Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans
Edmondson, Andrew C, Brown, Robert J, Kathiresan, Sekar, Cupples, L Adrienne, Demissie, Serkalem, Manning, Alisa Knodle, Jensen, Majken K, Rimm, Eric B, Wang, Jian, Rodrigues, Amrith, Bamba, Vaneeta, Khetarpal, Sumeet A, Wolfe, Megan L, Derohannessian, Stephanie, Li, Mingyao, Reilly, Muredach P, Aberle, Jens, Evans, David, Hegele, Robert A, Rader, Daniel J
Published in The Journal of clinical investigation (01.04.2009)
Published in The Journal of clinical investigation (01.04.2009)
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Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol
Khetarpal, Sumeet A, Edmondson, Andrew C, Raghavan, Avanthi, Neeli, Hemanth, Jin, Weijun, Badellino, Karen O, Demissie, Serkalem, Manning, Alisa K, DerOhannessian, Stephanie L, Wolfe, Megan L, Cupples, L Adrienne, Li, Mingyao, Kathiresan, Sekar, Rader, Daniel J
Published in PLoS genetics (01.12.2011)
Published in PLoS genetics (01.12.2011)
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Genetic Variants Associated With Plasma Lipids Are Associated With the Lipid Response to Niacin
Tuteja, Sony, Qu, Liming, Vujkovic, Marijana, Dunbar, Richard L, Chen, Jinbo, DerOhannessian, Stephanie, Rader, Daniel J
Published in Journal of the American Heart Association (02.10.2018)
Published in Journal of the American Heart Association (02.10.2018)
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Integrative genomics identifies 7p11.2 as a novel locus for fever and clinical stress response in humans
Ferguson, Jane F, Meyer, Nuala J, Qu, Liming, Xue, Chenyi, Liu, Yichuan, DerOhannessian, Stephanie L, Rushefski, Melanie, Paschos, Georgios K, Tang, Soonyew, Schadt, Eric E, Li, Mingyao, Christie, Jason D, Reilly, Muredach P
Published in Human molecular genetics (15.03.2015)
Published in Human molecular genetics (15.03.2015)
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Health care worker seromonitoring reveals complex relationships between common coronavirus antibodies and COVID-19 symptom duration
Gouma, Sigrid, Weirick, Madison E, Bolton, Marcus J, Arevalo, Claudia P, Goodwin, Eileen C, Anderson, Elizabeth M, McAllister, Christopher M, Christensen, Shannon R, Dunbar, Debora, Fiore, Danielle, Brock, Amanda, Weaver, JoEllen, Millar, John, DerOhannessian, Stephanie, Unit, The UPenn Covid Processing, Frank, Ian, Rader, Daniel J, Wherry, E John, Hensley, Scott E
Published in JCI insight (23.08.2021)
Published in JCI insight (23.08.2021)
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ATP-Binding Cassette Transporter A1 Deficiency in Human Induced Pluripotent Stem Cell-Derived Hepatocytes Abrogates HDL Biogenesis and Enhances Triglyceride Secretion
Bi, Xin, Pashos, Evanthia E., Cuchel, Marina, Lyssenko, Nicholas N., Hernandez, Mayda, Picataggi, Antonino, McParland, James, Yang, Wenli, Liu, Ying, Yan, Ruilan, Yu, Christopher, DerOhannessian, Stephanie L., Phillips, Michael C., Morrisey, Edward E., Duncan, Stephen A., Rader, Daniel J.
