Výsledky vyhľadávania - "Shuldiner, Alan"

Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2C19 Genotype and Clopidogrel Therapy: 2022 Update Autor Lee, Craig R, Luzum, Jasmine A, Sangkuhl, Katrin, Gammal, Roseann S, Sabatine, Marc S, Stein, Charles Michael, Kisor, David F, Limdi, Nita A, Lee, Yee Ming, Scott, Stuart A, Hulot, Jean-Sébastien, Roden, Dan M, Gaedigk, Andrea, Caudle, Kelly E, Klein, Teri E, Johnson, Julie A, Shuldiner, Alan R

“…CYP2C19 catalyzes the bioactivation of the antiplatelet prodrug clopidogrel, and CYP2C19 genotype impacts clopidogrel active metabolite formation. CYP2C19…”
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Exome sequencing and analysis of 454,787 UK Biobank participants Autor Backman, Joshua D., Li, Alexander H., Marcketta, Anthony, Sun, Dylan, Mbatchou, Joelle, Kessler, Michael D., Benner, Christian, Liu, Daren, Locke, Adam E., Balasubramanian, Suganthi, Yadav, Ashish, Banerjee, Nilanjana, Gillies, Christopher E., Damask, Amy, Liu, Simon, Bai, Xiaodong, Hawes, Alicia, Maxwell, Evan, Gurski, Lauren, Watanabe, Kyoko, Kosmicki, Jack A., Rajagopal, Veera, Mighty, Jason, Jones, Marcus, Mitnaul, Lyndon, Stahl, Eli, Coppola, Giovanni, Jorgenson, Eric, Habegger, Lukas, Salerno, William J., Shuldiner, Alan R., Lotta, Luca A., Overton, John D., Cantor, Michael N., Reid, Jeffrey G., Yancopoulos, George, Kang, Hyun M., Marchini, Jonathan, Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.

“…A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here…”
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Academic and industry perspectives on pharmacogenomics: drug optimization Autor Shuldiner, Alan

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank Autor Van Hout, Cristopher V., Tachmazidou, Ioanna, Backman, Joshua D., Hoffman, Joshua D., Liu, Daren, Pandey, Ashutosh K., Gonzaga-Jauregui, Claudia, Khalid, Shareef, Ye, Bin, Banerjee, Nilanjana, Li, Alexander H., O’Dushlaine, Colm, Marcketta, Anthony, Staples, Jeffrey, Schurmann, Claudia, Hawes, Alicia, Maxwell, Evan, Barnard, Leland, Lopez, Alexander, Penn, John, Habegger, Lukas, Blumenfeld, Andrew L., Bai, Xiaodong, O’Keeffe, Sean, Yadav, Ashish, Praveen, Kavita, Jones, Marcus, Salerno, William J., Chung, Wendy K., Surakka, Ida, Willer, Cristen J., Hveem, Kristian, Leader, Joseph B., Carey, David J., Ledbetter, David H., Cardon, Lon, Yancopoulos, George D., Economides, Aris, Coppola, Giovanni, Shuldiner, Alan R., Balasubramanian, Suganthi, Cantor, Michael, Nelson, Matthew R., Whittaker, John, Reid, Jeffrey G., Marchini, Jonathan, Overton, John D., Scott, Robert A., Abecasis, Gonçalo R., Yerges-Armstrong, Laura, Baras, Aris

“…The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around…”
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Metformin pharmacogenomics: current status and future directions Autor Pawlyk, Aaron C, Giacomini, Kathleen M, McKeon, Catherine, Shuldiner, Alan R, Florez, Jose C

“…The incidence of type 2 diabetes (T2D) and its costs to the health care system continue to rise. Despite the availability of at least 10 drug classes for the…”
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Analysis of the Gut Microbiota in the Old Order Amish and Its Relation to the Metabolic Syndrome Autor Zupancic, Margaret L., Cantarel, Brandi L., Liu, Zhenqiu, Drabek, Elliott F., Ryan, Kathleen A., Cirimotich, Shana, Jones, Cheron, Knight, Rob, Walters, William A., Knights, Daniel, Mongodin, Emmanuel F., Horenstein, Richard B., Mitchell, Braxton D., Steinle, Nanette, Snitker, Soren, Shuldiner, Alan R., Fraser, Claire M.

