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151. 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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152. A new mapp of the Kingdome of England : representing the princedom of Wales, and other provinces, cities, market towns, with the roads from town to town, and the number of reputed miles between them are given by inspection without scale or compass. Printed and given out at Amsteldam by Nicolas Visscher ... (to accompany) Atlas minor sive totius orbis terrarum contracta delinea ex conatibus Nico. Visscher. 1690. (half title page) Atlas Minor sive Geographia Compendiosa, qua Orbis Terrarum.

Author

Visscher, Nicolaes, 1649-1702. and Overton, John

Subjects
England, Wales, Amsterdam
Abstract

Hand colored in outline engraved folded John Overton edition of Visscher's map of England and Wales "Printed and given out at Amsteldam by Nicolas Visscher upon the Dam at the signe of the fisher, with priviledge of ye States Generalls. and are to be sould at London by John Overton at the White Horse without Newgate." Includes decorative cartouches and coat of arms. Showing administrative boundaries, cities, market towns, post roads, great roads, small roads, waterways, ports, lakes and mountains. Relief shown pictorially. Includes index to cities and market towns is the right and left of the map., Seventeenth century atlas of the World by Nicholas Visscher. With Engraved allegorical title page, on sheet 51x31, printed in full color, followed by letterpress half title page. Consists of 127 engraved maps, hand-colored in outline and full, with elegant title cartouche. Visscher is well-known for the depth of accuracy within his maps, and for embellishing the maps' beauty further with small detailing. This work is known for the high quality of engraving, exceptionally fine ornament, and accurate geographical information. His true innovation lies in his rendering of the New World, where he added small variations to the still widely unknown North American coastlines. About 1690 Visscher retouched the old plate of N.J. Visscher, by adding the city of Philadelphia and the name of the state Pennsylvania. Majority of the maps are published by Visscher with additional maps by several other mapmakers. The Atlas Minor is a fine and comprehensive composite atlas, and one of a series of large atlases compiled and sold by the Visscher family of art dealers and cartographers in the 17th century., Koeman Vis 12, P. 169-170., Koeman Vis 19, P. 169-170. But our copy is circa 1690.

Published
1690

153. Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

Author

Dewey, Frederick E., Gusarova, Viktoria, OʼDushlaine, Colm, Gottesman, Omri, Trejos, Jesus, Hunt, Charleen, Van Hout, Cristopher V., Habegger, Lukas, Buckler, David, Lai, Ka-Man V., Leader, Joseph B., Murray, Michael F., Ritchie, Marylyn D., Kirchner, Lester H., Ledbetter, David H., Penn, John, Lopez, Alexander, Borecki, Ingrid B., Overton, John D., Reid, Jeffrey G., Carey, David J., Murphy, Andrew J., Yancopoulos, George D., Baras, Aris, Gromada, Jesper, and Shuldiner, Alan R.

Published
2016
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154. 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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156. 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
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157. 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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158. 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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160. Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma

Author

Juhlin, C. Christofer, Goh, Gerald, Healy, James M., Fonseca, Annabelle L., Scholl, Ute I., Stenman, Adam, Kunstman, John W., Brown, Taylor C., Overton, John D., Mane, Shrikant M., Nelson-Williams, Carol, Bäckdahl, Martin, Suttorp, Anna-Carinna, Haase, Matthias, Choi, Murim, Schlessinger, Joseph, Rimm, David L., Höög, Anders, Prasad, Manju L., Korah, Reju, Larsson, Catharina, Lifton, Richard P., and Carling, Tobias

Published
2015

164. Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies.

Author

Cavazos, Taylor B., Kachuri, Linda, Graff, Rebecca E., Nierenberg, Jovia L., Thai, Khanh K., Alexeeff, Stacey, Van Den Eeden, Stephen, Corley, Douglas A., Kushi, Lawrence H., Regeneron Genetics Center, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Karalis, Katia, Lotta, Luca A., Overton, John D., and Reid, Jeffrey G.

