721 results on '"Carey, David J."'
Search Results
2. Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes
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Huerta-Chagoya, Alicia, Schroeder, Philip, Mandla, Ravi, Li, Jiang, Morris, Lowri, Vora, Maheak, Alkanaq, Ahmed, Nagy, Dorka, Szczerbinski, Lukasz, Madsen, Jesper G. S., Bonàs-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, Inês, Mirshahi, Uyenlinh L., Manning, Alisa K., Leong, Aaron, Udler, Miriam, and Mercader, Josep M.
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- 2024
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3. Genetic risk factors for COVID-19 and influenza are largely distinct
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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., and Ferreira, Manuel A. R.
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- 2024
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4. Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis
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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., and Braithwaite, Tasanee
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- 2024
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5. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
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Ghouse, Jonas, Sveinbjörnsson, Gardar, Vujkovic, Marijana, Seidelin, Anne-Sofie, Gellert-Kristensen, Helene, Ahlberg, Gustav, Tragante, Vinicius, Rand, Søren A., Brancale, Joseph, Vilarinho, Silvia, Lundegaard, Pia Rengtved, Sørensen, Erik, Erikstrup, Christian, Bruun, Mie Topholm, Jensen, Bitten Aagaard, Brunak, Søren, 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, Mägi, Reedik, Kozlitina, Julia, Tybjærg-Hansen, Anne, Jones, David, Knowlton, Kirk U., Nadauld, Lincoln, Ferkingstad, Egil, Björnsson, Einar S., Ulfarsson, Magnus O., Sturluson, Árni, Sulem, Patrick, Pedersen, Ole B., Ostrowski, Sisse R., Gudbjartsson, Daniel F., Stefansson, Kari, Olesen, Morten Salling, Chang, Kyong-Mi, Holm, Hilma, Bundgaard, Henning, and Stender, Stefan
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- 2024
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6. Publisher Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes
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Huerta-Chagoya, Alicia, Schroeder, Philip, Mandla, Ravi, Li, Jiang, Morris, Lowri, Vora, Maheak, Alkanaq, Ahmed, Nagy, Dorka, Szczerbinski, Lukasz, Madsen, Jesper G. S., Bonàs-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, Inês, Mirshahi, Uyenlinh L., Manning, Alisa K., Leong, Aaron, Udler, Miriam, and Mercader, Josep M.
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- 2024
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7. Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
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de Andrade, Kelvin C., Strande, Natasha T., Kim, Jung, Haley, Jeremy S., Hatton, Jessica N., Frone, Megan N., Khincha, Payal P., Thone, Gretchen M., Mirshahi, Uyenlinh L., Schneider, Cynthia, Desai, Heena, Dove, James T., Smelser, Diane T., Levine, Arnold J., Maxwell, Kara N., Stewart, Douglas R., Carey, David J., and Savage, Sharon A.
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- 2024
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8. A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts
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Kim, Jung, Haley, Jeremy, Hatton, Jessica N., Mirshahi, Uyenlinh L., Rao, H. Shanker, Ramos, Mark F., Smelser, Diane, Urban, Gretchen M., Schultz, Kris Ann P., Carey, David J., and Stewart, Douglas R.
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- 2024
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9. Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity
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Akbari, Parsa, Gilani, Ankit, Sosina, Olukayode, Kosmicki, Jack A, Khrimian, Lori, Fang, Yi-Ya, Persaud, Trikaldarshi, Garcia, Victor, Sun, Dylan, Li, Alexander, Mbatchou, Joelle, Locke, Adam E, Benner, Christian, Verweij, Niek, Lin, Nan, Hossain, Sakib, Agostinucci, Kevin, Pascale, Jonathan V, Dirice, Ercument, Dunn, Michael, Center‡, Regeneron Genetics, Collaboration‡, DiscovEHR, Kraus, William E, Shah, Svati H, Chen, Yii-Der I, Rotter, Jerome I, Rader, Daniel J, Melander, Olle, Still, Christopher D, Mirshahi, Tooraj, Carey, David J, Berumen-Campos, Jaime, Kuri-Morales, Pablo, Alegre-Díaz, Jesus, Torres, Jason M, Emberson, Jonathan R, Collins, Rory, Balasubramanian, Suganthi, Hawes, Alicia, Jones, Marcus, Zambrowicz, Brian, Murphy, Andrew J, Paulding, Charles, Coppola, Giovanni, Overton, John D, Reid, Jeffrey G, Shuldiner, Alan R, Cantor, Michael, Kang, Hyun M, Abecasis, Goncalo R, Karalis, Katia, Economides, Aris N, Marchini, Jonathan, Yancopoulos, George D, Sleeman, Mark W, Altarejos, Judith, Della Gatta, Giusy, Tapia-Conyer, Roberto, Schwartzman, Michal L, Baras, Aris, Ferreira, Manuel AR, and Lotta, Luca A
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Prevention ,Human Genome ,Nutrition ,Genetics ,Obesity ,Aetiology ,2.1 Biological and endogenous factors ,Metabolic and endocrine ,Stroke ,Oral and gastrointestinal ,Cardiovascular ,Animals ,Body Mass Index ,Exome ,Genetic Variation ,Humans ,Mice ,Mice ,Knockout ,Receptors ,G-Protein-Coupled ,Sequence Analysis ,DNA ,Weight Gain ,Regeneron Genetics Center ,DiscovEHR Collaboration ,General Science & Technology - Abstract
Large-scale human exome sequencing can identify rare protein-coding variants with a large impact on complex traits such as body adiposity. We sequenced the exomes of 645,626 individuals from the United Kingdom, the United States, and Mexico and estimated associations of rare coding variants with body mass index (BMI). We identified 16 genes with an exome-wide significant association with BMI, including those encoding five brain-expressed G protein-coupled receptors (CALCR, MC4R, GIPR, GPR151, and GPR75). Protein-truncating variants in GPR75 were observed in ~4/10,000 sequenced individuals and were associated with 1.8 kilograms per square meter lower BMI and 54% lower odds of obesity in the heterozygous state. Knock out of Gpr75 in mice resulted in resistance to weight gain and improved glycemic control in a high-fat diet model. Inhibition of GPR75 may provide a therapeutic strategy for obesity.
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- 2021
10. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.
