3,442 results on '"Rader, Daniel J."'
Search Results
2. 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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3. Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial
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Johnson, Christina, Chen, Jinbo, McGowan, Mary P., Tricou, Eric, Card, Mary, Pettit, Amy R., Klaiman, Tamar, Rader, Daniel J., Volpp, Kevin G., and Beidas, Rinad S.
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- 2024
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4. Kagami Ogata syndrome: a small deletion refines critical region for imprinting
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Kilich, Gonench, Hassey, Kelly, Behrens, Edward M., Falk, Marni, Vanderver, Adeline, Rader, Daniel J., Cahill, Patrick J., Raper, Anna, Zhang, Zhe, Westerfer, Dawn, Jadhav, Tanaya, Conlin, Laura, Izumi, Kosuke, Rajagopalan, Ramakrishnan, and Sullivan, Kathleen E.
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- 2024
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5. Clinical correlates of CT imaging-derived phenotypes among lean and overweight patients with hepatic steatosis
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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., and Sagreiya, Hersh
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- 2024
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6. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
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Suzuki, Ken, Hatzikotoulas, Konstantinos, Southam, Lorraine, Taylor, Henry J., Yin, Xianyong, Lorenz, Kim M., Mandla, Ravi, Huerta-Chagoya, Alicia, Melloni, Giorgio E. M., Kanoni, Stavroula, Rayner, Nigel W., Bocher, Ozvan, Arruda, Ana Luiza, Sonehara, Kyuto, Namba, Shinichi, Lee, Simon S. K., Preuss, Michael H., Petty, Lauren E., Schroeder, Philip, Vanderwerff, Brett, Kals, Mart, Bragg, Fiona, Lin, Kuang, Guo, Xiuqing, Zhang, Weihua, Yao, Jie, Kim, Young Jin, Graff, Mariaelisa, Takeuchi, Fumihiko, Nano, Jana, Lamri, Amel, Nakatochi, Masahiro, Moon, Sanghoon, Scott, Robert A., Cook, James P., Lee, Jung-Jin, Pan, Ian, Taliun, Daniel, Parra, Esteban J., Chai, Jin-Fang, Bielak, Lawrence F., Tabara, Yasuharu, Hai, Yang, Thorleifsson, Gudmar, Grarup, Niels, Sofer, Tamar, Wuttke, Matthias, Sarnowski, Chloé, Gieger, Christian, Nousome, Darryl, Trompet, Stella, Kwak, Soo-Heon, Long, Jirong, Sun, Meng, Tong, Lin, Chen, Wei-Min, Nongmaithem, Suraj S., Noordam, Raymond, Lim, Victor J. Y., Tam, Claudia H. T., Joo, Yoonjung Yoonie, Chen, Chien-Hsiun, Raffield, Laura M., Prins, Bram Peter, Nicolas, Aude, Yanek, Lisa R., Chen, Guanjie, Brody, Jennifer A., Kabagambe, Edmond, An, Ping, Xiang, Anny H., Choi, Hyeok Sun, Cade, Brian E., Tan, Jingyi, Broadaway, K. Alaine, Williamson, Alice, Kamali, Zoha, Cui, Jinrui, Thangam, Manonanthini, Adair, Linda S., Adeyemo, Adebowale, Aguilar-Salinas, Carlos A., Ahluwalia, Tarunveer S., Anand, Sonia S., Bertoni, Alain, Bork-Jensen, Jette, Brandslund, Ivan, Buchanan, Thomas A., Burant, Charles F., Butterworth, Adam S., Canouil, Mickaël, Chan, Juliana C. N., Chang, Li-Ching, Chee, Miao-Li, Chen, Ji, Chen, Shyh-Huei, Chen, Yuan-Tsong, Chen, Zhengming, Chuang, Lee-Ming, Cushman, Mary, Danesh, John, Das, Swapan K., de Silva, H. Janaka, Dedoussis, George, Dimitrov, Latchezar, Doumatey, Ayo P., Du, Shufa, Duan, Qing, Eckardt, Kai-Uwe, Emery, Leslie S., Evans, Daniel S., Evans, Michele K., Fischer, Krista, Floyd, James S., Ford, Ian, Franco, Oscar H., Frayling, Timothy M., Freedman, Barry I., Genter, Pauline, Gerstein, Hertzel C., Giedraitis, Vilmantas, González-Villalpando, Clicerio, González-Villalpando, Maria Elena, Gordon-Larsen, Penny, Gross, Myron, Guare, Lindsay A., Hackinger, Sophie, Hakaste, Liisa, Han, Sohee, Hattersley, Andrew T., Herder, Christian, Horikoshi, Momoko, Howard, Annie-Green, Hsueh, Willa, Huang, Mengna, Huang, Wei, Hung, Yi-Jen, Hwang, Mi Yeong, Hwu, Chii-Min, Ichihara, Sahoko, Ikram, Mohammad Arfan, Ingelsson, Martin, Islam, Md. Tariqul, Isono, Masato, Jang, Hye-Mi, Jasmine, Farzana, Jiang, Guozhi, Jonas, Jost B., Jørgensen, Torben, Kamanu, Frederick K., Kandeel, Fouad R., Kasturiratne, Anuradhani, Katsuya, Tomohiro, Kaur, Varinderpal, Kawaguchi, Takahisa, Keaton, Jacob M., Kho, Abel N., Khor, Chiea-Chuen, Kibriya, Muhammad G., Kim, Duk-Hwan, Kronenberg, Florian, Kuusisto, Johanna, Läll, Kristi, Lange, Leslie A., Lee, Kyung Min, Lee, Myung-Shik, Lee, Nanette R., Leong, Aaron, Li, Liming, Li, Yun, Li-Gao, Ruifang, Ligthart, Symen, Lindgren, Cecilia M., Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Locke, Adam E., Louie, Tin, Luan, Jian’an, Luk, Andrea O., Luo, Xi, Lv, Jun, Lynch, Julie A., Lyssenko, Valeriya, Maeda, Shiro, Mamakou, Vasiliki, Mansuri, Sohail Rafik, Matsuda, Koichi, Meitinger, Thomas, Melander, Olle, Metspalu, Andres, Mo, Huan, Morris, Andrew D., Moura, Filipe A., Nadler, Jerry L., Nalls, Michael A., Nayak, Uma, Ntalla, Ioanna, Okada, Yukinori, Orozco, Lorena, Patel, Sanjay R., Patil, Snehal, Pei, Pei, Pereira, Mark A., Peters, Annette, Pirie, Fraser J., Polikowsky, Hannah G., Porneala, Bianca, Prasad, Gauri, Rasmussen-Torvik, Laura J., Reiner, Alexander P., Roden, Michael, Rohde, Rebecca, Roll, Katheryn, Sabanayagam, Charumathi, Sandow, Kevin, Sankareswaran, Alagu, Sattar, Naveed, Schönherr, Sebastian, Shahriar, Mohammad, Shen, Botong, Shi, Jinxiu, Shin, Dong Mun, Shojima, Nobuhiro, Smith, Jennifer A., So, Wing Yee, Stančáková, Alena, Steinthorsdottir, Valgerdur, Stilp, Adrienne M., Strauch, Konstantin, Taylor, Kent D., Thorand, Barbara, Thorsteinsdottir, Unnur, Tomlinson, Brian, Tran, Tam C., Tsai, Fuu-Jen, Tuomilehto, Jaakko, Tusie-Luna, Teresa, Udler, Miriam S., Valladares-Salgado, Adan, van Dam, Rob M., van Klinken, Jan B., Varma, Rohit, Wacher-Rodarte, Niels, Wheeler, Eleanor, Wickremasinghe, Ananda R., van Dijk, Ko Willems, Witte, Daniel R., Yajnik, Chittaranjan S., Yamamoto, Ken, Yamamoto, Kenichi, Yoon, Kyungheon, Yu, Canqing, Yuan, Jian-Min, Yusuf, Salim, Zawistowski, Matthew, Zhang, Liang, Zheng, Wei, Raffel, Leslie J., Igase, Michiya, Ipp, Eli, Redline, Susan, Cho, Yoon Shin, Lind, Lars, Province, Michael A., Fornage, Myriam, Hanis, Craig L., Ingelsson, Erik, Zonderman, Alan B., Psaty, Bruce M., Wang, Ya-Xing, Rotimi, Charles N., Becker, Diane M., Matsuda, Fumihiko, Liu, Yongmei, Yokota, Mitsuhiro, Kardia, Sharon L. R., Peyser, Patricia A., Pankow, James S., Engert, James C., Bonnefond, Amélie, Froguel, Philippe, Wilson, James G., Sheu, Wayne H. H., Wu, Jer-Yuarn, Hayes, M. Geoffrey, Ma, Ronald C. W., Wong, Tien-Yin, Mook-Kanamori, Dennis O., Tuomi, Tiinamaija, Chandak, Giriraj R., Collins, Francis S., Bharadwaj, Dwaipayan, Paré, Guillaume, Sale, Michèle M., Ahsan, Habibul, Motala, Ayesha A., Shu, Xiao-Ou, Park, Kyong-Soo, Jukema, J. Wouter, Cruz, Miguel, Chen, Yii-Der Ida, Rich, Stephen S., McKean-Cowdin, Roberta, Grallert, Harald, Cheng, Ching-Yu, Ghanbari, Mohsen, Tai, E-Shyong, Dupuis, Josee, Kato, Norihiro, Laakso, Markku, Köttgen, Anna, Koh, Woon-Puay, Bowden, Donald W., Palmer, Colin N. A., Kooner, Jaspal S., Kooperberg, Charles, Liu, Simin, North, Kari E., Saleheen, Danish, Hansen, Torben, Pedersen, Oluf, Wareham, Nicholas J., Lee, Juyoung, Kim, Bong-Jo, Millwood, Iona Y., Walters, Robin G., Stefansson, Kari, Ahlqvist, Emma, Goodarzi, Mark O., Mohlke, Karen L., Langenberg, Claudia, Haiman, Christopher A., Loos, Ruth J. F., Florez, Jose C., Rader, Daniel J., Ritchie, Marylyn D., Zöllner, Sebastian, Mägi, Reedik, Marston, Nicholas A., Ruff, Christian T., van Heel, David A., Finer, Sarah, Denny, Joshua C., Yamauchi, Toshimasa, Kadowaki, Takashi, Chambers, John C., Ng, Maggie C. Y., Sim, Xueling, Below, Jennifer E., Tsao, Philip S., Chang, Kyong-Mi, McCarthy, Mark I., Meigs, James B., Mahajan, Anubha, Spracklen, Cassandra N., Mercader, Josep M., Boehnke, Michael, Rotter, Jerome I., Vujkovic, Marijana, Voight, Benjamin F., Morris, Andrew P., and Zeggini, Eleftheria
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- 2024
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7. Evinacumab Reduces Triglyceride-Rich Lipoproteins in Patients with Hyperlipidemia: A Post-Hoc Analysis of Three Randomized Clinical Trials
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Rosenson, Robert S., Rader, Daniel J., Ali, Shazia, Banerjee, Poulabi, McGinniss, Jennifer, and Pordy, Robert
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- 2024
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8. Contrasting Views of Autism Spectrum Traits in Adults, Especially in Self-Reports vs. Informant-Reports for Women High in Autism Spectrum Traits
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Taylor, Sara C., Gehringer, Brielle N., Dow, Holly C., Langer, Allison, Rawot, Eric, Smernoff, Zoe, Steeman, Samantha, Almasy, Laura, Rader, Daniel J., Bučan, Maja, and Brodkin, Edward S.