Subjects
GENETIC variation, CANCER susceptibility, CANCER diagnosis
Abstract

Background: Up to one of every six individuals diagnosed with one cancer will be diagnosed with a second primary cancer in their lifetime. Genetic factors contributing to the development of multiple primary cancers, beyond known cancer syndromes, have been underexplored.Methods: To characterize genetic susceptibility to multiple cancers, we conducted a pan-cancer, whole-exome sequencing study of individuals drawn from two large multi-ancestry populations (6429 cases, 165,853 controls). We created two groupings of individuals diagnosed with multiple primary cancers: (1) an overall combined set with at least two cancers across any of 36 organ sites and (2) cancer-specific sets defined by an index cancer at one of 16 organ sites with at least 50 cases from each study population. We then investigated whether variants identified from exome sequencing were associated with these sets of multiple cancer cases in comparison to individuals with one and, separately, no cancers.Results: We identified 22 variant-phenotype associations, 10 of which have not been previously discovered and were significantly overrepresented among individuals with multiple cancers, compared to those with a single cancer.Conclusions: Overall, we describe variants and genes that may play a fundamental role in the development of multiple primary cancers and improve our understanding of shared mechanisms underlying carcinogenesis. [ABSTRACT FROM AUTHOR]

Published
2022
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167. Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

Author

Kosmicki, Jack A., primary, Horowitz, Julie E., additional, Banerjee, Nilanjana, additional, Lanche, Rouel, additional, Marcketta, Anthony, additional, Maxwell, Evan, additional, Bai, Xiaodong, additional, Sun, Dylan, additional, Backman, Joshua D., additional, Sharma, Deepika, additional, Kury, Fabricio S.P., additional, Kang, Hyun M., additional, O’Dushlaine, Colm, additional, Yadav, Ashish, additional, Mansfield, Adam J., additional, Li, Alexander H., additional, Watanabe, Kyoko, additional, Gurski, Lauren, additional, McCarthy, Shane E., additional, Locke, Adam E., additional, Khalid, Shareef, additional, O’Keeffe, Sean, additional, Mbatchou, Joelle, additional, Chazara, Olympe, additional, Huang, Yunfeng, additional, Kvikstad, Erika, additional, O’Neill, Amanda, additional, Nioi, Paul, additional, Parker, Meg M., additional, Petrovski, Slavé, additional, Runz, Heiko, additional, Szustakowski, Joseph D., additional, Wang, Quanli, additional, Wong, Emily, additional, Cordova-Palomera, Aldo, additional, Smith, Erin N., additional, Szalma, Sandor, additional, Zheng, Xiuwen, additional, Esmaeeli, Sahar, additional, Davis, Justin W., additional, Lai, Yi-Pin, additional, Chen, Xing, additional, Justice, Anne E., additional, Leader, Joseph B., additional, Mirshahi, Tooraj, additional, Carey, David J., additional, Verma, Anurag, additional, Sirugo, Giorgio, additional, Ritchie, Marylyn D., additional, Rader, Daniel J., additional, Povysil, Gundula, additional, Goldstein, David B., additional, Kiryluk, Krzysztof, additional, Pairo-Castineira, Erola, additional, Rawlik, Konrad, additional, Pasko, Dorota, additional, Walker, Susan, additional, Meynert, Alison, additional, Kousathanas, Athanasios, additional, Moutsianas, Loukas, additional, Tenesa, Albert, additional, Caulfield, Mark, additional, Scott, Richard, additional, Wilson, James F., additional, Baillie, J. Kenneth, additional, Butler-Laporte, Guillaume, additional, Nakanishi, Tomoko, additional, Lathrop, Mark, additional, Richards, J. Brent, additional, Jones, Marcus, additional, Balasubramanian, Suganthi, additional, Salerno, William, additional, Shuldiner, Alan R., additional, Marchini, Jonathan, additional, Overton, John D., additional, Habegger, Lukas, additional, Cantor, Michael N., additional, Reid, Jeffrey G., additional, Baras, Aris, additional, Abecasis, Goncalo R., additional, and Ferreira, Manuel A.R., additional

