Author: "Mitnaul, Lyndon J" - Searchworks@Jio Institute Digital Library Search Results

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49 results on '"Mitnaul, Lyndon J"'

1. Plasma proteomic associations with genetics and health in the UK Biobank

Author: Sun, Benjamin B., Chiou, Joshua, Traylor, Matthew, Benner, Christian, Hsu, Yi-Hsiang, Richardson, Tom G., Surendran, Praveen, Mahajan, Anubha, Robins, Chloe, Vasquez-Grinnell, Steven G., Hou, Liping, Kvikstad, Erika M., Burren, Oliver S., Davitte, Jonathan, Ferber, Kyle L., Gillies, Christopher E., Hedman, Åsa K., Hu, Sile, Lin, Tinchi, Mikkilineni, Rajesh, Pendergrass, Rion K., Pickering, Corran, Prins, Bram, Baird, Denis, Chen, Chia-Yen, Ward, Lucas D., Deaton, Aimee M., Welsh, Samantha, Willis, Carissa M., Lehner, Nick, Arnold, Matthias, Wörheide, Maria A., Suhre, Karsten, Kastenmüller, Gabi, Sethi, Anurag, Cule, Madeleine, Raj, Anil, Burkitt-Gray, Lucy, Melamud, Eugene, Black, Mary Helen, Fauman, Eric B., Howson, Joanna M. M., Kang, Hyun Min, McCarthy, Mark I., Nioi, Paul, Petrovski, Slavé, Scott, Robert A., Smith, Erin N., Szalma, Sándor, Waterworth, Dawn M., Mitnaul, Lyndon J., Szustakowski, Joseph D., Gibson, Bradford W., Miller, Melissa R., and Whelan, Christopher D.
Published: 2023
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2. Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

Author: Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Blumenfeld, Andrew, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B., Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lotta, Luca A., Mansfield, Adam J., Maxwell, Evan K., Mighty, Jason, Mitnaul, Lyndon J., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Overton, John D., Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Pradhan, Manasi, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Wang, Louise, Desai, Heena, Verma, Shefali S., Le, Anh, Hausler, Ryan, Verma, Anurag, Judy, Renae, Doucette, Abigail, Gabriel, Peter E., Nathanson, Katherine L., Damrauer, Scott M., Mowery, Danielle L., Ritchie, Marylyn D., Kember, Rachel L., and Maxwell, Kara N.
Published: 2022
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3. Genetic Susceptibility to Mood Disorders and Risk of Stroke: A Polygenic Risk Score and Mendelian Randomization Study

Author: Sun, Jiangming, Borné, Yan, Edsfeldt, Andreas, Wang, Yunpeng, Pan, Mengyu, Melander, Olle, Engström, Gunnar, Gonçalves, Isabel, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Overton, John D., Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hahn, Young, Hawes, Alicia, Khalid, Shareef, Reid, Jeffrey G., Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Yadav, Ashish, Jones, Marcus B., and Mitnaul, Lyndon J.
Published: 2023
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4. “PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black Patients”

Author: 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
Published: 2024
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5. Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Author: Loughlin, John, Arden, Nigel, Birrell, Fraser, Carr, Andrew, Deloukas, Panos, Doherty, Michael, McCaskie, Andrew W., Ollier, William E.R., Rai, Ashok, Ralston, Stuart H., Spector, Tim D., Wallis, Gillian A., Martinsen, Amy E., Willer, Cristen, Fors, Egil Andreas, Mundal, Ingunn, Hagen, Knut, Nilsen, Kristian Bernhard, Lie, Marie Udnesseter, Børte, Sigrid, Brumpton, Ben, Nielsen, Jonas Bille, Fritsche, Lars G., Zhou, Wei, Heuch, Ingrid, Storheim, Kjersti, Tyrpenou, Evangelos, Koukakis, Athanasios, Chytas, Dimitrios, Evangelopoulos, Dimitrios Stergios, Efstathios, Chronopoulos, Pneumaticos, Spiros, Nikolaou, Vasileios S., Malizos, Konstantinos, Anastasopoulou, Lydia, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Karalis, Katia, Siminovitch, Katherine, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Bai, Xiaodong, Balasubramanian, Suganthi, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mona, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Li, Dadong, Sharma, Deepika, Banerjee, Ilanjana, Bovijn, Jonas, Locke, Adam, Verweij, Niek, Haas, Mary, Hindy, George, De, Tanima, Akbari, Parsa, Sosina, Olukayode, Ferreira, Manuel A.R., Jones, Marcus B., Mighty, Jason, LeBlanc, Michelle G., Mitnaul, Lyndon J., Boer, Cindy G., Hatzikotoulas, Konstantinos, Southam, Lorraine, Stefánsdóttir, Lilja, Zhang, Yanfei, Coutinho de Almeida, Rodrigo, Wu, Tian T., Zheng, Jie, Hartley, April, Teder-Laving, Maris, Skogholt, Anne Heidi, Terao, Chikashi, Zengini, Eleni, Alexiadis, George, Barysenka, Andrei, Bjornsdottir, Gyda, Gabrielsen, Maiken E., Gilly, Arthur, Ingvarsson, Thorvaldur, Johnsen, Marianne B., Jonsson, Helgi, Kloppenburg, Margreet, Luetge, Almut, Lund, Sigrun H., Mägi, Reedik, Mangino, Massimo, Nelissen, Rob R.G.H.H., Shivakumar, Manu, Steinberg, Julia, Takuwa, Hiroshi, Thomas, Laurent F., Tuerlings, Margo, Babis, George C., Cheung, Jason Pui Yin, Kang, Jae Hee, Kraft, Peter, Lietman, Steven A., Samartzis, Dino, Slagboom, P. Eline, Stefansson, Kari, Thorsteinsdottir, Unnur, Tobias, Jonathan H., Uitterlinden, André G., Winsvold, Bendik, Zwart, John-Anker, Davey Smith, George, Sham, Pak Chung, Thorleifsson, Gudmar, Gaunt, Tom R., Morris, Andrew P., Valdes, Ana M., Tsezou, Aspasia, Cheah, Kathryn S.E., Ikegawa, Shiro, Hveem, Kristian, Esko, Tõnu, Wilkinson, J. Mark, Meulenbelt, Ingrid, Lee, Ming Ta Michael, van Meurs, Joyce B.J., Styrkársdóttir, Unnur, and Zeggini, Eleftheria
Published: 2021
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6. An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

Author: Siminovitch, Katherine A., Hirschfield, Gideon M., Mason, Andrew, Vincent, Catherine, Xie, Gang, Zhang, Jinyi, Tang, Ruqi, Ma, Xiong, Li, Zhiqiang, Shi, Yongyong, Affronti, Andrea, Almasio, Piero L., Alvaro, Domenico, Andreone, Pietro, Andriulli, Angelo, Azzaroli, Francesco, Battezzati, Pier Maria, Benedetti, Antonio, Bragazzi, MariaConsiglia, Brunetto, Maurizia, Bruno, Savino, Calvaruso, Vincenza, Cardinale, Vincenzo, Casella, Giovanni, Cazzagon, Nora, Ciaccio, Antonio, Coco, Barbara, Colli, Agostino, Colloredo, Guido, Colombo, Massimo, Colombo, Silvia, Cristoferi, Laura, Cursaro, Carmela, Crocè, Lory Saveria, Crosignani, Andrea, D’Amato, Daphne, Donato, Francesca, Elia, Gianfranco, Fabris, Luca, Fagiuoli, Stefano, Ferrari, Carlo, Floreani, Annarosa, Galli, Andrea, Giannini, Edoardo, Grattagliano, Ignazio, Lampertico, Pietro, Lleo, Ana, Malinverno, Federica, Mancuso, Clara, Marra, Fabio, Marzioni, Marco, Massironi, Sara, Mattalia, Alberto, Miele, Luca, Milani, Chiara, Morini, Lorenzo, Morisco, Filomena, Muratori, Luigi, Muratori, Paolo, Niro, Grazia A., O’Donnell, Sarah, Picciotto, Antonio, Portincasa, Piero, Rigamonti, Cristina, Ronca, Vincenzo, Rosina, Floriano, Spinzi, Giancarlo, Strazzabosco, Mario, Tarocchi, Mirko, Tiribelli, Claudio, Toniutto, Pierluigi, Valenti, Luca, Vinci, Maria, Zuin, Massimo, Nakamura, Hitomi, Abiru, Seigo, Nagaoka, Shinya, Komori, Atsumasa, Yatsuhashi, Hiroshi, Ishibashi, Hiromi, Ito, Masahiro, Migita, Kiyoshi, Ohira, Hiromasa, Katsushima, Shinji, Naganuma, Atsushi, Sugi, Kazuhiro, Komatsu, Tatsuji, Mannami, Tomohiko, Matsushita, Kouki, Yoshizawa, Kaname, Makita, Fujio, Nikami, Toshiki, Nishimura, Hideo, Kouno, Hiroshi, Kouno, Hirotaka, Ota, Hajime, Komura, Takuya, Nakamura, Yoko, Shimada, Masaaki, Hirashima, Noboru, Komeda, Toshiki, Ario, Keisuke, Nakamuta, Makoto, Yamashita, Tsutomu, Furuta, Kiyoshi, Kikuchi, Masahiro, Naeshiro, Noriaki, Takahashi, Hironao, Mano, Yutaka, Tsunematsu, Seiji, Yabuuchi, Iwao, Shimada, Yusuke, Yamauchi, Kazuhiko, Sugimoto, Rie, Sakai, Hironori, Mita, Eiji, Koda, Masaharu, Tsuruta, Satoru, Kamitsukasa, Hiroshi, Sato, Takeaki, Masaki, Naohiko, Kobata, Tatsuro, Fukushima, Nobuyoshi, Ohara, Yukio, Muro, Toyokichi, Takesaki, Eiichi, Takaki, Hitoshi, Yamamoto, Tetsuo, Kato, Michio, Nagaoki, Yuko, Hayashi, Shigeki, Ishida, Jinya, Watanabe, Yukio, Kobayashi, Masakazu, Koga, Michiaki, Saoshiro, Takeo, Yagura, Michiyasu, Hirata, Keisuke, Tanaka, Atsushu, Takikawa, Hajime, Zeniya, Mikio, Abe, Masanori, Onji, Morikazu, Kaneko, Shuichi, Honda, Masao, Arai, Kuniaki, Arinaga-Hino, Teruko, Hashimoto, Etsuko, Taniai, Makiko, Umemura, Takeji, Joshita, Satoru, Nakao, Kazuhiko, Ichikawa, Tatsuki, Shibata, Hidetaka, Yamagiwa, Satoshi, Seike, Masataka, Honda, Koichi, Sakisaka, Shotaro, Takeyama, Yasuaki, Harada, Masaru, Senju, Michio, Yokosuka, Osamu, Kanda, Tatsuo, Ueno, Yoshiyuki, Kikuchi, Kentaro, Ebinuma, Hirotoshi, Himoto, Takashi, Yasunami, Michio, Murata, Kazumoto, Mizokami, Masashi, Kawata, Kazuhito, Shimoda, Shinji, Miyake, Yasuhiro, Takaki, Akinobu, Yamamoto, Kazuhide, Hirano, Katsuji, Ichida, Takafumi, Ido, Akio, Tsubouchi, Hirohito, Chayama, Kazuaki, Harada, Kenichi, Nakanuma, Yasuni, Maehara, Yoshihiko, Taketomi, Akinobu, Shirabe, Ken, Soejima, Yuji, Mori, Akira, Yagi, Shintaro, Uemoto, Shinji, H, Egawa, Tanaka, Tomohiro, Yamashiki, Noriyo, Tamura, Sumito, Sugawara, Yasuhiro, Kokudo, Norihiro, Juran, Brian D., Atkinson, Elizabeth J., Cheung, Angela, de Andrade, Mariza, Lazaridis, Konstantinos N., Chalasani, Naga, Luketic, Vel, Odin, Joseph, Chopra, Kapil, Baras, Aris, Horowitz, Julie, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mitnaul, Lyndon J., Sturgess, Richard, Healey, Christopher, Yeoman, Andrew, Gunasekera, Anton VJ., Kooner, Paul, Kapur, Kapil, Sathyanarayana, V., Kallis, Yiannis, Subhani, Javaid, Harvey, Rory, McCorry, Roger, Rooney, Paul, Ramanaden, David, Evans, Richard, Mathialahan, Thiriloganathan, Gasem, Jaber, Shorrock, Christopher, Bhalme, Mahesh, Southern, Paul, Tibble, Jeremy A., Gorard, David A., Jones, Susan, Mells, George, Mulcahy, Victoria, Srivastava, Brijesh, Foxton, Matthew R., Collins, Carole E., Elphick, David, Karmo, Mazn, Porras-Perez, Francisco, Mendall, Michael, Yapp, Tom, Patel, Minesh, Ede, Roland, Sayer, Joanne, Jupp, James, Fisher, Neil, Carter, Martyn J., Koss, Konrad, Shah, Jayshri, Piotrowicz, Andrzej, Scott, Glyn, Grimley, Charles, Gooding, Ian R., Williams, Simon, Tidbury, Judith, Lim, Guan, Cheent, Kuldeep, Levi, Sass, Mansour, Dina, Beckley, Matilda, Hollywood, Coral, Wong, Terry, Marley, Richard, Ramage, John, Gordon, Harriet M., Ridpath, Jo, Ngatchu, Theodore, Bob Grover, Vijay Paul, Shidrawi, Ray G., Abouda, George, Corless, L., Narain, Mark, Rees, Ian, Brown, Ashley, Taylor-Robinson, Simon, Wilkins, Joy, Grellier, Leonie, Banim, Paul, Das, Debasish, Heneghan, Michael A., Curtis, Howard, Matthews, Helen C., Mohammed, Faiyaz, Aldersley, Mark, Srirajaskanthan, Raj, Walker, Giles, McNair, Alistair, Sharif, Amar, Sen, Sambit, Bird, George, Prince, Martin I., Prasad, Geeta, Kitchen, Paul, Barnardo, Adrian, Oza, Chirag, Sivaramakrishnan, Nurani N., Gupta, Prakash, Shah, Amir, Evans, Chris DJ., Saha, Subrata, Pollock, Katharine, Bramley, Peter, Mukhopadhya, Ashis, Barclay, Stephen T., McDonald, Natasha, Bathgate, Andrew J., Palmer, Kelvin, Dillon, John F., Rushbrook, Simon M., Przemioslo, Robert, McDonald, Chris, Millar, Andrew, Tai, Cheh, Mitchell, Stephen, Metcalf, Jane, Shaukat, Syed, Ninkovic, Mary, Shmueli, Udi, Davis, Andrew, Naqvi, Asifabbas, Lee, Tom JW., Ryder, Stephen, Collier, Jane, Klass, Howard, Cramp, Matthew E., Sharer, Nichols, Aspinall, Richard, Ghosh, Deb, Douds, Andrew C., Booth, Jonathan, Williams, Earl, Hussaini, Hyder, Christie, John, Mann, Steven, Thorburn, Douglas, Marshall, Aileen, Patanwala, Imran, Ala, Aftab, Maltby, Julia, Matthew, Ray, Corbett, Chris, Vyas, Sam, Singhal, Saket, Gleeson, Dermot, Misra, Sharat, Butterworth, Jeff, George, Keith, Harding, Tim, Douglass, Andrew, Mitchison, Harriet, Panter, Simon, Shearman, Jeremy, Bray, Gary, Roberts, Michael, Butcher, Graham, Forton, Daniel, Mahmood, Zahid, Cowan, Matthew, Das, Debashis, Ch’ng, Chin Lye, Rahman, Mesbah, Whatley, Gregory C.A., Wesley, Emma, Mandal, Aditya, Jain, Sanjiv, Pereira, Stephen P., Wright, Mark, Trivedi, Palak, Gordon, Fiona H., Unitt, Esther, Palejwala, Altaf, Austin, Andrew, Vemala, Vishwaraj, Grant, Allister, Higham, Andrew D., Brind, Alison, Mathew, Ray, Cox, Mark, Ramakrishnan, Subramaniam, King, Alistair, Whalley, Simon, Fraser, Jocelyn, Thomson, S.J., Bell, Andrew, Wong, Voi Shim, Kia, Richard, Gee, Ian, Keld, Richard, Ransford, Rupert, Gotto, James, Millson, Charles, Cordell, Heather J., Fryett, James J., Ueno, Kazuko, Darlay, Rebecca, Aiba, Yoshihiro, Hitomi, Yuki, Kawashima, Minae, Nishida, Nao, Khor, Seik-Soon, Gervais, Olivier, Kawai, Yosuke, Nagasaki, Masao, Tokunaga, Katsushi, Gerussi, Alessio, Carbone, Marco, Asselta, Rosanna, Ferreira, Manuel A.R., Sun, Dylan, Jones, David E., Flack, Steven, Spicer, Ann, Mulcahy, Victoria L., Byan, Jinyoung, Han, Younghun, Sandford, Richard N., Amos, Christopher I., Seldin, Michael F., Invernizzi, Pietro, Nakamura, Minoru, and Mells, George F.
Published: 2021
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7. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

