Leveraging type 1 diabetes human genetic and genomic data in the T1D knowledge portal

por Kudtarkar, Parul, Costanzo, Maria C., Sun, Ying, Jang, Dongkeun, Koesterer, Ryan, Mychaleckyj, Josyf C., Nayak, Uma, Onengut-Gumuscu, Suna, Rich, Stephen S., Flannick, Jason A., Gaulton, Kyle J., Burtt, Noël P.
Publicado 2023

Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal

por Kudtarkar, Parul, Costanzo, Maria C., Sun, Ying, Jang, Dongkeun, Koesterer, Ryan, Mychaleckyj, Josyf C, Nayak, Uma, Onengut-Gumuscu, Suna, Rich, Stephen S, Flannick, Jason A, Gaulton, Kyle J, Burtt, Noël P
Publicado 2023

A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the Multiethnic...

por Lee, Sulggi A, Haiman, Christopher A, Burtt, Noel P, Pooler, Loreall C, Cheng, Iona, Kolonel, Laurence N, Pike, Malcolm C, Altshuler, David, Hirschhorn, Joel N, Henderson, Brian E, Stram, Daniel O
Publicado 2007

A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study

por Kathiresan, Sekar, Manning, Alisa K, Demissie, Serkalem, D'Agostino, Ralph B, Surti, Aarti, Guiducci, Candace, Gianniny, Lauren, Burtt, Nöel P, Melander, Olle, Orho-Melander, Marju, Arnett, Donna K, Peloso, Gina M, Ordovas, Jose M, Cupples, L Adrienne
Publicado 2007

Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs

por Han, Seong Kyu, McNulty, Michelle T., Benway, Christopher J., Wen, Pei, Greenberg, Anya, Onuchic-Whitford, Ana C., Jang, Dongkeun, Flannick, Jason, Burtt, Noël P., Wilson, Parker C., Humphreys, Benjamin D., Wen, Xiaoquan, Han, Zhe, Lee, Dongwon, Sampson, Matthew G.
Publicado 2023

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

por Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel A, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J, Thorburn, David R, Mootha, Vamsi K
Publicado 2010

Genetic Variation in the HSD17B1 Gene and Risk of Prostate Cancer

por Kraft, Peter, Pharoah, Paul, Chanock, Stephen J, Albanes, Demetrius, Kolonel, Laurence N, Hayes, Richard B, Altshuler, David, Andriole, Gerald, Berg, Christine, Boeing, Heiner, Burtt, Noel P, Bueno-de-Mesquita, Bas, Calle, Eugenia E, Cann, Howard, Canzian, Federico, Chen, Yen-Ching, Crawford, David E, Dunning, Alison M, Feigelson, Heather S, Freedman, Matthew L, Gaziano, John M, Giovannucci, Ed, Gonzalez, Carlos Alberto, Haiman, Christopher A, Hallmans, Goran, Henderson, Brian E, Hirschhorn, Joel N, Hunter, David J, Kaaks, Rudolf, Key, Timothy, Marchand, Loic Le, Ma, Jing, Overvad, Kim, Palli, Domenico, Pike, Malcolm C, Riboli, Elio, Rodriguez, Carmen, Setiawan, Wendy V, Stampfer, Meir J, Stram, Daniel O, Thomas, Gilles, Thun, Michael J, Travis, Ruth, Trichopoulou, Antonia, Virtamo, Jarmo, Wacholder, Sholom
Publicado 2005

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

por Voight, Benjamin F., Kang, Hyun Min, Ding, Jun, Palmer, Cameron D., Sidore, Carlo, Chines, Peter S., Burtt, Noël P., Fuchsberger, Christian, Li, Yanming, Erdmann, Jeanette, Frayling, Timothy M., Heid, Iris M., Jackson, Anne U., Johnson, Toby, Kilpeläinen, Tuomas O., Lindgren, Cecilia M., Morris, Andrew P., Prokopenko, Inga, Randall, Joshua C., Saxena, Richa, Soranzo, Nicole, Speliotes, Elizabeth K., Teslovich, Tanya M., Wheeler, Eleanor, Maguire, Jared, Parkin, Melissa, Potter, Simon, Rayner, N. William, Robertson, Neil, Stirrups, Kathleen, Winckler, Wendy, Sanna, Serena, Mulas, Antonella, Nagaraja, Ramaiah, Cucca, Francesco, Barroso, Inês, Deloukas, Panos, Loos, Ruth J. F., Kathiresan, Sekar, Munroe, Patricia B., Newton-Cheh, Christopher, Pfeufer, Arne, Samani, Nilesh J., Schunkert, Heribert, Hirschhorn, Joel N., Altshuler, David, McCarthy, Mark I., Abecasis, Gonçalo R., Boehnke, Michael
Publicado 2012