Published in EBioMedicine (01.04.2017)
Published in EBioMedicine (01.04.2017)
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Dense Genotyping of Candidate Gene Loci Identifies Variants Associated With High-Density Lipoprotein Cholesterol
Edmondson, Andrew C, Braund, Peter S, Stylianou, Ioannis M, Khera, Amit V, Nelson, Christopher P, Wolfe, Megan L, DerOhannessian, Stephanie L, Keating, Brendan J, Qu, Liming, He, Jing, Tobin, Martin D, Tomaszewski, Maciej, Baumert, Jens, Klopp, Norman, Döring, Angela, Thorand, Barbara, Li, Mingyao, Reilly, Muredach P, Koenig, Wolfgang, Samani, Nilesh J, Rader, Daniel J
Published in Circulation. Cardiovascular genetics (01.04.2011)
Published in Circulation. Cardiovascular genetics (01.04.2011)
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Challenges in Interpreting Genetic Reports in Familial Hypercholesterolemia: Variants of Uncertain Significance
Ueda, Masako, MD, Ajufo, Ezim, BM, BCh, Dilzell, Kristen, MS, CGC, Sikora, Tracey, BS, Raper, Anna, MS, CGC, DerOhannessian, Stephanie, MS, Cuchel, Marina, MD, PhD, deGoma, Emil, Rader, Daniel, MD
Published in Journal of clinical lipidology (01.05.2017)
Published in Journal of clinical lipidology (01.05.2017)
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Familial Chylomicron Syndrome: Importance of Discerning the Rare Among the Common
Ueda, Masako, MD, Burke, Frances, MS, RD, Walters, Laura, BS, Lalic, Dusanka, BS, Sikora, Tracey, BS, Greene, Harley, DerOhannessian, Stephanie, MS, McIntyre, Adam, BSc, deGoma, Emil, MD, Hegele, Robert, MD, Rader, Daniel, MD, Dunbar, Richard, MD
Published in Journal of clinical lipidology (01.05.2017)
Published in Journal of clinical lipidology (01.05.2017)
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The Majority of Outpatients With Severe Hypercholesterolemia at an Academic Tertiary Centre Have Not Been Screened for FH
Ajufo, Ezim, BM, BCh, Ueda, Masako, MD, Hossain, Erik, BS, Sikora, Tracey, BS, Damrauer, Scott, MD, deGoma, Emil, MD, Dilzell, Kristen, MS, CGC, DerOhannessian, Stephanie, MS, Cuchel, Marina, MD, PhD, Rader, Daniel, MD
Published in Journal of clinical lipidology (01.05.2017)
Published in Journal of clinical lipidology (01.05.2017)
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An Electronic Health Records Query for Severe Hypercholesterolemia Identifies Individuals With Undiagnosed Clinical and Molecular FH at a Tertiary Academic Centre
Ajufo, Ezim, BM, BCh, Ueda, Masako, MD, Sikora, Tracey, BS, deGoma, Emil, MD, Dilzell, Kristen, MS CGC, Raper, Anna, MS, CGC, DerOhannessian, Stephanie, MS, Hossain, Erik, BS, Cuchel, Marina, MD, PhD, Rader, Daniel, MD
Published in Journal of clinical lipidology (01.05.2017)
Published in Journal of clinical lipidology (01.05.2017)
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Translational Studies of Lipoprotein-Associated Phospholipase A2 in Inflammation and Atherosclerosis
Ferguson, Jane F., PhD, Hinkle, Christine C., MS, Mehta, Nehal N., MD, Bagheri, Roshanak, MD, DerOhannessian, Stephanie L., MS, Shah, Rhia, BS, Mucksavage, Megan I., MS, Bradfield, Jonathan P., BS, Hakonarson, Hakon, PhD, Wang, Xuexia, PhD, Master, Stephen R., MD, Rader, Daniel J., MD, Li, Mingyao, PhD, Reilly, Muredach P., MB
Published in Journal of the American College of Cardiology (21.02.2012)
Published in Journal of the American College of Cardiology (21.02.2012)
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SARS-CoV-2 infections elicit higher levels of original antigenic sin antibodies compared with SARS-CoV-2 mRNA vaccinations
Anderson, Elizabeth M., Li, Shuk Hang, Awofolaju, Moses, Eilola, Theresa, Goodwin, Eileen, Bolton, Marcus J., Gouma, Sigrid, Manzoni, Tomaz B., Hicks, Philip, Goel, Rishi R., Painter, Mark M., Apostolidis, Sokratis A., Mathew, Divij, Dunbar, Debora, Fiore, Danielle, Brock, Amanda, Weaver, JoEllen, Millar, John S., DerOhannessian, Stephanie, Greenplate, Allison R., Frank, Ian, Rader, Daniel J., Wherry, E. John, Bates, Paul, Hensley, Scott E.
Published in Cell reports (Cambridge) (18.10.2022)
Published in Cell reports (Cambridge) (18.10.2022)
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A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis
Ueda, Masako, Dunbar, Richard L., Wolska, Anna, Sikora, Tracey U., Escobar, Maria del Rosario, Seliktar, Naomi, deGoma, Emil, DerOhannessian, Stephanie, Morrell, Linda, McIntyre, Adam D., Burke, Frances, Sviridov, Denis, Amar, Marcelo, Shamburek, Robert D., Freeman, Lita, Hegele, Robert A., Remaley, Alan T., Rader, Daniel J.
