Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2C19 Genotype and Clopidogrel Therapy: 2022 Update
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
Published in Clinical pharmacology and therapeutics (01.11.2022)
Published in Clinical pharmacology and therapeutics (01.11.2022)
Get more information
Journal Article
Exome sequencing and analysis of 454,787 UK Biobank participants
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.
Published in Nature (London) (25.11.2021)
Published in Nature (London) (25.11.2021)
Get full text
Journal Article
Metformin Pharmacogenomics: Current Status and Future Directions
PAWLYK, Aaron C, GIACOMINI, Kathleen M, MCKEON, Catherine, SHULDINER, Alan R, FLOREZ, Jose C
Published in Diabetes (New York, N.Y.) (01.08.2014)
Published in Diabetes (New York, N.Y.) (01.08.2014)
Get full text
Journal Article
Analysis of the gut microbiota in the old order Amish and its relation to the metabolic syndrome
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
Published in PloS one (15.08.2012)
Published in PloS one (15.08.2012)
Get full text
Journal Article
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
Horowitz, Julie E., Kosmicki, Jack A., Damask, Amy, Sharma, Deepika, Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Yadav, Ashish, Leader, Joseph B., Marcketta, Anthony, Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Sun, Dylan, Baltzell, Asher, Kury, Fabricio S. P., Backman, Joshua D., Girshick, Ahna R., O’Dushlaine, Colm, McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Li, Alexander H., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Kang, Hyun M., Dobbyn, Lee, Stahl, Eli, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Jones, Marcus, Balasubramanian, Suganthi, Siminovitch, Katherine, Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Locke, Adam E., Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Reid, Jeffrey G., Ball, Catherine A., Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.
Published in Nature genetics (01.04.2022)
Published in Nature genetics (01.04.2022)
Get full text
Journal Article
The Association between Factor XI Deficiency and the Risk of Bleeding, Cardiovascular, and Venous Thromboembolic Events
Sharman Moser, Sarah, Chodick, Gabriel, Ni, Yan G., Chalothorn, Dan, Wang, Ming-Dauh, Shuldiner, Alan R., Morton, Lori, Salomon, Ophira, Jalbert, Jessica J.
Published in Thrombosis and haemostasis (01.05.2022)
Published in Thrombosis and haemostasis (01.05.2022)
Get full text
Journal Article
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort
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
Published in Diabetes (New York, N.Y.) (01.02.2020)
Published in Diabetes (New York, N.Y.) (01.02.2020)
Get full text
Journal Article
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
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.
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
Get full text
Journal Article
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease
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
Published in Scientific reports (10.03.2021)
Published in Scientific reports (10.03.2021)
Get full text
Journal Article
Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention
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.
Published in JACC. Cardiovascular interventions (22.01.2018)
Published in JACC. Cardiovascular interventions (22.01.2018)
Get full text
Journal Article
Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
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
Published in European journal of human genetics : EJHG (01.05.2023)
Published in European journal of human genetics : EJHG (01.05.2023)
Get full text
Journal Article
Identification of omentin as a novel depot-specific adipokine in human adipose tissue: possible role in modulating insulin action
Yang, Rong-Ze, Lee, Mi-Jeong, Hu, Hong, Pray, Jessica, Wu, Hai-Bin, Hansen, Barbara C, Shuldiner, Alan R, Fried, Susan K, McLenithan, John C, Gong, Da-Wei
Published in American journal of physiology: endocrinology and metabolism (01.06.2006)
Published in American journal of physiology: endocrinology and metabolism (01.06.2006)
Get full text
Journal Article
Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland
Kerr, Shona M, Klaric, Lucija, Muckian, Marisa D, Cowan, Emma, Snadden, Lesley, Tzoneva, Gannie, Shuldiner, Alan R, Miedzybrodzka, Zosia, Wilson, James F
Published in European journal of human genetics : EJHG (22.10.2024)
Published in European journal of human genetics : EJHG (22.10.2024)
Get full text
Journal Article
Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial
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
Published in Genetics in medicine (01.06.2018)
Published in Genetics in medicine (01.06.2018)
Get full text
Journal Article
Effect of serum zinc and copper levels on insulin secretion, insulin resistance and pancreatic β cell dysfunction in US adults: Findings from the National Health and Nutrition Examination Survey (NHANES) 2011–2012
Kant, Ravi, Verma, Vipin, Patel, Siddharth, Chandra, Rashmi, Chaudhary, Rahul, Shuldiner, Alan R., Munir, Kashif M.
Published in Diabetes research and clinical practice (01.02.2021)
Published in Diabetes research and clinical practice (01.02.2021)
Get full text
Journal Article
Association of Cytochrome P450 2C19 Genotype With the Antiplatelet Effect and Clinical Efficacy of Clopidogrel Therapy
Shuldiner, Alan R, O’Connell, Jeffrey R, Bliden, Kevin P, Gandhi, Amish, Ryan, Kathleen, Horenstein, Richard B, Damcott, Coleen M, Pakyz, Ruth, Tantry, Udaya S, Gibson, Quince, Pollin, Toni I, Post, Wendy, Parsa, Afshin, Mitchell, Braxton D, Faraday, Nauder, Herzog, William, Gurbel, Paul A
Published in JAMA : the journal of the American Medical Association (26.08.2009)
Published in JAMA : the journal of the American Medical Association (26.08.2009)
Get full text
Journal Article