Author: Alizadeh, Behrooz Z., Boezen, H. Marike, Franke, Lude, van der Harst, Pim, Navis, Gerjan, Rots, Marianne, Snieder, Harold, Swertz, Morris, Wolffenbuttel, Bruce H.R., Wijmenga, Cisca, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mitnaul, Lyndon J., Gorski, Mathias, Jung, Bettina, Li, Yong, Matias-Garcia, Pamela R., Wuttke, Matthias, Coassin, Stefan, Thio, Chris H.L., Kleber, Marcus E., Winkler, Thomas W., Wanner, Veronika, Chai, Jin-Fang, Chu, Audrey Y., Cocca, Massimiliano, Feitosa, Mary F., Ghasemi, Sahar, Hoppmann, Anselm, Horn, Katrin, Li, Man, Nutile, Teresa, Scholz, Markus, Sieber, Karsten B., Teumer, Alexander, Tin, Adrienne, Wang, Judy, Tayo, Bamidele O., Ahluwalia, Tarunveer S., Almgren, Peter, Bakker, Stephan J.L., Banas, Bernhard, Bansal, Nisha, Biggs, Mary L., Boerwinkle, Eric, Bottinger, Erwin P., Brenner, Hermann, Carroll, Robert J., Chalmers, John, Chee, Miao-Li, Chee, Miao-Ling, Cheng, Ching-Yu, Coresh, Josef, de Borst, Martin H., Degenhardt, Frauke, Eckardt, Kai-Uwe, Endlich, Karlhans, Franke, Andre, Freitag-Wolf, Sandra, Gampawar, Piyush, Gansevoort, Ron T., Ghanbari, Mohsen, Gieger, Christian, Hamet, Pavel, Ho, Kevin, Hofer, Edith, Holleczek, Bernd, Xian Foo, Valencia Hui, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Ikram, M. Arfan, Josyula, Navya Shilpa, Kähönen, Mika, Khor, Chiea-Chuen, Koenig, Wolfgang, Kramer, Holly, Krämer, Bernhard K., Kühnel, Brigitte, Lange, Leslie A., Lehtimäki, Terho, Lieb, Wolfgang, Loos, Ruth J.F., Lukas, Mary Ann, Lyytikäinen, Leo-Pekka, Meisinger, Christa, Meitinger, Thomas, Melander, Olle, Milaneschi, Yuri, Mishra, Pashupati P., Mononen, Nina, Mychaleckyj, Josyf C., Nadkarni, Girish N., Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M., O’Donoghue, Michelle L., Orho-Melander, Marju, Pendergrass, Sarah A., Penninx, Brenda W.J.H., Preuss, Michael H., Psaty, Bruce M., Raffield, Laura M., Raitakari, Olli T., Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M., Rosenkranz, Alexander R., Rossing, Peter, Rotter, Jerome I., Sabanayagam, Charumathi, Schmidt, Helena, Schmidt, Reinhold, Schöttker, Ben, Schulz, Christina-Alexandra, Sedaghat, Sanaz, Shaffer, Christian M., Strauch, Konstantin, Szymczak, Silke, Taylor, Kent D., Tremblay, Johanne, Chaker, Layal, van der Most, Peter J., Verweij, Niek, Völker, Uwe, Waldenberger, Melanie, Wallentin, Lars, Waterworth, Dawn M., White, Harvey D., Wilson, James G., Wong, Tien-Yin, Woodward, Mark, Yang, Qiong, Yasuda, Masayuki, Yerges-Armstrong, Laura M., Zhang, Yan, Wanner, Christoph, Böger, Carsten A., Köttgen, Anna, Kronenberg, Florian, Pattaro, Cristian, and Heid, Iris M.
Published: 2021
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8. Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals

Author: Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hahn, Young, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Yadav, Ashish, Jones, Marcus B., Mitnaul, Lyndon J., Kember, Rachel L., Merikangas, Alison K., Verma, Shefali S., Verma, Anurag, Judy, Renae, Damrauer, Scott M., Ritchie, Marylyn D., Rader, Daniel J., and Bućan, Maja
Published: 2021
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9. Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers

Author: Wineland, Dylane, Le, Anh N., Hausler, Ryan, Kelly, Gregory, Barrett, Emanuel, Desai, Heena, Wubbenhorst, Bradley, Pluta, John, Bastian, Paul, Symecko, Heather, DʼAndrea, Kurt, Doucette, Abigail, Gabriel, Peter, Reiss, Kim A., Nayak, Anupma, Feldman, Michael, Domchek, Susan M., Nathanson, Katherine L., Maxwell, Kara N., Mansfield, Adam J., Locke, Adam, Poindexter, Afiya, Shuldiner, Alan, Li, Alexander, Lopez, Alexander, Hawes, Alicia, Averitt, Amelia, Damask, Amy, Deubler, Andrew, Ziyatdinov, Andrey, Marcketta, Anthony, Verma, Anurag, Moscati, Arden, Ayer, Ariane, Baras, Aris, Economides, Aris, Ghosh, Arkopravo, Brock, Ashlei, Kloter, Ashley, Rasool, Ayesha, Guvenek, Aysegul, Ye, Bin, Zhang, Blair, Boutkov, Boris, Forsythe, Caitlin, Sidore, Carlo, Paulding, Charles, Beechert, Christina, Gillies, Christopher, Morse, Colleen, Li, Dadong, Rader, Daniel J., Liu, Daren, Sharma, Deepika, Stahl, Eli, Jorgenson, Eric, Fuller, Erin D., Chen, Esteban, Maxwell, Evan K., Vadivieso, Fred, Tzoneva, Gannie, Hindy, George, Mitra, George, Coppola, Giovanni, Eom, Gisu, Abecasis, Goncalo, Kang, Hyun Min, Kosmicki, Jack, Hernandez, Jaimee, Freudenberg, Jan, Mighty, Jason, Staples, Jeffrey C., Reid, Jeffrey G., Mbatchou, Joelle, Weaver, JoEllen, Overton, John D., Bovijn, Jonas, Marchini, Jonathan, Dunn, Joseph, Backman, Joshua, Rodriguez-Flores, Juan, Siminovitch, Katherine, Sun, Kathie, Praveen, Kavita, Hu-Sain, Khadijah, Manoochehri, Kia, Watanabe, Kyoko, Gurski, Lauren, Dobbyn, Lee, Morrel, Linda, Widom, Louis, Lotta, Luca A., Habegger, Lukas, Mitnaul, Lyndon J., Pradhan, Manasi, Kapoor, Manav, Ferreira, Manuel Allen Revez, Jones, Marcus B., Padilla, Maria Sotiropoulos, Risman, Marjorie, Haas, Mary, Ritchie, Marylyn D., Orelus, Max, Livingstone, Meghan, Cantor, Michael, Feldman, Michael D., Kessler, Michael, Lattari, Michael, LeBlanc, Michelle G., Riaz, Moeen, Nafde, Mona, Rana, Nadia, Lin, Nan, Haubein, Ned, Verweij, Niek, Banerjee, Nilanjana, Nishtala, Nirupama, Krasheninina, Olga, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Panea, Razvan, Judy, Renae, Ulloa, Ricardo H., Lanche, Rouel, Gelfman, Sahar, Malhotra, Sameer, Wolf, Sarah E., Dudek, Scott, OʼKeeffe, Sean, Khalid, Shareef, Verma, Shefali S., Chen, Siying, DerOhannessian, Stephanie, Balasubramanian, Suganthi, Gokhale, Sujit, Bao, Suying, De, Tanima, Tran, Teo, Drivas, Theodore, Schleicher, Thomas D., Polanco, Tommy, Rajagopal, Veera, Salerno, William, Bai, Xiaodong, Ko, Yi-An, Bradford, Yuki, and Gu, Zhenhua
Published: 2023
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10. Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Author: Szustakowski, Joseph D., Balasubramanian, Suganthi, Kvikstad, Erika, Khalid, Shareef, Bronson, Paola G., Sasson, Ariella, Wong, Emily, Liu, Daren, Wade Davis, J., Haefliger, Carolina, Katrina Loomis, A., Mikkilineni, Rajesh, Noh, Hyun Ji, Wadhawan, Samir, Bai, Xiaodong, Hawes, Alicia, Krasheninina, Olga, Ulloa, Ricardo, Lopez, Alex E., Smith, Erin N., Waring, Jeffrey F., Whelan, Christopher D., Tsai, Ellen A., Overton, John D., Salerno, William J., Jacob, Howard, Szalma, Sandor, Runz, Heiko, Hinkle, Gregory, Nioi, Paul, Petrovski, Slavé, Miller, Melissa R., Baras, Aris, Mitnaul, Lyndon J., and Reid, Jeffrey G.
Published: 2021
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11. Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk

Author: Verma, Anurag, Verma, Shefali S., Bradford, Yuki, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Dunn, Joseph, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Kloter, Ashley, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Poindexter, Afiya, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Ulloa, Ricardo H., Averitt, Amelia, Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, MHI, Staples, Jeffrey, Bai, Xiaodong, Balasubramanian, Suganthi, Bao, Suying, Boutkov, Boris, Chen, Siying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Mitra, George, Nafde, Mona, O’Keeffe, Sean, Orelus, Max, B, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Sun, Kathie, Abecasis, Goncalo, Backman, Joshua, Damask, Amy, Dobbyn, Lee, Revez Ferreira, Manuel Allen, Ghosh, Arkopravo, Gillies, Christopher, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Liu, Daren, Locke, Adam, Marchini, Jonathan, Marcketta, Anthony, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Watanabe, Kyoko, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Ayer, Ariane, Guvenek, Aysegul, Hindy, George, Coppola, Giovanni, Freudenberg, Jan, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Haas, Mary, Riaz, Moeen, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gelfman, Sahar, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Tzoneva, Gannie, Rodriguez-Flores, Juan, Chen, Esteban, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Baras, Aris, Deubler, Andrew, Economides, Aris, Shuldiner, Alan, Powers, Jacquelyn, Wachtel, Heather, Trujillo, Erica, Desai, Heena, Hausler, Ryan, Conway, Laura, Wubbenhorst, Bradley, Domchek, Susan M., Nathanson, Katherine L., and Maxwell, Kara N.
Published: 2025
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12. PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients

Author: Verma, Anurag, Verma, Shefali S., Bradford, Yuki, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Dunn, Joseph, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Kloter, Ashley, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Poindexter, Afiya, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Ulloa, Ricardo H., Averitt, Amelia, Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, Staples, Jeffrey, Bai, Xiaodong, Balasubramanian, Suganthi, Bao, Suying, Boutkov, Boris, Chen, Siying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Mitra, George, Nafde, Mona, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Sun, Kathie, Abecasis, Goncalo, Backman, Joshua, Damask, Amy, Dobbyn, Lee, Ferreira, Manuel Allen Revez, Ghosh, Arkopravo, Gillies, Christopher, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Liu, Daren, Locke, Adam, Marchini, Jonathan, Marcketta, Anthony, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Watanabe, Kyoko, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Ayer, Ariane, Guvenek, Aysegul, Hindy, George, Coppola, Giovanni, Freudenberg, Jan, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Haas, Mary, Riaz, Moeen, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gelfman, Sahar, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Shuldiner, Alan, Tzoneva, Gannie, Rodriguez-Flores, Juan, Chen, Esteban, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Baras, Aris, Deubler, Andrew, Economides, Aris, Cappadocia, Jacqueline, Aiello, Lisa B., Kelley, Michael J., Katona, Bryson W., and Maxwell, Kara N.
Published: 2024
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13. Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

Author: Xiao, Brenda, primary, Velez Edwards, Digna R., additional, Lucas, Anastasia, additional, Drivas, Theodore, additional, Gray, Kathryn, additional, Keating, Brendan, additional, Weng, Chunhua, additional, Jarvik, Gail P., additional, Hakonarson, Hakon, additional, Kottyan, Leah, additional, Elhadad, Noemie, additional, Wei, Wei‐Qi, additional, Luo, Yuan, additional, Kim, Dokyoon, additional, Ritchie, Marylyn, additional, Verma, Shefali Setia, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Deubler, Andrew, additional, Economides, Aris, additional, Karalis, Katia, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Siminovitch, Katherine, additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, 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, 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, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Sun, Kathie, additional, Backman, Joshua, additional, Damask, Amy, additional, Dobbyn, Lee, additional, Ferreira, Manuel Allen Revez, 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, Freudenberg, Jan, additional, Bovijn, Jonas, additional, Praveen, Kavita, 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, Tzoneva, Gannie, additional, Rodriguez‐Flores, Juan, additional, Chim, Shek Man, additional, Donato, Valerio, additional, Fernandez, Daniel, additional, Gatta, Giusy Della, additional, Di Gioia, Alessandro, additional, Howell, Kristen, additional, Khrimian, Lori, additional, Kim, Minhee, additional, Martinez, Hector, additional, Miloscio, Lawrence, additional, Nunez, Sheilyn, additional, Pavlopoulos, Elias, additional, Persaud, Trikaldarshi, additional, Chen, Esteban, additional, Jones, Marcus B., additional, LeBlanc, Michelle G., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nishtala, Nirupama, additional, and Rana, Nadia, additional
Published: 2023
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14. Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Author: Jurgens, Sean J., Choi, Seung Hoan, Morrill, Valerie N., Chaffin, Mark, Pirruccello, James P., Halford, Jennifer L., Weng, Lu-Chen, Nauffal, Victor, Roselli, Carolina, Hall, Amelia W., Oetjens, Matthew T., Lagerman, Braxton, vanMaanen, David P., Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Beechert, Christina, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, de, Tanima, Deubler, Andrew, Economides, Aris, Eom, Gisu, Ferreira, Manuel A. R., Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B., Karalis, Katia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lattari, Michael, Li, Dadong, Lopez, Alexander, Lotta, Luca A., Manoochehri, Kia, Mansfield, Adam J., Maxwell, Evan K., Mighty, Jason, Mitnaul, Lyndon J., Nafde, Mona, Nielsen, Jonas, O’Keeffe, Sean, Orelus, Max, Overton, John D., Padilla, Maria Sotiropoulos, Panea, Razvan, Polanco, Tommy, Pradhan, Manasi, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Schleicher, Thomas D., Shuldiner, Alan, Siminovitch, Katherine, Staples, Jeffrey C., Ulloa, Ricardo H., Verweij, Niek, Widom, Louis, Wolf, Sarah E., Aragam, Krishna G., Lunetta, Kathryn L., Haggerty, Christopher M., Lubitz, Steven A., Ellinor, Patrick T., Cardiology, Graduate School, and ACS - Amsterdam Cardiovascular Sciences
Subjects: Genetics
Abstract: Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains incomplete. Here, we analyzed the contribution of rare variants to 57 diseases and 26 cardiometabolic traits, using data from 200,337 UK Biobank participants with whole-exome sequencing. We identified 57 gene-based associations, with broad replication of novel signals in Geisinger MyCode. There was a striking risk associated with mutations in known Mendelian disease genes, including MYBPC3, LDLR, GCK, PKD1 and TTN. Many genes showed independent convergence of rare and common variant evidence, including an association between GIGYF1 and type 2 diabetes. We identified several large effect associations for height and 18 unique genes associated with blood lipid or glucose levels. Finally, we found that between 1.0% and 2.4% of participants carried rare potentially pathogenic variants for cardiometabolic disorders. These findings may facilitate studies aimed at therapeutics and screening of these common disorders.
Published: 2022

15. Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle‐aged and older adults: A population‐based cohort study

Author: Manderstedt, Eric, primary, Lind‐Halldén, Christina, additional, Halldén, Christer, additional, Elf, Johan, additional, Svensson, Peter J., additional, Engström, Gunnar, additional, Melander, Olle, additional, Baras, Aris, additional, Lotta, Luca A., additional, Zöller, Bengt, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Blumenfeld, Andrew, additional, Boutkov, Boris, 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, Nafde, Mrunali, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Jones, Marcus B., additional, Mighty, Jason, additional, and Mitnaul, Lyndon J., additional
Published: 2022
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16. Thrombotic risk determined by rare and common SERPINA1 variants in a population‐based cohort study

Author: Manderstedt, Eric, Halldén, Christer, Lind‐Halldén, Christina, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Padilla, Maria Sotiropoulos, Pradhan, Manasi, Schleicher, Thomas D., Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mighty, Jason, and Mitnaul, Lyndon J.
Published: 2022
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17. Plasma lipid profiling across species for the identification of optimal animal models of human dyslipidemia

Author: Yin, Wu, Carballo-Jane, Ester, McLaren, David G., Mendoza, Vivienne H., Gagen, Karen, Geoghagen, Neil S., McNamara, Lesley Ann, Gorski, Judith N., Eiermann, George J., Petrov, Aleksandr, Wolff, Michael, Tong, Xinchun, Wilsie, Larissa C., Akiyama, Taro E., Chen, Jing, Thankappan, Anil, Xue, Jiyan, Ping, Xiaoli, Andrews, Genevieve, Wickham, L. Alexandra, Gai, Cesaire L., Trinh, Tu, Kulick, Alison A., Donnelly, Marcie J., Voronin, Gregory O., Rosa, Ray, Cumiskey, Anne-Marie, Bekkari, Kavitha, Mitnaul, Lyndon J., Puig, Oscar, Chen, Fabian, Raubertas, Richard, Wong, Peggy H., Hansen, Barbara C., Koblan, Ken S., Roddy, Thomas P., Hubbard, Brian K, and Strack, Alison M.
Published: 2012
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18. siRNA-induced liver ApoB knockdown lowers serum LDL-cholesterol in a mouse model with human-like serum lipids