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

por Voight, Benjamin F., Kang, Hyun Min, Ding, Jun, Palmer, Cameron D., Sidore, Carlo, Chines, Peter S., Burtt, Noël P., Fuchsberger, Christian, Li, Yanming, Erdmann, Jeanette, Frayling, Timothy M., Heid, Iris M., Jackson, Anne U., Johnson, Toby, Kilpeläinen, Tuomas O., Lindgren, Cecilia M., Morris, Andrew P., Prokopenko, Inga, Randall, Joshua C., Saxena, Richa, Soranzo, Nicole, Speliotes, Elizabeth K., Teslovich, Tanya M., Wheeler, Eleanor, Maguire, Jared, Parkin, Melissa, Potter, Simon, Rayner, N. William, Robertson, Neil, Stirrups, Kathleen, Winckler, Wendy, Sanna, Serena, Mulas, Antonella, Nagaraja, Ramaiah, Cucca, Francesco, Barroso, Inês, Deloukas, Panos, Loos, Ruth J. F., Kathiresan, Sekar, Munroe, Patricia B., Newton-Cheh, Christopher, Pfeufer, Arne, Samani, Nilesh J., Schunkert, Heribert, Hirschhorn, Joel N., Altshuler, David, McCarthy, Mark I., Abecasis, Gonçalo R., Boehnke, Michael
Publicado 2013

Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics)...

por Palmer, Nicholette D., Goodarzi, Mark O., Langefeld, Carl D., Wang, Nan, Guo, Xiuqing, Taylor, Kent D., Fingerlin, Tasha E., Norris, Jill M., Buchanan, Thomas A., Xiang, Anny H., Haritunians, Talin, Ziegler, Julie T., Williams, Adrienne H., Stefanovski, Darko, Cui, Jinrui, Mackay, Adrienne W., Henkin, Leora F., Bergman, Richard N., Gao, Xiaoyi, Gauderman, James, Varma, Rohit, Hanis, Craig L., Cox, Nancy J., Highland, Heather M., Below, Jennifer E., Williams, Amy L., Burtt, Noel P., Aguilar-Salinas, Carlos A., Huerta-Chagoya, Alicia, Gonzalez-Villalpando, Clicerio, Orozco, Lorena, Haiman, Christopher A., Tsai, Michael Y., Johnson, W. Craig, Yao, Jie, Rasmussen-Torvik, Laura, Pankow, James, Snively, Beverly, Jackson, Rebecca D., Liu, Simin, Nadler, Jerry L., Kandeel, Fouad, Chen, Yii-Der I., Bowden, Donald W., Rich, Stephen S., Raffel, Leslie J., Rotter, Jerome I., Watanabe, Richard M., Wagenknecht, Lynne E.
Publicado 2015

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

por Horikoshi, Momoko, Pasquali, Lorenzo, Wiltshire, Steven, Huyghe, Jeroen R., Mahajan, Anubha, Asimit, Jennifer L., Ferreira, Teresa, Locke, Adam E., Robertson, Neil R., Wang, Xu, Sim, Xueling, Fujita, Hayato, Hara, Kazuo, Young, Robin, Zhang, Weihua, Choi, Sungkyoung, Chen, Han, Kaur, Ismeet, Takeuchi, Fumihiko, Fontanillas, Pierre, Thuillier, Dorothée, Yengo, Loic, Below, Jennifer E., Tam, Claudia H.T., Wu, Ying, Abecasis, Gonçalo, Altshuler, David, Bell, Graeme I., Blangero, John, Burtt, Noél P., Duggirala, Ravindranath, Florez, Jose C., Hanis, Craig L., Seielstad, Mark, Atzmon, Gil, Chan, Juliana C.N., Ma, Ronald C.W., Froguel, Philippe, Wilson, James G., Bharadwaj, Dwaipayan, Dupuis, Josee, Meigs, James B., Cho, Yoon Shin, Park, Taesung, Kooner, Jaspal S., Chambers, John C., Saleheen, Danish, Kadowaki, Takashi, Tai, E. Shyong, Mohlke, Karen L., Cox, Nancy J., Ferrer, Jorge, Zeggini, Eleftheria, Kato, Norihiro, Teo, Yik Ying, Boehnke, Michael, McCarthy, Mark I., Morris, Andrew P.
Publicado 2016

Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes

por Imamura, Minako, Takahashi, Atsushi, Yamauchi, Toshimasa, Hara, Kazuo, Yasuda, Kazuki, Grarup, Niels, Zhao, Wei, Wang, Xu, Huerta-Chagoya, Alicia, Hu, Cheng, Moon, Sanghoon, Long, Jirong, Kwak, Soo Heon, Rasheed, Asif, Saxena, Richa, Ma, Ronald C. W., Okada, Yukinori, Iwata, Minoru, Hosoe, Jun, Shojima, Nobuhiro, Iwasaki, Minaka, Fujita, Hayato, Suzuki, Ken, Danesh, John, Jørgensen, Torben, Jørgensen, Marit E., Witte, Daniel R., Brandslund, Ivan, Christensen, Cramer, Hansen, Torben, Mercader, Josep M., Flannick, Jason, Moreno-Macías, Hortensia, Burtt, Noël P., Zhang, Rong, Kim, Young Jin, Zheng, Wei, Singh, Jai Rup, Tam, Claudia H. T., Hirose, Hiroshi, Maegawa, Hiroshi, Ito, Chikako, Kaku, Kohei, Watada, Hirotaka, Tanaka, Yasushi, Tobe, Kazuyuki, Kawamori, Ryuzo, Kubo, Michiaki, Cho, Yoon Shin, Chan, Juliana C. N., Sanghera, Dharambir, Frossard, Philippe, Park, Kyong Soo, Shu, Xiao-Ou, Kim, Bong-Jo, Florez, Jose C., Tusié-Luna, Teresa, Jia, Weiping, Tai, E Shyong, Pedersen, Oluf, Saleheen, Danish, Maeda, Shiro, Kadowaki, Takashi
Publicado 2016

Genetic variants at CD28, PRDM1, and CD2/CD58 are associated with rheumatoid arthritis risk

por Raychaudhuri, Soumya, Thomson, Brian P., Remmers, Elaine F., Eyre, Stephen, Hinks, Anne, Guiducci, Candace, Catanese, Joseph J., Xie, Gang, Stahl, Eli A., Chen, Robert, Alfredsson, Lars, Amos, Christopher I., Ardlie, Kristin G., Barton, Anne, Bowes, John, Burtt, Noel P., Chang, Monica, Coblyn, Jonathan, Costenbader, Karen H., Criswell, Lindsey A., Crusius, J. Bart A., Cui, Jing, De Jager, Phillip L., Ding, Bo, Emery, Paul, Flynn, Edward, Harrison, Pille, Hocking, Lynne J., Huizinga, Tom W. J., Kastner, Daniel L., Ke, Xiayi, Kurreeman, Fina A. S., Lee, Annette T., Liu, Xiangdong, Li, Yonghong, Martin, Paul, Morgan, Ann W., Padyukov, Leonid, Reid, David M., Seielstad, Mark, Seldin, Michael F., Shadick, Nancy A., Steer, Sophia, Tak, Paul P., Thomson, Wendy, van der Helm-van Mil, Annette H. M., van der Horst-Bruinsma, Irene E., Weinblatt, Michael E., Wilson, Anthony G., Wolbink, Gert Jan, Wordsworth, Paul, Altshuler, David, Karlson, Elizabeth W., Toes, Rene E. M., de Vries, Niek, Begovich, Ann B., Siminovitch, Katherine A., Worthington, Jane, Klareskog, Lars, Gregersen, Peter K., Daly, Mark J., Plenge, Robert M.
Publicado 2009