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Shah, Sonia, Henry, Albert, Roselli, Carolina, Lin, Honghuang, Sveinbjörnsson, Garðar, Fatemifar, Ghazaleh, Hedman, Åsa K, Wilk, Jemma B, Morley, Michael P, Chaffin, Mark D, Helgadottir, Anna, Verweij, Niek, Dehghan, Abbas, Almgren, Peter, Andersson, Charlotte, Aragam, Krishna G, Ärnlöv, Johan, Backman, Joshua D, Biggs, Mary L, Bloom, Heather L, Brandimarto, Jeffrey, Brown, Michael R, Buckbinder, Leonard, Carey, David J, Chasman, Daniel I, Chen, Xing, Chen, Xu, Chung, Jonathan, Chutkow, William, Cook, James P, Delgado, Graciela E, Denaxas, Spiros, Doney, Alexander S, Dörr, Marcus, Dudley, Samuel C, Dunn, Michael E, Engström, Gunnar, Esko, Tõnu, Felix, Stephan B, Finan, Chris, Ford, Ian, Ghanbari, Mohsen, Ghasemi, Sahar, Giedraitis, Vilmantas, Giulianini, Franco, Gottdiener, John S, Gross, Stefan, Guðbjartsson, Daníel F, Gutmann, Rebecca, Haggerty, Christopher M, van der Harst, Pim, Hyde, Craig L, Ingelsson, Erik, Jukema, J Wouter, Kavousi, Maryam, Khaw, Kay-Tee, Kleber, Marcus E, Køber, Lars, Koekemoer, Andrea, Langenberg, Claudia, Lind, Lars, Lindgren, Cecilia M, London, Barry, Lotta, Luca A, Lovering, Ruth C, Luan, Jian'an, Magnusson, Patrik, Mahajan, Anubha, Margulies, Kenneth B, März, Winfried, Melander, Olle, Mordi, Ify R, Morgan, Thomas, Morris, Andrew D, Morris, Andrew P, Morrison, Alanna C, Nagle, Michael W, Nelson, Christopher P, Niessner, Alexander, Niiranen, Teemu, O'Donoghue, Michelle L, Owens, Anjali T, Palmer, Colin NA, Parry, Helen M, Perola, Markus, Portilla-Fernandez, Eliana, Psaty, Bruce M, Regeneron Genetics Center, Rice, Kenneth M, Ridker, Paul M, Romaine, Simon PR, Rotter, Jerome I, Salo, Perttu, Salomaa, Veikko, van Setten, Jessica, Shalaby, Alaa A, Smelser, Diane T, Smith, Nicholas L, Stender, Steen, and Stott, David J
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Regeneron Genetics Center ,Humans ,Atrial Fibrillation ,Cardiomyopathies ,Microfilament Proteins ,Adaptor Proteins ,Signal Transducing ,Carrier Proteins ,Muscle Proteins ,Risk Factors ,Case-Control Studies ,Ventricular Function ,Left ,Cyclin-Dependent Kinase Inhibitor p21 ,Apoptosis Regulatory Proteins ,Coronary Artery Disease ,Heart Failure ,Genome-Wide Association Study ,Mendelian Randomization Analysis ,Adaptor Proteins ,Signal Transducing ,Ventricular Function ,Left - Abstract
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.
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- 2020
11. Pharmacologic and Genetic Downregulation of Proprotein Convertase Subtilisin/Kexin Type 9 and Survival From Sepsis
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Lawler, Patrick R., Manvelian, Garen, Coppi, Alida, Damask, Amy, Cantor, Michael N., Ferreira, Manuel A. R., Paulding, Charles, Banerjee, Nilanjana, Li, Dadong, Jorgensen, Susan, Attre, Richa, Carey, David J., Krebs, Kristi, Milani, Lili, Hveem, Kristian, Damås, Jan K., Solligård, Erik, Stender, Stefan, Tybjærg-Hansen, Anne, Nordestgaard, Børge G., Hernandez-Beeftink, Tamara, Rogne, Tormod, Flores, Carlos, Villar, Jesús, Walley, Keith R., Liu, Vincent X., Fohner, Alison E., Lotta, Luca A., Kyratsous, Christos A., Sleeman, Mark W., Scemama, Michel, DelGizzi, Richard, Pordy, Robert, Horowitz, Julie E., Baras, Aris, Martin, Greg S., Steg, Philippe Gabriel, Schwartz, Gregory G., Szarek, Michael, and Goodman, Shaun G.
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- 2023
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12. Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor
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Fraire, Claudette R., Mallinger, Paige R., Hatton, Jessica N., Kim, Jung, Dickens, David S., Argenta, Peter A., Milanovich, Samuel, Hartshorne, Taylor, Carey, David J., Haley, Jeremy S., Urban, Gretchen, Lee, Jeon, Hill, D. Ashley, Stewart, Douglas R., Schultz, Kris Ann P., and Chen, Kenneth S.
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- 2023
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13. Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification
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Mirshahi, Uyenlinh L., Bhan, Ahana, Tholen, Lotte E., Fang, Brian, Chen, Guoli, Moore, Bryn, Cook, Adam, Anand, Prince Mohan, Patel, Kashyap, Haas, Mary E., Lotta, Luca A., Igarashi, Peter, de Baaij, Jeroen H.F., Ferrè, Silvia, Hoenderop, Joost G.J., Carey, David J., and Chang, Alexander R.
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- 2022
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14. Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
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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., and Ferreira, Manuel A. R.
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- 2022
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15. Predicting mortality among ischemic stroke patients using pathways-derived polygenic risk scores
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Li, Jiang, Chaudhary, Durgesh, Griessenauer, Christoph J., Carey, David J., Zand, Ramin, and Abedi, Vida
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- 2022
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16. Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
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Akbari, Parsa, Sosina, Olukayode A., Bovijn, Jonas, Landheer, Karl, Nielsen, Jonas B., Kim, Minhee, Aykul, Senem, De, Tanima, Haas, Mary E., Hindy, George, Lin, Nan, Dinsmore, Ian R., Luo, Jonathan Z., Hectors, Stefanie, Geraghty, Benjamin, Germino, Mary, Panagis, Lampros, Parasoglou, Prodromos, Walls, Johnathon R., Halasz, Gabor, Atwal, Gurinder S., Jones, Marcus, LeBlanc, Michelle G., Still, Christopher D., Carey, David J., Giontella, Alice, Orho-Melander, Marju, Berumen, Jaime, Kuri-Morales, Pablo, Alegre-Díaz, Jesus, Torres, Jason M., Emberson, Jonathan R., Collins, Rory, Rader, Daniel J., Zambrowicz, Brian, Murphy, Andrew J., Balasubramanian, Suganthi, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan R., Cantor, Michael, Abecasis, Goncalo R., Ferreira, Manuel A. R., Sleeman, Mark W., Gusarova, Viktoria, Altarejos, Judith, Harris, Charles, Economides, Aris N., Idone, Vincent, Karalis, Katia, Della Gatta, Giusy, Mirshahi, Tooraj, Yancopoulos, George D., Melander, Olle, Marchini, Jonathan, Tapia-Conyer, Roberto, Locke, Adam E., Baras, Aris, Verweij, Niek, and Lotta, Luca A.
