Hasil Pencarian - Regeneron Genetics Center
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Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle‐aged and older adults: A population‐based cohort study... oleh Eric Manderstedt, Christina Lind‐Halldén, Christer Halldén, Johan Elf, Peter J. Svensson, Gunnar Engström, Olle Melander, Aris Baras, Luca A. Lotta, Bengt Zöller, for the Regeneron Genetics Center
Diterbitkan 2022-10-01
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Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population oleh Shefali S. Verma, Karl Keat, Binglan Li, Glenda Hoffecker, Marjorie Risman, Regeneron Genetics Center, Katrin Sangkuhl, Michelle Whirl-Carrillo, Scott Dudek, Anurag Verma, Teri E. Klein, Marylyn D. Ritchie, Sony Tuteja
Diterbitkan 2022-11-01
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Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction oleh Jiangming Sun, Yunpeng Wang, Lasse Folkersen, Yan Borné, Inge Amlien, Alfonso Buil, Marju Orho-Melander, Anders D. Børglum, David M. Hougaard, Regeneron Genetics Center, Olle Melander, Gunnar Engström, Thomas Werge, Kasper Lage
Diterbitkan 2021-09-01
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Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes oleh Aimee M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Lucas BonDurant, Gregory Hinkle, Parsa Akbari, Luca A. Lotta, Regeneron Genetics Center, DiscovEHR Collaboration, Aris Baras, Paul Nioi
Diterbitkan 2021-11-01
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Genetics of height and risk of atrial fibrillation: A Mendelian randomization study. oleh Michael G Levin, Renae Judy, Dipender Gill, Marijana Vujkovic, Shefali S Verma, Yuki Bradford, Regeneron Genetics Center, Marylyn D Ritchie, Matthew C Hyman, Saman Nazarian, Daniel J Rader, Benjamin F Voight, Scott M Damrauer
Diterbitkan 2020-10-01
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A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipids oleh Leonida Hehl, Kate T. Creasy, Cecilia Vitali, Eleonora Scorletti, Katharina S. Seeling, Mara S. Vell, Miriam D. Rendel, Donna Conlon, Regeneron Genetics Center, Marijana Vujkovic, Inuk Zandvakili, Christian Trautwein, Kai M. Schneider, Daniel J. Rader, Carolin V. Schneider
Diterbitkan 2024-05-01
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Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort. oleh Daniel Hui, Shadi Mehrabi, Alexandra E Quimby, Tingfang Chen, Sixing Chen, Joseph Park, Binglan Li, Regeneron Genetics Center, Penn Medicine Biobank, Michael J Ruckenstein, Daniel J Rader, Marylyn D Ritchie, Jason A Brant, Douglas J Epstein, Iain Mathieson
Diterbitkan 2023-01-01
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Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank oleh Noura S. Abul-Husn, Emily R. Soper, Jacqueline A. Odgis, Sinead Cullina, Dean Bobo, Arden Moscati, Jessica E. Rodriguez, CBIPM Genomics Team, Regeneron Genetics Center, Ruth J. F. Loos, Judy H. Cho, Gillian M. Belbin, Sabrina A. Suckiel, Eimear E. Kenny
Diterbitkan 2019-12-01
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Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies oleh Taylor B. Cavazos, Linda Kachuri, Rebecca E. Graff, Jovia L. Nierenberg, Khanh K. Thai, Stacey Alexeeff, Stephen Van Den Eeden, Douglas A. Corley, Lawrence H. Kushi, Regeneron Genetics Center, Thomas J. Hoffmann, Elad Ziv, Laurel A. Habel, Eric Jorgenson, Lori C. Sakoda, John S. Witte
Diterbitkan 2022-10-01
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Comprehensive association analysis of speech recognition thresholds after cisplatin‐based chemotherapy in survivors of adult‐onset cancer oleh Mohammad Shahbazi, Xindi Zhang, Paul C. Dinh, Victoria A. Sanchez, Matthew R. Trendowski, Megan M. Shuey, Tessa Nguyen, Regeneron Genetics Center, Darren R. Feldman, David J. Vaughn, Chunkit Fung, Christian Kollmannsberger, Neil E. Martin, Lawrence H. Einhorn, Nancy J. Cox, Robert D. Frisina, Lois B. Travis, Mary Eileen Dolan
