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

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden

UBA1 突变负荷广泛范围内 VEXAS 综合征的临床表现

Anderson, Meghan; Ercelen, Defne; Richardson, Ashley; Kim, Jung; Torene, Rebecca I; Sirenko, Maria; Haley, Jeremy S; Cook, Adam; Hill, Wesley; Dove, James; Retterer, Kyle; Carroll, Eitan; Carey, David J; Asgari, Samira; Stewart, Douglas R; Beck, David B

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify

MODY在晚发型糖尿病中较为常见,具有靶向治疗的潜力,但识别难度较大。

Sharp, Luke N; Mirshahi, Uyenlinh L; Colclough, Kevin; Hall, Timothy S; Haley, Jeremy S; Cannon, Stuart J; Laver, Thomas W; Weedon, Michael N; Hattersley, Andrew T; Carey, David J; Patel, Kashyap A

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment

利用基因组检测方法评估携带 RAS/MAPK 基因致病性种系变异的成年人的癌症风险

Kim, Jung; Ney, Gina; Frone, Megan N; Haley, Jeremy S; Ramos, Mark L; Mirshahi, Uyenlinh L; Astiazaran-Symonds, Esteban; Shandrina, Mariya; Urban, Gretchen; Rao, H Shanker; Stahl, Rick; Golden, Alicia; Yohe, Marielle E; Gross, Andrea M; Ding, Yi; Carey, David J; Gelb, Bruce D; Stewart, Douglas R

Knee health and associations with female-specific health, physical, psychological and social-gendered factors in women runners: the TRAIL-W cohort study protocol

女性跑步者膝关节健康及其与女性特有的健康、生理、心理和社会性别因素的关联:TRAIL-W队列研究方案

Haberfield, Melissa J; Mentiplay, Benjamin F; De Oliveira Silva, Danilo; Hayman, Melanie; Dakic, Jodie; McGhee, Deirdre E; Ryan-Atwood, Taliesin E; Thornton, Jane S; Clarke, Anthea; Govus, Andrew D; Hill, Joshua P; Cooper, Indiana; Serighelli, Fernanda; Patterson, Brooke; Bruder, Andrea; Girdwood, Michael A; Carey, David; Tamer, Stephanie; Briggs, Connie; Schulz, Jenna; Trease, Lari; Johnston, Richard T R; West, Thomas J; Warden, Stuart; Souza, Richard; Belski, Regina; Cooke, Matthew B; Smith, Anne Julia; Binnie, Tara; Crossley, Kay M

Genomic ascertainment of PALB2 -related cancer predisposition

PALB2相关癌症易感性的基因组鉴定

Stewart, Douglas R; Kim, Jung; Haley, Jeremy S; Li, Jiang; Sargen, Michael R; Hong, Hyokyoung; Tischkowitz, Marc; McReynolds, Lisa J; Carey, David J

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

Author Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes

作者更正:对 51,256 例 2 型糖尿病患者和 370,487 例对照者的罕见变异分析揭示了单基因糖尿病基因的致病谱

Huerta-Chagoya, Alicia; Schroeder, Philip; Mandla, Ravi; Li, Jiang; Morris, Lowri; Vora, Maheak; Alkanaq, Ahmed; Nagy, Dorka; Szczerbinski, Lukasz; Madsen, Jesper G S; Bonàs-Guarch, Silvia; Mollandin, Fanny; Cole, Joanne B; Porneala, Bianca; Westerman, Kenneth; Li, Josephine H; Pollin, Toni I; Florez, Jose C; Gloyn, Anna L; Carey, David J; Cebola, Inês; Mirshahi, Uyenlinh L; Manning, Alisa K; Leong, Aaron; Udler, Miriam; Mercader, Josep M

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

Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts

基于基因组的8个种系髓系恶性肿瘤易感基因的患病率和外显率测定:一项基于两个人群队列的研究

Hendricks, Rachel M; Kim, Jung; Haley, Jeremy S; Ramos, Mark Louie; Mirshahi, Uyenlinh L; Carey, David J; Stewart, Douglas R; McReynolds, Lisa J