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- 2024
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9. Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program
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Klarin, Derek, Devineni, Poornima, Sendamarai, Anoop K, Angueira, Anthony R, Graham, Sarah E, Shen, Ying H, Levin, Michael G, Pirruccello, James P, Surakka, Ida, Karnam, Purushotham R, Roychowdhury, Tanmoy, Li, Yanming, Wang, Minxian, Aragam, Krishna G, Paruchuri, Kaavya, Zuber, Verena, Shakt, Gabrielle E, Tsao, Noah L, Judy, Renae L, Vy, Ha My T, Verma, Shefali S, Rader, Daniel J, Do, Ron, Bavaria, Joseph E, Nadkarni, Girish N, Ritchie, Marylyn D, Burgess, Stephen, Guo, Dong-chuan, Ellinor, Patrick T, LeMaire, Scott A, Milewicz, Dianna M, Willer, Cristen J, Natarajan, Pradeep, Tsao, Philip S, Pyarajan, Saiju, and Damrauer, Scott M
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Cardiovascular ,Genetics ,Human Genome ,Prevention ,Aetiology ,2.1 Biological and endogenous factors ,Humans ,Genome-Wide Association Study ,Veterans ,Pedigree ,Aortic Aneurysm ,Thoracic ,Aortic Dissection ,VA Million Veteran Program ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
The current understanding of the genetic determinants of thoracic aortic aneurysms and dissections (TAAD) has largely been informed through studies of rare, Mendelian forms of disease. Here, we conducted a genome-wide association study (GWAS) of TAAD, testing ~25 million DNA sequence variants in 8,626 participants with and 453,043 participants without TAAD in the Million Veteran Program, with replication in an independent sample of 4,459 individuals with and 512,463 without TAAD from six cohorts. We identified 21 TAAD risk loci, 17 of which have not been previously reported. We leverage multiple downstream analytic methods to identify causal TAAD risk genes and cell types and provide human genetic evidence that TAAD is a non-atherosclerotic aortic disorder distinct from other forms of vascular disease. Our results demonstrate that the genetic architecture of TAAD mirrors that of other complex traits and that it is not solely inherited through protein-altering variants of large effect size.
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- 2023
10. Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study
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Chen, Hao Yu, Dina, Christian, Small, Aeron M, Shaffer, Christian M, Levinson, Rebecca T, Helgadóttir, Anna, Capoulade, Romain, Munter, Hans Markus, Martinsson, Andreas, Cairns, Benjamin J, Trudsø, Linea C, Hoekstra, Mary, Burr, Hannah A, Marsh, Thomas W, Damrauer, Scott M, Dufresne, Line, Le Scouarnec, Solena, Messika-Zeitoun, David, Ranatunga, Dilrini K, Whitmer, Rachel A, Bonnefond, Amélie, Sveinbjornsson, Garðar, Daníelsen, Ragnar, Arnar, David O, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Gudbjartsson, Daníel F, Hólm, Hilma, Ghouse, Jonas, Olesen, Morten Salling, Christensen, Alex H, Mikkelsen, Susan, Jacobsen, Rikke Louise, Dowsett, Joseph, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Ostrowski, Sisse R, Center, Regeneron Genetics, O’Donnell, Christopher J, Budoff, Matthew J, Gudnason, Vilmundur, Post, Wendy S, Rotter, Jerome I, Lathrop, Mark, Bundgaard, Henning, Johansson, Bengt, Ljungberg, Johan, Näslund, Ulf, Le Tourneau, Thierry, Smith, J Gustav, Wells, Quinn S, Söderberg, Stefan, Stefánsson, Kári, Schott, Jean-Jacques, Rader, Daniel J, Clarke, Robert, Engert, James C, and Thanassoulis, George
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Biomedical and Clinical Sciences ,Cardiovascular Medicine and Haematology ,Clinical Sciences ,Heart Disease - Coronary Heart Disease ,Prevention ,Heart Disease ,Cardiovascular ,Genetics ,Human Genome ,Atherosclerosis ,2.1 Biological and endogenous factors ,Humans ,Genome-Wide Association Study ,Adiposity ,Genetic Predisposition to Disease ,Aortic Valve Stenosis ,Obesity ,Risk Factors ,Inflammation ,Dyslipidemias ,Apolipoproteins ,Mendelian Randomization Analysis ,Polymorphism ,Single Nucleotide ,Aortic stenosis ,Genome-wide association study ,Mendelian randomization ,Phenome-wide association study ,Gene expression ,Genetic risk score ,Regeneron Genetics Center ,Cardiorespiratory Medicine and Haematology ,Cardiovascular System & Hematology ,Cardiovascular medicine and haematology ,Clinical sciences - Abstract
AimsAlthough highly heritable, the genetic etiology of calcific aortic stenosis (AS) remains incompletely understood. The aim of this study was to discover novel genetic contributors to AS and to integrate functional, expression, and cross-phenotype data to identify mechanisms of AS.Methods and resultsA genome-wide meta-analysis of 11.6 million variants in 10 cohorts involving 653 867 European ancestry participants (13 765 cases) was performed. Seventeen loci were associated with AS at P ≤ 5 × 10-8, of which 15 replicated in an independent cohort of 90 828 participants (7111 cases), including CELSR2-SORT1, NLRP6, and SMC2. A genetic risk score comprised of the index variants was associated with AS [odds ratio (OR) per standard deviation, 1.31; 95% confidence interval (CI), 1.26-1.35; P = 2.7 × 10-51] and aortic valve calcium (OR per standard deviation, 1.22; 95% CI, 1.08-1.37; P = 1.4 × 10-3), after adjustment for known risk factors. A phenome-wide association study indicated multiple associations with coronary artery disease, apolipoprotein B, and triglycerides. Mendelian randomization supported a causal role for apolipoprotein B-containing lipoprotein particles in AS (OR per g/L of apolipoprotein B, 3.85; 95% CI, 2.90-5.12; P = 2.1 × 10-20) and replicated previous findings of causality for lipoprotein(a) (OR per natural logarithm, 1.20; 95% CI, 1.17-1.23; P = 4.8 × 10-73) and body mass index (OR per kg/m2, 1.07; 95% CI, 1.05-1.9; P = 1.9 × 10-12). Colocalization analyses using the GTEx database identified a role for differential expression of the genes LPA, SORT1, ACTR2, NOTCH4, IL6R, and FADS.ConclusionDyslipidemia, inflammation, calcification, and adiposity play important roles in the etiology of AS, implicating novel treatments and prevention strategies.
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- 2023
11. Contributors
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Agha, Ali M., primary, Alexander, Lydia C., additional, Ballantyne, Christie M., additional, Bays, Harold, additional, Bhatt, Deepak L., additional, Blumenthal, Roger S., additional, Boffa, Michael B., additional, Bond, Rachel M., additional, Brandts, Julia M., additional, Brinton, Eliot A., additional, Brothers, Julie A., additional, Catapano, Alberico L., additional, Chan, Dick C., additional, Chiavaroli, Laura, additional, Cho, Laura Browning, additional, Cho, Leslie, additional, Cummings, Danielle, additional, Daniels, Stephen R., additional, Deshotels, Matthew R., additional, Dove, Erik, additional, Feldman, David I., additional, Fellström, Bengt, additional, Ferdinand, Keith C., additional, Fichtenbaum, Carl J., additional, Fitch, Angela, additional, Gaudet, Daniel, additional, Ginsberg, Henry N., additional, Gluckman, Ty J., additional, Hegele, Robert A., additional, Hoogeveen, Ron C., additional, Hussain, Aliza, additional, Jardine, Alan G., additional, Jenkins, David J.A., additional, Jones, Peter H., additional, Jones, Peter, additional, Kachur, Sergey M., additional, Kendall, Cyril W.C., additional, Knowles, Joshua W., additional, Kobashigawa, Jon A., additional, Koschinsky, Marlys L., additional, Kris-Etherton, Penny M., additional, Lavie, Carl J., additional, Libby, Peter, additional, Marcovina, Santica M., additional, Mark, Patrick B., additional, Marston, Nicholas A., additional, Martin, Seth Shay, additional, Michos, Erin D., additional, Mirrahimi, Arash, additional, Mora, Samia, additional, Moriarty, Patrick M., additional, Nambi, Vijay, additional, Nelson, Adam J., additional, Nicholls, Stephen J., additional, Nissen, Steven E., additional, Nordestgaard, Børge Grønne, additional, Norata, Giuseppe Danilo, additional, Orringer, Carl, additional, Palmisano, Brian T., additional, Patel, Darshna, additional, Patel, Rajan K., additional, Pulipati, Vishnu Priya, additional, Raal, Frederick J., additional, Rader, Daniel J., additional, Ray, Kausik K., additional, Richter, Chesney, additional, Ridker, Paul M., additional, Sabatine, Marc S., additional, Safarova, Maya S., additional, Santos, Raul D., additional, Saseen, Joseph J., additional, Schwartz, Gregory G., additional, Shustak, Rachel J., additional, Sievenpiper, John L., additional, Singh, Nickpreet, additional, Skulas-Ray, Ann C., additional, Srichaikul, Kristie, additional, Stone, Neil J., additional, Tokgözoğlu, Lale, additional, Tybjærg-Hansen, Anne, additional, Virani, Salim S., additional, Watson, Karol, additional, Watts, Gerald F., additional, Wenger, Nanette K., additional, and Wong, Julia M.W., additional
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- 2024
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12. Gene Therapy and Therapeutic Genome Editing in Liver for Lipid Disorders
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Rader, Daniel J., primary
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- 2024
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13. Rare genetic variants explain missing heritability in smoking.
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Jang, Seon-Kyeong, Evans, Luke, Fialkowski, Allison, Arnett, Donna K, Ashley-Koch, Allison E, Barnes, Kathleen C, Becker, Diane M, Bis, Joshua C, Blangero, John, Bleecker, Eugene R, Boorgula, Meher Preethi, Bowden, Donald W, Brody, Jennifer A, Cade, Brian E, Jenkins, Brenda W Campbell, Carson, April P, Chavan, Sameer, Cupples, L Adrienne, Custer, Brian, Damrauer, Scott M, David, Sean P, de Andrade, Mariza, Dinardo, Carla L, Fingerlin, Tasha E, Fornage, Myriam, Freedman, Barry I, Garrett, Melanie E, Gharib, Sina A, Glahn, David C, Haessler, Jeffrey, Heckbert, Susan R, Hokanson, John E, Hou, Lifang, Hwang, Shih-Jen, Hyman, Matthew C, Judy, Renae, Justice, Anne E, Kaplan, Robert C, Kardia, Sharon LR, Kelly, Shannon, Kim, Wonji, Kooperberg, Charles, Levy, Daniel, Lloyd-Jones, Donald M, Loos, Ruth JF, Manichaikul, Ani W, Gladwin, Mark T, Martin, Lisa Warsinger, Nouraie, Mehdi, Melander, Olle, Meyers, Deborah A, Montgomery, Courtney G, North, Kari E, Oelsner, Elizabeth C, Palmer, Nicholette D, Payton, Marinelle, Peljto, Anna L, Peyser, Patricia A, Preuss, Michael, Psaty, Bruce M, Qiao, Dandi, Rader, Daniel J, Rafaels, Nicholas, Redline, Susan, Reed, Robert M, Reiner, Alexander P, Rich, Stephen S, Rotter, Jerome I, Schwartz, David A, Shadyab, Aladdin H, Silverman, Edwin K, Smith, Nicholas L, Smith, J Gustav, Smith, Albert V, Smith, Jennifer A, Tang, Weihong, Taylor, Kent D, Telen, Marilyn J, Vasan, Ramachandran S, Gordeuk, Victor R, Wang, Zhe, Wiggins, Kerri L, Yanek, Lisa R, Yang, Ivana V, Young, Kendra A, Young, Kristin L, Zhang, Yingze, Liu, Dajiang J, Keller, Matthew C, and Vrieze, Scott
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Smoking ,Gene Frequency ,Phenotype ,Polymorphism ,Single Nucleotide ,Genome-Wide Association Study ,Tobacco ,Genetics ,Tobacco Smoke and Health ,Human Genome ,Cancer - Abstract
Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this 'missing heritability'. We investigated the contribution of rare genetic variants to tobacco use with whole-genome sequences from up to 26,257 unrelated individuals of European ancestries and 11,743 individuals of African ancestries. Across four smoking traits, single-nucleotide-polymorphism-based heritability ([Formula: see text]) was estimated from 0.13 to 0.28 (s.e., 0.10-0.13) in European ancestries, with 35-74% of it attributable to rare variants with minor allele frequencies between 0.01% and 1%. These heritability estimates are 1.5-4 times higher than past estimates based on common variants alone and accounted for 60% to 100% of our pedigree-based estimates of narrow-sense heritability ([Formula: see text], 0.18-0.34). In the African ancestry samples, [Formula: see text] was estimated from 0.03 to 0.33 (s.e., 0.09-0.14) across the four smoking traits. These results suggest that rare variants are important contributors to the heritability of smoking.