Author: Tadin-Strapps, Marija, Peterson, Laurence B., Cumiskey, Anne-Marie, Rosa, Raymond L., Mendoza, Vivienne Halili, Castro-Perez, Jose, Puig, Oscar, Zhang, Liwen, Strapps, Walter R., Yendluri, Satyasri, Andrews, Lori, Pickering, Victoria, Rice, Julie, Luo, Lily, Chen, Zhu, Tep, Samnang, Ason, Brandon, Somers, Elizabeth Polizzi, Sachs, Alan B., Bartz, Steven R., Tian, Jenny, Chin, Jayne, Hubbard, Brian K., Wong, Kenny K., and Mitnaul, Lyndon J.
Published: 2011
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19. A PCSK9-binding antibody that structurally mimics the EGF(A) domain of LDL-receptor reduces LDL cholesterol in vivo1[S]

Author: Ni, Yan G., Di Marco, Stefania, Condra, Jon H., Peterson, Laurence B., Wang, Weirong, Wang, Fubao, Pandit, Shilpa, Hammond, Holly A., Rosa, Ray, Cummings, Richard T., Wood, Dana D., Liu, Xiaomei, Bottomley, Matthew J., Shen, Xun, Cubbon, Rose M., Wang, Sheng-ping, Johns, Douglas G., Volpari, Cinzia, Hamuro, Lora, Chin, Jayne, Huang, Lingyi, Zhao, Jing Zhang, Vitelli, Salvatore, Haytko, Peter, Wisniewski, Douglas, Mitnaul, Lyndon J., Sparrow, Carl P., Hubbard, Brian, Carfí, Andrea, and Sitlani, Ayesha
Published: 2011
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20. Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

Author: Wang, Louise, primary, Desai, Heena, additional, Verma, Shefali S., additional, Le, Anh, additional, Hausler, Ryan, additional, Verma, Anurag, additional, Judy, Renae, additional, Doucette, Abigail, additional, Gabriel, Peter E., additional, Nathanson, Katherine L., additional, Damrauer, Scott M., additional, Mowery, Danielle L., additional, Ritchie, Marylyn D., additional, Kember, Rachel L., additional, Maxwell, Kara N., additional, Abecasis, Goncalo, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Baras, Aris, additional, Blumenfeld, Andrew, additional, Boutkov, Boris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Jones, Marcus B., additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Lotta, Luca A., additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nafde, Mrunali, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Overton, John D., additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Reid, Jeffrey G., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Manoochehri, Kia, additional, Pradhan, Manasi, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Ulloa, Ricardo H., additional, Widom, Louis, additional, and Wolf, Sarah E., additional
Published: 2022
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21. Classic Thrombophilias and Thrombotic Risk Among Middle‐Aged and Older Adults: A Population‐Based Cohort Study

Author: Manderstedt, Eric, primary, Lind‐Halldén, Christina, additional, Halldén, Christer, additional, Elf, Johan, additional, Svensson, Peter J., additional, Dahlbäck, Björn, additional, Engström, Gunnar, additional, Melander, Olle, additional, Baras, Aris, additional, Lotta, Luca A., additional, Zöller, Bengt, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca A, additional, Overton, John D, additional, Reid, Jeffrey G, additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D, additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D, additional, Padilla, Maria Sotiropoulos, additional, Widom, Louis, additional, Wolf, Sarah E, additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Blumenfeld, Andrew, additional, Boutkov, Boris, 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, Nafde, Mrunali, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C, additional, Jones, Marcus B, additional, Mighty, Jason, additional, and Mitnaul, Lyndon J, additional
Published: 2022
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22. Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581]

Author: Cordell, Heather J., primary, Fryett, James J., additional, Ueno, Kazuko, additional, Darlay, Rebecca, additional, Aiba, Yoshihiro, additional, Hitomi, Yuki, additional, Kawashima, Minae, additional, Nishida, Nao, additional, Khor, Seik-Soon, additional, Gervais, Olivier, additional, Kawai, Yosuke, additional, Nagasaki, Masao, additional, Tokunaga, Katsushi, additional, Tang, Ruqi, additional, Shi, Yongyong, additional, Li, Zhiqiang, additional, Juran, Brian D., additional, Atkinson, Elizabeth J., additional, Gerussi, Alessio, additional, Carbone, Marco, additional, Asselta, Rosanna, additional, Cheung, Angela, additional, de Andrade, Mariza, additional, Baras, Aris, additional, Horowitz, Julie, additional, Ferreira, Manuel A.R., additional, Sun, Dylan, additional, Jones, David E., additional, Flack, Steven, additional, Spicer, Ann, additional, Mulcahy, Victoria L., additional, Byun, Jinyoung, additional, Han, Younghun, additional, Sandford, Richard N., additional, Lazaridis, Konstantinos N., additional, Amos, Christopher I., additional, Hirschfield, Gideon M., additional, Seldin, Michael F., additional, Invernizzi, Pietro, additional, Siminovitch, Katherine A., additional, Ma, Xiong, additional, Nakamura, Minoru, additional, Mells, George F., additional, Mason, Andrew, additional, Vincent, Catherine, additional, Xie, Gang, additional, Zhang, Jinyi, additional, Affronti, Andrea, additional, Almasio, Piero L., additional, Alvaro, Domenico, additional, Andreone, Pietro, additional, Andriulli, Angelo, additional, Azzaroli, Francesco, additional, Battezzati, Pier Maria, additional, Benedetti, Antonio, additional, Bragazzi, MariaConsiglia, additional, Brunetto, Maurizia, additional, Bruno, Savino, additional, Calvaruso, Vincenza, additional, Cardinale, Vincenzo, additional, Casella, Giovanni, additional, Cazzagon, Nora, additional, Ciaccio, Antonio, additional, Coco, Barbara, additional, Colli, Agostino, additional, Colloredo, Guido, additional, Colombo, Massimo, additional, Colombo, Silvia, additional, Cristoferi, Laura, additional, Cursaro, Carmela, additional, Crocè, Lory Saveria, additional, Crosignani, Andrea, additional, D’Amato, Daphne, additional, Donato, Francesca, additional, Elia, Gianfranco, additional, Fabris, Luca, additional, Fagiuoli, Stefano, additional, Ferrari, Carlo, additional, Floreani, Annarosa, additional, Galli, Andrea, additional, Giannini, Edoardo, additional, Grattagliano, Ignazio, additional, Lampertico, Pietro, additional, Lleo, Ana, additional, Malinverno, Federica, additional, Mancuso, Clara, additional, Marra, Fabio, additional, Marzioni, Marco, additional, Massironi, Sara, additional, Mattalia, Alberto, additional, Miele, Luca, additional, Milani, Chiara, additional, Morini, Lorenzo, additional, Morisco, Filomena, additional, Muratori, Luigi, additional, Muratori, Paolo, additional, Niro, Grazia A., additional, O’Donnell, Sarah, additional, Picciotto, Antonio, additional, Portincasa, Piero, additional, Rigamonti, Cristina, additional, Ronca, Vincenzo, additional, Rosina, Floriano, additional, Spinzi, Giancarlo, additional, Strazzabosco, Mario, additional, Tarocchi, Mirko, additional, Tiribelli, Claudio, additional, Toniutto, Pierluigi, additional, Valenti, Luca, additional, Vinci, Maria, additional, Zuin, Massimo, additional, Nakamura, Hitomi, additional, Abiru, Seigo, additional, Nagaoka, Shinya, additional, Komori, Atsumasa, additional, Yatsuhashi, Hiroshi, additional, Ishibashi, Hiromi, additional, Ito, Masahiro, additional, Migita, Kiyoshi, additional, Ohira, Hiromasa, additional, Katsushima, Shinji, additional, Naganuma, Atsushi, additional, Sugi, Kazuhiro, additional, Komatsu, Tatsuji, additional, Mannami, Tomohiko, additional, Matsushita, Kouki, additional, Yoshizawa, Kaname, additional, Makita, Fujio, additional, Nikami, Toshiki, additional, Nishimura, Hideo, additional, Kouno, Hiroshi, additional, Kouno, Hirotaka, additional, Ota, Hajime, additional, Komura, Takuya, additional, Nakamura, Yoko, additional, Shimada, Masaaki, additional, Hirashima, Noboru, additional, Komeda, Toshiki, additional, Ario, Keisuke, additional, Nakamuta, Makoto, additional, Yamashita, Tsutomu, additional, Furuta, Kiyoshi, additional, Kikuchi, Masahiro, additional, Naeshiro, Noriaki, additional, Takahashi, Hironao, additional, Mano, Yutaka, additional, Tsunematsu, Seiji, additional, Yabuuchi, Iwao, additional, Shimada, Yusuke, additional, Yamauchi, Kazuhiko, additional, Sugimoto, Rie, additional, Sakai, Hironori, additional, Mita, Eiji, additional, Koda, Masaharu, additional, Tsuruta, Satoru, additional, Kamitsukasa, Hiroshi, additional, Sato, Takeaki, additional, Masaki, Naohiko, additional, Kobata, Tatsuro, additional, Fukushima, Nobuyoshi, additional, Ohara, Yukio, additional, Muro, Toyokichi, additional, Takesaki, Eiichi, additional, Takaki, Hitoshi, additional, Yamamoto, Tetsuo, additional, Kato, Michio, additional, Nagaoki, Yuko, additional, Hayashi, Shigeki, additional, Ishida, Jinya, additional, Watanabe, Yukio, additional, Kobayashi, Masakazu, additional, Koga, Michiaki, additional, Saoshiro, Takeo, additional, Yagura, Michiyasu, additional, Hirata, Keisuke, additional, Tanaka, Atsushu, additional, Takikawa, Hajime, additional, Zeniya, Mikio, additional, Abe, Masanori, additional, Onji, Morikazu, additional, Kaneko, Shuichi, additional, Honda, Masao, additional, Arai, Kuniaki, additional, Arinaga-Hino, Teruko, additional, Hashimoto, Etsuko, additional, Taniai, Makiko, additional, Umemura, Takeji, additional, Joshita, Satoru, additional, Nakao, Kazuhiko, additional, Ichikawa, Tatsuki, additional, Shibata, Hidetaka, additional, Yamagiwa, Satoshi, additional, Seike, Masataka, additional, Honda, Koichi, additional, Sakisaka, Shotaro, additional, Takeyama, Yasuaki, additional, Harada, Masaru, additional, Senju, Michio, additional, Yokosuka, Osamu, additional, Kanda, Tatsuo, additional, Ueno, Yoshiyuki, additional, Kikuchi, Kentaro, additional, Ebinuma, Hirotoshi, additional, Himoto, Takashi, additional, Yasunami, Michio, additional, Murata, Kazumoto, additional, Mizokami, Masashi, additional, Kawata, Kazuhito, additional, Shimoda, Shinji, additional, Miyake, Yasuhiro, additional, Takaki, Akinobu, additional, Yamamoto, Kazuhide, additional, Hirano, Katsuji, additional, Ichida, Takafumi, additional, Ido, Akio, additional, Tsubouchi, Hirohito, additional, Chayama, Kazuaki, additional, Harada, Kenichi, additional, Nakanuma, Yasuni, additional, Maehara, Yoshihiko, additional, Taketomi, Akinobu, additional, Shirabe, Ken, additional, Soejima, Yuji, additional, Mori, Akira, additional, Yagi, Shintaro, additional, Uemoto, Shinji, additional, H, Egawa, additional, Tanaka, Tomohiro, additional, Yamashiki, Noriyo, additional, Tamura, Sumito, additional, Sugawara, Yasuhiro, additional, Kokudo, Norihiro, additional, Chalasani, Naga, additional, Luketic, Vel, additional, Odin, Joseph, additional, Chopra, Kapil, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Toledo, Karina, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Barnard, Leland, additional, Blumenfeld, Andrew, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Maxwell, Evan K., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Jones, Marcus B., additional, Mitnaul, Lyndon J., additional, Sturgess, Richard, additional, Healey, Christopher, additional, Yeoman, Andrew, additional, Gunasekera, Anton VJ., additional, Kooner, Paul, additional, Kapur, Kapil, additional, Sathyanarayana, V., additional, Kallis, Yiannis, additional, Subhani, Javaid, additional, Harvey, Rory, additional, McCorry, Roger, additional, Rooney, Paul, additional, Ramanaden, David, additional, Evans, Richard, additional, Mathialahan, Thiriloganathan, additional, Gasem, Jaber, additional, Shorrock, Christopher, additional, Bhalme, Mahesh, additional, Southern, Paul, additional, Tibble, Jeremy A., additional, Gorard, David A., additional, Jones, Susan, additional, Mells, George, additional, Mulcahy, Victoria, additional, Srivastava, Brijesh, additional, Foxton, Matthew R., additional, Collins, Carole E., additional, Elphick, David, additional, Karmo, Mazn, additional, Porras-Perez, Francisco, additional, Mendall, Michael, additional, Yapp, Tom, additional, Patel, Minesh, additional, Ede, Roland, additional, Sayer, Joanne, additional, Jupp, James, additional, Fisher, Neil, additional, Carter, Martyn J., additional, Koss, Konrad, additional, Shah, Jayshri, additional, Piotrowicz, Andrzej, additional, Scott, Glyn, additional, Grimley, Charles, additional, Gooding, Ian R., additional, Williams, Simon, additional, Tidbury, Judith, additional, Lim, Guan, additional, Cheent, Kuldeep, additional, Levi, Sass, additional, Mansour, Dina, additional, Beckley, Matilda, additional, Hollywood, Coral, additional, Wong, Terry, additional, Marley, Richard, additional, Ramage, John, additional, Gordon, Harriet M., additional, Ridpath, Jo, additional, Ngatchu, Theodore, additional, Bob Grover, Vijay Paul, additional, Shidrawi, Ray G., additional, Abouda, George, additional, Corless, L., additional, Narain, Mark, additional, Rees, Ian, additional, Brown, Ashley, additional, Taylor-Robinson, Simon, additional, Wilkins, Joy, additional, Grellier, Leonie, additional, Banim, Paul, additional, Das, Debasish, additional, Heneghan, Michael A., additional, Curtis, Howard, additional, Matthews, Helen C., additional, Mohammed, Faiyaz, additional, Aldersley, Mark, additional, Srirajaskanthan, Raj, additional, Walker, Giles, additional, McNair, Alistair, additional, Sharif, Amar, additional, Sen, Sambit, additional, Bird, George, additional, Prince, Martin I., additional, Prasad, Geeta, additional, Kitchen, Paul, additional, Barnardo, Adrian, additional, Oza, Chirag, additional, Sivaramakrishnan, Nurani N., additional, Gupta, Prakash, additional, Shah, Amir, additional, Evans, Chris DJ., additional, Saha, Subrata, additional, Pollock, Katharine, additional, Bramley, Peter, additional, Mukhopadhya, Ashis, additional, Barclay, Stephen T., additional, McDonald, Natasha, additional, Bathgate, Andrew J., additional, Palmer, Kelvin, additional, Dillon, John F., additional, Rushbrook, Simon M., additional, Przemioslo, Robert, additional, McDonald, Chris, additional, Millar, Andrew, additional, Tai, Cheh, additional, Mitchell, Stephen, additional, Metcalf, Jane, additional, Shaukat, Syed, additional, Ninkovic, Mary, additional, Shmueli, Udi, additional, Davis, Andrew, additional, Naqvi, Asifabbas, additional, Lee, Tom JW., additional, Ryder, Stephen, additional, Collier, Jane, additional, Klass, Howard, additional, Cramp, Matthew E., additional, Sharer, Nichols, additional, Aspinall, Richard, additional, Ghosh, Deb, additional, Douds, Andrew C., additional, Booth, Jonathan, additional, Williams, Earl, additional, Hussaini, Hyder, additional, Christie, John, additional, Mann, Steven, additional, Thorburn, Douglas, additional, Marshall, Aileen, additional, Patanwala, Imran, additional, Ala, Aftab, additional, Maltby, Julia, additional, Matthew, Ray, additional, Corbett, Chris, additional, Vyas, Sam, additional, Singhal, Saket, additional, Gleeson, Dermot, additional, Misra, Sharat, additional, Butterworth, Jeff, additional, George, Keith, additional, Harding, Tim, additional, Douglass, Andrew, additional, Mitchison, Harriet, additional, Panter, Simon, additional, Shearman, Jeremy, additional, Bray, Gary, additional, Roberts, Michael, additional, Butcher, Graham, additional, Forton, Daniel, additional, Mahmood, Zahid, additional, Cowan, Matthew, additional, Das, Debashis, additional, Ch'ng, Chin Lye, additional, Rahman, Mesbah, additional, Whatley, Gregory C.A., additional, Wesley, Emma, additional, Mandal, Aditya, additional, Jain, Sanjiv, additional, Pereira, Stephen P., additional, Wright, Mark, additional, Trivedi, Palak, additional, Gordon, Fiona H., additional, Unitt, Esther, additional, Palejwala, Altaf, additional, Austin, Andrew, additional, Vemala, Vishwaraj, additional, Grant, Allister, additional, Higham, Andrew D., additional, Brind, Alison, additional, Mathew, Ray, additional, Cox, Mark, additional, Ramakrishnan, Subramaniam, additional, King, Alistair, additional, Whalley, Simon, additional, Fraser, Jocelyn, additional, Thomson, S.J., additional, Bell, Andrew, additional, Wong, Voi Shim, additional, Kia, Richard, additional, Gee, Ian, additional, Keld, Richard, additional, Ransford, Rupert, additional, Gotto, James, additional, and Millson, Charles, additional
Published: 2021
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23. Coordinate Regulation of Tetrahydrobiopterin Turnover and Phenylalanine Hydroxylase Activity in Rat Liver Cells