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- 2022
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17. Association of varicose veins with rare protein-truncating variants in PIEZO1 identified by exome sequencing of a large clinical population
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Smelser, Diane T., Haley, Jeremy S., Ryer, Evan J., Elmore, James R., Cook, Adam M., and Carey, David J.
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- 2022
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18. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
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Turcot, Valérie, Lu, Yingchang, Highland, Heather M, Schurmann, Claudia, Justice, Anne E, Fine, Rebecca S, Bradfield, Jonathan P, Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E, Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E, Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L, Alfred, Tamuno, Feitosa, Mary F, Masca, Nicholas GD, Manning, Alisa K, Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie CY, Reiner, Alex P, Vedantam, Sailaja, Willems, Sara M, Winkler, Thomas W, Abecasis, Gonçalo, Aben, Katja K, Alam, Dewan S, Alharthi, Sameer E, Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W, Auer, Paul L, Balkau, Beverley, Bang, Lia E, Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F, Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A, Bork-Jensen, Jette, Bots, Michiel L, Bottinger, Erwin P, Bowden, Donald W, Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H, Broer, Linda, Brumat, Marco, Burt, Amber A, Butterworth, Adam S, Campbell, Peter T, Cappellani, Stefania, Carey, David J, Catamo, Eulalia, Caulfield, Mark J, Chambers, John C, Chasman, Daniel I, Chen, Yii-Der I, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y, Cocca, Massimiliano, Collins, Francis S, Cook, James P, Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J, Crosslin, David S, Cuellar-Partida, Gabriel, D'Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul IW, Groot, Mark CH, Mutsert, Renée, Deary, Ian J, Dedoussis, George, Demerath, Ellen W, Heijer, Martin, Hollander, Anneke I, Ruijter, Hester M, Dennis, Joe G, Denny, Josh C, Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M, and Easton, Douglas F
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CHD Exome+ Consortium ,EPIC-CVD Consortium ,ExomeBP Consortium ,Global Lipids Genetic Consortium ,GoT2D Genes Consortium ,EPIC InterAct Consortium ,INTERVAL Study ,ReproGen Consortium ,T2D-Genes Consortium ,MAGIC Investigators ,Understanding Society Scientific Group ,Nutrition ,Obesity ,Developmental Biology ,Medical and Health Sciences ,Biological Sciences - Abstract
In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA) was incorrectly assigned to author Wei Zhou. The errors have been corrected in the HTML and PDF versions of the article.
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- 2018
19. Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
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Gusarova, Viktoria, O’Dushlaine, Colm, Teslovich, Tanya M, Benotti, Peter N, Mirshahi, Tooraj, Gottesman, Omri, Van Hout, Cristopher V, Murray, Michael F, Mahajan, Anubha, Nielsen, Jonas B, Fritsche, Lars, Wulff, Anders Berg, Gudbjartsson, Daniel F, Sjögren, Marketa, Emdin, Connor A, Scott, Robert A, Lee, Wen-Jane, Small, Aeron, Kwee, Lydia C, Dwivedi, Om Prakash, Prasad, Rashmi B, Bruse, Shannon, Lopez, Alexander E, Penn, John, Marcketta, Anthony, Leader, Joseph B, Still, Christopher D, Kirchner, H Lester, Mirshahi, Uyenlinh L, Wardeh, Amr H, Hartle, Cassandra M, Habegger, Lukas, Fetterolf, Samantha N, Tusie-Luna, Teresa, Morris, Andrew P, Holm, Hilma, Steinthorsdottir, Valgerdur, Sulem, Patrick, Thorsteinsdottir, Unnur, Rotter, Jerome I, Chuang, Lee-Ming, Damrauer, Scott, Birtwell, David, Brummett, Chad M, Khera, Amit V, Natarajan, Pradeep, Orho-Melander, Marju, Flannick, Jason, Lotta, Luca A, Willer, Cristen J, Holmen, Oddgeir L, Ritchie, Marylyn D, Ledbetter, David H, Murphy, Andrew J, Borecki, Ingrid B, Reid, Jeffrey G, Overton, John D, Hansson, Ola, Groop, Leif, Shah, Svati H, Kraus, William E, Rader, Daniel J, Chen, Yii-Der I, Hveem, Kristian, Wareham, Nicholas J, Kathiresan, Sekar, Melander, Olle, Stefansson, Kari, Nordestgaard, Børge G, Tybjærg-Hansen, Anne, Abecasis, Goncalo R, Altshuler, David, Florez, Jose C, Boehnke, Michael, McCarthy, Mark I, Yancopoulos, George D, Carey, David J, Shuldiner, Alan R, Baras, Aris, Dewey, Frederick E, and Gromada, Jesper
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Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Diabetes ,Atherosclerosis ,Cardiovascular ,Metabolic and endocrine ,Amino Acid Substitution ,Angiopoietin-Like Protein 4 ,Animals ,Blood Glucose ,Case-Control Studies ,Diabetes Mellitus ,Type 2 ,Female ,Gene Silencing ,Genetic Association Studies ,Genetic Variation ,Heterozygote ,Homeostasis ,Humans ,Insulin Resistance ,Lipoprotein Lipase ,Male ,Mice ,Mice ,Inbred C57BL ,Mice ,Knockout ,Risk Factors ,Exome Sequencing - Abstract
Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeostasis and decrease risk of type 2 diabetes (T2D). We investigate protein-altering variants in ANGPTL4 among 58,124 participants in the DiscovEHR human genetics study, with follow-up studies in 82,766 T2D cases and 498,761 controls. Carriers of p.E40K, a variant that abolishes ANGPTL4 ability to inhibit lipoprotein lipase, have lower odds of T2D (odds ratio 0.89, 95% confidence interval 0.85-0.92, p = 6.3 × 10-10), lower fasting glucose, and greater insulin sensitivity. Predicted loss-of-function variants are associated with lower odds of T2D among 32,015 cases and 84,006 controls (odds ratio 0.71, 95% confidence interval 0.49-0.99, p = 0.041). Functional studies in Angptl4-deficient mice confirm improved insulin sensitivity and glucose homeostasis. In conclusion, genetic inactivation of ANGPTL4 is associated with improved glucose homeostasis and reduced risk of T2D.