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- 2022
14. Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions
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Phung, Lillian, Wood, Elisabeth, Egleston, Brian, Hoffman-Andrews, Lily, Ofidis, Demetrios, Howe, Sarah, Mim, Rajia, Griffin, Hannah, Fetzer, Dominique, Owens, Anjali, Domchek, Susan, Pyeritz, Reed, Katona, Bryson, Kallish, Staci, Sirugo, Giorgio, Weaver, JoEllen, Nathanson, Katherine L., Rader, Daniel J., and Bradbury, Angela R.
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- 2024
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15. Prior vaccination promotes early activation of memory T cells and enhances immune responses during SARS-CoV-2 breakthrough infection
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Painter, Mark M., Johnston, Timothy S., Lundgreen, Kendall A., Santos, Jefferson J. S., Qin, Juliana S., Goel, Rishi R., Apostolidis, Sokratis A., Mathew, Divij, Fulmer, Bria, Williams, Justine C., McKeague, Michelle L., Pattekar, Ajinkya, Goode, Ahmad, Nasta, Sean, Baxter, Amy E., Giles, Josephine R., Skelly, Ashwin N., Felley, Laura E., McLaughlin, Maura, Weaver, Joellen, Kuthuru, Oliva, Dougherty, Jeanette, Adamski, Sharon, Long, Sherea, Kee, Macy, Clendenin, Cynthia, da Silva Antunes, Ricardo, Grifoni, Alba, Weiskopf, Daniela, Sette, Alessandro, Huang, Alexander C., Rader, Daniel J., Hensley, Scott E., Bates, Paul, Greenplate, Allison R., and Wherry, E. John
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- 2023
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16. A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
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Vujkovic, Marijana, Ramdas, Shweta, Lorenz, Kim M, Guo, Xiuqing, Darlay, Rebecca, Cordell, Heather J, He, Jing, Gindin, Yevgeniy, Chung, Chuhan, Myers, Robert P, Schneider, Carolin V, Park, Joseph, Lee, Kyung Min, Serper, Marina, Carr, Rotonya M, Kaplan, David E, Haas, Mary E, MacLean, Matthew T, Witschey, Walter R, Zhu, Xiang, Tcheandjieu, Catherine, Kember, Rachel L, Kranzler, Henry R, Verma, Anurag, Giri, Ayush, Klarin, Derek M, Sun, Yan V, Huang, Jie, Huffman, Jennifer E, Creasy, Kate Townsend, Hand, Nicholas J, Liu, Ching-Ti, Long, Michelle T, Yao, Jie, Budoff, Matthew, Tan, Jingyi, Li, Xiaohui, Lin, Henry J, Chen, Yii-Der Ida, Taylor, Kent D, Chang, Ruey-Kang, Krauss, Ronald M, Vilarinho, Silvia, Brancale, Joseph, Nielsen, Jonas B, Locke, Adam E, Jones, Marcus B, Verweij, Niek, Baras, Aris, Reddy, K Rajender, Neuschwander-Tetri, Brent A, Schwimmer, Jeffrey B, Sanyal, Arun J, Chalasani, Naga, Ryan, Kathleen A, Mitchell, Braxton D, Gill, Dipender, Wells, Andrew D, Manduchi, Elisabetta, Saiman, Yedidya, Mahmud, Nadim, Miller, Donald R, Reaven, Peter D, Phillips, Lawrence S, Muralidhar, Sumitra, DuVall, Scott L, Lee, Jennifer S, Assimes, Themistocles L, Pyarajan, Saiju, Cho, Kelly, Edwards, Todd L, Damrauer, Scott M, Wilson, Peter W, Gaziano, J Michael, O’Donnell, Christopher J, Khera, Amit V, Grant, Struan FA, Brown, Christopher D, Tsao, Philip S, Saleheen, Danish, Lotta, Luca A, Bastarache, Lisa, Anstee, Quentin M, Daly, Ann K, Meigs, James B, Rotter, Jerome I, Lynch, Julie A, Rader, Daniel J, Voight, Benjamin F, and Chang, Kyong-Mi
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Genetics ,Liver Disease ,Human Genome ,Digestive Diseases ,Chronic Liver Disease and Cirrhosis ,Aetiology ,2.1 Biological and endogenous factors ,Alanine Transaminase ,Alpha-Ketoglutarate-Dependent Dioxygenase FTO ,Genome-Wide Association Study ,Humans ,Intracellular Signaling Peptides and Proteins ,Lipase ,Membrane Proteins ,Non-alcoholic Fatty Liver Disease ,Polymorphism ,Single Nucleotide ,Protein Serine-Threonine Kinases ,Regeneron Genetics Center ,Geisinger-Regeneron DiscovEHR Collaboration ,EPoS Consortium ,VA Million Veteran Program ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Nonalcoholic fatty liver disease (NAFLD) is a growing cause of chronic liver disease. Using a proxy NAFLD definition of chronic elevation of alanine aminotransferase (cALT) levels without other liver diseases, we performed a multiancestry genome-wide association study (GWAS) in the Million Veteran Program (MVP) including 90,408 cALT cases and 128,187 controls. Seventy-seven loci exceeded genome-wide significance, including 25 without prior NAFLD or alanine aminotransferase associations, with one additional locus identified in European American-only and two in African American-only analyses (P
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- 2022
17. The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD
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Rendel, Miriam Daphne, Vitali, Cecilia, Creasy, Kate Townsend, Zhang, David, Scorletti, Eleonora, Huang, Helen, Seeling, Katharina Sophie, Park, Joseph, Hehl, Leonida, Vell, Mara Sophie, Conlon, Donna, Hayat, Sikander, Phillips, Michael C., Schneider, Kai Markus, Rader, Daniel J., and Schneider, Carolin Victoria
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- 2024
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18. Chromatin regulator SMARCAL1 modulates cellular lipid metabolism
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Nagai, Taylor Hanta, Hartigan, Chrissy, Mizoguchi, Taiji, Yu, Haojie, Deik, Amy, Bullock, Kevin, Wang, Yanyan, Cromley, Debra, Schenone, Monica, Cowan, Chad A., Rader, Daniel J., Clish, Clary B., Carr, Steven A., and Xu, Yu-Xin
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- 2023
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19. mTORCI controls murine postprandial hepatic glycogen synthesis via Ppp1r3b
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Uehara, Kahealani, Lee, Won Dong, Stefkovich, Megan, Biswas, Dipsikha, Santoleri, Dominic, Whitlock, Anna Garcia, Quinn, William, III, Coopersmith, Talia, Creasy, Kate Townsend, Rader, Daniel J., Sakamoto, Kei, Rabinowitz, Joshua D., and Titchenell, Paul M.
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Dextrose -- Physiological aspects ,Genetic polymorphisms -- Physiological aspects ,Glycogen -- Physiological aspects -- Synthesis ,Animal genetics -- Physiological aspects ,Diabetes therapy -- Physiological aspects ,Phosphatases -- Physiological aspects ,Protein biosynthesis -- Physiological aspects ,Insulin -- Physiological aspects ,Liver -- Physiological aspects ,Glucose -- Physiological aspects ,Glucose metabolism -- Physiological aspects ,Type 2 diabetes -- Physiological aspects ,Health care industry ,University of Pennsylvania - Abstract
In response to a meal, insulin drives hepatic glycogen synthesis to help regulate systemic glucose homeostasis. The mechanistic target of rapamycin complex 1 (mTORC1) is a well-established insulin target and contributes to the postprandial control of liver lipid metabolism, autophagy, and protein synthesis. However, its role in hepatic glucose metabolism is less understood. Here, we used metabolomics, isotope tracing, and mouse genetics to define a role for liver mTORC1 signaling in the control of postprandial glycolytic intermediates and glycogen deposition. We show that mTORC1 is required for glycogen synthase activity and glycogenesis. Mechanistically, hepatic mTORC1 activity promotes the feeding-dependent induction of Ppp1r3b, a gene encoding a phosphatase important for glycogen synthase activity whose polymorphisms are linked to human diabetes. Reexpression of Ppp1r3b in livers lacking mTORC1 signaling enhances glycogen synthase activity and restores postprandial glycogen content. mTORC1-dependent transcriptional control of Ppp1r3b is facilitated by FOXO1, a well characterized transcriptional regulator involved in the hepatic response to nutrient intake. Collectively, we identify a role for mTORC1 signaling in the transcriptional regulation of Ppp1r3b and the subsequent induction of postprandial hepatic glycogen synthesis., Introduction The liver is a central regulator of systemic glucose metabolism. Dysregulation of postprandial hepatic glucose metabolism contributes to the development of metabolic disorders, such as insulin resistance and type [...]
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- 2024
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20. Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes
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Pyle, Louise C., Kim, Jung, Bradfield, Jonathan, Damrauer, Scott M., D'Andrea, Kurt, Einhorn, Lawrence H., Godse, Rama, Hakonarson, Hakon, Kanetsky, Peter A., Kember, Rachel L., Jacobs, Linda A., Maxwell, Kara N., Rader, Daniel J., Vaughn, David J., Weathers, Benita, Wubbenhorst, Bradley, Regeneron Genetics Center Research Team, Cancer Genomics Research Laboratory, Greene, Mark H., Nathanson, Katherine L., and Stewart, Douglas R.
