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

Translational genomics of osteoarthritis in 1,962,069 individuals

对 1,962,069 名个体进行骨关节炎转化基因组学研究

Hatzikotoulas, Konstantinos; Southam, Lorraine; Stefansdottir, Lilja; Boer, Cindy G; McDonald, Merry-Lynn; Pett, J Patrick; Park, Young-Chan; Tuerlings, Margo; Mulders, Rick; Barysenka, Andrei; Arruda, Ana Luiza; Tragante, Vinicius; Rocco, Alison; Bittner, Norbert; Chen, Shibo; Horn, Susanne; Srinivasasainagendra, Vinodh; To, Ken; Katsoula, Georgia; Kreitmaier, Peter; Tenghe, Amabel M M; Gilly, Arthur; Arbeeva, Liubov; Chen, Lane G; de Pins, Agathe M; Dochtermann, Daniel; Henkel, Cecilie; Höijer, Jonas; Ito, Shuji; Lind, Penelope A; Lukusa-Sawalena, Bitota; Minn, Aye Ko Ko; Mola-Caminal, Marina; Narita, Akira; Nguyen, Chelsea; Reimann, Ene; Silberstein, Micah D; Skogholt, Anne-Heidi; Tiwari, Hemant K; Yau, Michelle S; Yue, Ming; Zhao, Wei; Zhou, Jin J; Alexiadis, George; Banasik, Karina; Brunak, Søren; Campbell, Archie; Cheung, Jackson T S; Dowsett, Joseph; Faquih, Tariq; Faul, Jessica D; Fei, Lijiang; Fenstad, Anne Marie; Funayama, Takamitsu; Gabrielsen, Maiken E; Gocho, Chinatsu; Gromov, Kirill; Hansen, Thomas; Hudjashov, Georgi; Ingvarsson, Thorvaldur; Johnson, Jessica S; Jonsson, Helgi; Kakehi, Saori; Karjalainen, Juha; Kasbohm, Elisa; Lemmelä, Susanna; Lin, Kuang; Liu, Xiaoxi; Loef, Marieke; Mangino, Massimo; McCartney, Daniel; Millwood, Iona Y; Richman, Joshua; Roberts, Mary B; Ryan, Kathleen A; Samartzis, Dino; Shivakumar, Manu; Skou, Søren T; Sugimoto, Sachiyo; Suzuki, Ken; Takuwa, Hiroshi; Teder-Laving, Maris; Thomas, Laurent; Tomizuka, Kohei; Turman, Constance; Weiss, Stefan; Wu, Tian T; Zengini, Eleni; Zhang, Yanfei; Ferreira, Manuel Allen Revez; Babis, George; Baras, Aris; Barker, Tyler; Carey, David J; Cheah, Kathryn S E; Chen, Zhengming; Cheung, Jason Pui-Yin; Daly, Mark; de Mutsert, Renée; Eaton, Charles B; Erikstrup, Christian; Furnes, Ove Nord; Golightly, Yvonne M; Gudbjartsson, Daniel F; Hailer, Nils P; Hayward, Caroline; Hochberg, Marc C; Homuth, Georg; Huckins, Laura M; Hveem, Kristian; Ikegawa, Shiro; Ishijima, Muneaki; Isomura, Minoru; Jones, Marcus; Kang, Jae H; Kardia, Sharon L R; Kloppenburg, Margreet; Kraft, Peter; Kumahashi, Nobuyuki; Kuwata, Suguru; Lee, Ming Ta Michael; Lee, Phil H; Lerner, Robin; Li, Liming; Lietman, Steve A; Lotta, Luca; Lupton, Michelle K; Mägi, Reedik; Martin, Nicholas G; McAlindon, Timothy E; Medland, Sarah E; Michaëlsson, Karl; Mitchell, Braxton D; Mook-Kanamori, Dennis O; Morris, Andrew P; Nabika, Toru; Nagami, Fuji; Nelson, Amanda E; Ostrowski, Sisse Rye; Palotie, Aarno; Pedersen, Ole Birger; Rosendaal, Frits R; Sakurai-Yageta, Mika; Schmidt, Carsten Oliver; Sham, Pak Chung; Singh, Jasvinder A; Smelser, Diane T; Smith, Jennifer A; Song, You-Qiang; Sørensen, Erik; Tamiya, Gen; Tamura, Yoshifumi; Terao, Chikashi; Thorleifsson, Gudmar; Troelsen, Anders; Tsezou, Aspasia; Uchio, Yuji; Uitterlinden, A G; Ullum, Henrik; Valdes, Ana M; van Heel, David A; Walters, Robin G; Weir, David R; Wilkinson, J Mark; Winsvold, Bendik S; Yamamoto, Masayuki; Zwart, John-Anker; Stefansson, Kari; Meulenbelt, Ingrid; Teichmann, Sarah A; van Meurs, Joyce B J; Styrkarsdottir, Unnur; Zeggini, Eleftheria

Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes

全基因组关联研究荟萃分析为心力衰竭及其亚型的病因学提供了新的见解

Henry, Albert; Mo, Xiaodong; Finan, Chris; Chaffin, Mark D; Speed, Doug; Issa, Hanane; Denaxas, Spiros; Ware, James S; Zheng, Sean L; Malarstig, Anders; Gratton, Jasmine; Bond, Isabelle; Roselli, Carolina; Miller, David; Chopade, Sandesh; Schmidt, A Floriaan; Abner, Erik; Adams, Lance; Andersson, Charlotte; Aragam, Krishna G; Ärnlöv, Johan; Asselin, Geraldine; Raja, Anna Axelsson; Backman, Joshua D; Bartz, Traci M; Biddinger, Kiran J; Biggs, Mary L; Bloom, Heather L; Boersma, Eric; Brandimarto, Jeffrey; Brown, Michael R; Brunak, Søren; Bruun, Mie Topholm; Buckbinder, Leonard; Bundgaard, Henning; Carey, David J; Chasman, Daniel I; Chen, Xing; Cook, James P; Czuba, Tomasz; de Denus, Simon; Dehghan, Abbas; Delgado, Graciela E; Doney, Alexander S; Dörr, Marcus; Dowsett, Joseph; Dudley, Samuel C; Engström, Gunnar; Erikstrup, Christian; Esko, Tõnu; Farber-Eger, Eric H; Felix, Stephan B; Finer, Sarah; Ford, Ian; Ghanbari, Mohsen; Ghasemi, Sahar; Ghouse, Jonas; Giedraitis, Vilmantas; Giulianini, Franco; Gottdiener, John S; Gross, Stefan; Guðbjartsson, Daníel F; Gui, Hongsheng; Gutmann, Rebecca; Hägg, Sara; Haggerty, Christopher M; Hedman, Åsa K; Helgadottir, Anna; Hemingway, Harry; Hillege, Hans; Hyde, Craig L; Aagaard Jensen, Bitten; Jukema, J Wouter; Kardys, Isabella; Karra, Ravi; Kavousi, Maryam; Kizer, Jorge R; Kleber, Marcus E; Køber, Lars; Koekemoer, Andrea; Kuchenbaecker, Karoline; Lai, Yi-Pin; Lanfear, David; Langenberg, Claudia; Lin, Honghuang; Lind, Lars; Lindgren, Cecilia M; Liu, Peter P; London, Barry; Lowery, Brandon D; Luan, Jian'an; Lubitz, Steven A; Magnusson, Patrik; Margulies, Kenneth B; Marston, Nicholas A; Martin, Hilary; März, Winfried; Melander, Olle; Mordi, Ify R; Morley, Michael P; Morris, Andrew P; Morrison, Alanna C; Morton, Lori; Nagle, Michael W; Nelson, Christopher P; Niessner, Alexander; Niiranen, Teemu; Noordam, Raymond; Nowak, Christoph; O'Donoghue, Michelle L; Ostrowski, Sisse Rye; Owens, Anjali T; Palmer, Colin N A; Paré, Guillaume; Pedersen, Ole Birger; Perola, Markus; Pigeyre, Marie; Psaty, Bruce M; Rice, Kenneth M; Ridker, Paul M; Romaine, Simon P R; Rotter, Jerome I; Ruff, Christian T; Sabatine, Marc S; Sallah, Neneh; Salomaa, Veikko; Sattar, Naveed; Shalaby, Alaa A; Shekhar, Akshay; Smelser, Diane T; Smith, Nicholas L; Sørensen, Erik; Srinivasan, Sundararajan; Stefansson, Kari; Sveinbjörnsson, Garðar; Svensson, Per; Tammesoo, Mari-Liis; Tardif, Jean-Claude; Teder-Laving, Maris; Teumer, Alexander; Thorgeirsson, Guðmundur; Thorsteinsdottir, Unnur; Torp-Pedersen, Christian; Tragante, Vinicius; Trompet, Stella; Uitterlinden, Andre G; Ullum, Henrik; van der Harst, Pim; van Heel, David; van Setten, Jessica; van Vugt, Marion; Veluchamy, Abirami; Verschuuren, Monique; Verweij, Niek; Vissing, Christoffer Rasmus; Völker, Uwe; Voors, Adriaan A; Wallentin, Lars; Wang, Yunzhang; Weeke, Peter E; Wiggins, Kerri L; Williams, L Keoki; Yang, Yifan; Yu, Bing; Zannad, Faiez; Zheng, Chaoqun; Asselbergs, Folkert W; Cappola, Thomas P; Dubé, Marie-Pierre; Dunn, Michael E; Lang, Chim C; Samani, Nilesh J; Shah, Svati; Vasan, Ramachandran S; Smith, J Gustav; Holm, Hilma; Shah, Sonia; Ellinor, Patrick T; Hingorani, Aroon D; Wells, Quinn; Lumbers, R Thomas