Author: Mitnaul, Lyndon J. and Shiman, Ross
Published: 1995

24. Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study

Author: Manderstedt, Eric, primary, Halldén, Christer, additional, Lind-Halldén, Christina, additional, Elf, Johan, additional, Svensson, Peter J., additional, Engström, Gunnar, additional, Melander, Olle, additional, Baras, Aris, additional, Lotta, Luca A, additional, Zöller, Bengt, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Karalis, Katia, additional, Siminovitch, Katherine, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Sotiropoulos Padilla, Maria, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Blumenfeld, Andrew, additional, Boutkov, Boris, 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, Nafde, Mrunali, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Verweij, Niek, additional, Nielsen, Jonas, additional, De, Tanima, additional, Jones, Marcus B., additional, Mighty, Jason, additional, LeBlanc, Michelle G., additional, and Mitnaul, Lyndon J., additional
Published: 2021
Full Text: View/download PDF

25. An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

Author: Cordell, Heather J., primary, Fryett, James J., additional, Ueno, Kazuko, additional, Darlay, Rebecca, additional, Aiba, Yoshihiro, additional, Hitomi, Yuki, additional, Kawashima, Minae, additional, Nishida, Nao, additional, Khor, Seik-Soon, additional, Gervais, Olivier, additional, Kawai, Yosuke, additional, Nagasaki, Masao, additional, Tokunaga, Katsushi, additional, Tang, Ruqi, additional, Shi, Yongyong, additional, Li, Zhiqiang, additional, Juran, Brian D., additional, Atkinson, Elizabeth J., additional, Gerussi, Alessio, additional, Carbone, Marco, additional, Asselta, Rosanna, additional, Cheung, Angela, additional, de Andrade, Mariza, additional, Baras, Aris, additional, Horowitz, Julie, additional, Ferreira, Manuel A.R., additional, Sun, Dylan, additional, Jones, David E., additional, Flack, Steven, additional, Spicer, Ann, additional, Mulcahy, Victoria L., additional, Byan, Jinyoung, additional, Han, Younghun, additional, Sandford, Richard N., additional, Lazaridis, Konstantinos N., additional, Amos, Christopher I., additional, Hirschfield, Gideon M., additional, Seldin, Michael F., additional, Invernizzi, Pietro, additional, Siminovitch, Katherine A., additional, Ma, Xiong, additional, Nakamura, Minoru, additional, Mells, George F., additional, Mason, Andrew, additional, Vincent, Catherine, additional, Xie, Gang, additional, Zhang, Jinyi, additional, Affronti, Andrea, additional, Almasio, Piero L., additional, Alvaro, Domenico, additional, Andreone, Pietro, additional, Andriulli, Angelo, additional, Azzaroli, Francesco, additional, Battezzati, Pier Maria, additional, Benedetti, Antonio, additional, Bragazzi, MariaConsiglia, additional, Brunetto, Maurizia, additional, Bruno, Savino, additional, Calvaruso, Vincenza, additional, Cardinale, Vincenzo, additional, Casella, Giovanni, additional, Cazzagon, Nora, additional, Ciaccio, Antonio, additional, Coco, Barbara, additional, Colli, Agostino, additional, Colloredo, Guido, additional, Colombo, Massimo, additional, Colombo, Silvia, additional, Cristoferi, Laura, additional, Cursaro, Carmela, additional, Crocè, Lory Saveria, additional, Crosignani, Andrea, additional, D’Amato, Daphne, additional, Donato, Francesca, additional, Elia, Gianfranco, additional, Fabris, Luca, additional, Fagiuoli, Stefano, additional, Ferrari, Carlo, additional, Floreani, Annarosa, additional, Galli, Andrea, additional, Giannini, Edoardo, additional, Grattagliano, Ignazio, additional, Lampertico, Pietro, additional, Lleo, Ana, additional, Malinverno, Federica, additional, Mancuso, Clara, additional, Marra, Fabio, additional, Marzioni, Marco, additional, Massironi, Sara, additional, Mattalia, Alberto, additional, Miele, Luca, additional, Milani, Chiara, additional, Morini, Lorenzo, additional, Morisco, Filomena, additional, Muratori, Luigi, additional, Muratori, Paolo, additional, Niro, Grazia A., additional, O’Donnell, Sarah, additional, Picciotto, Antonio, additional, Portincasa, Piero, additional, Rigamonti, Cristina, additional, Ronca, Vincenzo, additional, Rosina, Floriano, additional, Spinzi, Giancarlo, additional, Strazzabosco, Mario, additional, Tarocchi, Mirko, additional, Tiribelli, Claudio, additional, Toniutto, Pierluigi, additional, Valenti, Luca, additional, Vinci, Maria, additional, Zuin, Massimo, additional, Nakamura, Hitomi, additional, Abiru, Seigo, additional, Nagaoka, Shinya, additional, Komori, Atsumasa, additional, Yatsuhashi, Hiroshi, additional, Ishibashi, Hiromi, additional, Ito, Masahiro, additional, Migita, Kiyoshi, additional, Ohira, Hiromasa, additional, Katsushima, Shinji, additional, Naganuma, Atsushi, additional, Sugi, Kazuhiro, additional, Komatsu, Tatsuji, additional, Mannami, Tomohiko, additional, Matsushita, Kouki, additional, Yoshizawa, Kaname, additional, Makita, Fujio, additional, Nikami, Toshiki, additional, Nishimura, Hideo, additional, Kouno, Hiroshi, additional, Kouno, Hirotaka, additional, Ota, Hajime, additional, Komura, Takuya, additional, Nakamura, Yoko, additional, Shimada, Masaaki, additional, Hirashima, Noboru, additional, Komeda, Toshiki, additional, Ario, Keisuke, additional, Nakamuta, Makoto, additional, Yamashita, Tsutomu, additional, Furuta, Kiyoshi, additional, Kikuchi, Masahiro, additional, Naeshiro, Noriaki, additional, Takahashi, Hironao, additional, Mano, Yutaka, additional, Tsunematsu, Seiji, additional, Yabuuchi, Iwao, additional, Shimada, Yusuke, additional, Yamauchi, Kazuhiko, additional, Sugimoto, Rie, additional, Sakai, Hironori, additional, Mita, Eiji, additional, Koda, Masaharu, additional, Tsuruta, Satoru, additional, Kamitsukasa, Hiroshi, additional, Sato, Takeaki, additional, Masaki, Naohiko, additional, Kobata, Tatsuro, additional, Fukushima, Nobuyoshi, additional, Ohara, Yukio, additional, Muro, Toyokichi, additional, Takesaki, Eiichi, additional, Takaki, Hitoshi, additional, Yamamoto, Tetsuo, additional, Kato, Michio, additional, Nagaoki, Yuko, additional, Hayashi, Shigeki, additional, Ishida, Jinya, additional, Watanabe, Yukio, additional, Kobayashi, Masakazu, additional, Koga, Michiaki, additional, Saoshiro, Takeo, additional, Yagura, Michiyasu, additional, Hirata, Keisuke, additional, Tanaka, Atsushu, additional, Takikawa, Hajime, additional, Zeniya, Mikio, additional, Abe, Masanori, additional, Onji, Morikazu, additional, Kaneko, Shuichi, additional, Honda, Masao, additional, Arai, Kuniaki, additional, Arinaga-Hino, Teruko, additional, Hashimoto, Etsuko, additional, Taniai, Makiko, additional, Umemura, Takeji, additional, Joshita, Satoru, additional, Nakao, Kazuhiko, additional, Ichikawa, Tatsuki, additional, Shibata, Hidetaka, additional, Yamagiwa, Satoshi, additional, Seike, Masataka, additional, Honda, Koichi, additional, Sakisaka, Shotaro, additional, Takeyama, Yasuaki, additional, Harada, Masaru, additional, Senju, Michio, additional, Yokosuka, Osamu, additional, Kanda, Tatsuo, additional, Ueno, Yoshiyuki, additional, Kikuchi, Kentaro, additional, Ebinuma, Hirotoshi, additional, Himoto, Takashi, additional, Yasunami, Michio, additional, Murata, Kazumoto, additional, Mizokami, Masashi, additional, Kawata, Kazuhito, additional, Shimoda, Shinji, additional, Miyake, Yasuhiro, additional, Takaki, Akinobu, additional, Yamamoto, Kazuhide, additional, Hirano, Katsuji, additional, Ichida, Takafumi, additional, Ido, Akio, additional, Tsubouchi, Hirohito, additional, Chayama, Kazuaki, additional, Harada, Kenichi, additional, Nakanuma, Yasuni, additional, Maehara, Yoshihiko, additional, Taketomi, Akinobu, additional, Shirabe, Ken, additional, Soejima, Yuji, additional, Mori, Akira, additional, Yagi, Shintaro, additional, Uemoto, Shinji, additional, H, Egawa, additional, Tanaka, Tomohiro, additional, Yamashiki, Noriyo, additional, Tamura, Sumito, additional, Sugawara, Yasuhiro, additional, Kokudo, Norihiro, additional, Chalasani, Naga, additional, Luketic, Vel, additional, Odin, Joseph, additional, Chopra, Kapil, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Toledo, Karina, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Barnard, Leland, additional, Blumenfeld, Andrew, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Maxwell, Evan K., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Jones, Marcus B., additional, Mitnaul, Lyndon J., additional, Sturgess, Richard, additional, Healey, Christopher, additional, Yeoman, Andrew, additional, Gunasekera, Anton VJ., additional, Kooner, Paul, additional, Kapur, Kapil, additional, Sathyanarayana, V., additional, Kallis, Yiannis, additional, Subhani, Javaid, additional, Harvey, Rory, additional, McCorry, Roger, additional, Rooney, Paul, additional, Ramanaden, David, additional, Evans, Richard, additional, Mathialahan, Thiriloganathan, additional, Gasem, Jaber, additional, Shorrock, Christopher, additional, Bhalme, Mahesh, additional, Southern, Paul, additional, Tibble, Jeremy A., additional, Gorard, David A., additional, Jones, Susan, additional, Mells, George, additional, Mulcahy, Victoria, additional, Srivastava, Brijesh, additional, Foxton, Matthew R., additional, Collins, Carole E., additional, Elphick, David, additional, Karmo, Mazn, additional, Porras-Perez, Francisco, additional, Mendall, Michael, additional, Yapp, Tom, additional, Patel, Minesh, additional, Ede, Roland, additional, Sayer, Joanne, additional, Jupp, James, additional, Fisher, Neil, additional, Carter, Martyn J., additional, Koss, Konrad, additional, Shah, Jayshri, additional, Piotrowicz, Andrzej, additional, Scott, Glyn, additional, Grimley, Charles, additional, Gooding, Ian R., additional, Williams, Simon, additional, Tidbury, Judith, additional, Lim, Guan, additional, Cheent, Kuldeep, additional, Levi, Sass, additional, Mansour, Dina, additional, Beckley, Matilda, additional, Hollywood, Coral, additional, Wong, Terry, additional, Marley, Richard, additional, Ramage, John, additional, Gordon, Harriet M., additional, Ridpath, Jo, additional, Ngatchu, Theodore, additional, Bob Grover, Vijay Paul, additional, Shidrawi, Ray G., additional, Abouda, George, additional, Corless, L., additional, Narain, Mark, additional, Rees, Ian, additional, Brown, Ashley, additional, Taylor-Robinson, Simon, additional, Wilkins, Joy, additional, Grellier, Leonie, additional, Banim, Paul, additional, Das, Debasish, additional, Heneghan, Michael A., additional, Curtis, Howard, additional, Matthews, Helen C., additional, Mohammed, Faiyaz, additional, Aldersley, Mark, additional, Srirajaskanthan, Raj, additional, Walker, Giles, additional, McNair, Alistair, additional, Sharif, Amar, additional, Sen, Sambit, additional, Bird, George, additional, Prince, Martin I., additional, Prasad, Geeta, additional, Kitchen, Paul, additional, Barnardo, Adrian, additional, Oza, Chirag, additional, Sivaramakrishnan, Nurani N., additional, Gupta, Prakash, additional, Shah, Amir, additional, Evans, Chris DJ., additional, Saha, Subrata, additional, Pollock, Katharine, additional, Bramley, Peter, additional, Mukhopadhya, Ashis, additional, Barclay, Stephen T., additional, McDonald, Natasha, additional, Bathgate, Andrew J., additional, Palmer, Kelvin, additional, Dillon, John F., additional, Rushbrook, Simon M., additional, Przemioslo, Robert, additional, McDonald, Chris, additional, Millar, Andrew, additional, Tai, Cheh, additional, Mitchell, Stephen, additional, Metcalf, Jane, additional, Shaukat, Syed, additional, Ninkovic, Mary, additional, Shmueli, Udi, additional, Davis, Andrew, additional, Naqvi, Asifabbas, additional, Lee, Tom JW., additional, Ryder, Stephen, additional, Collier, Jane, additional, Klass, Howard, additional, Cramp, Matthew E., additional, Sharer, Nichols, additional, Aspinall, Richard, additional, Ghosh, Deb, additional, Douds, Andrew C., additional, Booth, Jonathan, additional, Williams, Earl, additional, Hussaini, Hyder, additional, Christie, John, additional, Mann, Steven, additional, Thorburn, Douglas, additional, Marshall, Aileen, additional, Patanwala, Imran, additional, Ala, Aftab, additional, Maltby, Julia, additional, Matthew, Ray, additional, Corbett, Chris, additional, Vyas, Sam, additional, Singhal, Saket, additional, Gleeson, Dermot, additional, Misra, Sharat, additional, Butterworth, Jeff, additional, George, Keith, additional, Harding, Tim, additional, Douglass, Andrew, additional, Mitchison, Harriet, additional, Panter, Simon, additional, Shearman, Jeremy, additional, Bray, Gary, additional, Roberts, Michael, additional, Butcher, Graham, additional, Forton, Daniel, additional, Mahmood, Zahid, additional, Cowan, Matthew, additional, Das, Debashis, additional, Ch’ng, Chin Lye, additional, Rahman, Mesbah, additional, Whatley, Gregory C.A., additional, Wesley, Emma, additional, Mandal, Aditya, additional, Jain, Sanjiv, additional, Pereira, Stephen P., additional, Wright, Mark, additional, Trivedi, Palak, additional, Gordon, Fiona H., additional, Unitt, Esther, additional, Palejwala, Altaf, additional, Austin, Andrew, additional, Vemala, Vishwaraj, additional, Grant, Allister, additional, Higham, Andrew D., additional, Brind, Alison, additional, Mathew, Ray, additional, Cox, Mark, additional, Ramakrishnan, Subramaniam, additional, King, Alistair, additional, Whalley, Simon, additional, Fraser, Jocelyn, additional, Thomson, S.J., additional, Bell, Andrew, additional, Wong, Voi Shim, additional, Kia, Richard, additional, Gee, Ian, additional, Keld, Richard, additional, Ransford, Rupert, additional, Gotto, James, additional, and Millson, Charles, additional
Published: 2021
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26. Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Author: Boer, Cindy G., primary, Hatzikotoulas, Konstantinos, additional, Southam, Lorraine, additional, Stefánsdóttir, Lilja, additional, Zhang, Yanfei, additional, Coutinho de Almeida, Rodrigo, additional, Wu, Tian T., additional, Zheng, Jie, additional, Hartley, April, additional, Teder-Laving, Maris, additional, Skogholt, Anne Heidi, additional, Terao, Chikashi, additional, Zengini, Eleni, additional, Alexiadis, George, additional, Barysenka, Andrei, additional, Bjornsdottir, Gyda, additional, Gabrielsen, Maiken E., additional, Gilly, Arthur, additional, Ingvarsson, Thorvaldur, additional, Johnsen, Marianne B., additional, Jonsson, Helgi, additional, Kloppenburg, Margreet, additional, Luetge, Almut, additional, Lund, Sigrun H., additional, Mägi, Reedik, additional, Mangino, Massimo, additional, Nelissen, Rob R.G.H.H., additional, Shivakumar, Manu, additional, Steinberg, Julia, additional, Takuwa, Hiroshi, additional, Thomas, Laurent F., additional, Tuerlings, Margo, additional, Babis, George C., additional, Cheung, Jason Pui Yin, additional, Kang, Jae Hee, additional, Kraft, Peter, additional, Lietman, Steven A., additional, Samartzis, Dino, additional, Slagboom, P. Eline, additional, Stefansson, Kari, additional, Thorsteinsdottir, Unnur, additional, Tobias, Jonathan H., additional, Uitterlinden, André G., additional, Winsvold, Bendik, additional, Zwart, John-Anker, additional, Davey Smith, George, additional, Sham, Pak Chung, additional, Thorleifsson, Gudmar, additional, Gaunt, Tom R., additional, Morris, Andrew P., additional, Valdes, Ana M., additional, Tsezou, Aspasia, additional, Cheah, Kathryn S.E., additional, Ikegawa, Shiro, additional, Hveem, Kristian, additional, Esko, Tõnu, additional, Wilkinson, J. Mark, additional, Meulenbelt, Ingrid, additional, Lee, Ming Ta Michael, additional, van Meurs, Joyce B.J., additional, Styrkársdóttir, Unnur, additional, Zeggini, Eleftheria, additional, Loughlin, John, additional, Arden, Nigel, additional, Birrell, Fraser, additional, Carr, Andrew, additional, Deloukas, Panos, additional, Doherty, Michael, additional, McCaskie, Andrew W., additional, Ollier, William E.R., additional, Rai, Ashok, additional, Ralston, Stuart H., additional, Spector, Tim D., additional, Wallis, Gillian A., additional, Martinsen, Amy E., additional, Willer, Cristen, additional, Fors, Egil Andreas, additional, Mundal, Ingunn, additional, Hagen, Knut, additional, Nilsen, Kristian Bernhard, additional, Lie, Marie Udnesseter, additional, Børte, Sigrid, additional, Brumpton, Ben, additional, Nielsen, Jonas Bille, additional, Fritsche, Lars G., additional, Zhou, Wei, additional, Heuch, Ingrid, additional, Storheim, Kjersti, additional, Tyrpenou, Evangelos, additional, Koukakis, Athanasios, additional, Chytas, Dimitrios, additional, Evangelopoulos, Dimitrios Stergios, additional, Efstathios, Chronopoulos, additional, Pneumaticos, Spiros, additional, Nikolaou, Vasileios S., additional, Malizos, Konstantinos, additional, Anastasopoulou, Lydia, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Deubler, Andrew, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Karalis, Katia, additional, Siminovitch, Katherine, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Boutkov, Boris, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Li, Dadong, additional, Sharma, Deepika, additional, Banerjee, Ilanjana, additional, Bovijn, Jonas, additional, Locke, Adam, additional, Verweij, Niek, additional, Haas, Mary, additional, Hindy, George, additional, De, Tanima, additional, Akbari, Parsa, additional, Sosina, Olukayode, additional, Ferreira, Manuel A.R., additional, Jones, Marcus B., additional, Mighty, Jason, additional, LeBlanc, Michelle G., additional, and Mitnaul, Lyndon J., additional
Published: 2021
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27. ApoB siRNA-induced Liver Steatosis is Resistant to Clearance by the Loss of Fatty Acid Transport Protein 5 (Fatp5)