Diterbitkan 2023-02-01
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GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms oleh Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville, Shira Tsour, Alexander O. Flynn-Carroll, Margaret M. Parker, Aimee M. Deaton, Patrick A. J. Haslett, Luca A. Lotta, Niek Verweij, Manuel A. R. Ferreira, Regeneron Genetics Center, Geisinger-Regeneron DiscovEHR Collaboration, Aris Baras, Gregory Hinkle, Paul Nioi
Diterbitkan 2021-07-01
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MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data. oleh Larry N Singh, Brian Ennis, Bryn Loneragan, Noah L Tsao, M Isabel G Lopez Sanchez, Jianping Li, Patrick Acheampong, Oanh Tran, Ian A Trounce, Yuankun Zhu, Prasanth Potluri, Regeneron Genetics Center, Beverly S Emanuel, Daniel J Rader, Zoltan Arany, Scott M Damrauer, Adam C Resnick, Stewart A Anderson, Douglas C Wallace
Diterbitkan 2021-11-01
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A large meta-analysis identifies genes associated with anterior uveitis oleh Sahar Gelfman, Arden Moscati, Santiago Mendez Huergo, Rujin Wang, Veera Rajagopal, Neelroop Parikshak, Vijay Kumar Pounraja, Esteban Chen, Michelle Leblanc, Ralph Hazlewood, Jan Freudenberg, Blerta Cooper, Ann J. Ligocki, Charles G. Miller, Tavé Van Zyl, Jonathan Weyne, Carmelo Romano, Botir Sagdullaev, Olle Melander, Aris Baras, Regeneron Genetics Center, Eli A. Stahl, Giovanni Coppola
Diterbitkan 2023-11-01
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Pharmacogenomics of cisplatin‐induced neurotoxicities: Hearing loss, tinnitus, and peripheral sensory neuropathy oleh Xindi Zhang, Matthew R. Trendowski, Emma Wilkinson, Mohammad Shahbazi, Paul C. Dinh, Megan M. Shuey, Regeneron Genetics Center, Darren R. Feldman, Robert J. Hamilton, David J. Vaughn, Chunkit Fung, Christian Kollmannsberger, Robert Huddart, Neil E. Martin, Victoria A. Sanchez, Robert D. Frisina, Lawrence H. Einhorn, Nancy J. Cox, Lois B. Travis, M. Eileen Dolan
Diterbitkan 2022-07-01
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MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk oleh Ida Surakka, Lars G. Fritsche, Wei Zhou, Joshua Backman, Jack A. Kosmicki, Haocheng Lu, Ben Brumpton, Jonas B. Nielsen, Maiken E. Gabrielsen, Anne Heidi Skogholt, Brooke Wolford, Sarah E. Graham, Y. Eugene Chen, Seunggeun Lee, Hyun Min Kang, Arnulf Langhammer, Siri Forsmo, Bjørn O. Åsvold, Unnur Styrkarsdottir, Hilma Holm, Daniel Gudbjartsson, Kari Stefansson, Aris Baras, Regeneron Genetics Center, Goncalo R. Abecasis, Kristian Hveem, Cristen J. Willer
Diterbitkan 2020-10-01
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Population-scale analysis of common and rare genetic variation associated with hearing loss in adults oleh Kavita Praveen, Lee Dobbyn, Lauren Gurski, Ariane H. Ayer, Jeffrey Staples, Shawn Mishra, Yu Bai, Alexandra Kaufman, Arden Moscati, Christian Benner, Esteban Chen, Siying Chen, Alexander Popov, Janell Smith, GHS-REGN DiscovEHR collaboration, Regeneron Genetics Center, Decibel-REGN collaboration, Olle Melander, Marcus B. Jones, Jonathan Marchini, Suganthi Balasubramanian, Brian Zambrowicz, Meghan C. Drummond, Aris Baras, Goncalo R. Abecasis, Manuel A. Ferreira, Eli A. Stahl, Giovanni Coppola
Diterbitkan 2022-06-01
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Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH oleh Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung
Diterbitkan 2021-06-01
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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH oleh Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Juaregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung
Diterbitkan 2021-05-01
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