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- 2024
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21. Whole genome sequence analysis of blood lipid levels in >66,000 individuals
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Selvaraj, Margaret Sunitha, Li, Xihao, Li, Zilin, Pampana, Akhil, Zhang, David Y, Park, Joseph, Aslibekyan, Stella, Bis, Joshua C, Brody, Jennifer A, Cade, Brian E, Chuang, Lee-Ming, Chung, Ren-Hua, Curran, Joanne E, de las Fuentes, Lisa, de Vries, Paul S, Duggirala, Ravindranath, Freedman, Barry I, Graff, Mariaelisa, Guo, Xiuqing, Heard-Costa, Nancy, Hidalgo, Bertha, Hwu, Chii-Min, Irvin, Marguerite R, Kelly, Tanika N, Kral, Brian G, Lange, Leslie, Li, Xiaohui, Lisa, Martin, Lubitz, Steven A, Manichaikul, Ani W, Michael, Preuss, Montasser, May E, Morrison, Alanna C, Naseri, Take, O’Connell, Jeffrey R, Palmer, Nicholette D, Peyser, Patricia A, Reupena, Muagututia S, Smith, Jennifer A, Sun, Xiao, Taylor, Kent D, Tracy, Russell P, Tsai, Michael Y, Wang, Zhe, Wang, Yuxuan, Bao, Wei, Wilkins, John T, Yanek, Lisa R, Zhao, Wei, Arnett, Donna K, Blangero, John, Boerwinkle, Eric, Bowden, Donald W, Chen, Yii-Der Ida, Correa, Adolfo, Cupples, L Adrienne, Dutcher, Susan K, Ellinor, Patrick T, Fornage, Myriam, Gabriel, Stacey, Germer, Soren, Gibbs, Richard, He, Jiang, Kaplan, Robert C, Kardia, Sharon LR, Kim, Ryan, Kooperberg, Charles, Loos, Ruth JF, Viaud-Martinez, Karine A, Mathias, Rasika A, McGarvey, Stephen T, Mitchell, Braxton D, Nickerson, Deborah, North, Kari E, Psaty, Bruce M, Redline, Susan, Reiner, Alexander P, Vasan, Ramachandran S, Rich, Stephen S, Willer, Cristen, Rotter, Jerome I, Rader, Daniel J, Lin, Xihong, Peloso, Gina M, and Natarajan, Pradeep
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Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Epidemiology ,Health Sciences ,Biotechnology ,Heart Disease - Coronary Heart Disease ,Cardiovascular ,Heart Disease ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Good Health and Well Being ,Alleles ,Cholesterol ,LDL ,Genome-Wide Association Study ,Humans ,Lipids ,Whole Genome Sequencing ,NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium - Abstract
Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery of lipid-associated alleles using whole genome sequencing (WGS), partly due to limited sample sizes, ancestral diversity, and interpretation of clinical significance. Among 66,329 ancestrally diverse (56% non-European) participants, we associate 428M variants from deep-coverage WGS with lipid levels; ~400M variants were not assessed in prior lipids genetic analyses. We find multiple lipid-related genes strongly associated with blood lipids through analysis of common and rare coding variants. We discover several associated rare non-coding variants, largely at Mendelian lipid genes. Notably, we observe rare LDLR intronic variants associated with markedly increased LDL-C, similar to rare LDLR exonic variants. In conclusion, we conducted a systematic whole genome scan for blood lipids expanding the alleles linked to lipids for multiple ancestries and characterize a clinically-relevant rare non-coding variant model for lipids.
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- 2022
22. Lp(a) Metabolism
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Millar, John S., Rader, Daniel J., Toth, Peter P., Series Editor, Kostner, Karam, editor, and Kostner, Gerhard M., editor
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- 2023
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23. Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation
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Lo Faro, Valeria, Bhattacharya, Arjun, Zhou, Wei, Zhou, Dan, Wang, Ying, Läll, Kristi, Kanai, Masahiro, Lopera-Maya, Esteban, Straub, Peter, Pawar, Priyanka, Tao, Ran, Zhong, Xue, Namba, Shinichi, Sanna, Serena, Nolte, Ilja M., Okada, Yukinori, Ingold, Nathan, MacGregor, Stuart, Snieder, Harold, Surakka, Ida, Shortt, Jonathan, Gignoux, Chris, Rafaels, Nicholas, Crooks, Kristy, Verma, Anurag, Verma, Shefali S., Guare, Lindsay, Rader, Daniel J., Willer, Cristen, Martin, Alicia R., Brantley, Milam A., Jr., Gamazon, Eric R., Jansonius, Nomdo M., Joos, Karen, Cox, Nancy J., and Hirbo, Jibril
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- 2024
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24. Progression of Coronary Artery Calcification and Risk of Clinical Events in CKD: The Chronic Renal Insufficiency Cohort Study
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Anderson, Amanda H., Appel, Lawrence J., Chen, Jing, Cohen, Debbie, Dember, Laura M., Go, Alan S., Nelson, Robert G., Rahman, Mahboob, Rao, Panduranga S., Shah, Vallabh O., Unruh, Mark L., Tian, Ling, Jaeger, Byron C., Scialla, Julia J., Budoff, Matthew J., Mehta, Rupal C., Jaar, Bernard G., Saab, Georges, Dobre, Mirela A., Reilly, Muredach P., Rader, Daniel J., Townsend, Raymond R., Lash, James P., Greenland, Philip, Isakova, Tamara, and Bundy, Joshua D.
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- 2024
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25. Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach
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Huang, Helen Ye Rim, Vitali, Cecilia, Zhang, David, Hand, Nicholas J., Phillips, Michael C., Creasy, Kate Townsend, Scorletti, Eleonora, Park, Joseph, Centre, Regeneron, Schneider, Kai Markus, Rader, Daniel J., and Schneider, Carolin Victoria
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- 2024
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26. Continuing education and professional development: Unifying opportunities for genetic counselors globally
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Valverde, Kathleen D., Hartman, Tiffiney R., Reichert, Sara L., Bennett, Robin L., Dudek, Martha, Duquette, Debra, Riconda, Daniel, Cox, Nancy J., Jarvik, Gail P., Elsea, Sarah H., McNally, Elizabeth M., Worley, Kim C., and Rader, Daniel J.
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- 2024
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27. A missense variant in human perilipin 2 (PLIN2 Ser251Pro) reduces hepatic steatosis in mice
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Scorletti, Eleonora, Saiman, Yedidya, Jeon, Sookyoung, Schneider, Carolin V., Buyco, Delfin G., Lin, Chelsea, Himes, Blanca E., Mesaros, Clementina A., Vujkovic, Marijana, Creasy, Kate Townsend, Furth, Emma E., Billheimer, Jeffrey T., Hand, Nicholas J., Kaplan, David E., Chang, Kyong-Mi, Tsao, Philip S., Lynch, Julie A., Dempsey, Joseph L., Harkin, Julia, Bayen, Susovon, Conlon, Donna, Guerraty, Marie, Phillips, Michael C., Rader, Daniel J., and Carr, Rotonya M.
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- 2024
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28. Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial
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Rosenson, Robert S., Gaudet, Daniel, Ballantyne, Christie M., Baum, Seth J., Bergeron, Jean, Kershaw, Erin E., Moriarty, Patrick M., Rubba, Paolo, Whitcomb, David C., Banerjee, Poulabi, Gewitz, Andrew, Gonzaga-Jauregui, Claudia, McGinniss, Jennifer, Ponda, Manish P., Pordy, Robert, Zhao, Jian, and Rader, Daniel J.
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- 2023
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29. 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
30. A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts
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Veturi, Yogasudha, Lucas, Anastasia, Bradford, Yuki, Hui, Daniel, Dudek, Scott, Theusch, Elizabeth, Verma, Anurag, Miller, Jason E, Kullo, Iftikhar, Hakonarson, Hakon, Sleiman, Patrick, Schaid, Daniel, Stein, Charles M, Edwards, Digna R Velez, Feng, QiPing, Wei, Wei-Qi, Medina, Marisa W, Krauss, Ronald M, Hoffmann, Thomas J, Risch, Neil, Voight, Benjamin F, Rader, Daniel J, and Ritchie, Marylyn D
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Biological Sciences ,Genetics ,Prevention ,Human Genome ,Biotechnology ,Generic health relevance ,Good Health and Well Being ,Alleles ,Biological Specimen Banks ,Biomarkers ,Disease Susceptibility ,Electronic Health Records ,Genetic Association Studies ,Genetic Predisposition to Disease ,Humans ,Lipids ,Polymorphism ,Single Nucleotide ,Public Health Surveillance ,Quantitative Trait ,Heritable ,United Kingdom ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Plasma lipids are known heritable risk factors for cardiovascular disease, but increasing evidence also supports shared genetics with diseases of other organ systems. We devised a comprehensive three-phase framework to identify new lipid-associated genes and study the relationships among lipids, genotypes, gene expression and hundreds of complex human diseases from the Electronic Medical Records and Genomics (347 traits) and the UK Biobank (549 traits). Aside from 67 new lipid-associated genes with strong replication, we found evidence for pleiotropic SNPs/genes between lipids and diseases across the phenome. These include discordant pleiotropy in the HLA region between lipids and multiple sclerosis and putative causal paths between triglycerides and gout, among several others. Our findings give insights into the genetic basis of the relationship between plasma lipids and diseases on a phenome-wide scale and can provide context for future prevention and treatment strategies.
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- 2021
31. Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes
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Shah, Parisha P, Lv, Wenjian, Rhoades, Joshua H, Poleshko, Andrey, Abbey, Deepti, Caporizzo, Matthew A, Linares-Saldana, Ricardo, Heffler, Julie G, Sayed, Nazish, Thomas, Dilip, Wang, Qiaohong, Stanton, Liam J, Bedi, Kenneth, Morley, Michael P, Cappola, Thomas P, Owens, Anjali T, Margulies, Kenneth B, Frank, David B, Wu, Joseph C, Rader, Daniel J, Yang, Wenli, Prosser, Benjamin L, Musunuru, Kiran, and Jain, Rajan
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Cardiovascular ,Stem Cell Research - Induced Pluripotent Stem Cell ,Stem Cell Research - Induced Pluripotent Stem Cell - Human ,Stem Cell Research ,Heart Disease ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Cardiomyopathy ,Dilated ,Chromatin ,Humans ,Induced Pluripotent Stem Cells ,Lamin Type A ,Mutation ,Myocytes ,Cardiac ,genome organization ,hiPSC ,laminopathy ,peripheral heterochromatin ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Pathogenic mutations in LAMIN A/C (LMNA) cause abnormal nuclear structure and laminopathies. These diseases have myriad tissue-specific phenotypes, including dilated cardiomyopathy (DCM), but how LMNA mutations result in tissue-restricted disease phenotypes remains unclear. We introduced LMNA mutations from individuals with DCM into human induced pluripotent stem cells (hiPSCs) and found that hiPSC-derived cardiomyocytes, in contrast to hepatocytes or adipocytes, exhibit aberrant nuclear morphology and specific disruptions in peripheral chromatin. Disrupted regions were enriched for transcriptionally active genes and regions with lower LAMIN B1 contact frequency. The lamina-chromatin interactions disrupted in mutant cardiomyocytes were enriched for genes associated with non-myocyte lineages and correlated with higher expression of those genes. Myocardium from individuals with LMNA variants similarly showed aberrant expression of non-myocyte pathways. We propose that the lamina network safeguards cellular identity and that pathogenic LMNA variants disrupt peripheral chromatin with specific epigenetic and molecular characteristics, causing misexpression of genes normally expressed in other cell types.
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- 2021
32. Large-scale identification of undiagnosed hepatic steatosis using natural language processing
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Schneider, Carolin V., Li, Tang, Zhang, David, Mezina, Anya I., Rattan, Puru, Huang, Helen, Creasy, Kate Townsend, Scorletti, Eleonora, Zandvakili, Inuk, Vujkovic, Marijana, Hehl, Leonida, Fiksel, Jacob, Park, Joseph, Wangensteen, Kirk, Risman, Marjorie, Chang, Kyong-Mi, Serper, Marina, Carr, Rotonya M., Schneider, Kai Markus, Chen, Jinbo, and Rader, Daniel J.