“…Obesity has been linked to the human gut microbiota; however, the contribution of gut bacterial species to the obese phenotype remains controversial because of…”
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The Association between Factor XI Deficiency and the Risk of Bleeding, Cardiovascular, and Venous Thromboembolic Events Autor Sharman Moser, Sarah, Chodick, Gabriel, Ni, Yan G., Chalothorn, Dan, Wang, Ming-Dauh, Shuldiner, Alan R., Morton, Lori, Salomon, Ophira, Jalbert, Jessica J.

“…Abstract The objective of this study was to assess the relationship between factor XI (FXI) deficiency and the risks of bleeding and cardiovascular (CV)…”
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Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish Autor Lynch, Megan T., Maloney, Kristin A., Xu, Huichun, Perry, James A., Center, Regeneron Genetics, Shuldiner, Alan R., Mitchell, Braxton D.

“…Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits…”
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Pharmacogenomics: the low-hanging fruit in the personalized medicine tree Autor Patrinos, George P., Shuldiner, Alan R.

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Regionally enriched rare deleterious exonic variants in the UK and Ireland Autor Halachev, Mihail, Gountouna, Viktoria-Eleni, Meynert, Alison, Tzoneva, Gannie, Shuldiner, Alan R., Semple, Colin A., Wilson, James F.

“…It is unclear how patterns of regional genetic differentiation in the UK and Ireland might impact the protein-coding fraction of the genome. We exploit UK…”
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Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort Autor Gonzaga-Jauregui, Claudia, Ge, Wenzhen, Staples, Jeffrey, Van Hout, Cristopher, Yadav, Ashish, Colonie, Ryan, Leader, Joseph B, Kirchner, H Lester, Murray, Michael F, Reid, Jeffrey G, Carey, David J, Overton, John D, Shuldiner, Alan R, Gottesman, Omri, Gao, Steve, Gromada, Jesper, Baras, Aris, Altarejos, Judith

“…Lipodystrophies are a group of disorders characterized by absence or loss of adipose tissue and abnormal fat distribution, commonly accompanied by metabolic…”
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Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease Autor Horowitz, Julie E., Warner, Neil, Staples, Jeffrey, Crowley, Eileen, Gosalia, Nehal, Murchie, Ryan, Van Hout, Cristopher, Fiedler, Karoline, Welch, Gabriel, King, Alejandra Klauer, Reid, Jeffrey G., Overton, John D., Baras, Aris, Shuldiner, Alan R., Griffiths, Anne, Gottesman, Omri, Muise, Aleixo M., Gonzaga-Jauregui, Claudia

“…Inflammatory bowel disease (IBD), clinically defined as Crohn’s disease (CD), ulcerative colitis (UC), or IBD-unclassified, results in chronic inflammation of…”
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Germline Mutations in CIDEB and Protection against Liver Disease Autor Verweij, Niek, Haas, Mary E., Nielsen, Jonas B., Sosina, Olukayode A., Kim, Minhee, Akbari, Parsa, De, Tanima, Hindy, George, Bovijn, Jonas, Persaud, Trikaldarshi, Miloscio, Lawrence, Germino, Mary, Panagis, Lampros, Watanabe, Kyoko, Mbatchou, Joelle, Jones, Marcus, LeBlanc, Michelle, Balasubramanian, Suganthi, Lammert, Craig, Enhörning, Sofia, Melander, Olle, Carey, David J., Still, Christopher D., Mirshahi, Tooraj, Rader, Daniel J., Parasoglou, Prodromos, Walls, Johnathon R., Overton, John D., Reid, Jeffrey G., Economides, Aris, Cantor, Michael N., Zambrowicz, Brian, Murphy, Andrew J., Abecasis, Goncalo R., Ferreira, Manuel A.R., Smagris, Eriks, Gusarova, Viktoria, Sleeman, Mark, Yancopoulos, George D., Marchini, Jonathan, Kang, Hyun M., Karalis, Katia, Shuldiner, Alan R., Della Gatta, Giusy, Locke, Adam E., Baras, Aris, Lotta, Luca A.