Author: Ason, Brandon, Castro-Perez, Jose, Tep, Samnang, Stefanni, Alice, Tadin-Strapps, Marija, Roddy, Thomas, Hankemeier, Thomas, Hubbard, Brian, Sachs, Alan B., Michael Flanagan, W., Kuklin, Nelly A., and Mitnaul, Lyndon J.
Published: 2011
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28. Integrating Experimental and Analytic Approaches to Improve Data Quality in Genome-wide RNAi Screens

Author: Zhang, Xiaohua Douglas, Espeseth, Amy S., Johnson, Eric N., Chin, Jayne, Gates, Adam, Mitnaul, Lyndon J., Marine, Shane D., Tian, Jenny, Stec, Eric M., Kunapuli, Priya, Holder, Dan J., Heyse, Joseph F., Strulovici, Berta, and Ferrer, Marc
Published: 2008
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29. MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Author: Surakka, Ida, Fritsche, Lars, Zhou, Wei, Backman, Joshua, Kosmicki, Jack A., Lu, Haocheng, Brumpton, Ben Michael, Nielsen, Jonas B., Gabrielsen, Maiken Elvestad, Skogholt, Anne Heidi, Wolford, Brooke N., Graham, Sarah E., Chen, Y. Eugene, Lee, Seunggeun, Kang, Hyun Min, Langhammer, Arnulf, Forsmo, Siri, Åsvold, Bjørn Olav, Styrkarsdottir, Unnur, Holm, Hilma, Gudbjartsson, Daniel F., Stefansson, Kari, Baras, Aris, Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Eom, Gisu, Habegger, Lukas, Hahn, Young, Hawes, Alicia, Jones, Marcus B., Khalid, Shareef, Lotta, Luca A., Maxwell, Evan K., Mitnaul, Lyndon J., Overton, John D., Reid, Jeffrey G., Ferreira, Manuel Allen Revez, Salerno, William, Sharma, Deepika, Shuldiner, Alan R., Staples, Jeffrey C., Yadav, Ashish, Abecasis, Goncalo R., Hveem, Kristian, and Willer, Cristen J.
Subjects: 0301 basic medicine, Oncology, Male, Osteoporosis, Iceland, General Physics and Astronomy, Genome-wide association study, Genome-wide association studies, Cohort Studies, Fractures, Bone, 0302 clinical medicine, Gene Frequency, Bone Density, lcsh:Science, Bone mineral, Aged, 80 and over, Extracellular Matrix Proteins, Multidisciplinary, Middle Aged, Cohort, Female, musculoskeletal diseases, Adult, medicine.medical_specialty, Science, Predictive medicine, 030209 endocrinology & metabolism, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Internal medicine, medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetic Association Studies, Genetic association, Genetic association study, Aged, Glycoproteins, business.industry, Genome, Human, Computational Biology, General Chemistry, medicine.disease, Phosphoproteins, Computational biology and bioinformatics, Minor allele frequency, 030104 developmental biology, MEPE, lcsh:Q, business, Imputation (genetics)
Abstract: A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enriching the discovery cohort for loss-of-function (LoF) mutations by sequencing a subset of the Nord-Trøndelag Health Study, followed by imputation in the remaining sample (N = 19,705), and identified ten known BMD loci. However, one previously unreported variant, LoF mutation in MEPE, p.(Lys70IlefsTer26, minor allele frequency [MAF] = 0.8%), was associated with decreased ultradistal forearm BMD (P-value = 2.1 × 10−18), and increased osteoporosis (P-value = 4.2 × 10−5) and fracture risk (P-value = 1.6 × 10−5). The MEPE LoF association with BMD and fractures was further evaluated in 279,435 UK (MAF = 0.05%, heel bone estimated BMD P-value = 1.2 × 10−16, any fracture P-value = 0.05) and 375,984 Icelandic samples (MAF = 0.03%, arm BMD P-value = 0.12, forearm fracture P-value = 0.005). Screening for the MEPE LoF mutations before adulthood could potentially prevent osteoporosis and fractures due to the lifelong effect on BMD observed in the study. A key implication for precision medicine is that high-impact functional variants missing from the publicly available cosmopolitan panels could be clinically more relevant than polygenic risk scores., Bone mineral density (BMD) is associated with fracture risk and many genetic loci with small effect sizes have been discovered by genome-wide association studies (GWAS). Here, the authors discover a large-effect rare loss-of-function genetic variant for BMD in the MEPE gene in the Norwegian HUNT study which replicates in the UK Biobank.
Published: 2020

30. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Author: Shah, Sonia, Henry, Albert, Roselli, Carolina, Lin, Honghuang, Sveinbjornsson, Gardar, Fatemifar, Ghazaleh, Hedman, Asa K, Wilk, Jemma B, Morley, Michael P, Chaffin, Mark D, Helgadottir, Anna, Verweij, Niek, Dehghan, Abbas, Almgren, Peter, Andersson, Charlotte, Aragam, Krishna G, Arnlov, Johan, Backman, Joshua D, Biggs, Mary L, Bloom, Heather L, Brandimarto, Jeffrey, Brown, Michael R, Buckbinder, Leonard, Carey, David J, Chasman, Daniel I, Chen, Xing, Chen, Xu, Chung, Jonathan, Chutkow, William, Cook, James P, Delgado, Graciela E, Denaxas, Spiros, Doney, Alexander S, Doerr, Marcus, Dudley, Samuel C, Dunn, Michael E, Engstrom, Gunnar, Esko, Tonu, Felix, Stephan B, Finan, Chris, Ford, Ian, Ghanbari, Mohsen, Ghasemi, Sahar, Giedraitis, Vilmantas, Giulianini, Franco, Gottdiener, John S, Gross, Stefan, Gudbjartsson, Daniel F, Gutmann, Rebecca, Haggerty, Christopher M, van der Harst, Pim, Hyde, Craig L, Ingelsson, Erik, Jukema, J Wouter, Kavousi, Maryam, Khaw, Kay-Tee, Kleber, Marcus E, Kober, Lars, Koekemoer, Andrea, Langenberg, Claudia, Lind, Lars, Lindgren, Cecilia M, London, Barry, Lotta, Luca A, Lovering, Ruth C, Luan, Jian'an, Magnusson, Patrik, Mahajan, Anubha, Margulies, Kenneth B, Maerz, Winfried, Melander, Olle, Mordi, Ify R, Morgan, Thomas, Morris, Andrew D, Morris, Andrew P, Morrison, Alanna C, Nagle, Michael W, Nelson, Christopher P, Niessner, Alexander, Niiranen, Teemu, O'Donoghue, Michelle L, Owens, Anjali T, Palmer, Colin NA, Parry, Helen M, Perola, Markus, Portilla-Fernandez, Eliana, Psaty, Bruce M, Rice, Kenneth M, Ridker, Paul M, Romaine, Simon PR, Rotter, Jerome I, Salo, Perttu, Salomaa, Veikko, van Setten, Jessica, Shalaby, Alaa A, Smelser, Diane T, Smith, Nicholas L, Stender, Steen, Stott, David J, Svensson, Per, Tammesoo, Mari-Liis, Taylor, Kent D, Teder-Laving, Maris, Teumer, Alexander, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Torp-Pedersen, Christian, Trompet, Stella, Tyl, Benoit, Uitterlinden, Andre G, Veluchamy, Abirami, Voelker, Uwe, Voors, Adriaan A, Wang, Xiaosong, Wareham, Nicholas J, Waterworth, Dawn, Weeke, Peter E, Weiss, Raul, Wiggins, Kerri L, Xing, Heming, Yerges-Armstrong, Laura M, Yu, Bing, Zannad, Faiez, Zhao, Jing Hua, Hemingway, Harry, Samani, Nilesh J, McMurray, John JV, Yang, Jian, Visscher, Peter M, Newton-Cheh, Christopher, Malarstig, Anders, Holm, Hilma, Lubitz, Steven A, Sattar, Naveed, Holmes, Michael V, Cappola, Thomas P, Asselbergs, Folkert W, Hingorani, Aroon D, Kuchenbaecker, Karoline, Ellinor, Patrick T, Lang, Chim C, Stefansson, Kari, Smith, J Gustav, Vasan, Ramachandran S, Swerdlow, Daniel I, Lumbers, R Thomas, Abecasis, Goncalo, Backman, Joshua, Bai, Xiaodong, Balasubramanian, Suganthi, Banerjee, Nilanjana, Baras, Aris, Barnard, Leland, Beechert, Christina, Blumenfeld, Andrew, Cantor, Michael, Chai, Yating, Coppola, Giovanni, Damask, Amy, Dewey, Frederick, Economides, Aris, Eom, Gisu, Forsythe, Caitlin, Fuller, Erin D, Gu, Zhenhua, Gurski, Lauren, Guzzardo, Paloma M, Habegger, Lukas, Hahn, Young, Hawes, Alicia, van Hout, Cristopher, Jones, Marcus B, Khalid, Shareef, Lattari, Michael, Li, Alexander, Lin, Nan, Liu, Daren, Lopez, Alexander, Manoochehri, Kia, Marchini, Jonathan, Marcketta, Anthony, Maxwell, Evan K, McCarthy, Shane, Mitnaul, Lyndon J, O'Dushlaine, Colm, Overton, John D, Padilla, Maria Sotiropoulos, Paulding, Charles, Penn, John, Pradhan, Manasi, Reid, Jeffrey G, Schleicher, Thomas D, Schurmann, Claudia, Shuldiner, Alan, Staples, Jeffrey C, Sun, Dylan, Toledo, Karina, Ulloa, Ricardo H, Widom, Louis, Wolf, Sarah E, Yadav, Ashish, Ye, Bin, Ctr, Regeneron Genetics, Shah, Sonia [0000-0001-5860-4526], Henry, Albert [0000-0001-7422-2288], Roselli, Carolina [0000-0001-5267-6756], Lin, Honghuang [0000-0003-3043-3942], Chaffin, Mark D. [0000-0002-1234-5562], Helgadottir, Anna [0000-0002-1806-2467], Verweij, Niek [0000-0002-4303-7685], Almgren, Peter [0000-0002-0473-0241], Chen, Xu [0000-0002-7299-3238], Ghanbari, Mohsen [0000-0002-9476-7143], Giedraitis, Vilmantas [0000-0003-3423-2021], Gross, Stefan [0000-0003-4121-7161], Guðbjartsson, Daníel F. [0000-0002-5222-9857], Hyde, Craig L. [0000-0002-6939-287X], Ingelsson, Erik [0000-0003-2256-6972], Jukema, J. Wouter [0000-0002-3246-8359], Kleber, Marcus E. [0000-0003-0663-7275], Koekemoer, Andrea [0000-0001-8222-3547], Langenberg, Claudia [0000-0002-5017-7344], Lindgren, Cecilia M. [0000-0002-4903-9374], Lovering, Ruth C. [0000-0002-9791-0064], Luan, Jian’an [0000-0003-3137-6337], Magnusson, Patrik [0000-0002-7315-7899], Mahajan, Anubha [0000-0001-5585-3420], Mordi, Ify R. [0000-0002-2686-729X], Morris, Andrew D. [0000-0002-1766-0473], Nagle, Michael W. [0000-0002-4677-7582], Nelson, Christopher P. [0000-0001-8025-2897], Palmer, Colin N. A. [0000-0002-6415-6560], Rice, Kenneth M. [0000-0002-3071-7278], Rotter, Jerome I. [0000-0001-7191-1723], Salomaa, Veikko [0000-0001-7563-5324], van Setten, Jessica [0000-0002-4934-7510], Svensson, Per [0000-0003-0372-6272], Taylor, Kent D. [0000-0002-2756-4370], Teder-Laving, Maris [0000-0002-5872-1850], Teumer, Alexander [0000-0002-8309-094X], Tyl, Benoit [0000-0001-5297-8412], Uitterlinden, Andre G. [0000-0002-7276-3387], Völker, Uwe [0000-0002-5689-3448], Wiggins, Kerri L. [0000-0003-2749-1279], Hemingway, Harry [0000-0003-2279-0624], Yang, Jian [0000-0003-2001-2474], Visscher, Peter M. [0000-0002-2143-8760], Lubitz, Steven A. [0000-0002-9599-4866], Sattar, Naveed [0000-0002-1604-2593], Cappola, Thomas P. [0000-0002-9630-7204], Asselbergs, Folkert W. [0000-0002-1692-8669], Kuchenbaecker, Karoline [0000-0001-9726-603X], Ellinor, Patrick T. [0000-0002-2067-0533], Vasan, Ramachandran S. [0000-0001-7357-5970], Lumbers, R. Thomas [0000-0002-9077-4741], Apollo - University of Cambridge Repository, Chaffin, Mark D [0000-0002-1234-5562], Guðbjartsson, Daníel F [0000-0002-5222-9857], Hyde, Craig L [0000-0002-6939-287X], Jukema, J Wouter [0000-0002-3246-8359], Kleber, Marcus E [0000-0003-0663-7275], Lindgren, Cecilia M [0000-0002-4903-9374], Lovering, Ruth C [0000-0002-9791-0064], Luan, Jian'an [0000-0003-3137-6337], Mordi, Ify R [0000-0002-2686-729X], Morris, Andrew D [0000-0002-1766-0473], Nagle, Michael W [0000-0002-4677-7582], Nelson, Christopher P [0000-0001-8025-2897], Palmer, Colin NA [0000-0002-6415-6560], Rice, Kenneth M [0000-0002-3071-7278], Rotter, Jerome I [0000-0001-7191-1723], Taylor, Kent D [0000-0002-2756-4370], Uitterlinden, Andre G [0000-0002-7276-3387], Wiggins, Kerri L [0000-0003-2749-1279], Visscher, Peter M [0000-0002-2143-8760], Lubitz, Steven A [0000-0002-9599-4866], Cappola, Thomas P [0000-0002-9630-7204], Asselbergs, Folkert W [0000-0002-1692-8669], Ellinor, Patrick T [0000-0002-2067-0533], Vasan, Ramachandran S [0000-0001-7357-5970], Lumbers, R Thomas [0000-0002-9077-4741], Palmer, Colin N A [0000-0002-6415-6560], Cardiovascular Centre (CVC), University of Queensland [Brisbane], University College of London [London] (UCL), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], University Medical Center Groningen [Groningen] (UMCG), Boston University School of Medicine (BUSM), Boston University [Boston] (BU), Framingham Heart Study, National Heart, Lung, and Blood Institute [Bethesda] (NHLBI)-Boston University [Boston] (BU), deCODE genetics [Reykjavik], Karolinska Institutet [Stockholm], Pfizer, University of Pennsylvania [Philadelphia], University of Groningen [Groningen], Imperial College London, Lund University [Lund], Herlev and Gentofte Hospital, Massachusetts General Hospital [Boston], Department of Neurobiology, Care Sciences and Society [Stockholm, Sweden] (Division of Family Medicine), Dalarna University, Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, Department of Biostatistics, University of Washington [Seattle], Emory University School of Medicine, Emory University [Atlanta, GA], The University of Texas Medical School at Houston, Department of Molecular and Functional Genomics, Geisinger, Danville, PA, Brigham and Women's Hospital [Boston], Harvard Medical School [Boston] (HMS), Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY, Novartis Institutes for BioMedical Research (NIBR), University of Liverpool, Universität Heidelberg [Heidelberg], Medizinische Fakultät Mannheim, The Alan Turing Institute, Ninewells Hospital and Medical School [Dundee], Universität Greifswald - University of Greifswald, German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), University of Minnesota System, Regeneron Pharmaceuticals [Tarrytown], Department of Clinical Sciences, Cardiovascular Epidemiology, Skane University Hospital [Lund], Institute of Genomics [Tartu, Estonia], University of Tartu, Robertson Centre for Biostatistics, University of Glasgow, Department of Epidemiology, Erasmus University Medical Center, Rotterdam, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Uppsala University, Brigham & Women’s Hospital [Boston] (BWH), University of Maryland School of Medicine, University of Maryland System, School of Science and Engineering (Reykjavik University), Carver College of Medicine, University of Iowa, Geisinger Health System [Danville, PA, USA], Durrer Center for Cardiogenetic Research, ICIN-Netherlands Heart Institute, Utrecht, Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University, Stanford Cardiovascular Institute, Uppsala Universitet [Uppsala], Leiden University Medical Center (LUMC), Einthoven Laboratory for Experimental Vascular Medicine (ELEVM - LEIDEN), Department of Public Health and Primary Care, University of Cambridge [UK] (CAM), Rigshospitalet [Copenhagen], Copenhagen University Hospital, Glenfield Hospital, University Hospitals Leicester, MRC Epidemiology Unit, University of Cambridge [UK] (CAM)-Institute of Metabolic Science, Big Data Institute, University of Oxford [Oxford], University of Iowa [Iowa City], The Wellcome Trust Centre for Human Genetics [Oxford], Synlab Academy, Synlab Holding Deutschland GmbH, Mannheim, Medical University Graz, Skane University Hospital [Malmo], Vanderbilt University School of Medicine [Nashville], University of Edinburgh, Université médicale de Vienne, Autriche, National Institute for Health and Welfare [Helsinki], University of Turku, Birmingham Women's and Children's NHS Foundation Trust, Kaiser Permanente, Harbor UCLA Medical Center [Torrance, Ca.], Los Angeles Biomedical Research Institute (LA BioMed), University Medical Center [Utrecht], University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), Seattle Epidemiologic Research and Information Center [Seattle], Institute of Cardiovascular and Medical Sciences [Glasgow], University of Glasgow, Department of Cardiology, Södersjukhuset, Stockholm, Estonian Genome and Medicine, Landspitali National University Hospital of Iceland, University of Iceland [Reykjavik], Aalborg University [Denmark] (AAU), Institut de Recherches SERVIER (IRS), Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-Universität Greifswald, GlaxoSmithKline, Glaxo Smith Kline, Northeastern Ohio Medical University (NEOMED), Centre d'investigation clinique plurithématique Pierre Drouin [Nancy] (CIC-P), Centre d'investigation clinique [Nancy] (CIC), Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Cardiovascular and Renal Clinical Trialists [Vandoeuvre-les-Nancy] (INI-CRCT), Institut Lorrain du Coeur et des Vaisseaux Louis Mathieu [Nancy], French-Clinical Research Infrastructure Network - F-CRIN [Paris] (Cardiovascular & Renal Clinical Trialists - CRCT ), MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke's Hospital, British Heart Foundation Glasgow Cardiovascular Research Centre (BHF GCRC), University of Glasgow-NHS Greater Glasgow and Clyde, Department of Cardiovascular Sciences [Leicester], University of Leicester, Queensland Brain Institute, Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, University of Dundee, National Heart and Lung Institute [London] (NHLI), Imperial College London-Royal Brompton and Harefield NHS Foundation Trust, Atherosclerosis Risk in Communities Study (ARIC)The Atherosclerosis Risk in Communities Study is carried out as a collaborative study supported by National Heart, Lung, and Blood Institute contracts N01-HC-55015, N01-HC- 55016, N01-HC-55018, N01-HC-55019, N01-HC-55020, N01-HC55021, N01-HC-55022, R01HL087641, R01HL59367, R01HL086694 and RC2 HL102419, National Human Genome Research Institute contract U01HG004402, and National Institutes of Health contract HHSN268200625226C. The authors thank the staff and participants of the ARIC study for their important contributions. Infrastructure was partly supported by Grant Number UL1RR025005, a component of the National Institutes of Health and NIH Roadmap for Medical Research. A systems BIOlogy Study to TAilored Treatment in Chronic Heart Failure (BIOSTAT- CHF)This project was funded by a grant from the European Commission (FP7‐242209‐ BIOSTAT‐CHF, EudraCT 2010–020808–29). Cardiovascular Health Study (CHS) This CHS research was supported by NHLBI contracts HHSN268201200036C, HHSN268200800007C, HHSN268201800001C, HHSN268200960009C, N01HC55222, N01HC85079, N01HC85080, N01HC85081, N01HC85082, N01HC85083, N01HC85086, and NHLBI grants U01HL080295, R01HL087652, R01HL105756, R01HL103612, R01HL120393, and U01HL130114 with additional contribution from the National Institute of Neurological Disorders and Stroke (NINDS). Additional support was provided through R01AG023629 from the National Institute on Aging (NIA). A full list of principal CHS investigators and institutions can be found at CHS-NHLBI.org. The provision of genotyping data was supported in part by the National Center for Advancing Translational Sciences, CTSI grant UL1TR001881, and the National Institute of Diabetes and Digestive and Kidney Disease Diabetes Research Center (DRC) grant DK063491 to the Southern California Diabetes Endocrinology Research Center. deCODE Heart Failure Study (deCODE) We at deCODE thank the women and men of Iceland that have participated in our studies and our colleagues that contributed to data collection and processing. DiscovEHR We acknowledge and thank all participants in Geisinger’s MyCode Community Health Initiative for their support and permission to use their health and genomic information in the DiscovEHR collaboration. This work was supported by the Regeneron Genetics Center and Geisinger. Estonian Genome Center at the University of Tartu (EGCUT) This study was supported by Estonian Research Council Grant IUT20-60, EU, H2020 grant 692145, European Union through the European Regional Development Fund (Project No. 2014-2020.4.01.15-0012) GENTRANSMED. Eplerenone Post-Acute Myocardial Infarction Heart Failure Efficacy and Survival Study (EPHESUS) The EPHESUS was supported by Pfizer, Inc. The European Prospective Investigation of Cancer, Norfolk study (EPIC-Norfolk) The EPIC-Norfolk Study is supported by programme grants from the Medical Research Council UK (G1000143) and Cancer Research UK (C864/A14136) and with additional support from the European Union, Stroke Association, British Heart Foundation, Research into Ageing, Department of Health, The Wellcome Trust and the Food Standards Agency. NJW and CL also acknowledge support from the Medical Research Council, UK (MC_UU_12015/1, MC_PC_13048). We thank all EPIC participants and staff for their contribution to the study, and thank staff from the Technical, Field Epidemiology and Data Functional Group Teams of the Medical Research Council Epidemiology Unit in Cambridge, UK, for carrying out sample preparation, DNA provision and quality control, genotyping and data handling work. Framingham Heart Study (FHS) This work was conducted using data and resources from the Framingham Heart Study (FHS) of the National Heart Lung and Blood Institute and Boston University School of Medicine. The study was supported by the National Heart, Lung and Blood Institute’s Framingham Heart Study (Contract No. N01-HC-25195 and HHSN268201500001I) and its contract with Affymetrix, Inc for genotyping services (Contract No.N02-HL-6-4278). The work was also supported by R01 HL093328, R01 HL105993, and R01 HL71039 (PI: Ramachandran). FINRISK V.S. has been supported by the Finnish Foundation for Cardiovascular Research. Genetics of Diabetes Audit and Research Tayside Scotland GoDARTS) The Wellcome Trust United Kingdom Type 2 Diabetes Case Control Collection (supporting GoDARTS) was funded by the Wellcome Trust (072960/Z/03/Z, 084726/Z/08/Z, 084727/Z/08/Z, 085475/Z/08/Z, 085475/B/08/Z) and as part of the EU IMI-SUMMIT programme. We acknowledge the support of the Health Informatics Centre, University of Dundee, for managing and supplying the anonymized data and NHS Tayside, the original data owner. The Genetic Risk Assessment of Defibrillator Events (GRADE) NIH-NHLBI R01 HL77398 (Genetic Modulators of Sudden Death). S.L. is supported by NIH grant 1R01HL139731 and American Heart Association 18SFRN34250007. The LUdwigshafen RIsk and Cardiovascular Health (LURIC) study We extend our appreciation to the participants of the LURIC study, without their collaboration, this article would not have been written. We thank the LURIC study team who were either temporarily or permanently involved in patient recruitment as well as sample and data handling, in addition to the laboratory staff at the Ludwigshafen General Hospital and the Universities of Freiburg and Ulm, Germany. LURIC has received funding from the 7th Framework Program (RiskyCAD, grant agreement number 305739 and Atheroremo, grant agreement number 201668) of the European Union. Malmö Diet and Cancer Study (MDCS) J. Gustav Smith was supported by grants from the Swedish Heart-Lung Foundation (2016- 0134 and 2016-0315), the Swedish Research Council (2017-02554), the European Research Council (ERC-STG-2015-679242), the Crafoord Foundation, Skåne University Hospital, the Scania county, governmental funding of clinical research within the Swedish National Health Service, a generous donation from the Knut and Alice Wallenberg foundation to the Wallenberg Center for Molecular Medicine in Lund, and funding from the Swedish Research Council (Linnaeus grant Dnr 349-2006-237, Strategic Research Area Exodiab Dnr 2009-1039) and Swedish Foundation for Strategic Research (Dnr IRC15- 0067) to the Lund University Diabetes Center. The Malmo Diet and Cancer Study was made possible by grants from the Swedish Cancer Society, the Swedish Medical Research Council, the Swedish Dairy Association, and the Malmo city council. Penn Heart Failure Study (PHFS) The study was supported by NIH grants (NIH R01L088577 and NIH R01H105993). Prevention of REnal and Vascular ENd-stage Disease (PREVEND) The Prevention of Renal and Vascular Endstage Disease Study (PREVEND) genetics is supported by the Dutch Kidney Foundation (Grant E033), the EU project grant GENECURE (FP-6 LSHM CT 2006 037697), the National Institutes of Health (grant LM010098), the Netherlands organisation for health research and development (NWO VENI grant 916.761.70), and the Dutch Inter University Cardiology Institute Netherlands (ICIN). Niek Verweij was supported by NWO VENI grant 016.186.125. PROspective Study of Pravastatin in the Elderly at Risk for vascular disease (PROSPER)The PROSPER study was supported by an investigator-initiated grant obtained from Bristol- Myers Squibb. Support for genotyping was provided by the seventh framework program of the European commission (grant 223004) and by the Netherlands Genomics Initiative (Netherlands Consortium for Healthy Aging grant 050-060-810). J.W.J. is an Established Clinical Investigator of the Netherlands Heart Foundation (grant 2001 D 032). Study of Health in Pomerania (SHIP) SHIP is part of the Community Medicine Research net of the University of Greifswald, Germany, which is funded by the Federal Ministry of Education and Research (grants no. 01ZZ9603, 01ZZ0103, and 01ZZ0403), the Ministry of Cultural Affairs as well as the Social Ministry of the Federal State of Mecklenburg-West Pomerania, and the network ‘Greifswald Approach to Individualized Medicine (GANI_MED)’ funded by the Federal Ministry of Education and Research (grant 03IS2061A). Genome-wide data have been supported by the Federal Ministry of Education and Research (grant no. 03ZIK012) and a joint grant from Siemens Healthineers, Erlangen, Germany and the Federal State of Mecklenburg- West Pomerania. The University of Greifswald is a member of the Caché Campus program of the InterSystems GmbH. Stabilization of Plaque using Darapladib-Thrombolysis in Myocardial Infarction 52 (SOLID)SOLID-TIMI 52 was funded by GlaxoSmithKline. TwinGene (TwinGene) TwinGene received funding from the Swedish Research Council (M-2005-1112), GenomEUtwin (EU/QLRT-2001-01254, QLG2-CT-2002-01254), NIH DK U01-066134, The Swedish Foundation for Strategic Research (SSF) and the Heart and Lung foundation no. 20070481. TwinGene is part of the Swedish Twin Registry which is managed by Karolinska Institutet and receives funding through the Swedish Research Council (2017–00641). UK Biobank (UKBiobank) This research has been conducted using the UK Biobank Resource under Application Number 15422. This work was supported in part by grants to R.T.L. from the EU/EFPIA Innovative Medicines Initiative 2 Joint Undertaking BigData@Heart grant no. 116074, MRC Proximity to Discovery Award Scheme, the American Heart Association Institute for Precision Mecidine, Pfizer Ltd, the University College London British Heart Foundation Research Accelerator (AA/18/6/34223), and was supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. A. H. is supported by the British Heart Foundation Cardiovascular Biomedicine PhD studentship. R.T.L is supported by a UK Research and Innovation Rutherford Fellowship and was previously supported by a National Institutes of Health Research Clinical Lectureship. Uppsala Longitudinal Study of Adult Men (ULSAM) J.Ä. is supported by the Swedish Research Council and the Swedish Heart Lung foundation. C.M.L is supported by the Li Ka Shing Foundation, WT-SSI/John Fell funds and by the NIHR Biomedical Research Centre, Oxford, by Widenlife and NIH (5P50HD028138- 27). Women’s Genome Health Study (WGHS) The WGHS is supported by the National Heart, Lung, and Blood Institute (HL043851 and HL080467, HL099355) and the National Cancer Institute (CA047988 and UM1CA182913), with collaborative scientific support and funding for genotyping provided by Amgen., Epidemiology, Internal Medicine, Læknadeild (HÍ), Faculty of Medicine (UI), Verkfræði- og náttúruvísindasvið (HÍ), School of Engineering and Natural Sciences (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, and University of Iceland
Subjects: 0301 basic medicine, Dánartíðni, Epidemiology, LOCI, 45/43, General Physics and Astronomy, Muscle Proteins, Genome-wide association study, Disease, Coronary Artery Disease, 030204 cardiovascular system & hematology, Bioinformatics, Genome-wide association studies, DISEASE, Ventricular Function, Left, Coronary artery disease, 0302 clinical medicine, Risk Factors, Atrial Fibrillation, IMPUTATION, Medicine, Blóðrásarsjúkdómar, 692/308/174, lcsh:Science, 2. Zero hunger, RISK, Multidisciplinary, Microfilament Proteins, article, Atrial fibrillation, Mendelian Randomization Analysis, CATALOG, 3. Good health, OBESITY, Erfðarannsóknir, Cardiomyopathies, Medical Genetics, Cyclin-Dependent Kinase Inhibitor p21, Science, 631/208/205/2138, Heart failure, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 631/443/592/2727, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, RESOURCE, Humans, Mortality, METAANALYSIS, Genetic association, Medicinsk genetik, Adaptor Proteins, Signal Transducing, Heart Failure, HYPERTENSION, business.industry, Case-control study, Klinisk medicin, 692/699/75/230, General Chemistry, Cardiovascular genetics, medicine.disease, R1, 030104 developmental biology, Case-Control Studies, lcsh:Q, Morbidity, Clinical Medicine, business, Apoptosis Regulatory Proteins, Carrier Proteins, Genome-Wide Association Study
Abstract: Publisher's version (útgefin grein), Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies., We acknowledge the contribution from the EchoGen Consortium.
Published: 2020
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31. Fluorogenic substrates for high-throughput measurements of endothelial lipase activity

Author: Mitnaul, Lyndon J., Tian, Jenny, Burton, Charlotte, Lam, My-Hanh, Zhu, Yuping, Olson, Steve H., Schneeweis, Jonathan E., Zuck, Paul, Pandit, Shilpa, Anderson, Matt, Maletic, Milana M., Waddell, Sherman T., Wright, Samuel D., Sparrow, Carl P., and Lund, Erik G.
Published: 2007
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32. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