Stratifying Type 2 Diabetes Cases by BMI Identifies Genetic Risk Variants in LAMA1 and Enrichment for Risk Variants in Lean Compared to Obese Cases

por Perry, John R. B., Voight, Benjamin F., Yengo, Loïc, Amin, Najaf, Dupuis, Josée, Ganser, Martha, Grallert, Harald, Navarro, Pau, Li, Man, Qi, Lu, Steinthorsdottir, Valgerdur, Scott, Robert A., Almgren, Peter, Arking, Dan E., Aulchenko, Yurii, Balkau, Beverley, Benediktsson, Rafn, Bergman, Richard N., Boerwinkle, Eric, Bonnycastle, Lori, Burtt, Noël P., Campbell, Harry, Charpentier, Guillaume, Collins, Francis S., Gieger, Christian, Green, Todd, Hadjadj, Samy, Hattersley, Andrew T., Herder, Christian, Hofman, Albert, Johnson, Andrew D., Kottgen, Anna, Kraft, Peter, Labrune, Yann, Langenberg, Claudia, Manning, Alisa K., Mohlke, Karen L., Morris, Andrew P., Oostra, Ben, Pankow, James, Petersen, Ann-Kristin, Pramstaller, Peter P., Prokopenko, Inga, Rathmann, Wolfgang, Rayner, William, Roden, Michael, Rudan, Igor, Rybin, Denis, Scott, Laura J., Sigurdsson, Gunnar, Sladek, Rob, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tuomilehto, Jaakko, Uitterlinden, Andre G., Vivequin, Sidonie, Weedon, Michael N., Wright, Alan F., Hu, Frank B., Illig, Thomas, Kao, Linda, Meigs, James B., Wilson, James F., Stefansson, Kari, van Duijn, Cornelia, Altschuler, David, Morris, Andrew D., Boehnke, Michael, McCarthy, Mark I., Froguel, Philippe, Palmer, Colin N. A., Wareham, Nicholas J., Groop, Leif, Frayling, Timothy M., Cauchi, Stéphane
Publicado 2012

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

por Mahajan, Anubha, Sim, Xueling, Ng, Hui Jin, Manning, Alisa, Rivas, Manuel A., Highland, Heather M., Locke, Adam E., Grarup, Niels, Im, Hae Kyung, Cingolani, Pablo, Flannick, Jason, Fontanillas, Pierre, Fuchsberger, Christian, Gaulton, Kyle J., Teslovich, Tanya M., Rayner, N. William, Robertson, Neil R., Beer, Nicola L., Rundle, Jana K., Bork-Jensen, Jette, Ladenvall, Claes, Blancher, Christine, Buck, David, Buck, Gemma, Burtt, Noël P., Gabriel, Stacey, Gjesing, Anette P., Groves, Christopher J., Hollensted, Mette, Huyghe, Jeroen R., Jackson, Anne U., Jun, Goo, Justesen, Johanne Marie, Mangino, Massimo, Murphy, Jacquelyn, Neville, Matt, Onofrio, Robert, Small, Kerrin S., Stringham, Heather M., Syvänen, Ann-Christine, Trakalo, Joseph, Abecasis, Goncalo, Bell, Graeme I., Blangero, John, Cox, Nancy J., Duggirala, Ravindranath, Hanis, Craig L., Seielstad, Mark, Wilson, James G., Christensen, Cramer, Brandslund, Ivan, Rauramaa, Rainer, Surdulescu, Gabriela L., Doney, Alex S. F., Lannfelt, Lars, Linneberg, Allan, Isomaa, Bo, Tuomi, Tiinamaija, Jørgensen, Marit E., Jørgensen, Torben, Kuusisto, Johanna, Uusitupa, Matti, Salomaa, Veikko, Spector, Timothy D., Morris, Andrew D., Palmer, Colin N. A., Collins, Francis S., Mohlke, Karen L., Bergman, Richard N., Ingelsson, Erik, Lind, Lars, Tuomilehto, Jaakko, Hansen, Torben, Watanabe, Richard M., Prokopenko, Inga, Dupuis, Josee, Karpe, Fredrik, Groop, Leif, Laakso, Markku, Pedersen, Oluf, Florez, Jose C., Morris, Andrew P., Altshuler, David, Meigs, James B., Boehnke, Michael, McCarthy, Mark I., Lindgren, Cecilia M., Gloyn, Anna L.
Publicado 2015