“…Rare mutations in CIDEB protect against liver disease, making the gene a candidate target for treatment. Suppression of CIDEB interferes with the formation of…”
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Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals Autor Kosmicki, Jack A, Horowitz, Julie E, Banerjee, Nilanjana, Lanche, Rouel, Marcketta, Anthony, Maxwell, Evan, Bai, Xiaodong, Sun, Dylan, Backman, Joshua D, Sharma, Deepika, Kury, Fabricio S P, Kang, Hyun M, O'Dushlaine, Colm, Yadav, Ashish, Mansfield, Adam J, Li, Alexander H, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E, Locke, Adam E, Khalid, Shareef, O'Keeffe, Sean, Mbatchou, Joelle, Chazara, Olympe, Huang, Yunfeng, Kvikstad, Erika, O'Neill, Amanda, Nioi, Paul, Parker, Meg M, Petrovski, Slavé, Runz, Heiko, Szustakowski, Joseph D, Wang, Quanli, Wong, Emily, Cordova-Palomera, Aldo, Smith, Erin N, Szalma, Sandor, Zheng, Xiuwen, Esmaeeli, Sahar, Davis, Justin W, Lai, Yi-Pin, Chen, Xing, Justice, Anne E, Leader, Joseph B, Mirshahi, Tooraj, Carey, David J, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D, Rader, Daniel J, Povysil, Gundula, Goldstein, David B, Kiryluk, Krzysztof, Pairo-Castineira, Erola, Rawlik, Konrad, Pasko, Dorota, Walker, Susan, Meynert, Alison, Kousathanas, Athanasios, Moutsianas, Loukas, Tenesa, Albert, Caulfield, Mark, Scott, Richard, Wilson, James F, Baillie, J Kenneth, Butler-Laporte, Guillaume, Nakanishi, Tomoko, Lathrop, Mark, Richards, J Brent, Jones, Marcus, Balasubramanian, Suganthi, Salerno, William, Shuldiner, Alan R, Marchini, Jonathan, Overton, John D, Habegger, Lukas, Cantor, Michael N, Reid, Jeffrey G, Baras, Aris, Abecasis, Goncalo R, Ferreira, Manuel A R

“…Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), a respiratory illness that can result in…”
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Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention Autor Cavallari, Larisa H, Lee, Craig R, Beitelshees, Amber L, Cooper-DeHoff, Rhonda M, Duarte, Julio D, Voora, Deepak, Kimmel, Stephen E, McDonough, Caitrin W, Gong, Yan, Dave, Chintan V, Pratt, Victoria M, Alestock, Tameka D, Anderson, R David, Alsip, Jorge, Ardati, Amer K, Brott, Brigitta C, Brown, Lawrence, Chumnumwat, Supatat, Clare-Salzler, Michael J, Coons, James C, Denny, Joshua C, Dillon, Chrisly, Elsey, Amanda R, Hamadeh, Issam S, Harada, Shuko, Hillegass, William B, Hines, Lindsay, Horenstein, Richard B, Howell, Lucius A, Jeng, Linda J B, Kelemen, Mark D, Lee, Yee Ming, Magvanjav, Oyunbileg, Montasser, May, Nelson, David R, Nutescu, Edith A, Nwaba, Devon C, Pakyz, Ruth E, Palmer, Kathleen, Peterson, Josh F, Pollin, Toni I, Quinn, Alison H, Robinson, Shawn W, Schub, Jamie, Skaar, Todd C, Smith, D Max, Sriramoju, Vindhya B, Starostik, Petr, Stys, Tomasz P, Stevenson, James M, Varunok, Nicholas, Vesely, Mark R, Wake, Dyson T, Weck, Karen E, Weitzel, Kristin W, Wilke, Russell A, Willig, James, Zhao, Richard Y, Kreutz, Rolf P, Stouffer, George A, Empey, Philip E, Limdi, Nita A, Shuldiner, Alan R, Winterstein, Almut G, Johnson, Julie A