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- 2023
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33. Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program
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Kanchan, Kanika, Iyer, Kruthika, Yanek, Lisa R, Carcamo-Orive, Ivan, Taub, Margaret A, Malley, Claire, Baldwin, Kristin, Becker, Lewis C, Broeckel, Ulrich, Cheng, Linzhao, Cowan, Chad, D'Antonio, Matteo, Frazer, Kelly A, Quertermous, Thomas, Mostoslavsky, Gustavo, Murphy, George, Rabinovitch, Marlene, Rader, Daniel J, Steinberg, Martin H, Topol, Eric, Yang, Wenli, Knowles, Joshua W, Jaquish, Cashell E, Ruczinski, Ingo, and Mathias, Rasika A
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Biological Sciences ,Genetics ,Stem Cell Research - Induced Pluripotent Stem Cell - Human ,Stem Cell Research - Induced Pluripotent Stem Cell ,Biotechnology ,Human Genome ,Cancer ,Stem Cell Research ,2.1 Biological and endogenous factors ,Aetiology ,Cell Differentiation ,DNA Copy Number Variations ,DNA-Binding Proteins ,Genomic Instability ,Genomics ,Humans ,Induced Pluripotent Stem Cells ,National Heart ,Lung ,and Blood Institute (U.S.) ,United States ,hiPSCs ,Structural integrity ,GWAS ,VanillaICE ,Oncogenes ,Tumor suppressor genes ,Medical and Health Sciences ,Developmental Biology ,Medical biotechnology ,Oncology and carcinogenesis - Abstract
Human induced pluripotent stem cell (hiPSC) lines have previously been generated through the NHLBI sponsored NextGen program at nine individual study sites. Here, we examined the structural integrity of 506 hiPSC lines as determined by copy number variations (CNVs). We observed that 149 hiPSC lines acquired 258 CNVs relative to donor DNA. We identified six recurrent regions of CNVs on chromosomes 1, 2, 3, 16 and 20 that overlapped with cancer associated genes. Furthermore, the genes mapping to regions of acquired CNVs show an enrichment in cancer related biological processes (IL6 production) and signaling cascades (JNK cascade & NFκB cascade). The genomic region of instability on chr20 (chr20q11.2) includes transcriptomic signatures for cancer associated genes such as ID1, BCL2L1, TPX2, PDRG1 and HCK. Of these HCK shows statistically significant differential expression between carrier and non-carrier hiPSC lines. Overall, while a low level of genomic instability was observed in the NextGen generated hiPSC lines, the observation of structural instability in regions with known cancer associated genes substantiates the importance of systematic evaluation of genetic variations in hiPSCs before using them as disease/research models.
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- 2020
34. Polygenic risk scores for dyslipidemia and atherosclerotic cardiovascular disease: Progress toward clinical implementation
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Levin, Michael G. and Rader, Daniel J.
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- 2023
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35. A saturated map of common genetic variants associated with human height
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Yengo, Loïc, Vedantam, Sailaja, Marouli, Eirini, Sidorenko, Julia, Bartell, Eric, Sakaue, Saori, Graff, Marielisa, Eliasen, Anders U., Jiang, Yunxuan, Raghavan, Sridharan, Miao, Jenkai, Arias, Joshua D., Graham, Sarah E., Mukamel, Ronen E., Spracklen, Cassandra N., Yin, Xianyong, Chen, Shyh-Huei, Ferreira, Teresa, Highland, Heather H., Ji, Yingjie, Karaderi, Tugce, Lin, Kuang, Lüll, Kreete, Malden, Deborah E., Medina-Gomez, Carolina, Machado, Moara, Moore, Amy, Rüeger, Sina, Sim, Xueling, Vrieze, Scott, Ahluwalia, Tarunveer S., Akiyama, Masato, Allison, Matthew A., Alvarez, Marcus, Andersen, Mette K., Ani, Alireza, Appadurai, Vivek, Arbeeva, Liubov, Bhaskar, Seema, Bielak, Lawrence F., Bollepalli, Sailalitha, Bonnycastle, Lori L., Bork-Jensen, Jette, Bradfield, Jonathan P., Bradford, Yuki, Braund, Peter S., Brody, Jennifer A., Burgdorf, Kristoffer S., Cade, Brian E., Cai, Hui, Cai, Qiuyin, Campbell, Archie, Cañadas-Garre, Marisa, Catamo, Eulalia, Chai, Jin-Fang, Chai, Xiaoran, Chang, Li-Ching, Chang, Yi-Cheng, Chen, Chien-Hsiun, Chesi, Alessandra, Choi, Seung Hoan, Chung, Ren-Hua, Cocca, Massimiliano, Concas, Maria Pina, Couture, Christian, Cuellar-Partida, Gabriel, Danning, Rebecca, Daw, E. Warwick, Degenhard, Frauke, Delgado, Graciela E., Delitala, Alessandro, Demirkan, Ayse, Deng, Xuan, Devineni, Poornima, Dietl, Alexander, Dimitriou, Maria, Dimitrov, Latchezar, Dorajoo, Rajkumar, Ekici, Arif B., Engmann, Jorgen E., Fairhurst-Hunter, Zammy, Farmaki, Aliki-Eleni, Faul, Jessica D., Fernandez-Lopez, Juan-Carlos, Forer, Lukas, Francescatto, Margherita, Freitag-Wolf, Sandra, Fuchsberger, Christian, Galesloot, Tessel E., Gao, Yan, Gao, Zishan, Geller, Frank, Giannakopoulou, Olga, Giulianini, Franco, Gjesing, Anette P., Goel, Anuj, Gordon, Scott D., Gorski, Mathias, Grove, Jakob, Guo, Xiuqing, Gustafsson, Stefan, Haessler, Jeffrey, Hansen, Thomas F., Havulinna, Aki S., Haworth, Simon J., He, Jing, Heard-Costa, Nancy, Hebbar, Prashantha, Hindy, George, Ho, Yuk-Lam A., Hofer, Edith, Holliday, Elizabeth, Horn, Katrin, Hornsby, Whitney E., Hottenga, Jouke-Jan, Huang, Hongyan, Huang, Jie, Huerta-Chagoya, Alicia, Huffman, Jennifer E., Hung, Yi-Jen, Huo, Shaofeng, Hwang, Mi Yeong, Iha, Hiroyuki, Ikeda, Daisuke D., Isono, Masato, Jackson, Anne U., Jäger, Susanne, Jansen, Iris E., Johansson, Ingegerd, Jonas, Jost B., Jonsson, Anna, Jørgensen, Torben, Kalafati, Ioanna-Panagiota, Kanai, Masahiro, Kanoni, Stavroula, Kårhus, Line L., Kasturiratne, Anuradhani, Katsuya, Tomohiro, Kawaguchi, Takahisa, Kember, Rachel L., Kentistou, Katherine A., Kim, Han-Na, Kim, Young Jin, Kleber, Marcus E., Knol, Maria J., Kurbasic, Azra, Lauzon, Marie, Le, Phuong, Lea, Rodney, Lee, Jong-Young, Leonard, Hampton L., Li, Shengchao A., Li, Xiaohui, Li, Xiaoyin, Liang, Jingjing, Lin, Honghuang, Lin, Shih-Yi, Liu, Jun, Liu, Xueping, Lo, Ken Sin, Long, Jirong, Lores-Motta, Laura, Luan, Jian’an, Lyssenko, Valeriya, Lyytikäinen, Leo-Pekka, Mahajan, Anubha, Mamakou, Vasiliki, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Mattheisen, Manuel, Mavarani, Laven, McDaid, Aaron F., Meidtner, Karina, Melendez, Tori L., Mercader, Josep M., Milaneschi, Yuri, Miller, Jason E., Millwood, Iona Y., Mishra, Pashupati P., Mitchell, Ruth E., Møllehave, Line T., Morgan, Anna, Mucha, Soeren, Munz, Matthias, Nakatochi, Masahiro, Nelson, Christopher P., Nethander, Maria, Nho, Chu Won, Nielsen, Aneta A., Nolte, Ilja M., Nongmaithem, Suraj S., Noordam, Raymond, Ntalla, Ioanna, Nutile, Teresa, Pandit, Anita, Christofidou, Paraskevi, Pärna, Katri, Pauper, Marc, Petersen, Eva R. B., Petersen, Liselotte V., Pitkänen, Niina, Polašek, Ozren, Poveda, Alaitz, Preuss, Michael H., Pyarajan, Saiju, Raffield, Laura M., Rakugi, Hiromi, Ramirez, Julia, Rasheed, Asif, Raven, Dennis, Rayner, Nigel W., Riveros, Carlos, Rohde, Rebecca, Ruggiero, Daniela, Ruotsalainen, Sanni E., Ryan, Kathleen A., Sabater-Lleal, Maria, Saxena, Richa, Scholz, Markus, Sendamarai, Anoop, Shen, Botong, Shi, Jingchunzi, Shin, Jae Hun, Sidore, Carlo, Sitlani, Colleen M., Slieker, Roderick C., Smit, Roelof A. J., Smith, Albert V., Smith, Jennifer A., Smyth, Laura J., Southam, Lorraine, Steinthorsdottir, Valgerdur, Sun, Liang, Takeuchi, Fumihiko, Tallapragada, Divya Sri Priyanka, Taylor, Kent D., Tayo, Bamidele O., Tcheandjieu, Catherine, Terzikhan, Natalie, Tesolin, Paola, Teumer, Alexander, Theusch, Elizabeth, Thompson, Deborah J., Thorleifsson, Gudmar, Timmers, Paul R. H. J., Trompet, Stella, Turman, Constance, Vaccargiu, Simona, van der Laan, Sander W., van der Most, Peter J., van Klinken, Jan B., van Setten, Jessica, Verma, Shefali S., Verweij, Niek, Veturi, Yogasudha, Wang, Carol A., Wang, Chaolong, Wang, Lihua, Wang, Zhe, Warren, Helen R., Bin Wei, Wen, Wickremasinghe, Ananda R., Wielscher, Matthias, Wiggins, Kerri L., Winsvold, Bendik S., Wong, Andrew, Wu, Yang, Wuttke, Matthias, Xia, Rui, Xie, Tian, Yamamoto, Ken, Yang, Jingyun, Yao, Jie, Young, Hannah, Yousri, Noha A., Yu, Lei, Zeng, Lingyao, Zhang, Weihua, Zhang, Xinyuan, Zhao, Jing-Hua, Zhao, Wei, Zhou, Wei, Zimmermann, Martina E., Zoledziewska, Magdalena, Adair, Linda S., Adams, Hieab H. H., Aguilar-Salinas, Carlos A., Al-Mulla, Fahd, Arnett, Donna K., Asselbergs, Folkert W., Åsvold, Bjørn