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- 2018
20. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
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Turcot, Valérie, Lu, Yingchang, Highland, Heather M, Schurmann, Claudia, Justice, Anne E, Fine, Rebecca S, Bradfield, Jonathan P, Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E, Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E, Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L, Alfred, Tamuno, Feitosa, Mary F, Masca, Nicholas GD, Manning, Alisa K, Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie CY, Reiner, Alex P, Vedantam, Sailaja, Willems, Sara M, Winkler, Thomas W, Abecasis, Gonçalo, Aben, Katja K, Alam, Dewan S, Alharthi, Sameer E, Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W, Auer, Paul L, Balkau, Beverley, Bang, Lia E, Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F, Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A, Bork-Jensen, Jette, Bots, Michiel L, Bottinger, Erwin P, Bowden, Donald W, Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H, Broer, Linda, Brumat, Marco, Burt, Amber A, Butterworth, Adam S, Campbell, Peter T, Cappellani, Stefania, Carey, David J, Catamo, Eulalia, Caulfield, Mark J, Chambers, John C, Chasman, Daniel I, Chen, Yii-Der I, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y, Cocca, Massimiliano, Collins, Francis S, Cook, James P, Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J, Crosslin, David S, Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul IW, Groot, Mark CH, Mutsert, Renée, Deary, Ian J, Dedoussis, George, Demerath, Ellen W, Heijer, Martin, Hollander, Anneke I, Ruijter, Hester M, Dennis, Joe G, Denny, Josh C, Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M, and Easton, Douglas F
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Genetics ,Biotechnology ,Nutrition ,Obesity ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Cancer ,Stroke ,Metabolic and endocrine ,Cardiovascular ,Oral and gastrointestinal ,Adult ,Animals ,Body Mass Index ,Drosophila ,Energy Intake ,Energy Metabolism ,Female ,Gene Frequency ,Genetic Variation ,Humans ,Male ,Proteins ,Syndrome ,CHD Exome+ Consortium ,EPIC-CVD Consortium ,ExomeBP Consortium ,Global Lipids Genetic Consortium ,GoT2D Genes Consortium ,EPIC InterAct Consortium ,INTERVAL Study ,ReproGen Consortium ,T2D-Genes Consortium ,MAGIC Investigators ,Understanding Society Scientific Group ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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- 2018
21. A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid and other phenotypes in two population-scale cohorts
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Kim, Jung, primary, Haley, Jeremy, additional, Hatton, Jessica N., additional, Mirshahi, Uyenlinh L., additional, Rao, H. Shanker, additional, Ramos, Mark F., additional, Smelser, Diane, additional, Urban, Gretchen, additional, Schultz, Kris Ann P., additional, Carey, David J., additional, and Stewart, Douglas R., additional
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- 2024
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22. Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study
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Deng, Joseph, primary, Altintas, Burak, additional, Haley, Jeremy S., additional, Kim, Jung, additional, Ramos, Mark, additional, Carey, David J., additional, Stewart, Douglas R., additional, and McReynolds, Lisa J., additional
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- 2024
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23. Role of A-kinase anchoring proteins in cyclic-AMP-mediated Schwann cell proliferation
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Asirvatham, Angela L., Schworer, Charles M., Stahl, Rick, Heitzman, Deborah, and Carey, David J.
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- 2021
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24. Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease
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Dewey, Frederick E, Gusarova, Viktoria, Dunbar, Richard L, O'Dushlaine, Colm, Schurmann, Claudia, Gottesman, Omri, McCarthy, Shane, Van Hout, Cristopher V, Bruse, Shannon, Dansky, Hayes M, Leader, Joseph B, Murray, Michael F, Ritchie, Marylyn D, Kirchner, H Lester, Habegger, Lukas, Lopez, Alex, Penn, John, Zhao, An, Shao, Weiping, Stahl, Neil, Murphy, Andrew J, Hamon, Sara, Bouzelmat, Aurelie, Zhang, Rick, Shumel, Brad, Pordy, Robert, Gipe, Daniel, Herman, Gary A, Sheu, Wayne HH, Lee, I-Te, Liang, Kae-Woei, Guo, Xiuqing, Rotter, Jerome I, Chen, Yii-Der I, Kraus, William E, Shah, Svati H, Damrauer, Scott, Small, Aeron, Rader, Daniel J, Wulff, Anders Berg, Nordestgaard, Børge G, Tybjærg-Hansen, Anne, van den Hoek, Anita M, Princen, Hans MG, Ledbetter, David H, Carey, David J, Overton, John D, Reid, Jeffrey G, Sasiela, William J, Banerjee, Poulabi, Shuldiner, Alan R, Borecki, Ingrid B, Teslovich, Tanya M, Yancopoulos, George D, Mellis, Scott J, Gromada, Jesper, and Baras, Aris
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Genetics ,Heart Disease ,Clinical Research ,Atherosclerosis ,Heart Disease - Coronary Heart Disease ,Cardiovascular ,Aetiology ,2.1 Biological and endogenous factors ,Good Health and Well Being ,Aged ,Angiopoietin-Like Protein 3 ,Angiopoietin-like Proteins ,Angiopoietins ,Animals ,Antibodies ,Monoclonal ,Cardiovascular Diseases ,Coronary Artery Disease ,Disease Models ,Animal ,Dose-Response Relationship ,Drug ,Double-Blind Method ,Dyslipidemias ,Female ,Humans ,Lipid Metabolism ,Lipids ,Male ,Mice ,Mice ,Inbred Strains ,Middle Aged ,Mutation ,Medical and Health Sciences ,General & Internal Medicine - Abstract
BackgroundLoss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol. It is not known whether such variants or therapeutic antagonism of ANGPTL3 are associated with a reduced risk of atherosclerotic cardiovascular disease.MethodsWe sequenced the exons of ANGPTL3 in 58,335 participants in the DiscovEHR human genetics study. We performed tests of association for loss-of-function variants in ANGPTL3 with lipid levels and with coronary artery disease in 13,102 case patients and 40,430 controls from the DiscovEHR study, with follow-up studies involving 23,317 case patients and 107,166 controls from four population studies. We also tested the effects of a human monoclonal antibody, evinacumab, against Angptl3 in dyslipidemic mice and against ANGPTL3 in healthy human volunteers with elevated levels of triglycerides or LDL cholesterol.ResultsIn the DiscovEHR study, participants with heterozygous loss-of-function variants in ANGPTL3 had significantly lower serum levels of triglycerides, HDL cholesterol, and LDL cholesterol than participants without these variants. Loss-of-function variants were found in 0.33% of case patients with coronary artery disease and in 0.45% of controls (adjusted odds ratio, 0.59; 95% confidence interval, 0.41 to 0.85; P=0.004). These results were confirmed in the follow-up studies. In dyslipidemic mice, inhibition of Angptl3 with evinacumab resulted in a greater decrease in atherosclerotic lesion area and necrotic content than a control antibody. In humans, evinacumab caused a dose-dependent placebo-adjusted reduction in fasting triglyceride levels of up to 76% and LDL cholesterol levels of up to 23%.ConclusionsGenetic and therapeutic antagonism of ANGPTL3 in humans and of Angptl3 in mice was associated with decreased levels of all three major lipid fractions and decreased odds of atherosclerotic cardiovascular disease. (Funded by Regeneron Pharmaceuticals and others; ClinicalTrials.gov number, NCT01749878 .).