Published
2021
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168. Storying place: A tok stori about relationalities in Oceanic education and development

Author

Overton, John, Murray, Warwick, de la Torre Parra, Lorena, Overton, John, Murray, Warwick, and de la Torre Parra, Lorena

Abstract

Education and development are intimately connected and highly contested in Oceania, in theory and in practice. Indigenous Oceanic notions and practices of both education and development are fundamentally relational, and are expressions of culture, identity, kinship, and embeddedness in place. Oceanic peoples are engaged in ongoing resistance and negotiation with externally imposed models of education and development, at a variety of scales. This study is an inquiry into relationalities at the intersection of education and development in Oceania. It is a body of work that has emerged from the author’s extensive relationships in East New Britain province, Papua New Guinea. The research has an explicit decolonising agenda, reflected in the use of the relational practice of tok stori as the primary methodological framework, in order to centre the knowledge, practices and interests of Oceanic peoples. The relational space created by storying with Gunantuna/Tolai elders, educators, development practitioners, and other community members in East New Britain, brought forth uniquely place centred insights about the ways development and education are articulated, contested, negotiated and reclaimed by Indigenous peoples at the local level.

Published
2021

169. De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Author

Sanders, Stephan J., Murtha, Michael T., Gupta, Abha R., Murdoch, John D., Raubeson, Melanie J., Willsey, A. Jeremy, Ercan-Sencicek, A. Gulhan, DiLullo, Nicholas M., Parikshak, Neelroop N., Stein, Jason L., Walker, Michael F., Ober, Gordon T., Teran, Nicole A., Song, Youeun, El-Fishawy, Paul, Murtha, Ryan C., Choi, Murim, Overton, John D., Bjornson, Robert D., Carriero, Nicholas J., Meyer, Kyle A., Bilguvar, Kaya, Mane, Shrikant M., Sestan, Nenad, Lifton, Richard P., Gunel, Murat, Roeder, Kathryn, Geschwind, Daniel H., Devlin, Bernie, and State, Matthew W.

Subjects
Gene mutations -- Health aspects, Single nucleotide polymorphisms -- Research, Autism -- Genetic aspects -- Risk factors -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders (1-3). But whereas denovo single nucleotide variants have been identified in affected individuals (4), their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent denovosingle nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, a subunit), a result that is highly unlikely by chance., We completed whole-exome sequencing in 238 families from the Simons Simplex Collection (SSC), a comprehensively phenotyped autism spectrum disorders (ASD) cohort consisting of pedigrees with two unaffected parents, an affected [...]

Published
2012
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173. How do university students of different ethnic backgrounds perceive factors that hinder learning in STEM and non-STEM majors?

Author

Radmehr, Farzad, Niazi, Najmeh, Rezvanifard, Faezeh, Farsani, Danyal, Laban, Winnie, Overton, John, and Bakker, Leon

Abstract

This study explores university students' perceptions of factors that hinder student learning with particular attention to students' discipline (STEM vs non-STEM) and ethnicity. A sample of 1684 university students in New Zealand participated in this study. Students' responses to an open-ended question were first inductively coded and then quantitatively analyzed using Chi-square independence test and logistic regression. The findings identified several situational, dispositional, and institutional factors that hinder student learning, among them financial difficulties and work commitments, health, and family issues were more dominant. These factors are perceived differently by students of different disciplines and ethnicities. For instance, Asian students were less likely to refer to financial difficulties and work commitments compared to the other ethnicities, whereas Pasifika and then Māori students perceived family issues more than other ethnic groups. STEM major students were more likely to believe the teaching quality restricts their learning than their non-STEM counterparts. The study findings have several educational and well-being implications for diverse bodies of students in tertiary education. [ABSTRACT FROM AUTHOR]

Published
2022
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174. Grounding financialisation: Development, inclusion, and agency.