Olav, Attia, John, Banas, Bernhard, Bandinelli, Stefania, Bennett, David A., Bergler, Tobias, Bharadwaj, Dwaipayan, Biino, Ginevra, Bisgaard, Hans, Boerwinkle, Eric, Böger, Carsten A., Bønnelykke, Klaus, Boomsma, Dorret I., Børglum, Anders D., Borja, Judith B., Bouchard, Claude, Bowden, Donald W., Brandslund, Ivan, Brumpton, Ben, Buring, Julie E., Caulfield, Mark J., Chambers, John C., Chandak, Giriraj R., Chanock, Stephen J., Chaturvedi, Nish, Chen, Yii-Der Ida, Chen, Zhengming, Cheng, Ching-Yu, Christophersen, Ingrid E., Ciullo, Marina, Cole, John W., Collins, Francis S., Cooper, Richard S., Cruz, Miguel, Cucca, Francesco, Cupples, L. Adrienne, Cutler, Michael J., Damrauer, Scott M., Dantoft, Thomas M., de Borst, Gert J., de Groot, Lisette C. P. G. M., De Jager, Philip L., de Kleijn, Dominique P. V., Janaka de Silva, H., Dedoussis, George V., den Hollander, Anneke I., Du, Shufa, Easton, Douglas F., Elders, Petra J. M., Eliassen, A. Heather, Ellinor, Patrick T., Elmståhl, Sölve, Erdmann, Jeanette, Evans, Michele K., Fatkin, Diane, Feenstra, Bjarke, Feitosa, Mary F., Ferrucci, Luigi, Ford, Ian, Fornage, Myriam, Franke, Andre, Franks, Paul W., Freedman, Barry I., Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Goddard, Michael E., Golightly, Yvonne M., Gonzalez-Villalpando, Clicerio, Gordon-Larsen, Penny, Grallert, Harald, Grant, Struan F. A., Grarup, Niels, Griffiths, Lyn, Gudnason, Vilmundur, Haiman, Christopher, Hakonarson, Hakon, Hansen, Torben, Hartman, Catharina A., Hattersley, Andrew T., Hayward, Caroline, Heckbert, Susan R., Heng, Chew-Kiat, Hengstenberg, Christian, Hewitt, Alex W., Hishigaki, Haretsugu, Hoyng, Carel B., Huang, Paul L., Huang, Wei, Hunt, Steven C., Hveem, Kristian, Hyppönen, Elina, Iacono, William G., Ichihara, Sahoko, Ikram, M. Arfan, Isasi, Carmen R., Jackson, Rebecca D., Jarvelin, Marjo-Riitta, Jin, Zi-Bing, Jöckel, Karl-Heinz, Joshi, Peter K., Jousilahti, Pekka, Jukema, J. Wouter, Kähönen, Mika, Kamatani, Yoichiro, Kang, Kui Dong, Kaprio, Jaakko, Kardia, Sharon L. R., Karpe, Fredrik, Kato, Norihiro, Kee, Frank, Kessler, Thorsten, Khera, Amit V., Khor, Chiea Chuen, Kiemeney, Lambertus A. L. M., Kim, Bong-Jo, Kim, Eung Kweon, Kim, Hyung-Lae, Kirchhof, Paulus, Kivimaki, Mika, Koh, Woon-Puay, Koistinen, Heikki A., Kolovou, Genovefa D., Kooner, Jaspal S., Kooperberg, Charles, Köttgen, Anna, Kovacs, Peter, Kraaijeveld, Adriaan, Kraft, Peter, Krauss, Ronald M., Kumari, Meena, Kutalik, Zoltan, Laakso, Markku, Lange, Leslie A., Langenberg, Claudia, Launer, Lenore J., Le Marchand, Loic, Lee, Hyejin, Lee, Nanette R., Lehtimäki, Terho, Li, Huaixing, Li, Liming, Lieb, Wolfgang, Lin, Xu, Lind, Lars, Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Loeffler, Markus, London, Barry, Lubitz, Steven A., Lye, Stephen J., Mackey, David A., Mägi, Reedik, Magnusson, Patrik K. E., Marcus, Gregory M., Vidal, Pedro Marques, Martin, Nicholas G., März, Winfried, Matsuda, Fumihiko, McGarrah, Robert W., McGue, Matt, McKnight, Amy Jayne, Medland, Sarah E., Mellström, Dan, Metspalu, Andres, Mitchell, Braxton D., Mitchell, Paul, Mook-Kanamori, Dennis O., Morris, Andrew D., Mucci, Lorelei A., Munroe, Patricia B., Nalls, Mike A., Nazarian, Saman, Nelson, Amanda E., Neville, Matt J., Newton-Cheh, Christopher, Nielsen, Christopher S., Nöthen, Markus M., Ohlsson, Claes, Oldehinkel, Albertine J., Orozco, Lorena, Pahkala, Katja, Pajukanta, Päivi, Palmer, Colin N. A., Parra, Esteban J., Pattaro, Cristian, Pedersen, Oluf, Pennell, Craig E., Penninx, Brenda W. J. H., Perusse, Louis, Peters, Annette, Peyser, Patricia A., Porteous, David J., Posthuma, Danielle, Power, Chris, Pramstaller, Peter P., Province, Michael A., Qi, Qibin, Qu, Jia, Rader, Daniel J., Raitakari, Olli T., Ralhan, Sarju, Rallidis, Loukianos S., Rao, Dabeeru C., Redline, Susan, Reilly, Dermot F., Reiner, Alexander P., Rhee, Sang Youl, Ridker, Paul M., Rienstra, Michiel, Ripatti, Samuli, Ritchie, Marylyn D., Roden, Dan M., Rosendaal, Frits R., Rotter, Jerome I., Rudan, Igor, Rutters, Femke, Sabanayagam, Charumathi, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sanghera, Dharambir K., Sattar, Naveed, Schmidt, Börge, Schmidt, Helena, Schmidt, Reinhold, Schulze, Matthias B., Schunkert, Heribert, Scott, Laura J., Scott, Rodney J., Sever, Peter, Shiroma, Eric J., Shoemaker, M. Benjamin, Shu, Xiao-Ou, Simonsick, Eleanor M., Sims, Mario, Singh, Jai Rup, Singleton, Andrew B., Sinner, Moritz F., Smith, J. Gustav, Snieder, Harold, Spector, Tim D., Stampfer, Meir J., Stark, Klaus J., Strachan, David P., ‘t Hart, Leen M., Tabara, Yasuharu, Tang, Hua, Tardif, Jean-Claude, Thanaraj, Thangavel A., Timpson, Nicholas J., Tönjes, Anke, Tremblay, Angelo, Tuomi, Tiinamaija, Tuomilehto, Jaakko, Tusié-Luna, Maria-Teresa, Uitterlinden, Andre G., van Dam, Rob M., van der Harst, Pim, Van der Velde, Nathalie, van Duijn, Cornelia M., van Schoor, Natasja M., Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Wacher-Rodarte, Niels H., Walker, Mark, Wang, Ya Xing, Wareham, Nicholas J., Watanabe, Richard M., Watkins, Hugh, Weir, David R., Werge, Thomas M., Widen, Elisabeth, Wilkens, Lynne R., Willemsen, Gonneke, Willett, Walter C., Wilson, James F., Wong, Tien-Yin, Woo, Jeong-Taek, Wright, Alan F., Wu, Jer-Yuarn, Xu, Huichun, Yajnik, Chittaranjan S., Yokota, Mitsuhiro, Yuan, Jian-Min, Zeggini, Eleftheria, Zemel, Babette S., Zheng, Wei, Zhu, Xiaofeng, Zmuda, Joseph M., Zonderman, Alan B., Zwart, John-Anker, Chasman, Daniel I., Cho, Yoon Shin, Heid, Iris M., McCarthy, Mark I., Ng, Maggie C. Y., O’Donnell, Christopher J., Rivadeneira, Fernando, Thorsteinsdottir, Unnur, Sun, Yan V., Tai, E. Shyong, Boehnke, Michael, Deloukas, Panos, Justice, Anne E., Lindgren, Cecilia M., Loos, Ruth J. F., Mohlke, Karen L., North, Kari E., Stefansson, Kari, Walters, Robin G., Winkler, Thomas W., Young, Kristin L., Loh, Po-Ru, Yang, Jian, Esko, Tõnu, Assimes, Themistocles L., Auton, Adam, Abecasis, Goncalo R., Willer, Cristen J., Locke, Adam E., Berndt, Sonja I., Lettre, Guillaume, Frayling, Timothy M., Okada, Yukinori, Wood, Andrew R., Visscher, Peter M., and Hirschhorn, Joel N.
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- 2022
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36. Abstract 18244: A Multi-Ancestry GWAS of Calcific Aortic Stenosis Among 2.7 Million Individuals
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Small, Aeron M, Dufresne, Line, Farber-Eger, Eric, Abner, Erik, Corey, Kristin, Stefánsson, Kári, Nadauld, Lincoln, Bundgaard, Henning, Lee, Jiwoo, Schumacher, Johannes, Trenkwalder, Teresa, Soderberg, Stefan, Ganna, Andrea, Rader, Daniel J, Moksnes, Marta Riise, Lin, Meng, Laporte, Fabien, Larsson, Susanna, Smith, Gustav, Do, Ron, Ito, Kaoru, Holm, Hilma, Sun, Yan, Kim, Kelly, WILSON, PETER, Odonnell, Christopher J, Peloso, Gina, Engert, Jamie C, Thanassoulis, George, and Natarajan, Pradeep
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- 2023
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37. Abstract 17566: Prevalence of Lipoprotein(a) Testing Among Patients With CAD: A 10-year Retrospective Analysis at The University of Pennsylvania Health Systems
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Parvathinathan, Lakshmi, Risman, Marjorie, Alsattari, Ahmad, Rader, Daniel J, and Bajaj, Archna
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- 2023
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38. Abstract 12466: Targeted Quantitative Plasma Metabolomics Identifies Metabolite Signatures That Distinguish Heart Failure With Reduced and Preserved Ejection Fraction
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Naeem, Fawaz, Leone, Teresa, Petucci, Christopher, Groarke, John D, Bennett, Donald, Mancuso, Jessica, Tzameli, Iphigenia, Roth Flach, Rachel J, Rader, Daniel J, and Kelly, Daniel P
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- 2023
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39. Targeting the coronavirus nucleocapsid protein through GSK-3 inhibition
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Liu, Xiaolei, Verma, Anurag, Garcia, Gustavo, Ramage, Holly, Lucas, Anastasia, Myers, Rebecca L., Michaelson, Jacob J., Coryell, William, Kumar, Arvind, Charney, Alexander W., Kazanietz, Marcelo G., Rader, Daniel J., Ritchie, Marylyn D., Berrettini, Wade H., Schultz, David C., Cherry, Sara, Damoiseaux, Robert, Arumugaswami, Vaithilingaraja, and Klein, Peter S.