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- 2017
25. Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease
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Nomura, Akihiro, Won, Hong-Hee, Khera, Amit V, Takeuchi, Fumihiko, Ito, Kaoru, McCarthy, Shane, Emdin, Connor A, Klarin, Derek, Natarajan, Pradeep, Zekavat, Seyedeh M, Gupta, Namrata, Peloso, Gina M, Borecki, Ingrid B, Teslovich, Tanya M, Asselta, Rosanna, Duga, Stefano, Merlini, Piera A, Correa, Adolfo, Kessler, Thorsten, Wilson, James G, Bown, Matthew J, Hall, Alistair S, Braund, Peter S, Carey, David J, Murray, Michael F, Kirchner, H Lester, Leader, Joseph B, Lavage, Daniel R, Manus, J Neil, Hartze, Dustin N, Samani, Nilesh J, Schunkert, Heribert, Marrugat, Jaume, Elosua, Roberto, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Juang, Jyh-Ming J, Hsiung, Chao A, Lin, Shih-Yi, Wang, Jun-Sing, Tada, Hayato, Kawashiri, Masa-Aki, Inazu, Akihiro, Yamagishi, Masakazu, Katsuya, Tomohiro, Nakashima, Eitaro, Nakatochi, Masahiro, Yamamoto, Ken, Yokota, Mitsuhiro, Momozawa, Yukihide, Rotter, Jerome I, Lander, Eric S, Rader, Daniel J, Danesh, John, Ardissino, Diego, Gabriel, Stacey, Willer, Cristen J, Abecasis, Goncalo R, Saleheen, Danish, Kubo, Michiaki, Kato, Norihiro, Ida Chen, Yii-Der, Dewey, Frederick E, and Kathiresan, Sekar
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Biomedical and Clinical Sciences ,Cardiovascular Medicine and Haematology ,Clinical Sciences ,Genetics ,Cardiovascular ,Heart Disease ,Atherosclerosis ,Heart Disease - Coronary Heart Disease ,Adult ,Aged ,Case-Control Studies ,Cholesterol Ester Transfer Proteins ,Coronary Disease ,Female ,Genetic Variation ,Humans ,Male ,Middle Aged ,Risk Factors ,case-control studies ,cholesteryl ester transfer protein ,coronary disease ,lipids ,Cardiorespiratory Medicine and Haematology ,Cardiovascular System & Hematology ,Cardiovascular medicine and haematology ,Clinical sciences - Abstract
RationaleTherapies that inhibit CETP (cholesteryl ester transfer protein) have failed to demonstrate a reduction in risk for coronary heart disease (CHD). Human DNA sequence variants that truncate the CETP gene may provide insight into the efficacy of CETP inhibition.ObjectiveTo test whether protein-truncating variants (PTVs) at the CETP gene were associated with plasma lipid levels and CHD.Methods and resultsWe sequenced the exons of the CETP gene in 58 469 participants from 12 case-control studies (18 817 CHD cases, 39 652 CHD-free controls). We defined PTV as those that lead to a premature stop, disrupt canonical splice sites, or lead to insertions/deletions that shift frame. We also genotyped 1 Japanese-specific PTV in 27561 participants from 3 case-control studies (14 286 CHD cases, 13 275 CHD-free controls). We tested association of CETP PTV carrier status with both plasma lipids and CHD. Among 58 469 participants with CETP gene-sequencing data available, average age was 51.5 years and 43% were women; 1 in 975 participants carried a PTV at the CETP gene. Compared with noncarriers, carriers of PTV at CETP had higher high-density lipoprotein cholesterol (effect size, 22.6 mg/dL; 95% confidence interval, 18-27; P
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- 2017
26. Genetic risk models: Influence of model size on risk estimates and precision
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Shan, Ying, Tromp, Gerard, Kuivaniemi, Helena, Smelser, Diane T, Verma, Shefali S, Ritchie, Marylyn D, Elmore, James R, Carey, David J, Conley, Yvette P, Gorin, Michael B, and Weeks, Daniel E
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Epidemiology ,Biological Sciences ,Health Sciences ,Prevention ,Genetics ,Aged ,Aortic Aneurysm ,Abdominal ,Computer Simulation ,Confidence Intervals ,Databases ,Genetic ,Female ,Genetic Predisposition to Disease ,Humans ,Macular Degeneration ,Male ,Middle Aged ,Models ,Genetic ,Odds Ratio ,Polymorphism ,Single Nucleotide ,Risk Factors ,Sample Size ,disease risk estimation ,confidence interval ,model size ,reclassification ,Public Health and Health Services - Abstract
Disease risk estimation plays an important role in disease prevention. Many studies have found that the ability to predict risk improves as the number of risk single-nucleotide polymorphisms (SNPs) in the risk model increases. However, the width of the confidence interval of the risk estimate is often not considered in the evaluation of the risk model. Here, we explore how the risk and the confidence interval width change as more SNPs are added to the model in the order of decreasing effect size, using both simulated data and real data from studies of abdominal aortic aneurysms and age-related macular degeneration. Our results show that confidence interval width is positively correlated with model size and the majority of the bigger models have wider confidence interval widths than smaller models. Once the model size is bigger than a certain level, the risk does not shift markedly, as 100% of the risk estimates of the one-SNP-bigger models lie inside the confidence interval of the one-SNP-smaller models. We also created a confidence interval-augmented reclassification table. It shows that both more effective SNPs with larger odds ratios and less effective SNPs with smaller odds ratios contribute to the correct decision of whom to screen. The best screening strategy is selected and evaluated by the net benefit quantity and the reclassification rate. We suggest that individuals whose upper bound of their risk confidence interval is above the screening threshold, which corresponds to the population prevalence of the disease, should be screened.