Published in The journal of clinical endocrinology and metabolism (01.05.2017)
Published in The journal of clinical endocrinology and metabolism (01.05.2017)
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CT imaging-derived phenotypes for abdominal muscle and their association with age and sex in a medical biobank
Vu, Phuong T., Chahine, Chantal, Chatterjee, Neil, MacLean, Matthew T., Swago, Sophia, Bhattaru, Abhi, Thompson, Elizabeth W., Ikhlas, Anooshey, Oteng, Edith, Davidson, Lauren, Tran, Richard, Hazim, Mohamad, Raghupathy, Pavan, Verma, Anurag, Duda, Jeffrey, Gee, James, Luks, Valerie, Gershuni, Victoria, Wu, Gary, Rader, Daniel, Sagreiya, Hersh, Witschey, Walter R., Rader, Daniel J., Ritchie, Marylyn D., Weaver, JoEllen, Naseer, Nawar, Poindexter, Afiya, Hu-Sain, Khadijah, Ko, Yi-An, Livingstone, Meghan, Vadivieso, Fred, DerOhannessian, Stephanie, Tran, Teo, Stephanowski, Julia, Zielinski, Monica, Haubein, Ned, Dunn, Joseph, Kripke, Colleen Morse, Risman, Marjorie, Judy, Renae, Verma, Shefali S., Bradford, Yuki, Dudek, Scott, Drivas, Theodore
Published in Scientific reports (26.06.2024)
Published in Scientific reports (26.06.2024)
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Clinical correlates of CT imaging-derived phenotypes among lean and overweight patients with hepatic steatosis
Song, Isabel, Thompson, Elizabeth W, Verma, Anurag, MacLean, Matthew T, Duda, Jeffrey, Elahi, Ameena, Tran, Richard, Raghupathy, Pavan, Swago, Sophia, Hazim, Mohamad, Bhattaru, Abhijit, Schneider, Carolin, Vujkovic, Marijana, Torigian, Drew A, Kahn, Charles E, Gee, James C, Borthakur, Arijitt, Kripke, Colleen M, Carson, Christopher C, Carr, Rotonya, Jehangir, Qasim, Ko, Yi-An, Litt, Harold, Rosen, Mark, Mankoff, David A, Schnall, Mitchell D, Shou, Haochang, Chirinos, Julio, Damrauer, Scott M, Serper, Marina, Chen, Jinbo, Rader, Daniel J, Witschey, Walter R T, Sagreiya, Hersh
Published in Scientific reports (02.01.2024)
Published in Scientific reports (02.01.2024)
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Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks
Yun, Jae-Seung, Jung, Sang-Hyuk, Lee, Su-Nam, Jung, Seung Min, Won, Hong-Hee, Kim, Dokyoon, Choi, Jin A
Published in Journal of translational medicine (15.04.2024)
Published in Journal of translational medicine (15.04.2024)
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Genetic coding variants in the niacin receptor, hydroxyl-carboxylic acid receptor 2, and response to niacin therapy
Tuteja, Sony, Wang, Lu, Dunbar, Richard L, Chen, Jinbo, DerOhannessian, Stephanie, Marcovina, Santica M, Elam, Marshall, Lader, Ellis, Rader, Daniel J
Published in Pharmacogenetics and genomics (01.08.2017)
Published in Pharmacogenetics and genomics (01.08.2017)
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Abstract 435: An Electronic Health Records Query for Severe Hypercholesterolemia Identifies Individuals With Undiagnosed Clinical and Molecular FH at a Tertiary Academic Centre
Ajufo, Ezim, Ueda, Masako, Sikora, Tracey, deGoma, Emil M, Dilzell, Kristen, Raper, Anna, DerOhannessian, Stephanie, Hossain, Erik, Mucksavage, Megan L, Cuchel, Marina, Rader, Daniel J
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2017)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2017)
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Abstract 434: The Majority of Outpatients With Severe Hypercholesterolemia at an Academic Tertiary Centre Have Not Been Screened for FH
Ajufo, Ezim, Ueda, Masako, Hossain, Erik, Sikora, Tracey, Damrauer, Scott M, deGoma, Emil M, Dilzell, Kristen, DerOhannessian, Stephanie, Cuchel, Marina, Rader, Daniel J
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2017)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2017)
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