- Published
- 2021
40. “PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black Patients”
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Cappadocia, Jacqueline, primary, Aiello, Lisa B., additional, Kelley, Michael J., additional, Katona, Bryson W., additional, Maxwell, Kara N., additional, Verma, Anurag, additional, Verma, Shefali S., additional, Bradford, Yuki, additional, Brock, Ashlei, additional, DerOhannessian, Stephanie, additional, Dudek, Scott, additional, Dunn, Joseph, additional, Drivas, Theodore, additional, Haubein, Ned, additional, Hu-Sain, Khadijah, additional, Judy, Renae, additional, Kloter, Ashley, additional, Ko, Yi-An, additional, Livingstone, Meghan, additional, Morrel, Linda, additional, Morse, Colleen, additional, Poindexter, Afiya, additional, Risman, Marjorie, additional, Tran, Teo, additional, Vadivieso, Fred, additional, Weaver, JoEllen, additional, Rader, Daniel J., additional, Ritchie, Marylyn D., additional, Feldman, Michael D., additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Overton, John D., additional, Padilla, Maria Sotiropoulos, additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Schleicher, Thomas D., additional, Widom, Louis, additional, Wolf, Sarah E., additional, Ulloa, Ricardo H., additional, Averitt, Amelia, additional, Banerjee, Nilanjana, additional, Cantor, Michael, additional, Li, Dadong, additional, Malhotra, Sameer, additional, Sharma, Deepika, additional, Staples, Jeffrey, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Bao, Suying, additional, Boutkov, Boris, additional, Chen, Siying, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Mitra, George, additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Reid, Jeffrey G., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Sun, Kathie, additional, Abecasis, Goncalo, additional, Backman, Joshua, additional, Damask, Amy, additional, Dobbyn, Lee, additional, Revez Ferreira, Manuel Allen, additional, Ghosh, Arkopravo, additional, Gillies, Christopher, additional, Gurski, Lauren, additional, Jorgenson, Eric, additional, Kang, Hyun Min, additional, Kessler, Michael, additional, Kosmicki, Jack, additional, Li, Alexander, additional, Lin, Nan, additional, Liu, Daren, additional, Locke, Adam, additional, Marchini, Jonathan, additional, Marcketta, Anthony, additional, Mbatchou, Joelle, additional, Moscati, Arden, additional, Paulding, Charles, additional, Sidore, Carlo, additional, Stahl, Eli, additional, Watanabe, Kyoko, additional, Ye, Bin, additional, Zhang, Blair, additional, Ziyatdinov, Andrey, additional, Ayer, Ariane, additional, Guvenek, Aysegul, additional, Hindy, George, additional, Coppola, Giovanni, additional, Freudenberg, Jan, additional, Bovijn, Jonas, additional, Siminovitch, Katherine, additional, Praveen, Kavita, additional, Lotta, Luca A., additional, Kapoor, Manav, additional, Haas, Mary, additional, Riaz, Moeen, additional, Verweij, Niek, additional, Sosina, Olukayode, additional, Akbari, Parsa, additional, Nakka, Priyanka, additional, Gelfman, Sahar, additional, Gokhale, Sujit, additional, De, Tanima, additional, Rajagopal, Veera, additional, Shuldiner, Alan, additional, Tzoneva, Gannie, additional, Rodriguez-Flores, Juan, additional, Chen, Esteban, additional, Jones, Marcus B., additional, LeBlanc, Michelle G., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nishtala, Nirupama, additional, Rana, Nadia, additional, Hernandez, Jaimee, additional, Baras, Aris, additional, Deubler, Andrew, additional, and Economides, Aris, additional
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- 2024
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41. Large-scale genome-wide association study of coronary artery disease in genetically diverse populations
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Tcheandjieu, Catherine, Zhu, Xiang, Hilliard, Austin T., Clarke, Shoa L., Napolioni, Valerio, Ma, Shining, Lee, Kyung Min, Fang, Huaying, Chen, Fei, Lu, Yingchang, Tsao, Noah L., Raghavan, Sridharan, Koyama, Satoshi, Gorman, Bryan R., Vujkovic, Marijana, Klarin, Derek, Levin, Michael G., Sinnott-Armstrong, Nasa, Wojcik, Genevieve L., Plomondon, Mary E., Maddox, Thomas M., Waldo, Stephen W., Bick, Alexander G., Pyarajan, Saiju, Huang, Jie, Song, Rebecca, Ho, Yuk-Lam, Buyske, Steven, Kooperberg, Charles, Haessler, Jeffrey, Loos, Ruth J. F., Do, Ron, Verbanck, Marie, Chaudhary, Kumardeep, North, Kari E., Avery, Christy L., Graff, Mariaelisa, Haiman, Christopher A., Le Marchand, Loïc, Wilkens, Lynne R., Bis, Joshua C., Leonard, Hampton, Shen, Botong, Lange, Leslie A., Giri, Ayush, Dikilitas, Ozan, Kullo, Iftikhar J., Stanaway, Ian B., Jarvik, Gail P., Gordon, Adam S., Hebbring, Scott, Namjou, Bahram, Kaufman, Kenneth M., Ito, Kaoru, Ishigaki, Kazuyoshi, Kamatani, Yoichiro, Verma, Shefali S., Ritchie, Marylyn D., Kember, Rachel L., Baras, Aris, Lotta, Luca A., Kathiresan, Sekar, Hauser, Elizabeth R., Miller, Donald R., Lee, Jennifer S., Saleheen, Danish, Reaven, Peter D., Cho, Kelly, Gaziano, J. Michael, Natarajan, Pradeep, Huffman, Jennifer E., Voight, Benjamin F., Rader, Daniel J., Chang, Kyong-Mi, Lynch, Julie A., Damrauer, Scott M., Wilson, Peter W. F., Tang, Hua, Sun, Yan V., Tsao, Philip S., O’Donnell, Christopher J., and Assimes, Themistocles L.
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- 2022
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42. Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries
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Banday, A. Rouf, Stanifer, Megan L., Florez-Vargas, Oscar, Onabajo, Olusegun O., Papenberg, Brenen W., Zahoor, Muhammad A., Mirabello, Lisa, Ring, Timothy J., Lee, Chia-Han, Albert, Paul S., Andreakos, Evangelos, Arons, Evgeny, Barsh, Greg, Biesecker, Leslie G., Boyle, David L., Brahier, Mark S., Burnett-Hartman, Andrea, Carrington, Mary, Chang, Euijin, Choe, Pyoeng Gyun, Chisholm, Rex L., Colli, Leandro M., Dalgard, Clifton L., Dude, Carolynn M., Edberg, Jeff, Erdmann, Nathan, Feigelson, Heather S., Fonseca, Benedito A., Firestein, Gary S., Gehring, Adam J., Guo, Cuncai, Ho, Michelle, Holland, Steven, Hutchinson, Amy A., Im, Hogune, Irby, Les’Shon, Ison, Michael G., Joseph, Naima T., Kim, Hong Bin, Kreitman, Robert J., Korf, Bruce R., Lipkin, Steven M., Mahgoub, Siham M., Mohammed, Iman, Paschoalini, Guilherme L., Pacheco, Jennifer A., Peluso, Michael J., Rader, Daniel J., Redden, David T., Ritchie, Marylyn D., Rosenblum, Brooke, Ross, M. Elizabeth, Anna, Hanaisa P. Sant, Savage, Sharon A., Sharma, Sudha, Siouti, Eleni, Smith, Alicia K., Triantafyllia, Vasiliki, Vargas, Joselin M., Vargas, Jose D., Verma, Anurag, Vij, Vibha, Wesemann, Duane R., Yeager, Meredith, Yu, Xu, Zhang, Yu, Boulant, Steeve, Chanock, Stephen J., Feld, Jordan J., and Prokunina-Olsson, Ludmila
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- 2022
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43. Whole-genome sequencing reveals host factors underlying critical COVID-19
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Kousathanas, Athanasios, Pairo-Castineira, Erola, Rawlik, Konrad, Stuckey, Alex, Odhams, Christopher A., Walker, Susan, Russell, Clark D., Malinauskas, Tomas, Wu, Yang, Millar, Jonathan, Shen, Xia, Elliott, Katherine S., Griffiths, Fiona, Oosthuyzen, Wilna, Morrice, Kirstie, Keating, Sean, Wang, Bo, Rhodes, Daniel, Klaric, Lucija, Zechner, Marie, Parkinson, Nick, Siddiq, Afshan, Goddard, Peter, Donovan, Sally, Maslove, David, Nichol, Alistair, Semple, Malcolm G., Zainy, Tala, Maleady-Crowe, Fiona, Todd, Linda, Salehi, Shahla, Knight, Julian, Elgar, Greg, Chan, Georgia, Arumugam, Prabhu, Patch, Christine, Rendon, Augusto, Bentley, David, Kingsley, Clare, Kosmicki, Jack A., Horowitz, Julie E., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A. R., Justice, Anne, Mirshahi, Tooraj, Oetjens, Matthew, Rader, Daniel J., Ritchie, Marylyn D., Verma, Anurag, Fowler, Tom A., Shankar-Hari, Manu, Summers, Charlotte, Hinds, Charles, Horby, Peter, Ling, Lowell, McAuley, Danny, Montgomery, Hugh, Openshaw, Peter J. M., Elliott, Paul, Walsh, Timothy, Tenesa, Albert, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Ponting, Chris P., Vitart, Veronique, Wilson, James F., Yang, Jian, Bretherick, Andrew D., Scott, Richard H., Hendry, Sara Clohisey, Moutsianas, Loukas, Law, Andy, Caulfield, Mark J., and Baillie, J. Kenneth
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- 2022
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44. High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease
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Tcheandjieu, Catherine, Xiao, Ke, Tejeda, Helio, Lynch, Julie A., Ruotsalainen, Sanni, Bellomo, Tiffany, Palnati, Madhuri, Judy, Renae, Klarin, Derek, Kember, Rachel L., Verma, Shefali, Palotie, Aarno, Daly, Mark, Ritchie, Marylyn, Rader, Daniel J., Rivas, Manuel A., Assimes, Themistocles, Tsao, Philip, Damrauer, Scott, and Priest, James R.
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- 2022
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45. Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank
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Park, Joseph, MacLean, Matthew T., Lucas, Anastasia M., Torigian, Drew A., Schneider, Carolin V., Cherlin, Tess, Xiao, Brenda, Miller, Jason E., Bradford, Yuki, Judy, Renae L., Verma, Anurag, Damrauer, Scott M., Ritchie, Marylyn D., Witschey, Walter R., and Rader, Daniel J.