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- 2017
27. Rare and low-frequency coding variants alter human adult height
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Marouli, Eirini, Graff, Mariaelisa, Medina-Gomez, Carolina, Lo, Ken Sin, Wood, Andrew R, Kjaer, Troels R, Fine, Rebecca S, Lu, Yingchang, Schurmann, Claudia, Highland, Heather M, Rüeger, Sina, Thorleifsson, Gudmar, Justice, Anne E, Lamparter, David, Stirrups, Kathleen E, Turcot, Valérie, Young, Kristin L, Winkler, Thomas W, Esko, Tõnu, Karaderi, Tugce, Locke, Adam E, Masca, Nicholas GD, Ng, Maggie CY, Mudgal, Poorva, Rivas, Manuel A, Vedantam, Sailaja, Mahajan, Anubha, Guo, Xiuqing, Abecasis, Goncalo, Aben, Katja K, Adair, Linda S, Alam, Dewan S, Albrecht, Eva, Allin, Kristine H, Allison, Matthew, Amouyel, Philippe, Appel, Emil V, Arveiler, Dominique, Asselbergs, Folkert W, Auer, Paul L, Balkau, Beverley, Banas, Bernhard, Bang, Lia E, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F, Blüher, Matthias, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A, Bonnycastle, Lori L, Bork-Jensen, Jette, Bots, Michiel L, Bottinger, Erwin P, Bowden, Donald W, Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H, Broer, Linda, Burt, Amber A, Butterworth, Adam S, Carey, David J, Caulfield, Mark J, Chambers, John C, Chasman, Daniel I, Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y, Cocca, Massimiliano, Collins, Francis S, Cook, James P, Corley, Janie, Galbany, Jordi Corominas, Cox, Amanda J, Cuellar-Partida, Gabriel, Danesh, John, Davies, Gail, de Bakker, Paul IW, de Borst, Gert J, de Denus, Simon, de Groot, Mark CH, de Mutsert, Renée, Deary, Ian J, Dedoussis, George, Demerath, Ellen W, den Hollander, Anneke I, Dennis, Joe G, Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dunning, Alison M, Easton, Douglas F, Ebeling, Tapani, Edwards, Todd L, Ellinor, Patrick T, Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, and Faul, Jessica D
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Human Genome ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,ADAMTS Proteins ,Adult ,Alleles ,Body Height ,Cell Adhesion Molecules ,Female ,Gene Frequency ,Genetic Variation ,Genome ,Human ,Glycoproteins ,Glycosaminoglycans ,Hedgehog Proteins ,Humans ,Intercellular Signaling Peptides and Proteins ,Interferon Regulatory Factors ,Interleukin-11 Receptor alpha Subunit ,Male ,Multifactorial Inheritance ,NADPH Oxidase 4 ,NADPH Oxidases ,Phenotype ,Pregnancy-Associated Plasma Protein-A ,Procollagen N-Endopeptidase ,Proteoglycans ,Proteolysis ,Receptors ,Androgen ,Somatomedins ,EPIC-InterAct Consortium ,CHD Exome+ Consortium ,ExomeBP Consortium ,T2D-Genes Consortium ,GoT2D Genes Consortium ,Global Lipids Genetics Consortium ,ReproGen Consortium ,MAGIC Investigators ,General Science & Technology - Abstract
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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- 2017
28. Rare GPR37L1 Variants Reveal Potential Association between GPR37L1 and Disorders of Anxiety and Migraine.
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Breitwieser, Gerda E., Cippitelli, Andrea, Yingcai Wang, Pelletier, Oliver, Dershem, Ridge, Jianning Wei, Toll, Lawrence, Fakhoury, Bianca, Brunori, Gloria, Metpally, Raghu, Carey, David J., and Robishaw, Janet
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SUMATRIPTAN ,ANXIETY disorders ,MIGRAINE ,MITOGEN-activated protein kinases ,GENETIC variation ,PATHOLOGICAL physiology - Abstract
GPR37L1 is an orphan receptor that couples through heterotrimeric G-proteins to regulate physiological functions. Since its role in humans is not fully defined, we used an unbiased computational approach to assess the clinical significance of rare G-protein-coupled receptor 37-like 1 (GPR37L1) genetic variants found among 51,289 whole-exome sequences from the DiscovEHR cohort. Rare GPR37L1 coding variants were binned according to predicted pathogenicity and analyzed by sequence kernel association testing to reveal significant associations with disease diagnostic codes for epilepsy and migraine, among others. Since associations do not prove causality, rare GPR37L1 variants were functionally analyzed in SK-N-MC cells to evaluate potential signaling differences and pathogenicity. Notably, receptor variants exhibited varying abilities to reduce cAMP levels, activate mitogen-activated protein kinase (MAPK) signaling, and/or upregulate receptor expression in response to the agonist prosaptide (TX14(A)), as compared with the wild-type receptor. In addition to signaling changes, knock-out (KO) of GPR37L1 or expression of certain rare variants altered cellular cholesterol levels, which were also acutely regulated by administration of the agonist TX14(A) via activation of the MAPK pathway. Finally, to simulate the impact of rare nonsense variants found in the large patient cohort, a KO mouse line lacking Gpr37l1 was generated. Although KO animals did not recapitulate an acute migraine phenotype, the loss of this receptor produced sex-specific changes in anxiety-related disorders often seen in chronic migraineurs. Collectively, these observations define the existence of rare GPR37L1 variants associated with neuropsychiatric conditions in the human population and identify the signaling changes contributing to pathological processes. [ABSTRACT FROM AUTHOR]
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- 2024
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29. Development of a Polygenic Risk Score to Predict Diverticulitis
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Schaeffer, H. David, primary, Smelser, Diane T., additional, Rao, H. Shanker, additional, Haley, Jeremy S., additional, Long, Kevin C., additional, Slipak, Sasha H., additional, Carey, David J., additional, and Hoffman, Rebecca L., additional
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- 2023
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30. Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1–Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome
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Sargen, Michael R., primary, Kim, Jung, additional, Potjer, Thomas P., additional, Velthuizen, Mary E., additional, Martir-Negron, Arelis E., additional, Odia, Yazmin, additional, Helgadottir, Hildur, additional, Hatton, Jessica N., additional, Haley, Jeremy S., additional, Thone, Gretchen, additional, Widemann, Brigitte C., additional, Gross, Andrea M., additional, Yohe, Marielle E., additional, Kaplan, Rosandra N., additional, Shern, Jack F., additional, Sundby, R. Taylor, additional, Astiazaran-Symonds, Esteban, additional, Yang, Xiaohong R., additional, Carey, David J., additional, Tucker, Margaret A., additional, Stewart, Douglas R., additional, and Goldstein, Alisa M., additional
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- 2023
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31. Genome-First Approach of the Prevalence and Cancer Phenotypes of Pathogenic or Likely Pathogenic Germline TP53 Variants
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de Andrade, Kelvin C., primary, Strande, Natasha T., additional, Kim, Jung, additional, Haley, Jeremy S., additional, Hatton, Jessica N., additional, Frone, Megan N., additional, Khincha, Payal P., additional, Thone, Gretchen M., additional, Mirshahi, Uyenlinh L., additional, Schneider, Cynthia, additional, Desai, Heena, additional, Dove, James T., additional, Smelser, Diane T., additional, BioBank, Penn Medicine, additional, Center, Regeneron Genetics, additional, Levine, Arnold J., additional, Maxwell, Kara N., additional, Stewart, Douglas R., additional, Carey, David J., additional, and Savage, Sharon A., additional
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- 2023
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32. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation
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Mirshahi, Uyenlinh L., Luo, Jonathan Z., Manickam, Kandamurugu, Wardeh, Amr H., Mirshahi, Tooraj, Murray, Michael F., and Carey, David J.