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

por Aragam, Krishna G., Jiang, Tao, Goel, Anuj, Kanoni, Stavroula, Wolford, Brooke N., Atri, Deepak S., Weeks, Elle M., Wang, Minxian, Hindy, George, Zhou, Wei, Grace, Christopher, Roselli, Carolina, Marston, Nicholas A., Kamanu, Frederick K., Surakka, Ida, Venegas, Loreto Muñoz, Sherliker, Paul, Koyama, Satoshi, Ishigaki, Kazuyoshi, Åsvold, Bjørn O., Brown, Michael R., Brumpton, Ben, de Vries, Paul S., Giannakopoulou, Olga, Giardoglou, Panagiota, Gudbjartsson, Daniel F., Güldener, Ulrich, Haider, Syed M. Ijlal, Helgadottir, Anna, Ibrahim, Maysson, Kastrati, Adnan, Kessler, Thorsten, Kyriakou, Theodosios, Konopka, Tomasz, Li, Ling, Ma, Lijiang, Meitinger, Thomas, Mucha, Sören, Munz, Matthias, Murgia, Federico, Nielsen, Jonas B., Nöthen, Markus M., Pang, Shichao, Reinberger, Tobias, Schnitzler, Gavin, Smedley, Damian, Thorleifsson, Gudmar, von Scheidt, Moritz, Ulirsch, Jacob C., Arnar, David O., Burtt, Noël P., Costanzo, Maria C., Flannick, Jason, Ito, Kaoru, Jang, Dong-Keun, Kamatani, Yoichiro, Khera, Amit V., Komuro, Issei, Kullo, Iftikhar J., Lotta, Luca A., Nelson, Christopher P., Roberts, Robert, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Webb, Thomas R., Baras, Aris, Björkegren, Johan L. M., Boerwinkle, Eric, Dedoussis, George, Holm, Hilma, Hveem, Kristian, Melander, Olle, Morrison, Alanna C., Orho-Melander, Marju, Rallidis, Loukianos S., Ruusalepp, Arno, Sabatine, Marc S., Stefansson, Kari, Zalloua, Pierre, Ellinor, Patrick T., Farrall, Martin, Danesh, John, Ruff, Christian T., Finucane, Hilary K., Hopewell, Jemma C., Clarke, Robert, Gupta, Rajat M., Erdmann, Jeanette, Samani, Nilesh J., Schunkert, Heribert, Watkins, Hugh, Willer, Cristen J., Deloukas, Panos, Kathiresan, Sekar, Butterworth, Adam S.
Publicado 2022

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

por Fernández-Rhodes, Lindsay, Graff, Mariaelisa, Buchanan, Victoria L., Justice, Anne E., Highland, Heather M., Guo, Xiuqing, Zhu, Wanying, Chen, Hung-Hsin, Young, Kristin L., Adhikari, Kaustubh, Palmer, Nicholette D., Below, Jennifer E., Bradfield, Jonathan, Pereira, Alexandre C., Glover, LáShauntá, Kim, Daeeun, Lilly, Adam G., Shrestha, Poojan, Thomas, Alvin G., Zhang, Xinruo, Chen, Minhui, Chiang, Charleston W.K., Pulit, Sara, Horimoto, Andrea, Krieger, Jose E., Guindo-Martínez, Marta, Preuss, Michael, Schumann, Claudia, Smit, Roelof A.J., Torres-Mejía, Gabriela, Acuña-Alonzo, Victor, Bedoya, Gabriel, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, González-José, Rolando, Poletti, Giovanni, Rothhammer, Francisco, Hakonarson, Hakon, Igo, Robert, Adler, Sharon G., Iyengar, Sudha K., Nicholas, Susanne B., Gogarten, Stephanie M., Isasi, Carmen R., Papnicolaou, George, Stilp, Adrienne M., Qi, Qibin, Kho, Minjung, Smith, Jennifer A., Langefeld, Carl D., Wagenknecht, Lynne, Mckean-Cowdin, Roberta, Gao, Xiaoyi Raymond, Nousome, Darryl, Conti, David V., Feng, Ye, Allison, Matthew A., Arzumanyan, Zorayr, Buchanan, Thomas A., Ida Chen, Yii-Der, Genter, Pauline M., Goodarzi, Mark O., Hai, Yang, Hsueh, Willa, Ipp, Eli, Kandeel, Fouad R., Lam, Kelvin, Li, Xiaohui, Nadler, Jerry L., Raffel, Leslie J., Roll, Kathryn, Sandow, Kevin, Tan, Jingyi, Taylor, Kent D., Xiang, Anny H., Yao, Jie, Audirac-Chalifour, Astride, de Jesus Peralta Romero, Jose, Hartwig, Fernando, Horta, Bernando, Blangero, John, Curran, Joanne E., Duggirala, Ravindranath, Lehman, Donna E., Puppala, Sobha, Fejerman, Laura, John, Esther M., Aguilar-Salinas, Carlos, Burtt, Noël P., Florez, Jose C., García-Ortíz, Humberto, González-Villalpando, Clicerio, Mercader, Josep, Orozco, Lorena, Tusié-Luna, Teresa, Blanco, Estela, Gahagan, Sheila, Cox, Nancy J., Hanis, Craig, Butte, Nancy F., Cole, Shelley A., Comuzzie, Anthony G., Voruganti, V. Saroja, Rohde, Rebecca, Wang, Yujie, Sofer, Tamar, Ziv, Elad, Grant, Struan F.A., Ruiz-Linares, Andres, Rotter, Jerome I., Haiman, Christopher A., Parra, Esteban J., Cruz, Miguel, Loos, Ruth J.F., North, Kari E.
Publicado 2022

