav; Paludan-Müller, Christian; Hadji-Turdeghal, Katra; Bustamante, Mariana; Ulfarsson, Magnus O; Helgadottir, Anna; Gretarsdottir, Solveig; Saevarsdottir, Saedis; Jonsdottir, Ingileif; Erikstrup, Christian; Ullum, Henrik; Sørensen, Erik; Brunak, Søren; Jøns, Christian; Zheng, Chaoqun; Bezzina, Connie R; Knowlton, Kirk U; Nadauld, Lincoln D; Sulem, Patrick; Ostrowski, Sisse R; Pedersen, Ole B; Arnar, David O; Gudbjartsson, Daniel F; Olesen, Morten S; Bundgaard, Henning; Holm, Hilma; Stefansson, Kari