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- 2019
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33. Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
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Buchanan, Adam H., Manickam, Kandamurugu, Meyer, Michelle N., Wagner, Jennifer K., Hallquist, Miranda L. G., Williams, Janet L., Rahm, Alanna Kulchak, Williams, Marc S., Chen, Zong-Ming E., Shah, Chaitali K., Garg, Tullika K., Lazzeri, Amanda L., Schwartz, Marci L. B., Lindbuchler, D’ Andra M., Fan, Audrey L., Leeming, Rosemary, Servano, III, Pedro O., Smith, Ashlee L., Vogel, Victor G., Abul-Husn, Noura S., Dewey, Frederick E., Lebo, Matthew S., Mason-Suares, Heather M., Ritchie, Marylyn D., Davis, F. Daniel, Carey, David J., Feinberg, David T., Faucett, W. Andrew, Ledbetter, David H., and Murray, Michael F.
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- 2021
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34. Genetic identification of familial hypercholesterolemia within a single U.S. health care system
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Abul-Husn, Noura S., Manickam, Kandamurugu, Jones, Laney K., Wright, Eric A., Hartzel, Dustin N., Gonzaga-Jauregui, Claudia, O'Dushlaine, Colm, Leader, Joseph B., Kirchner, H. Lester, Lindbuchler, D'Andra M., Barr, Marci L., Giovanni, Monica A., Ritchie, Marylyn D., Overton, John D., Reid, Jeffrey G., Metpally, Raghu P. R., Wardeh, Amr H., Borecki, Ingrid B., Yancopoulos, George D., Baras, Aris, Shuldiner, Alan R., Gottesman, Omri, Ledbetter, David H., Carey, David J., Dewey, Frederick E., and Murray, Michael F.
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- 2016
35. Synergistic enhancement of efficacy of platinum drugs with verteporfin in ovarian cancer cells
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Dasari, Venkata Ramesh, Carey, David J., and Gogoi, Radhika
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- 2020
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36. Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans
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Sargen, Michael R., Kim, Jung, Haley, Jeremy S., Barker, Hayley P., Mundra, Piyushkumar A., Ballinger, Mandy L., Thomas, David M., Carey, David J., Goldstein, Alisa M., and Stewart, Douglas R.
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- 2024
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37. Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
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Nielsen, Jonas B., Thorolfsdottir, Rosa B., Fritsche, Lars G., Zhou, Wei, Skov, Morten W., Graham, Sarah E., Herron, Todd J., McCarthy, Shane, Schmidt, Ellen M., Sveinbjornsson, Gardar, Surakka, Ida, Mathis, Michael R., Yamazaki, Masatoshi, Crawford, Ryan D., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Holmen, Oddgeir L., Lin, Maoxuan, Wolford, Brooke N., Dey, Rounak, Dalen, Håvard, Sulem, Patrick, Chung, Jonathan H., Backman, Joshua D., Arnar, David O., Thorsteinsdottir, Unnur, Baras, Aris, O’Dushlaine, Colm, Holst, Anders G., Wen, Xiaoquan, Hornsby, Whitney, Dewey, Frederick E., Boehnke, Michael, Kheterpal, Sachin, Mukherjee, Bhramar, Lee, Seunggeun, Kang, Hyun M., Holm, Hilma, Kitzman, Jacob, Shavit, Jordan A., Jalife, José, Brummett, Chad M., Teslovich, Tanya M., Carey, David J., Gudbjartsson, Daniel F., Stefansson, Kari, Abecasis, Gonçalo R., Hveem, Kristian, and Willer, Cristen J.