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

por Voight, Benjamin F, Peloso, Gina M, Orho-Melander, Marju, Frikke-Schmidt, Ruth, Barbalic, Maja, Jensen, Majken K, Hindy, George, Hólm, Hilma, Ding, Eric L, Johnson, Toby, Schunkert, Heribert, Samani, Nilesh J, Clarke, Robert, Hopewell, Jemma C, Thompson, John F, Li, Mingyao, Thorleifsson, Gudmar, Newton-Cheh, Christopher, Musunuru, Kiran, Pirruccello, James P, Saleheen, Danish, Chen, Li, Stewart, Alexandre FR, Schillert, Arne, Thorsteinsdottir, Unnur, Thorgeirsson, Gudmundur, Anand, Sonia, Engert, James C, Morgan, Thomas, Spertus, John, Stoll, Monika, Berger, Klaus, Martinelli, Nicola, Girelli, Domenico, McKeown, Pascal P, Patterson, Christopher C, Epstein, Stephen E, Devaney, Joseph, Burnett, Mary-Susan, Mooser, Vincent, Ripatti, Samuli, Surakka, Ida, Nieminen, Markku S, Sinisalo, Juha, Lokki, Marja-Liisa, Perola, Markus, Havulinna, Aki, de Faire, Ulf, Gigante, Bruna, Ingelsson, Erik, Zeller, Tanja, Wild, Philipp, de Bakker, Paul I W, Klungel, Olaf H, Maitland-van der Zee, Anke-Hilse, Peters, Bas J M, de Boer, Anthonius, Grobbee, Diederick E, Kamphuisen, Pieter W, Deneer, Vera H M, Elbers, Clara C, Onland-Moret, N Charlotte, Hofker, Marten H, Wijmenga, Cisca, Verschuren, WM Monique, Boer, Jolanda MA, van der Schouw, Yvonne T, Rasheed, Asif, Frossard, Philippe, Demissie, Serkalem, Willer, Cristen, Do, Ron, Ordovas, Jose M, Abecasis, Gonçalo R, Boehnke, Michael, Mohlke, Karen L, Daly, Mark J, Guiducci, Candace, Burtt, Noël P, Surti, Aarti, Gonzalez, Elena, Purcell, Shaun, Gabriel, Stacey, Marrugat, Jaume, Peden, John, Erdmann, Jeanette, Diemert, Patrick, Willenborg, Christina, König, Inke R, Fischer, Marcus, Hengstenberg, Christian, Ziegler, Andreas, Buysschaert, Ian, Lambrechts, Diether, Van de Werf, Frans, Fox, Keith A, El Mokhtari, Nour Eddine, Rubin, Diana, Schrezenmeir, Jürgen, Schreiber, Stefan, Schäfer, Arne, Danesh, John, Blankenberg, Stefan, Roberts, Robert, McPherson, Ruth, Watkins, Hugh, Hall, Alistair S, Overvad, Kim, Rimm, Eric, Boerwinkle, Eric, Tybjaerg-Hansen, Anne, Cupples, L Adrienne, Reilly, Muredach P, Melander, Olle, Mannucci, Pier M, Ardissino, Diego, Siscovick, David, Elosua, Roberto, Stefansson, Kari, O'Donnell, Christopher J, Salomaa, Veikko, Rader, Daniel J, Peltonen, Leena, Schwartz, Stephen M, Altshuler, David, Kathiresan, Sekar
Publicado 2012