Genetic variants predisposing to an increased risk of kidney stone disease.

导致肾结石疾病风险增加的基因变异

Lovegrove Catherine E, Goldsworthy Michelle, Haley Jeremy, Smelser Diane, Gorvin Caroline, Hannan Fadil M, Mahajan Anubha, Suri Mohnish, Sadeghi-Alavijeh Omid, Moochhala Shabbir H, Gale Daniel P, Carey David, Holmes Michael V, Furniss Dominic, Thakker Rajesh V, Howles Sarah A

Genomic Ascertainment of CHEK2-Related Cancer Predisposition

CHEK2相关癌症易感性的基因组鉴定

Kim, Sun Young; Kim, Jung; Ramos, Mark; Haley, Jeremy; Smelser, Diane; Rao, H Shanker; Mirshahi, Uyenlinh L; Nathanson, Katherine L; Graubard, Barry I; Katki, Hormuzd A; Carey, David; Stewart, Douglas R

TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders

TERT c.3150 G > C (p.K1050N):一种与端粒生物学疾病相关的德系犹太人创始变异

de Andrade, Kelvin César; Pinto, Emilia M; Zhao, Tianna; Zeigler, Logan P; Kim, Jung; Giri, Neelam; Haley, Jeremy S; McReynolds, Lisa J; Florez-Vargas, Oscar; Phillips, Aaron H; Kriwacki, Richard W; Akinniyi, Sherifa A; Cohen, Scott B; Emerson, Matthew R; Smelser, Diane T; Urban, Gretchen M; Fridman, Cintia; Zambetti, Gerard P; Bryan, Tracy M; Carey, David J; Garcia, Christine Kim; Stewart, Douglas R; Savage, Sharon A

Novel polygenic risk score associates with diverticulitis in a multi-institutional, ancestrally diverse cohort

一项包含多个机构、具有不同祖先背景的队列研究发现,新型多基因风险评分与憩室炎相关。

Neylan, Christopher J; Ueland, Thomas; Abramowitz, Sarah A; DePaolo, John S; Tsao, Noah L; Roberson, Jeffrey L; Hawkins, Alexander T; Carey, David J; Smelser, Diane T; Levin, Michael G; Hoffman, Rebecca L; Damrauer, Scott M; Maguire, Lillias H

Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection

以基因组为先导的胸主动脉瘤和夹层罕见及常见变异风险评估方法

DePaolo, John; Smelser, Diane T; Guo, Dongchuan; Abramowitz, Sarah; Sisti, Gina; Judy, Renae; Desai, Nimesh; Szeto, Wilson Y; Levin, Michael G; Mirshahi, Hannah; Salzler, Gregory; Ryer, Evan; Elmore, James R; LeMaire, Scott A; Carey, David J; Milewicz, Dianna M; Damrauer, Scott M

Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy

全基因组关联分析为扩张型心肌病的分子病因学提供了见解

Zheng, Sean L; Henry, Albert; Cannie, Douglas; Lee, Michael; Miller, David; McGurk, Kathryn A; Bond, Isabelle; Xu, Xiao; Issa, Hanane; Francis, Catherine; De Marvao, Antonio; Theotokis, Pantazis I; Buchan, Rachel J; Speed, Doug; Abner, Erik; Adams, Lance; Aragam, Krishna G; Ärnlöv, Johan; Raja, Anna Axelsson; Backman, Joshua D; Baksi, John; Barton, Paul J R; Biddinger, Kiran J; Boersma, Eric; Brandimarto, Jeffrey; Brunak, Søren; Bundgaard, Henning; Carey, David J; Charron, Philippe; Cook, James P; Cook, Stuart A; Denaxas, Spiros; Deleuze, Jean-François; Doney, Alexander S; Elliott, Perry; Erikstrup, Christian; Esko, Tõnu; Farber-Eger, Eric H; Finan, Chris; Garnier, Sophie; Ghouse, Jonas; Giedraitis, Vilmantas; Guðbjartsson, Daniel F; Haggerty, Christopher M; Halliday, Brian P; Helgadottir, Anna; Hemingway, Harry; Hillege, Hans L; Kardys, Isabella; Lind, Lars; Lindgren, Cecilia M; Lowery, Brandon D; Manisty, Charlotte; Margulies, Kenneth B; Moon, James C; Mordi, Ify R; Morley, Michael P; Morris, Andrew D; Morris, Andrew P; Morton, Lori; Noursadeghi, Mahdad; Ostrowski, Sisse R; Owens, Anjali T; Palmer, Colin N A; Pantazis, Antonis; Pedersen, Ole B V; Prasad, Sanjay K; Shekhar, Akshay; Smelser, Diane T; Srinivasan, Sundararajan; Stefansson, Kari; Sveinbjörnsson, Garðar; Syrris, Petros; Tammesoo, Mari-Liis; Tayal, Upasana; Teder-Laving, Maris; Thorgeirsson, Guðmundur; Thorsteinsdottir, Unnur; Tragante, Vinicius; Trégouët, David-Alexandre; Treibel, Thomas A; Ullum, Henrik; Valdes, Ana M; van Setten, Jessica; van Vugt, Marion; Veluchamy, Abirami; Verschuren, W M Monique; Villard, Eric; Yang, Yifan; Asselbergs, Folkert W; Cappola, Thomas P; Dube, Marie-Pierre; Dunn, Michael E; Ellinor, Patrick T; Hingorani, Aroon D; Lang, Chim C; Samani, Nilesh J; Shah, Svati H; Smith, J Gustav; Vasan, Ramachandran S; O'Regan, Declan P; Holm, Hilma; Noseda, Michela; Wells, Quinn; Ware, James S; Lumbers, R Thomas

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants

以基因组为先导的方法研究致病性或可能致病性生殖系TP53变异的流行率和癌症表型

de Andrade, Kelvin C; Strande, Natasha T; Kim, Jung; Haley, Jeremy S; Hatton, Jessica N; Frone, Megan N; Khincha, Payal P; Thone, Gretchen M; Mirshahi, Uyenlinh L; Schneider, Cynthia; Desai, Heena; Dove, James T; Smelser, Diane T; Levine, Arnold J; Maxwell, Kara N; Stewart, Douglas R; Carey, David J; Savage, Sharon A

Genomic ascertainment of CHEK2-related cancer predisposition

CHEK2相关癌症易感性的基因组鉴定

Kim, Sun Young; Kim, Jung; Ramos, Mark; Haley, Jeremy; Smelser, Diane; Rao, H Shanker; Mirshahi, Uyenlinh L; Graubard, Barry I; Katki, Hormuzd A; Carey, David; Stewart, Douglas R