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Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes (vol 56, pg 2370, 2024) 在51,256例2型糖尿病病例和370,487例对照中的稀有变异分析揭示了单基因糖尿病基因的致病性谱系（vol 56, pg 2370, 2024） Huerta-Chagoya, Alicia; Schroeder, Philip; Mandla, Ravi; Li, Jiang; Morris, Lowri; Vora, Maheak; Alkanaq, Ahmed; Nagy, Dorka; Szczerbinski, Lukasz; Madsen, Jesper G. S.; Bonas-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, Ines; Mirshahi, Uyenlinh L.; Manning, Alisa K.; Leong, Aaron; Udler, Miriam; Mercader, Josep M. 分享 收藏
Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings 锌转运蛋白SLC39A5的遗传失活可改善致肥胖环境中的肝功能和高血糖 Chim, Shek Man; Howell, Kristen; Dronzek, John; Wu, Weizhen; Van Hout, Cristopher; Ferreira, Manuel A. R.; Ye, Bin; Li, Alexander; Brydges, Susannah; Arunachalam, Vinayagam; Marcketta, Anthony; Locke, Adam E.; Bovijn, Jonas; Verweij, Niek; De, Tanima; Lotta, Luca; Mitnaul, Lyndon; LeBlanc, Michelle; Carey, David J.; Melander, Olle; Shuldiner, Alan; Karalis, Katia; Economides, Aris N.; Nistala, Harikiran 分享 收藏
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Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes (vol 56, pg 2370, 2024) 在51,256例2型糖尿病病例和370,487例对照中的罕见变异分析揭示了单基因糖尿病基因的致病性谱系（vol 56, pg 2370, 2024） Huerta-Chagoya, Alicia; Schroeder, Philip; Mandla, Ravi; Li, Jiang; Morris, Lowri; Vora, Maheak; Alkanaq, Ahmed; Nagy, Dorka; Szczerbinski, Lukasz; Madsen, Jesper G. S.; Bonas-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, Ines; Mirshahi, Uyenlinh L.; Manning, Alisa K.; Leong, Aaron; Udler, Miriam; Mercader, Josep M. 分享 收藏
Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals 在92,455个人的外显子组测序队列中鉴定与化脓性汗腺炎相关的新遗传风险变异 Metpally, Raghu P.; Vishweswaraiah, Sangeetha; Krishnamurthy, Sarathbabu; Saiyed, Nazia; Stahl, Richard C.; Golden, Alicia; Denisenko, Andrew; Staples, Jeffrey; Gonzaga-Jauregui, Claudia; Carey, David J.; Bechara, Falk; Jemec, Gregor B. E.; Williams, Heinric; Radhakrishna, Uppala; Geisinger-Regeneron DiscovEHR Collaboration 分享 收藏
Genetic risk factors for COVID-19 and influenza are largely distinct Kosmicki, Jack A.; Marcketta, Anthony; Sharma, Deepika; Di Gioia, Silvio Alessandro; Batista, Samantha; Yang, Xiao-Man; Tzoneva, Gannie; Martinez, Hector; Sidore, Carlo; Kessler, Michael D.; Horowitz, Julie E.; Roberts, Genevieve H. L.; Justice, Anne E.; Banerjee, Nilanjana; Coignet, Marie V.; Leader, Joseph B.; Park, Danny S.; Lanche, Rouel; Maxwell, Evan; Knight, Spencer C.; Bai, Xiaodong; Guturu, Harendra; Baltzell, Asher; Girshick, Ahna R.; McCurdy, Shannon R.; Partha, Raghavendran; Mansfield, Adam J.; Turissini, David A.; Zhang, Miao; Mbatchou, Joelle; Watanabe, Kyoko; Verma, Anurag; Sirugo, Giorgio; Ritchie, Marylyn D.; Salerno, William J.; Shuldiner, Alan R.; Rader, Daniel J.; Mirshahi, Tooraj; Marchini, Jonathan; Overton, John D.; Carey, David J.; Habegger, Lukas; Reid, Jeffrey G.; Economides, Aris; Kyratsous, Christos; Karalis, Katia; Baum, Alina; Cantor, Michael N.; Rand, Kristin A.; Hong, Eurie L.; Ball, Catherine A.; Siminovitch, Katherine; Baras, Aris; Abecasis, Goncalo R.; Ferreira, Manuel A. R. 分享 收藏
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis 综合常见和罕见变异分析提供了肝硬化遗传结构的见解 Ghouse, Jonas; Sveinbjornsson, Gardar; Vujkovic, Marijana; Seidelin, Anne-Sofie; Gellert-Kristensen, Helene; Ahlberg, Gustav; Tragante, Vinicius; Rand, Soren A.; Brancale, Joseph; Vilarinho, Silvia; Lundegaard, Pia Rengtved; Sorensen, Erik; Erikstrup, Christian; Bruun, Mie Topholm; Jensen, Bitten Aagaard; Brunak, Soren; 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; Magi, Reedik; Kozlitina, Julia; Tybjaerg-Hansen, Anne; Jones, David; Knowlton, Kirk U.; Nadauld, Lincoln; Ferkingstad, Egil; Bjornsson, Einar S.; Ulfarsson, Magnus O.; Sturluson, Arni; 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 分享 收藏
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Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis Loginovic, Pavel; Wang, Feiyi; Li, Jiang; Ferrat, Lauric; Mirshahi, Uyenlinh L.; Rao, H. Shanker; Petzold, Axel; Tyrrell, Jessica; Green, Harry D.; Weedon, Michael N.; Ganna, Andrea; Tuomi, Tiinamaija; Carey, David J.; Oram, Richard A.; Braithwaite, Tasanee 分享 收藏
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Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome Sargen, Michael R.; Kim, Jung; Potjer, Thomas P.; Velthuizen, Mary E.; Martir-Negron, Arelis E.; Odia, Yazmin; Helgadottir, Hildur; Hatton, Jessica N.; Haley, Jeremy S.; Thone, Gretchen; Widemann, Brigitte C.; Gross, Andrea M.; Yohe, Marielle E.; Kaplan, Rosandra N.; Shern, Jack F.; Sundby, R. Taylor; Astiazaran-Symonds, Esteban; Yang, Xiaohong R.; Carey, David J.; Tucker, Margaret A.; Stewart, Douglas R.; Goldstein, Alisa M. 分享 收藏
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