“…This multicenter pragmatic investigation assessed outcomes following clinical implementation of CYP2C19 genotype-guided antiplatelet therapy after percutaneous…”
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Tailored Approach to Designing a Digital Research Platform for Adults Aged 95 and Older: SuperAgers Family Study Autor Milman, Sofiya, Montgomery, Aisha, Barzilai, Nir, Gao, Tina, Wilson, Kara A, Perls, Thomas, McGovern Leahy, Aoife, Burgis, Elizabeth, Ruxton, Megan, Jain, Praduman, Shuldiner, Alan R

“…The SuperAgers Family study aims to investigate phenotypic and genetic mechanisms related to healthy aging in nonagenarians, centenarians, and their family…”
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Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians Autor Kerr, Shona M, Cowan, Emma, Klaric, Lucija, Bell, Christine, O'Sullivan, Dawn, Buchanan, David, Grzymski, Joseph J, van Hout, Cristopher V, Tzoneva, Gannie, Shuldiner, Alan R, Wilson, James F, Miedzybrodzka, Zosia

“…We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer…”
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Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals Autor Sun, Kathie Y., Bai, Xiaodong, Chen, Siying, Bao, Suying, Zhang, Chuanyi, Kapoor, Manav, Backman, Joshua, Joseph, Tyler, Maxwell, Evan, Mitra, George, Gorovits, Alexander, Mansfield, Adam, Boutkov, Boris, Gokhale, Sujit, Habegger, Lukas, Marcketta, Anthony, Locke, Adam E., Ganel, Liron, Hawes, Alicia, Kessler, Michael D., Sharma, Deepika, Staples, Jeffrey, Bovijn, Jonas, Gelfman, Sahar, Di Gioia, Alessandro, Rajagopal, Veera M., Lopez, Alexander, Varela, Jennifer Rico, Alegre-Díaz, Jesús, Berumen, Jaime, Tapia-Conyer, Roberto, Kuri-Morales, Pablo, Torres, Jason, Emberson, Jonathan, Collins, Rory, Cantor, Michael, Thornton, Timothy, Kang, Hyun Min, Overton, John D., Shuldiner, Alan R., Cremona, M. Laura, Nafde, Mona, Baras, Aris, Abecasis, Gonçalo, Marchini, Jonathan, Reid, Jeffrey G., Salerno, William, Balasubramanian, Suganthi

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Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial Autor Kleinberger, Jeffrey W, Copeland, Kenneth C, Gandica, Rachelle G, Haymond, Morey W, Levitsky, Lynne L, Linder, Barbara, Shuldiner, Alan R, Tollefsen, Sherida, White, Neil H, Pollin, Toni I

“…Purpose Monogenic diabetes accounts for 1–2% of diabetes cases. It is often undiagnosed, which may lead to inappropriate treatment. This study was performed to…”
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Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland Autor Kerr, Shona M, Klaric, Lucija, Muckian, Marisa D, Cowan, Emma, Snadden, Lesley, Tzoneva, Gannie, Shuldiner, Alan R, Miedzybrodzka, Zosia, Wilson, James F

“…For breast and ovarian cancer risk assessment in the isolated populations of the Northern Isles of Orkney and Shetland (in Scotland, UK) and their diasporas,…”
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