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- 2018
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38. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
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Buchanan, Adam H, Manickam, Kandamurugu, Meyer, Michelle N, Wagner, Jennifer K, Hallquist, Miranda L G, Williams, Janet L, Rahm, Alanna Kulchak, Williams, Marc S, Chen, Zong-Ming E, Shah, Chaitali K, Garg, Tullika K, Lazzeri, Amanda L, Schwartz, Marci L B, Lindbuchler, D'Andra M, Fan, Audrey L, Leeming, Rosemary, Servano, III, Pedro O, Smith, Ashlee L, Vogel, Victor G, Abul-Husn, Noura S, Dewey, Frederick E, Lebo, Matthew S, Mason-Suares, Heather M, Ritchie, Marylyn D, Davis, F Daniel, Carey, David J, Feinberg, David T, Faucett, W Andrew, Ledbetter, David H, and Murray, Michael F
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- 2018
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39. Abstract 564: Genetic Basis Of Thoracic Aortic Aneurysms In A Large Unselected Clinical Population
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Mirshahi, Hannah S, primary, Haley, Jeremy S, additional, Smelser, Diane T, additional, Ryer, Evan J, additional, Elmore, James R, additional, and Carey, David J, additional
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- 2023
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40. Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants
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Haggerty, Christopher M., Damrauer, Scott M., Levin, Michael G., Birtwell, David, Carey, David J., Golden, Alicia M., Hartzel, Dustin N., Hu, Yirui, Judy, Renae, Kelly, Melissa A., Kember, Rachel L., Lester Kirchner, H., Leader, Joseph B., Liang, Lusha, McDermott-Roe, Chris, Babu, Apoorva, Morley, Michael, Nealy, Zachariah, Person, Thomas N., Pulenthiran, Arichanah, Small, Aeron, Smelser, Diane T., Stahl, Richard C., Sturm, Amy C., Williams, Heather, Baras, Aris, Margulies, Kenneth B., Cappola, Thomas P., Dewey, Frederick E., Verma, Anurag, Zhang, Xinyuan, Correa, Adolfo, Hall, Michael E., Wilson, James G., Ritchie, Marylyn D., Rader, Daniel J., Murray, Michael F., Fornwalt, Brandon K., and Arany, Zoltan
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- 2019
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41. GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network
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Namjou, Bahram, Lingren, Todd, Huang, Yongbo, Parameswaran, Sreeja, Cobb, Beth L., Stanaway, Ian B., Connolly, John J., Mentch, Frank D., Benoit, Barbara, Niu, Xinnan, Wei, Wei-Qi, Carroll, Robert J., Pacheco, Jennifer A., Harley, Isaac T. W., Divanovic, Senad, Carrell, David S., Larson, Eric B., Carey, David J., Verma, Shefali, Ritchie, Marylyn D., Gharavi, Ali G., Murphy, Shawn, Williams, Marc S., Crosslin, David R., Jarvik, Gail P., Kullo, Iftikhar J., Hakonarson, Hakon, Li, Rongling, The eMERGE Network, Xanthakos, Stavra A., and Harley, John B.
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- 2019
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42. Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population
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Miller, Jason E., Metpally, Raghu P., Person, Thomas N., Krishnamurthy, Sarathbabu, Dasari, Venkata Ramesh, Shivakumar, Manu, Lavage, Daniel R., Cook, Adam M., Carey, David J., Ritchie, Marylyn D., Kim, Dokyoon, Gogoi, Radhika, and on behalf of the DiscovEHR collaboration
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- 2019
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43. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population
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Beck, David B., primary, Bodian, Dale L., additional, Shah, Vandan, additional, Mirshahi, Uyenlinh L., additional, Kim, Jung, additional, Ding, Yi, additional, Magaziner, Samuel J., additional, Strande, Natasha T., additional, Cantor, Anna, additional, Haley, Jeremy S., additional, Cook, Adam, additional, Hill, Wesley, additional, Schwartz, Alan L., additional, Grayson, Peter C., additional, Ferrada, Marcela A., additional, Kastner, Daniel L., additional, Carey, David J., additional, and Stewart, Douglas R., additional
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- 2023
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44. Genetic Basis of Thoracic Aortic Aneurysms in a Large Unselected Clinical Population
- Author
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Mirshahi, Hannah S., primary, Haley, Jeremy S., additional, Smelser, Diane T., additional, Ryer, Evan J., additional, Elmore, James R., additional, and Carey, David J., additional
- Published
- 2023
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45. Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease
- Author
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Chang, Alexander R., primary, Moore, Bryn S., additional, Luo, Jonathan Z., additional, Sartori, Gino, additional, Fang, Brian, additional, Jacobs, Steven, additional, Abdalla, Yoosif, additional, Taher, Mohammed, additional, Carey, David J., additional, Triffo, William J., additional, Singh, Gurmukteshwar, additional, and Mirshahi, Tooraj, additional
- Published
- 2022
- Full Text
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46. The Molecular Biology and Genetics of Aneurysms
- Author
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Kuivaniemi, Helena, Tromp, Gerard, Carey, David J., Elmore, James R., Homeister, Jonathon W., editor, and Willis, Monte S., editor
- Published
- 2012
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47. Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
- Author
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Mirshahi, Uyenlinh L, primary, Colclough, Kevin, additional, Wright, Caroline F, additional, Wood, Andrew R, additional, Beaumont, Robin N, additional, Tyrrell, Jessica, additional, Laver, Thomas W, additional, Stahl, Richard, additional, Golden, Alicia, additional, Goehringer, Jessica M, additional, Frayling, Timothy F, additional, Hattersley, Andrew T, additional, Carey, David J, additional, Weedon, Michael N, additional, and Patel, Kashyap A, additional
- Published
- 2022
- Full Text
- View/download PDF
48. Genetic susceptibility to cerebrovascular disease: A systematic review
- Author
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Griessenauer, Christoph J, Farrell, Sean, Sarkar, Atom, Zand, Ramin, Abedi, Vida, Holland, Neil, Michael, Andrew, Cummings, Christopher L, Metpally, Raghu, Carey, David J, Goren, Oded, Martin, Neil, Hendrix, Philipp, and Schirmer, Clemens M
- Published
- 2018
- Full Text
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49. A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
- Author
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Abul-Husn, Noura S., Cheng, Xiping, Li, Alexander H., Xin, Yurong, Schurmann, Claudia, Stevis, Panayiotis, Liu, Yashu, Kozlitina, Julia, Stender, Stefan, Wood, Craig G., Stepanchick, Ann N., Still, Matthew D., McCarthy, Shane, OʼDushlaine, Colm, Packer, Jonathan S., Balasubramanian, Suganthi, Gosalia, Nehal, Esopi, David, Kim, Sun Y., Mukherjee, Semanti, Lopez, Alexander E., Fuller, Erin D., Penn, John, Chu, Xin, Luo, Jonathan Z., Mirshahi, Uyenlinh L., Carey, David J., Still, Christopher D., Feldman, Michael D., Small, Aeron, Damrauer, Scott M., Rader, Daniel J., Zambrowicz, Brian, Olson, William, Murphy, Andrew J., Borecki, Ingrid B., Shuldiner, Alan R., Reid, Jeffrey G., Overton, John D., Yancopoulos, George D., Hobbs, Helen H., Cohen, Jonathan C., Gottesman, Omri, Teslovich, Tanya M., Baras, Aris, Mirshahi, Tooraj, Gromada, Jesper, and Dewey, Frederick E.
- Published
- 2018
- Full Text
- View/download PDF
50. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
- Author
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Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Galbany, Jordi Corominas, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Loohuis, Loes M. Olde, Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Edwards, Digna R. Velez, Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-Genes Consortium, The MAGIC Investigators, Understanding Society Scientific Group, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., and Loos, Ruth J. F.
- Published
- 2019
- Full Text
- View/download PDF
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