Author: Gorski, Mathias, primary, Jung, Bettina, additional, Li, Yong, additional, Matias-Garcia, Pamela R., additional, Wuttke, Matthias, additional, Coassin, Stefan, additional, Thio, Chris H.L., additional, Kleber, Marcus E., additional, Winkler, Thomas W., additional, Wanner, Veronika, additional, Chai, Jin-Fang, additional, Chu, Audrey Y., additional, Cocca, Massimiliano, additional, Feitosa, Mary F., additional, Ghasemi, Sahar, additional, Hoppmann, Anselm, additional, Horn, Katrin, additional, Li, Man, additional, Nutile, Teresa, additional, Scholz, Markus, additional, Sieber, Karsten B., additional, Teumer, Alexander, additional, Tin, Adrienne, additional, Wang, Judy, additional, Tayo, Bamidele O., additional, Ahluwalia, Tarunveer S., additional, Almgren, Peter, additional, Bakker, Stephan J.L., additional, Banas, Bernhard, additional, Bansal, Nisha, additional, Biggs, Mary L., additional, Boerwinkle, Eric, additional, Bottinger, Erwin P., additional, Brenner, Hermann, additional, Carroll, Robert J., additional, Chalmers, John, additional, Chee, Miao-Li, additional, Chee, Miao-Ling, additional, Cheng, Ching-Yu, additional, Coresh, Josef, additional, de Borst, Martin H., additional, Degenhardt, Frauke, additional, Eckardt, Kai-Uwe, additional, Endlich, Karlhans, additional, Franke, Andre, additional, Freitag-Wolf, Sandra, additional, Gampawar, Piyush, additional, Gansevoort, Ron T., additional, Ghanbari, Mohsen, additional, Gieger, Christian, additional, Hamet, Pavel, additional, Ho, Kevin, additional, Hofer, Edith, additional, Holleczek, Bernd, additional, Xian Foo, Valencia Hui, additional, Hutri-Kähönen, Nina, additional, Hwang, Shih-Jen, additional, Ikram, M. Arfan, additional, Josyula, Navya Shilpa, additional, Kähönen, Mika, additional, Khor, Chiea-Chuen, additional, Koenig, Wolfgang, additional, Kramer, Holly, additional, Krämer, Bernhard K., additional, Kühnel, Brigitte, additional, Lange, Leslie A., additional, Lehtimäki, Terho, additional, Lieb, Wolfgang, additional, Loos, Ruth J.F., additional, Lukas, Mary Ann, additional, Lyytikäinen, Leo-Pekka, additional, Meisinger, Christa, additional, Meitinger, Thomas, additional, Melander, Olle, additional, Milaneschi, Yuri, additional, Mishra, Pashupati P., additional, Mononen, Nina, additional, Mychaleckyj, Josyf C., additional, Nadkarni, Girish N., additional, Nauck, Matthias, additional, Nikus, Kjell, additional, Ning, Boting, additional, Nolte, Ilja M., additional, O’Donoghue, Michelle L., additional, Orho-Melander, Marju, additional, Pendergrass, Sarah A., additional, Penninx, Brenda W.J.H., additional, Preuss, Michael H., additional, Psaty, Bruce M., additional, Raffield, Laura M., additional, Raitakari, Olli T., additional, Rettig, Rainer, additional, Rheinberger, Myriam, additional, Rice, Kenneth M., additional, Rosenkranz, Alexander R., additional, Rossing, Peter, additional, Rotter, Jerome I., additional, Sabanayagam, Charumathi, additional, Schmidt, Helena, additional, Schmidt, Reinhold, additional, Schöttker, Ben, additional, Schulz, Christina-Alexandra, additional, Sedaghat, Sanaz, additional, Shaffer, Christian M., additional, Strauch, Konstantin, additional, Szymczak, Silke, additional, Taylor, Kent D., additional, Tremblay, Johanne, additional, Chaker, Layal, additional, van der Harst, Pim, additional, van der Most, Peter J., additional, Verweij, Niek, additional, Völker, Uwe, additional, Waldenberger, Melanie, additional, Wallentin, Lars, additional, Waterworth, Dawn M., additional, White, Harvey D., additional, Wilson, James G., additional, Wong, Tien-Yin, additional, Woodward, Mark, additional, Yang, Qiong, additional, Yasuda, Masayuki, additional, Yerges-Armstrong, Laura M., additional, Zhang, Yan, additional, Snieder, Harold, additional, Wanner, Christoph, additional, Böger, Carsten A., additional, Köttgen, Anna, additional, Kronenberg, Florian, additional, Pattaro, Cristian, additional, Heid, Iris M., additional, Alizadeh, Behrooz Z., additional, Boezen, H. Marike, additional, Franke, Lude, additional, Navis, Gerjan, additional, Rots, Marianne, additional, Swertz, Morris, additional, Wolffenbuttel, Bruce H.R., additional, Wijmenga, Cisca, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Toledo, Karina, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Barnard, Leland, additional, Blumenfeld, Andrew, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Maxwell, Evan K., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Jones, Marcus B., additional, and Mitnaul, Lyndon J., additional
Published: 2021
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33. Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals

Author: Kember, Rachel L., primary, Merikangas, Alison K., additional, Verma, Shefali S., additional, Verma, Anurag, additional, Judy, Renae, additional, Damrauer, Scott M., additional, Ritchie, Marylyn D., additional, Rader, Daniel J., additional, Bućan, Maja, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca, additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Toledo, Karina, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Barnard, Leland, additional, Blumenfeld, Andrew, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hahn, Young, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Maxwell, Evan K., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Yadav, Ashish, additional, Jones, Marcus B., additional, and Mitnaul, Lyndon J., additional
Published: 2021
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34. Different roles of liver X receptor α and β in lipid metabolism: Effects of an α-selective and a dual agonist in mice deficient in each subtype

Author: Lund, Erik G., Peterson, Laurence B., Adams, Alan D., Lam, My-Hanh N., Burton, Charlotte A., Chin, Jayne, Guo, Qiu, Huang, Shaei, Latham, Melanie, Lopez, Jacqueline C., Menke, John G., Milot, Denise P., Mitnaul, Lyndon J., Rex-Rabe, Sandra E., Rosa, Raymond L., Tian, Jenny Y., Wright, Samuel D., and Sparrow, Carl P.
Published: 2006
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35. Increased hypercholesterolemia and atherosclerosis in mice lacking both ApoE and leptin receptor

Author: Wu, Kenneth K., Wu, Tsuei-Ju, Chin, Jayne, Mitnaul, Lyndon J., Hernandez, Melba, Cai, Tian-Quan, Ren, Ning, Waters, M. Gerard, Wright, Samuel D., and Cheng, Kang
Published: 2005
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36. Thrombotic risk determined by rare and common SERPINA1variants in a population‐based cohort study

Author: Manderstedt, Eric, Halldén, Christer, Lind‐Halldén, Christina, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Schleicher, Thomas D., Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mighty, Jason, and Mitnaul, Lyndon J.
Abstract: Severe alpha‐1‐antitrypsin deficiency (AATD), phenotype PiZZ, was associated with venous thromboembolism (VTE) in a case‐control study.
Published: 2022
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37. Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581]

Author: Siminovitch, Katherine A., Hirschfield, Gideon M., Mason, Andrew, Vincent, Catherine, Xie, Gang, Zhang, Jinyi, Tang, Ruqi, Ma, Xiong, Li, Zhiqiang, Shi, Yongyong, Affronti, Andrea, Almasio, Piero L., Alvaro, Domenico, Andreone, Pietro, Andriulli, Angelo, Azzaroli, Francesco, Battezzati, Pier Maria, Benedetti, Antonio, Bragazzi, Maria Consiglia, Brunetto, Maurizia, Bruno, Savino, Calvaruso, Vincenza, Cardinale, Vincenzo, Casella, Giovanni, Cazzagon, Nora, Ciaccio, Antonio, Coco, Barbara, Colli, Agostino, Colloredo, Guido, Colombo, Massimo, Colombo, Silvia, Cristoferi, Laura, Cursaro, Carmela, Crocè, Lory Saveria, Crosignani, Andrea, D’Amato, Daphne, Donato, Francesca, Elia, Gianfranco, Fabris, Luca, Fagiuoli, Stefano, Ferrari, Carlo, Floreani, Annarosa, Galli, Andrea, Giannini, Edoardo, Grattagliano, Ignazio, Lampertico, Pietro, Lleo, Ana, Malinverno, Federica, Mancuso, Clara, Marra, Fabio, Marzioni, Marco, Massironi, Sara, Mattalia, Alberto, Miele, Luca, Milani, Chiara, Morini, Lorenzo, Morisco, Filomena, Muratori, Luigi, Muratori, Paolo, Niro, Grazia A., O’Donnell, Sarah, Picciotto, Antonio, Portincasa, Piero, Rigamonti, Cristina, Ronca, Vincenzo, Rosina, Floriano, Spinzi, Giancarlo, Strazzabosco, Mario, Tarocchi, Mirko, Tiribelli, Claudio, Toniutto, Pierluigi, Valenti, Luca, Vinci, Maria, Zuin, Massimo, Nakamura, Hitomi, Abiru, Seigo, Nagaoka, Shinya, Komori, Atsumasa, Yatsuhashi, Hiroshi, Ishibashi, Hiromi, Ito, Masahiro, Migita, Kiyoshi, Ohira, Hiromasa, Katsushima, Shinji, Naganuma, Atsushi, Sugi, Kazuhiro, Komatsu, Tatsuji, Mannami, Tomohiko, Matsushita, Kouki, Yoshizawa, Kaname, Makita, Fujio, Nikami, Toshiki, Nishimura, Hideo, Kouno, Hiroshi, Kouno, Hirotaka, Ota, Hajime, Komura, Takuya, Nakamura, Yoko, Shimada, Masaaki, Hirashima, Noboru, Komeda, Toshiki, Ario, Keisuke, Nakamuta, Makoto, Yamashita, Tsutomu, Furuta, Kiyoshi, Kikuchi, Masahiro, Naeshiro, Noriaki, Takahashi, Hironao, Mano, Yutaka, Tsunematsu, Seiji, Yabuuchi, Iwao, Shimada, Yusuke, Yamauchi, Kazuhiko, Sugimoto, Rie, Sakai, Hironori, Mita, Eiji, Koda, Masaharu, Tsuruta, Satoru, Kamitsukasa, Hiroshi, Sato, Takeaki, Masaki, Naohiko, Kobata, Tatsuro, Fukushima, Nobuyoshi, Ohara, Yukio, Muro, Toyokichi, Takesaki, Eiichi, Takaki, Hitoshi, Yamamoto, Tetsuo, Kato, Michio, Nagaoki, Yuko, Hayashi, Shigeki, Ishida, Jinya, Watanabe, Yukio, Kobayashi, Masakazu, Koga, Michiaki, Saoshiro, Takeo, Yagura, Michiyasu, Hirata, Keisuke, Tanaka, Atsushu, Takikawa, Hajime, Zeniya, Mikio, Abe, Masanori, Onji, Morikazu, Kaneko, Shuichi, Honda, Masao, Arai, Kuniaki, Arinaga-Hino, Teruko, Hashimoto, Etsuko, Taniai, Makiko, Umemura, Takeji, Joshita, Satoru, Nakao, Kazuhiko, Ichikawa, Tatsuki, Shibata, Hidetaka, Yamagiwa, Satoshi, Seike, Masataka, Honda, Koichi, Sakisaka, Shotaro, Takeyama, Yasuaki, Harada, Masaru, Senju, Michio, Yokosuka, Osamu, Kanda, Tatsuo, Ueno, Yoshiyuki, Kikuchi, Kentaro, Ebinuma, Hirotoshi, Himoto, Takashi, Yasunami, Michio, Murata, Kazumoto, Mizokami, Masashi, Kawata, Kazuhito, Shimoda, Shinji, Miyake, Yasuhiro, Takaki, Akinobu, Yamamoto, Kazuhide, Hirano, Katsuji, Ichida, Takafumi, Ido, Akio, Tsubouchi, Hirohito, Chayama, Kazuaki, Harada, Kenichi, Nakanuma, Yasuni, Maehara, Yoshihiko, Taketomi, Akinobu, Shirabe, Ken, Soejima, Yuji, Mori, Akira, Yagi, Shintaro, Uemoto, Shinji, H, Egawa, Tanaka, Tomohiro, Yamashiki, Noriyo, Tamura, Sumito, Sugawara, Yasuhiro, Kokudo, Norihiro, Juran, Brian D., Atkinson, Elizabeth J., Cheung, Angela, de Andrade, Mariza, Lazaridis, Konstantinos N., Chalasani, Naga, Luketic, Vel, Odin, Joseph, Chopra, Kapil, Baras, Aris, Horowitz, Julie, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mitnaul, Lyndon J., Sturgess, Richard, Healey, Christopher, Yeoman, Andrew, Gunasekera, Anton V.J., Kooner, Paul, Kapur, Kapil, Sathyanarayana, V., Kallis, Yiannis, Subhani, Javaid, Harvey, Rory, McCorry, Roger, Rooney, Paul, Ramanaden, David, Evans, Richard, Mathialahan, Thiriloganathan, Gasem, Jaber, Shorrock, Christopher, Bhalme, Mahesh, Southern, Paul, Tibble, Jeremy A., Gorard, David A., Jones, Susan, Mells, George, Mulcahy, Victoria, Srivastava, Brijesh, Foxton, Matthew R., Collins, Carole E., Elphick, David, Karmo, Mazn, Porras-Perez, Francisco, Mendall, Michael, Yapp, Tom, Patel, Minesh, Ede, Roland, Sayer, Joanne, Jupp, James, Fisher, Neil, Carter, Martyn J., Koss, Konrad, Shah, Jayshri, Piotrowicz, Andrzej, Scott, Glyn, Grimley, Charles, Gooding, Ian R., Williams, Simon, Tidbury, Judith, Lim, Guan, Cheent, Kuldeep, Levi, Sass, Mansour, Dina, Beckley, Matilda, Hollywood, Coral, Wong, Terry, Marley, Richard, Ramage, John, Gordon, Harriet M., Ridpath, Jo, Ngatchu, Theodore, Bob Grover, Vijay Paul, Shidrawi, Ray G., Abouda, George, Corless, L., Narain, Mark, Rees, Ian, Brown, Ashley, Taylor-Robinson, Simon, Wilkins, Joy, Grellier, Leonie, Banim, Paul, Das, Debasish, Heneghan, Michael A., Curtis, Howard, Matthews, Helen C., Mohammed, Faiyaz, Aldersley, Mark, Srirajaskanthan, Raj, Walker, Giles, McNair, Alistair, Sharif, Amar, Sen, Sambit, Bird, George, Prince, Martin I., Prasad, Geeta, Kitchen, Paul, Barnardo, Adrian, Oza, Chirag, Sivaramakrishnan, Nurani N., Gupta, Prakash, Shah, Amir, Evans, Chris D.J., Saha, Subrata, Pollock, Katharine, Bramley, Peter, Mukhopadhya, Ashis, Barclay, Stephen T., McDonald, Natasha, Bathgate, Andrew J., Palmer, Kelvin, Dillon, John F., Rushbrook, Simon M., Przemioslo, Robert, McDonald, Chris, Millar, Andrew, Tai, Cheh, Mitchell, Stephen, Metcalf, Jane, Shaukat, Syed, Ninkovic, Mary, Shmueli, Udi, Davis, Andrew, Naqvi, Asifabbas, Lee, Tom J.W., Ryder, Stephen, Collier, Jane, Klass, Howard, Cramp, Matthew E., Sharer, Nichols, Aspinall, Richard, Ghosh, Deb, Douds, Andrew C., Booth, Jonathan, Williams, Earl, Hussaini, Hyder, Christie, John, Mann, Steven, Thorburn, Douglas, Marshall, Aileen, Patanwala, Imran, Ala, Aftab, Maltby, Julia, Matthew, Ray, Corbett, Chris, Vyas, Sam, Singhal, Saket, Gleeson, Dermot, Misra, Sharat, Butterworth, Jeff, George, Keith, Harding, Tim, Douglass, Andrew, Mitchison, Harriet, Panter, Simon, Shearman, Jeremy, Bray, Gary, Roberts, Michael, Butcher, Graham, Forton, Daniel, Mahmood, Zahid, Cowan, Matthew, Das, Debashis, Ch'ng, Chin Lye, Rahman, Mesbah, Whatley, Gregory C.A., Wesley, Emma, Mandal, Aditya, Jain, Sanjiv, Pereira, Stephen P., Wright, Mark, Trivedi, Palak, Gordon, Fiona H., Unitt, Esther, Palejwala, Altaf, Austin, Andrew, Vemala, Vishwaraj, Grant, Allister, Higham, Andrew D., Brind, Alison, Mathew, Ray, Cox, Mark, Ramakrishnan, Subramaniam, King, Alistair, Whalley, Simon, Fraser, Jocelyn, Thomson, S.J., Bell, Andrew, Wong, Voi Shim, Kia, Richard, Gee, Ian, Keld, Richard, Ransford, Rupert, Gotto, James, Millson, Charles, Cordell, Heather J., Fryett, James J., Ueno, Kazuko, Darlay, Rebecca, Aiba, Yoshihiro, Hitomi, Yuki, Kawashima, Minae, Nishida, Nao, Khor, Seik-Soon, Gervais, Olivier, Kawai, Yosuke, Nagasaki, Masao, Tokunaga, Katsushi, Gerussi, Alessio, Carbone, Marco, Asselta, Rosanna, Ferreira, Manuel A.R., Sun, Dylan, Jones, David E., Flack, Steven, Spicer, Ann, Mulcahy, Victoria L., Byun, Jinyoung, Han, Younghun, Sandford, Richard N., Amos, Christopher I., Seldin, Michael F., Invernizzi, Pietro, Nakamura, Minoru, and Mells, George F.
Published: 2022
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38. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Author: Dewey, Frederick E., primary, Murray, Michael F., additional, Overton, John D., additional, Habegger, Lukas, additional, Leader, Joseph B., additional, Fetterolf, Samantha N., additional, O’Dushlaine, Colm, additional, Van Hout, Cristopher V., additional, Staples, Jeffrey, additional, Gonzaga-Jauregui, Claudia, additional, Metpally, Raghu, additional, Pendergrass, Sarah A., additional, Giovanni, Monica A., additional, Kirchner, H. Lester, additional, Balasubramanian, Suganthi, additional, Abul-Husn, Noura S., additional, Hartzel, Dustin N., additional, Lavage, Daniel R., additional, Kost, Korey A., additional, Packer, Jonathan S., additional, Lopez, Alexander E., additional, Penn, John, additional, Mukherjee, Semanti, additional, Gosalia, Nehal, additional, Kanagaraj, Manoj, additional, Li, Alexander H., additional, Mitnaul, Lyndon J., additional, Adams, Lance J., additional, Person, Thomas N., additional, Praveen, Kavita, additional, Marcketta, Anthony, additional, Lebo, Matthew S., additional, Austin-Tse, Christina A., additional, Mason-Suares, Heather M., additional, Bruse, Shannon, additional, Mellis, Scott, additional, Phillips, Robert, additional, Stahl, Neil, additional, Murphy, Andrew, additional, Economides, Aris, additional, Skelding, Kimberly A., additional, Still, Christopher D., additional, Elmore, James R., additional, Borecki, Ingrid B., additional, Yancopoulos, George D., additional, Davis, F. Daniel, additional, Faucett, William A., additional, Gottesman, Omri, additional, Ritchie, Marylyn D., additional, Shuldiner, Alan R., additional, Reid, Jeffrey G., additional, Ledbetter, David H., additional, Baras, Aris, additional, and Carey, David J., additional
Published: 2016
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39. The Impact of Partial and Complete Loss-of-Function Mutations in Endothelial Lipase on High-Density Lipoprotein Levels and Functionality in Humans