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- 2022
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46. Meta-analysis fine-mapping is often miscalibrated at single-variant resolution
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Zhou, Wei, Kanai, Masahiro, Wu, Kuan-Han H., Rasheed, Humaira, Tsuo, Kristin, Hirbo, Jibril B., Wang, Ying, Bhattacharya, Arjun, Zhao, Huiling, Namba, Shinichi, Surakka, Ida, Wolford, Brooke N., Lo Faro, Valeria, Lopera-Maya, Esteban A., Läll, Kristi, Favé, Marie-Julie, Partanen, Juulia J., Chapman, Sinéad B., Karjalainen, Juha, Kurki, Mitja, Maasha, Mutaamba, Brumpton, Ben M., Chavan, Sameer, Chen, Tzu-Ting, Daya, Michelle, Ding, Yi, Feng, Yen-Chen A., Guare, Lindsay A., Gignoux, Christopher R., Graham, Sarah E., Hornsby, Whitney E., Ingold, Nathan, Ismail, Said I., Johnson, Ruth, Laisk, Triin, Lin, Kuang, Lv, Jun, Millwood, Iona Y., Moreno-Grau, Sonia, Nam, Kisung, Palta, Priit, Pandit, Anita, Preuss, Michael H., Saad, Chadi, Setia-Verma, Shefali, Thorsteinsdottir, Unnur, Uzunovic, Jasmina, Verma, Anurag, Zawistowski, Matthew, Zhong, Xue, Afifi, Nahla, Al-Dabhani, Kawthar M., Al Thani, Asma, Bradford, Yuki, Campbell, Archie, Crooks, Kristy, de Bock, Geertruida H., Damrauer, Scott M., Douville, Nicholas J., Finer, Sarah, Fritsche, Lars G., Fthenou, Eleni, Gonzalez-Arroyo, Gilberto, Griffiths, Christopher J., Guo, Yu, Hunt, Karen A., Ioannidis, Alexander, Jansonius, Nomdo M., Konuma, Takahiro, Michael Lee, Ming Ta, Lopez-Pineda, Arturo, Matsuda, Yuta, Marioni, Riccardo E., Moatamed, Babak, Nava-Aguilar, Marco A., Numakura, Kensuke, Patil, Snehal, Rafaels, Nicholas, Richmond, Anne, Rojas-Muñoz, Agustin, Shortt, Jonathan A., Straub, Peter, Tao, Ran, Vanderwerff, Brett, Vernekar, Manvi, Veturi, Yogasudha, Barnes, Kathleen C., Boezen, Marike, Chen, Zhengming, Chen, Chia-Yen, Cho, Judy, Smith, George Davey, Finucane, Hilary K., Franke, Lude, Gamazon, Eric R., Ganna, Andrea, Gaunt, Tom R., Ge, Tian, Huang, Hailiang, Huffman, Jennifer, Katsanis, Nicholas, Koskela, Jukka T., Lajonchere, Clara, Law, Matthew H., Li, Liming, Lindgren, Cecilia M., Loos, Ruth J.F., MacGregor, Stuart, Matsuda, Koichi, Olsen, Catherine M., Porteous, David J., Shavit, Jordan A., Snieder, Harold, Takano, Tomohiro, Trembath, Richard C., Vonk, Judith M., Whiteman, David C., Wicks, Stephen J., Wijmenga, Cisca, Wright, John, Zheng, Jie, Zhou, Xiang, Awadalla, Philip, Boehnke, Michael, Bustamante, Carlos D., Cox, Nancy J., Fatumo, Segun, Geschwind, Daniel H., Hayward, Caroline, Hveem, Kristian, Kenny, Eimear E., Lee, Seunggeun, Lin, Yen-Feng, Mbarek, Hamdi, Mägi, Reedik, Martin, Hilary C., Medland, Sarah E., Okada, Yukinori, Palotie, Aarno V., Pasaniuc, Bogdan, Rader, Daniel J., Ritchie, Marylyn D., Sanna, Serena, Smoller, Jordan W., Stefansson, Kari, van Heel, David A., Walters, Robin G., Zöllner, Sebastian, Biobank of the Americas, Biobank Japan Project, BioMe, BioVU, CanPath - Ontario Health Study, China Kadoorie Biobank Collaborative Group, Colorado Center for Personalized Medicine, deCODE Genetics, Estonian Biobank, FinnGen, Generation Scotland, Genes & Health Research Team, LifeLines, Mass General Brigham Biobank, Michigan Genomics Initiative, National Biobank of Korea, Penn Medicine BioBank, Qatar Biobank, The Qskin Sun and Health Study, Taiwan Biobank, The Hunt Study, Ucla Atlas Community Health Initiative, Uganda Genome Resource, Uk Biobank, Martin, Alicia R., Willer, Cristen J., Daly, Mark J., Neale, Benjamin M., and Elzur, Roy
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- 2022
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47. Guidance for the diagnosis and treatment of hypolipidemia disorders
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Bredefeld, Cindy, Hussain, M. Mahmood, Averna, Maurizio, Black, Dennis D., Brin, Mitchell F., Burnett, John R., Charrière, Sybil, Cuerq, Charlotte, Davidson, Nicholas O., Deckelbaum, Richard J., Goldberg, Ira J., Granot, Esther, Hegele, Robert A., Ishibashi, Shun, Karmally, Wahida, Levy, Emile, Moulin, Philippe, Okazaki, Hiroaki, Poinsot, Pierre, Rader, Daniel J., Takahashi, Manabu, Tarugi, Patrizia, Traber, Maret G., Di Filippo, Mathilde, and Peretti, Noel
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- 2022
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48. Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
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Zhou, Wei, Kanai, Masahiro, Wu, Kuan-Han H., Rasheed, Humaira, Tsuo, Kristin, Hirbo, Jibril B., Wang, Ying, Bhattacharya, Arjun, Zhao, Huiling, Namba, Shinichi, Surakka, Ida, Wolford, Brooke N., Lo Faro, Valeria, Lopera-Maya, Esteban A., Läll, Kristi, Favé, Marie-Julie, Partanen, Juulia J., Chapman, Sinéad B., Karjalainen, Juha, Kurki, Mitja, Maasha, Mutaamba, Brumpton, Ben M., Chavan, Sameer, Chen, Tzu-Ting, Daya, Michelle, Ding, Yi, Feng, Yen-Chen A., Guare, Lindsay A., Gignoux, Christopher R., Graham, Sarah E., Hornsby, Whitney E., Ingold, Nathan, Ismail, Said I., Johnson, Ruth, Laisk, Triin, Lin, Kuang, Lv, Jun, Millwood, Iona Y., Moreno-Grau, Sonia, Nam, Kisung, Palta, Priit, Pandit, Anita, Preuss, Michael H., Saad, Chadi, Setia-Verma, Shefali, Thorsteinsdottir, Unnur, Uzunovic, Jasmina, Verma, Anurag, Zawistowski, Matthew, Zhong, Xue, Afifi, Nahla, Al-Dabhani, Kawthar M., Al Thani, Asma, Bradford, Yuki, Campbell, Archie, Crooks, Kristy, de Bock, Geertruida H., Damrauer, Scott M., Douville, Nicholas J., Finer, Sarah, Fritsche, Lars G., Fthenou, Eleni, Gonzalez-Arroyo, Gilberto, Griffiths, Christopher J., Guo, Yu, Hunt, Karen A., Ioannidis, Alexander, Jansonius, Nomdo M., Konuma, Takahiro, Lee, Ming Ta Michael, Lopez-Pineda, Arturo, Matsuda, Yuta, Marioni, Riccardo E., Moatamed, Babak, Nava-Aguilar, Marco A., Numakura, Kensuke, Patil, Snehal, Rafaels, Nicholas, Richmond, Anne, Rojas-Muñoz, Agustin, Shortt, Jonathan A., Straub, Peter, Tao, Ran, Vanderwerff, Brett, Vernekar, Manvi, Veturi, Yogasudha, Barnes, Kathleen C., Boezen, Marike, Chen, Zhengming, Chen, Chia-Yen, Cho, Judy, Smith, George Davey, Finucane, Hilary K., Franke, Lude, Gamazon, Eric R., Ganna, Andrea, Gaunt, Tom R., Ge, Tian, Huang, Hailiang, Huffman, Jennifer, Katsanis, Nicholas, Koskela, Jukka T., Lajonchere, Clara, Law, Matthew H., Li, Liming, Lindgren, Cecilia M., Loos, Ruth J.F., MacGregor, Stuart, Matsuda, Koichi, Olsen, Catherine M., Porteous, David J., Shavit, Jordan A., Snieder, Harold, Takano, Tomohiro, Trembath, Richard C., Vonk, Judith M., Whiteman, David C., Wicks, Stephen J., Wijmenga, Cisca, Wright, John, Zheng, Jie, Zhou, Xiang, Awadalla, Philip, Boehnke, Michael, Bustamante, Carlos D., Cox, Nancy J., Fatumo, Segun, Geschwind, Daniel H., Hayward, Caroline, Hveem, Kristian, Kenny, Eimear E., Lee, Seunggeun, Lin, Yen-Feng, Mbarek, Hamdi, Mägi, Reedik, Martin, Hilary C., Medland, Sarah E., Okada, Yukinori, Palotie, Aarno V., Pasaniuc, Bogdan, Rader, Daniel J., Ritchie, Marylyn D., Sanna, Serena, Smoller, Jordan W., Stefansson, Kari, van Heel, David A., Walters, Robin G., Zöllner, Sebastian, Martin, Alicia R., Willer, Cristen J., Daly, Mark J., and Neale, Benjamin M.
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- 2022
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49. Decrease in Angiotensin-Converting Enzyme activity but not concentration in plasma/lungs in COVID-19 patients offers clues for diagnosis/treatment
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Daniell, Henry, Nair, Smruti K., Shi, Yao, Wang, Ping, Montone, Kathleen T., Shaw, Pamela A., Choi, Grace H., Ghani, Danyal, Weaver, JoEllen, Rader, Daniel J., Margulies, Kenneth B., Collman, Ronald G., Laudanski, Krzysztof, and Bar, Katharine J.
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- 2022
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50. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
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Ramdas, Shweta, Judd, Jonathan, Graham, Sarah E., Kanoni, Stavroula, Wang, Yuxuan, Surakka, Ida, Wenz, Brandon, Clarke, Shoa L., Chesi, Alessandra, Wells, Andrew, Bhatti, Konain Fatima, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Zajac, Greg J.M., Wu, Kuan-Han H., Ntalla, Ioanna, Hui, Qin, Klarin, Derek, Hilliard, Austin T., Wang, Zeyuan, Xue, Chao, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Hwang, Mi Yeong, Han, Sohee, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Havulinna, Aki S., Veturi, Yogasudha, Pacheco, Jennifer Allen, Rosenthal, Elisabeth A., Lingren, Todd, Feng, QiPing, Kullo, Iftikhar J., Narita, Akira, Takayama, Jun, Martin, Hilary C., Hunt, Karen A., Trivedi, Bhavi, Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Rasheed, Asif, Hindy, George, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Choudhury, Ananyo, Sengupta, Dhriti, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Bjerregaard, Anne A., Yao, Jie, Manichaikul, Ani, Lee, Wen-Jane, Hsiung, Chao Agnes, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Mauro, Pala, Matteo, Floris, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Schönherr, Sebastian, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Ruotsalainen, Sanni E., Daw, E. Warwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Le, Phuong, Feitosa, Mary F., Wojczynski, Mary K., Hemerich, Daiane, Preuss, Michael, Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Noah, Tsao L., Verma, Anurag, Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Demirkan, Ayşe, Leonard, Hampton L., Marten, Jonathan, Emmel, Carina, Schmidt, Börge, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Nongmaithem, Suraj S., Sankareswaran, Alagu, Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R.H.J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Banas, Bernhard, Morgan, Anna, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Bentley, Amy R., Doumatey, Ayo P., Adeyemo, Adebowale A., Lee, Jong Young, Petersen, Eva R.B., Nielsen, Aneta A., Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hidalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, He, Karen Y., Tang, Hua, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H.H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W.J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Ida Chen, Yii-Der, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Zimmermann, Martina E., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Peyser, Patricia A., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Böger, Carsten A., Jung, Bettina, Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, den Hollander, Anneke I., Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D.C., Arnett, Donna K., Walker, Mark, Scott, Laura J., Koistinen, Heikki A., Chandak, Giriraj R., Mercader, Josep M., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, E. Shyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N.A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Jin, Zi-Bing, Lu, Fan, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, t Hart, Leen M., Elders, Petra J.M., Rader, Daniel J., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J.F., Province, Michael A., Parra, Esteban J., Cruz, Miguel, Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Rotimi, Charles N., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F.A., Kiemeney, Lambertus, de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Francesco, Cucca, Mook-Kanamori, Dennis O., Willems van Dijk, Ko, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Huey-Herng Sheu, Wayne, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Li, Hengtong, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K.E., Boomsma, Dorret I., de Geus, Eco J.C., Cupples, L. Adrienne, van Meurs, Joyce B.J., Ikram, Arfan, Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Tuomilehto, Jaakko, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., Hazelhurst, Scott, Ramsay, Michèle, North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Baras, Aris, Justice, Anne E., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Tamiya, Gen, Yamamoto, Masayuki, van Heel, David A., Trembath, Richard C., Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Kim, Bong-Jo, Thorsteinsdottir, Unnur, Stefansson, Kari, Zhang, Jifeng, Chen, Y. Eugene, Ho, Yuk-Lam, Lynch, Julie A., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O'Donnell, Christopher J., Gaziano, John M., Wilson, Peter, Mohlke, Karen L., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Boehnke, Michael, Struan Grant, Natarajan, Pradeep, Sun, Yan V., Morris, Andrew P., Deloukas, Panos, Peloso, Gina, Assimes, Themistocles L., Willer, Cristen J., Zhu, Xiang, and Brown, Christopher D.
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- 2022
- Full Text
- View/download PDF
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