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

por Goodrich, Julia K., Singer-Berk, Moriel, Son, Rachel, Sveden, Abigail, Wood, Jordan, England, Eleina, Cole, Joanne B., Weisburd, Ben, Watts, Nick, Caulkins, Lizz, Dornbos, Peter, Koesterer, Ryan, Zappala, Zachary, Zhang, Haichen, Maloney, Kristin A., Dahl, Andy, Aguilar-Salinas, Carlos A., Atzmon, Gil, Barajas-Olmos, Francisco, Barzilai, Nir, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L., Bottinger, Erwin, Bowden, Donald W., Centeno-Cruz, Federico, Chambers, John C., Chami, Nathalie, Chan, Edmund, Chan, Juliana, Cheng, Ching-Yu, Cho, Yoon Shin, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, DeFronzo, Ralph A., Duggirala, Ravindranath, Dupuis, Josée, Garay-Sevilla, Ma Eugenia, García-Ortiz, Humberto, Gieger, Christian, Glaser, Benjamin, González-Villalpando, Clicerio, Gonzalez, Ma Elena, Grarup, Niels, Groop, Leif, Gross, Myron, Haiman, Christopher, Han, Sohee, Hanis, Craig L., Hansen, Torben, Heard-Costa, Nancy L., Henderson, Brian E., Hernandez, Juan Manuel Malacara, Hwang, Mi Yeong, Islas-Andrade, Sergio, Jørgensen, Marit E., Kang, Hyun Min, Kim, Bong-Jo, Kim, Young Jin, Koistinen, Heikki A., Kooner, Jaspal Singh, Kuusisto, Johanna, Kwak, Soo-Heon, Laakso, Markku, Lange, Leslie, Lee, Jong-Young, Lee, Juyoung, Lehman, Donna M., Linneberg, Allan, Liu, Jianjun, Loos, Ruth J. F., Lyssenko, Valeriya, Ma, Ronald C. W., Martínez-Hernández, Angélica, Meigs, James B., Meitinger, Thomas, Mendoza-Caamal, Elvia, Mohlke, Karen L., Morris, Andrew D., Morrison, Alanna C., Ng, Maggie C. Y., Nilsson, Peter M., O’Donnell, Christopher J., Orozco, Lorena, Palmer, Colin N. A., Park, Kyong Soo, Post, Wendy S., Pedersen, Oluf, Preuss, Michael, Psaty, Bruce M., Reiner, Alexander P., Revilla-Monsalve, Cristina, Rich, Stephen S., Rotter, Jerome I., Saleheen, Danish, Schurmann, Claudia, Sim, Xueling, Sladek, Rob, Small, Kerrin S., So, Wing Yee, Spector, Timothy D., Strauch, Konstantin, Strom, Tim M., Tai, E. Shyong, Tam, Claudia H. T., Teo, Yik Ying, Thameem, Farook, Tomlinson, Brian, Tracy, Russell P., Tuomi, Tiinamaija, Tuomilehto, Jaakko, Tusié-Luna, Teresa, van Dam, Rob M., Vasan, Ramachandran S., Wilson, James G., Witte, Daniel R., Wong, Tien-Yin, Burtt, Noël P., Zaitlen, Noah, McCarthy, Mark I., Boehnke, Michael, Pollin, Toni I., Flannick, Jason, Mercader, Josep M., O’Donnell-Luria, Anne, Baxter, Samantha, Florez, Jose C., MacArthur, Daniel G., Udler, Miriam S.
Publicado 2021