Author: Singaraja, Roshni R., primary, Sivapalaratnam, Suthesh, additional, Hovingh, Kees, additional, Dubé, Marie-Pierre, additional, Castro-Perez, José, additional, Collins, Heidi L., additional, Adelman, Steven J., additional, Riwanto, Meliana, additional, Manz, Jasmin, additional, Hubbard, Brian, additional, Tietjen, Ian, additional, Wong, Kenny, additional, Mitnaul, Lyndon J., additional, van Heek, Margaret, additional, Lin, Linus, additional, Roddy, Thomas A., additional, McEwen, Jason, additional, Dallinge-Thie, Geesje, additional, van Vark-van der Zee, Leonie, additional, Verwoert, Germaine, additional, Winther, Michael, additional, van Duijn, Cornelia, additional, Hofman, Albert, additional, Trip, Mieke D., additional, Marais, A. David, additional, Asztalos, Bela, additional, Landmesser, Ulf, additional, Sijbrands, Eric, additional, Kastelein, John J., additional, and Hayden, Michael R., additional
Published: 2013
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40. An Anti-PCSK9 Antibody Reduces LDL-Cholesterol On Top Of A Statin And Suppresses Hepatocyte SREBP-Regulated Genes

Author: Zhang, Liwen, primary, McCabe, Timothy, additional, Condra, Jon H., additional, Ni, Yan G., additional, Peterson, Laurence B., additional, Wang, Weirong, additional, Strack, Alison M., additional, Wang, Fubao, additional, Pandit, Shilpa, additional, Hammond, Holly, additional, Wood, Dana, additional, Lewis, Dale, additional, Rosa, Ray, additional, Mendoza, Vivienne, additional, Cumiskey, Anne Marie, additional, Johns, Douglas G., additional, Hansen, Barbara C., additional, Shen, Xun, additional, Geoghagen, Neil, additional, Jensen, Kristian, additional, Zhu, Lei, additional, Wietecha, Karol, additional, Wisniewski, Douglas, additional, Huang, Lingyi, additional, Zhao, Jing Zhang, additional, Ernst, Robin, additional, Hampton, Richard, additional, Haytko, Peter, additional, Ansbro, Frances, additional, Chilewski, Shannon, additional, Chin, Jayne, additional, Mitnaul, Lyndon J., additional, Pellacani, Andrea, additional, Sparrow, Carl P., additional, An, Zhiqiang, additional, Strohl, William, additional, Hubbard, Brian, additional, Plump, Andrew S., additional, Blom, Daniel, additional, and Sitlani, Ayesha, additional
Published: 2012
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41. Integrating siRNA and protein–protein interaction data to identify an expanded insulin signaling network

Author: Tu, Zhidong, primary, Argmann, Carmen, additional, Wong, Kenny K., additional, Mitnaul, Lyndon J., additional, Edwards, Stephen, additional, Sach, Iliana C., additional, Zhu, Jun, additional, and Schadt, Eric E., additional
Published: 2009
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42. Miniaturization of Cell-Based β-Lactamase-Dependent FRET Assays to Ultra-High Throughput Formats to Identify Agonists of Human Liver X Receptors

Author: Chin, Jayne, primary, Adams, Alan D., additional, Bouffard, Aileen, additional, Green, Ahren, additional, Lacson, Raul G., additional, Smith, Todd, additional, Fischer, Paul A., additional, Menke, John G., additional, Sparrow, Carl P., additional, and Mitnaul, Lyndon J., additional
Published: 2003
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43. A β-Lactamase-Dependent Gal4-Estrogen Receptor β Transactivation Assay for the Ultra-High Throughput Screening of Estrogen Receptor β Agonists in a 3,456-Well Format

Author: Peekhaus, Norbert T., primary, Ferrer, Marc, additional, Chang, Tina, additional, Kornienko, Oleg, additional, Schneeweis, Jonathan E., additional, Smith, Todd S., additional, Hoffman, Ira, additional, Mitnaul, Lyndon J., additional, Chin, Jayne, additional, Fischer, Paul A., additional, Blizzard, Tim A., additional, Birzin, Elizabeth T., additional, Chan, Wanda, additional, Inglese, James, additional, Strulovici, Berta, additional, Rohrer, Susan P., additional, and Schaeffer, James M., additional
Published: 2003
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44. Balanced Hemagglutinin and Neuraminidase Activities Are Critical for Efficient Replication of Influenza A Virus

Author: Mitnaul, Lyndon J., primary, Matrosovich, Mikhail N., additional, Castrucci, Maria R., additional, Tuzikov, Alexander B., additional, Bovin, Nikolai V., additional, Kobasa, Darwyn, additional, and Kawaoka, Yoshihiro, additional
Published: 2000
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45. A β-Lactamase-Dependent Gal4-Estrogen Receptor βTransactivation Assay for the Ultra-High Throughput Screening of Estrogen Receptor βAgonists in a 3,456-Well Format

Author: Peekhaus, Norbert T., Ferrer, Marc, Chang, Tina, Kornienko, Oleg, Schneeweis, Jonathan E., Smith, Todd S., Hoffman, Ira, Mitnaul, Lyndon J., Chin, Jayne, Fischer, Paul A., Blizzard, Tim A., Birzin, Elizabeth T., Chan, Wanda, Inglese, James, Strulovici, Berta, Rohrer, Susan P., and Schaeffer, James M.
Abstract: Estrogen action is mediated via two estrogen receptor (ER) subtypes, ERαand ERβ. Selective ER modulators with balanced high affinity for ERαand ERβhave been developed as therapeutics for the treatment of a variety of diseases, including hormone-responsive breast cancer and osteoporosis. Recent data based primarily on the evaluation of ER-knockout mice have revealed that ERαand ERβmay regulate separate and distinct biological processes. The identification of ERβspecific ligands could further enhance our understanding of ERβbiology. In addition, compounds targeting ERβmay prove useful as therapeutic agents with activity profiles distinguishable from that of estradiol. To discover novel selective ligands for ERβ, we developed and characterized a cell-based Gal4-ERββ-lactamase reporter gene assay (GERTA) in CHO cells for the ligand-induced activation of the human ERβ. The sensitivity and selectivity of this assay were found to be comparable to those of an ER ligand-binding assay. The assay was optimized for screening in an ultra high throughput 3,456-well nanoplate format and was successfully used to screen a large compound collection for ERβagonists. Compounds identified in a primary screen were tested in an in vitroligand-binding assay to characterize further the selectivity and potency for ERβ.
Published: 2003
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46. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Author: Shah, Sonia, Henry, Albert, Roselli, Carolina, Lin, Honghuang, Sveinbjörnsson, Garðar, Fatemifar, Ghazaleh, Hedman, Åsa K., Wilk, Jemma B., Morley, Michael P., Chaffin, Mark D., Helgadottir, Anna, Verweij, Niek, Dehghan, Abbas, Almgren, Peter, Andersson, Charlotte, Aragam, Krishna G., Ärnlöv, Johan, Backman, Joshua D., Biggs, Mary L., Bloom, Heather L., Brandimarto, Jeffrey, Brown, Michael R., Buckbinder, Leonard, Carey, David J., Chasman, Daniel I., Chen, Xing, Chen, Xu, Chung, Jonathan, Chutkow, William, Cook, James P., Delgado, Graciela E., Denaxas, Spiros, Doney, Alexander S., Dörr, Marcus, Dudley, Samuel C., Dunn, Michael E., Engström, Gunnar, Esko, Tõnu, Felix, Stephan B., Finan, Chris, Ford, Ian, Ghanbari, Mohsen, Ghasemi, Sahar, Giedraitis, Vilmantas, Giulianini, Franco, Gottdiener, John S., Gross, Stefan, Guðbjartsson, Daníel F., Gutmann, Rebecca, Haggerty, Christopher M., Van Der Harst, Pim, Hyde, Craig L., Ingelsson, Erik, Jukema, J. Wouter, Kavousi, Maryam, Khaw, Kay-Tee, Kleber, Marcus E., Køber, Lars, Koekemoer, Andrea, Langenberg, Claudia, Lind, Lars, Lindgren, Cecilia M., London, Barry, Lotta, Luca A., Lovering, Ruth C., Luan, Jian’an, Magnusson, Patrik, Mahajan, Anubha, Margulies, Kenneth B., März, Winfried, Melander, Olle, Mordi, Ify R., Morgan, Thomas, Morris, Andrew D., Morris, Andrew P., Morrison, Alanna C., Nagle, Michael W., Nelson, Christopher P., Niessner, Alexander, Niiranen, Teemu, O’Donoghue, Michelle L., Owens, Anjali T., Palmer, Colin N. A., Parry, Helen M., Perola, Markus, Portilla-Fernandez, Eliana, Psaty, Bruce M., Rice, Kenneth M., Ridker, Paul M., Romaine, Simon P. R., Rotter, Jerome I., Salo, Perttu, Salomaa, Veikko, Van Setten, Jessica, Shalaby, Alaa A., Smelser, Diane T., Smith, Nicholas L., Stender, Steen, Stott, David J., Svensson, Per, Tammesoo, Mari-Liis, Taylor, Kent D., Teder-Laving, Maris, Teumer, Alexander, Thorgeirsson, Guðmundur, Thorsteinsdottir, Unnur, Torp-Pedersen, Christian, Trompet, Stella, Tyl, Benoit, Uitterlinden, Andre G., Veluchamy, Abirami, Völker, Uwe, Voors, Adriaan A., Wang, Xiaosong, Wareham, Nicholas J., Waterworth, Dawn, Weeke, Peter E., Weiss, Raul, Wiggins, Kerri L., Xing, Heming, Yerges-Armstrong, Laura M., Yu, Bing, Zannad, Faiez, Zhao, Jing Hua, Hemingway, Harry, Samani, Nilesh J., McMurray, John J. V., Yang, Jian, Visscher, Peter M., Newton-Cheh, Christopher, Malarstig, Anders, Holm, Hilma, Lubitz, Steven A., Sattar, Naveed, Holmes, Michael V., Cappola, Thomas P., Asselbergs, Folkert W., Hingorani, Aroon D., Kuchenbaecker, Karoline, Ellinor, Patrick T., Lang, Chim C., Stefansson, Kari, Smith, J. Gustav, Vasan, Ramachandran S., Swerdlow, Daniel I., Lumbers, R. Thomas, Abecasis, Goncalo, Backman, Joshua, Bai, Xiaodong, Balasubramanian, Suganthi, Banerjee, Nilanjana, Baras, Aris, Barnard, Leland, Beechert, Christina, Blumenfeld, Andrew, Cantor, Michael, Chai, Yating, Coppola, Giovanni, Damask, Amy, Dewey, Frederick, Economides, Aris, Eom, Gisu, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Gurski, Lauren, Guzzardo, Paloma M., Habegger, Lukas, Hahn, Young, Hawes, Alicia, Van Hout, Cristopher, Jones, Marcus B., Khalid, Shareef, Lattari, Michael, Li, Alexander, Lin, Nan, Liu, Daren, Lopez, Alexander, Manoochehri, Kia, Marchini, Jonathan, Marcketta, Anthony, Maxwell, Evan K., McCarthy, Shane, Mitnaul, Lyndon J., O’Dushlaine, Colm, Overton, John D., Padilla, Maria Sotiropoulos, Paulding, Charles, Penn, John, Pradhan, Manasi, Reid, Jeffrey G., Schleicher, Thomas D., Schurmann, Claudia, Shuldiner, Alan, Staples, Jeffrey C., Sun, Dylan, Toledo, Karina, Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Yadav, Ashish, and Ye, Bin
Subjects: 2. Zero hunger, 631/443/592/2727, 631/208/205/2138, 692/699/75/230, 45/43, article, 692/308/174, 3. Good health
Abstract: Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.

47. Simple permeation absorber for sampling and preconcentrating hazardous air contaminants

Author: Zaromb, Solomon, primary, Woo, Ching S., additional, Quandt, Kimberly, additional, Rice, Lesa M., additional, Fermaint, Abel, additional, and Mitnaul, Lyndon J., additional
Published: 1988
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48. Miniaturization of cell-based beta-lactamase-dependent FRET assays to ultra-high throughput formats to identify agonists of human liver X receptors.

Author: Chin J, Adams AD, Bouffard A, Green A, Lacson RG, Smith T, Fischer PA, Menke JG, Sparrow CP, and Mitnaul LJ
Subjects: Animals, Benzoates chemistry, Benzoates pharmacology, Benzylamines chemistry, Benzylamines pharmacology, CHO Cells, Cricetinae, DNA-Binding Proteins, Dose-Response Relationship, Drug, Humans, Liver X Receptors, Orphan Nuclear Receptors, Receptors, Cytoplasmic and Nuclear metabolism, Fluorescence Resonance Energy Transfer methods, Liver metabolism, Miniaturization methods, Receptors, Cytoplasmic and Nuclear agonists, beta-Lactamases chemistry
Abstract: Activation of liver X receptors (LXRs) induces reverse cholesterol transport and increases high-density lipoprotein cholesterol in vivo. Here, we describe novel, functional, homogeneous cell-based fluorescence resonance energy transfer assays for identifying agonists of LXRs using beta-lactamase as the reporter gene. Stable Chinese hamster ovary cell lines expressing LXRalpha-GAL4 or LXRbeta-GAL4 fusion proteins that regulate beta-lactamase transcription from upstream 7 x UAS GAL4 DNA binding sequences were generated and characterized. Synthetic and natural ligands of LXR dose-dependently activated the expression of beta-lactamase in a subtype-specific manner. These assays were used to demonstrate that a 1-pyridyl hydantoin small molecule LXR synthetic ligand specifically activates LXRalpha receptors. The beta-lactamase assays were optimized for cell density, dimethyl sulfoxide sensitivity, and time of agonist stimulation. Clonal LXRbeta-GAL4-beta-lactamase cells were miniaturized into an ultra high throughput (3456-well nanoplates) screening format.
Published: 2003
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49. A beta-lactamase-dependent Gal4-estrogen receptor beta transactivation assay for the ultra-high throughput screening of estrogen receptor beta agonists in a 3456-well format.

Author: Peekhaus NT, Ferrer M, Chang T, Kornienko O, Schneeweis JE, Smith TS, Hoffman I, Mitnaul LJ, Chin J, Fischer PA, Blizzard TA, Birzin ET, Chan W, Inglese J, Strulovici B, Rohrer SP, and Schaeffer JM
Subjects: Animals, CHO Cells, Cricetinae, Dose-Response Relationship, Drug, Estradiol metabolism, Estradiol pharmacology, Estrogen Receptor beta, Genetic Vectors, Humans, Protein Binding drug effects, Protein Binding physiology, Receptors, Estrogen genetics, Transcription Factors genetics, beta-Lactamases genetics, Nanotechnology methods, Receptors, Estrogen agonists, Receptors, Estrogen metabolism, Transcription Factors metabolism, Transcriptional Activation physiology, beta-Lactamases metabolism
Abstract: Estrogen action is mediated via two estrogen receptor (ER) subtypes, ERalpha and ERbeta. Selective ER modulators with balanced high affinity for ERalpha and ERbeta have been developed as therapeutics for the treatment of a variety of diseases, including hormone-responsive breast cancer and osteoporosis. Recent data based primarily on the evaluation of ER-knockout mice have revealed that ERalpha and ERbeta may regulate separate and distinct biological processes. The identification of ERbeta specific ligands could further enhance our understanding of ERbeta biology. In addition, compounds targeting ERbeta may prove useful as therapeutic agents with activity profiles distinguishable from that of estradiol. To discover novel selective ligands for ERbeta, we developed and characterized a cell-based Gal4-ERbeta beta-lactamase reporter gene assay (GERTA) in CHO cells for the ligand-induced activation of the human ERbeta. The sensitivity and selectivity of this assay were found to be comparable to those of an ER ligand-binding assay. The assay was optimized for screening in an ultra high throughput 3456-well nanoplate format and was successfully used to screen a large compound collection for ERbeta agonists. Compounds identified in a primary screen were tested in an in vitro ligand-binding assay to characterize further the selectivity and potency for ERbeta.
Published: 2003
Full Text: View/download PDF

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