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

por Flannick, Jason, Mercader, Josep M., Fuchsberger, Christian, Udler, Miriam S., Mahajan, Anubha, Wessel, Jennifer, Teslovich, Tanya M., Caulkins, Lizz, Koesterer, Ryan, Barajas-Olmos, Francisco, Blackwell, Thomas W., Boerwinkle, Eric, Brody, Jennifer A., Centeno-Cruz, Federico, Chen, Ling, Chen, Siying, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, Cortes, Maria, DeFronzo, Ralph A., Dolan, Lawrence, Drews, Kimberly L., Elliott, Amanda, Floyd, James S., Gabriel, Stacey, Garay-Sevilla, Maria Eugenia, García-Ortiz, Humberto, Gross, Myron, Han, Sohee, Heard-Costa, Nancy L., Jackson, Anne U., Jørgensen, Marit E., Kang, Hyun Min, Kelsey, Megan, Kim, Bong-Jo, Koistinen, Heikki A., Kuusisto, Johanna, Leader, Joseph B., Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Lyssenko, Valeriya, Manning, Alisa K., Marcketta, Anthony, Malacara-Hernandez, Juan Manuel, Martínez-Hernández, Angélica, Matsuo, Karen, Mayer-Davis, Elizabeth, Mendoza-Caamal, Elvia, Mohlke, Karen L., Morrison, Alanna C., Ndungu, Anne, Ng, Maggie C. Y., O’Dushlaine, Colm, Payne, Anthony J., Pihoker, Catherine, Post, Wendy S., Preuss, Michael, Psaty, Bruce M., Vasan, Ramachandran S., Rayner, N. William, Reiner, Alexander P., Revilla-Monsalve, Cristina, Robertson, Neil R., Santoro, Nicola, Schurmann, Claudia, So, Wing Yee, Soberón, Xavier, Stringham, Heather M., Strom, Tim M., Tam, Claudia H. T., Thameem, Farook, Tomlinson, Brian, Torres, Jason M., Tracy, Russell P., van Dam, Rob M., Vujkovic, Marijana, Wang, Shuai, Welch, Ryan P., Witte, Daniel R., Wong, Tien-Yin, Atzmon, Gil, Barzilai, Nir, Blangero, John, Bonnycastle, Lori L., Bowden, Donald W., Chambers, John C., Chan, Edmund, Cheng, Ching-Yu, Cho, Yoon Shin, Collins, Francis S., de Vries, Paul S., Duggirala, Ravindranath, Glaser, Benjamin, Gonzalez, Clicerio, Gonzalez, Ma Elena, Groop, Leif, Kooner, Jaspal Singh, Kwak, Soo Heon, Laakso, Markku, Lehman, Donna M., Nilsson, Peter, Spector, Timothy D., Tai, E. Shyong, Tuomi, Tiinamaija, Tuomilehto, Jaakko, Wilson, James G., Aguilar-Salinas, Carlos A., Bottinger, Erwin, Burke, Brian, Carey, David J., Chan, Juliana C. N., Dupuis, Josée, Frossard, Philippe, Heckbert, Susan R., Hwang, Mi Yeong, Kim, Young Jin, Kirchner, H. Lester, Lee, Jong-Young, Lee, Juyoung, Loos, Ruth J. F., Ma, Ronald C. W., Morris, Andrew D., O’Donnell, Christopher J., Palmer, Colin N. A., Pankow, James, Park, Kyong Soo, Rasheed, Asif, Saleheen, Danish, Sim, Xueling, Small, Kerrin S., Teo, Yik Ying, Haiman, Christopher, Hanis, Craig L., Henderson, Brian E., Orozco, Lorena, Tusié-Luna, Teresa, Dewey, Frederick E., Baras, Aris, Gieger, Christian, Meitinger, Thomas, Strauch, Konstantin, Lange, Leslie, Grarup, Niels, Hansen, Torben, Pedersen, Oluf, Zeitler, Philip, Dabelea, Dana, Abecasis, Goncalo, Bell, Graeme I., Cox, Nancy J., Seielstad, Mark, Sladek, Rob, Meigs, James B., Rich, Steve S., Rotter, Jerome I., Altshuler, David, Burtt, Noël P., Scott, Laura J., Morris, Andrew P., Florez, Jose C., McCarthy, Mark I., Boehnke, Michael
Publicado 2019