Author

Banks, Glenn and Overton, John

Subjects
*FINANCIALIZATION, *INTERNATIONAL economic assistance, *CAPITAL structure, *FINANCIAL institutions, DEVELOPING countries
Abstract

The increasing complexity and visibility of financial capital and processes in the global economy and in everyday lives offers both tantalising promise and pitfalls. This review of financialisation in global development develops three key themes: debates and contests over the definition, nature, and extent of financialisation ("what is it"); the erosion within these debates of distinctions between long‐held categories within development – between intentional and immanent, or "big D" and "little d" development, for example; and an exploration of how financialisation has drawn attention to more complex understandings and analyses of risk and its implications for the global economy and everyday lives in the Global South. Drawing on material from the Pacific and situating this alongside existing literature, this review uses these themes to argue that while there is much that is new in the nuance of these processes, there is nothing inherently emancipatory in the new technologies of financialisation. And the often heralded "democratisation of finance" that it represents often serves to extend the reach of capitalism and ties individuals, households, and communities more tightly into the global circuits and structures of capital. These processes themselves though are rarely uncontested, and the plethora of forms they assume reflect localised conditions, geographies, and forms of agency. Development and aid are being increasingly financialised as new financial institutions and products permeate into the developments sector. This process has profound implications for the way we understand new configurations of development and the way risk is reconstituted as a financial commodity. [ABSTRACT FROM AUTHOR]

Published
2022
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177. 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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178. 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

179. 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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180. The significance and impacts of a youth-led empowerment program and youth-led community development interventions in Myanmar

Author

Overton, John, Soe, Thu Maung, Overton, John, and Soe, Thu Maung

Abstract

In Myanmar, youth are traditionally perceived as a less significant segment of the society. Hence, youth development issues and problems around youth have attracted little attention from community members. Youth empowerment is a human resource development tool and a process designed to help the development of young individuals, by enabling them to solve their own problems and contribute to the development of their community. This qualitative study examines youth empowerment initiatives of one youth-led organization and its alumni by employing Appreciative Inquiry (AI) and conducting semi-structured interviews. This study focuses on how a youth-led organization has empowered youth to become socially engaged for social transformation and get involved in the country’s development sector. Results show that empowerment is an ongoing process and reveal a new dimension of youth empowerment in the Myanmar context. This study found that the nature of youth-led development organizations for youth and social change movements differed. Youth-led empowerment actions offer learning opportunities and create spaces for young people to participate in community movements. Moreover, Socially Engaged Buddhism (SEB) is an alternative to the conventional empowerment approaches, which offers Buddhist principles for individual development of young people and stimulates youth to get involved in collective social change movements to tackle structural injustices.

Published
2020

181. The Pacific Reset: A Retroliberal Analysis

Author

Murray , Warwick, Overton, John, McDowall, Thomas, Murray , Warwick, Overton, John, and McDowall, Thomas

Abstract

The interaction and relationships between stakeholders, international trends, history and politics, inform the shape and sequencing of development policy. The Pacific Reset policy initiative of the Sixth Labour Government is an example of how such interactions not only impact, but contribute to understandings on development policy. Despite being a recent policy announcement, the Pacific Reset was understood as being informed by the factors listed above and is a geopolitically motivated statement of capability in the region. The last decade of development thinking has shifted towards a model of economic growth, defined by ‘shared prosperity’ and development tied to national interest. Marking a distinct aid regime, retroliberalism offers the theoretical rigour to this research. In analysing the understandings of the Pacific Reset through such a lens, the Pacific Reset loosely aligns with the tenets of retroliberalism. Although it was found that rhetoric surrounding the Pacific Reset marks New Zealand’s divergence from typical retroliberal, and current global development discourses. Using critical discourse analysis of rhetoric surrounding the announcement, and early stages of the Pacific Reset, together with a thematic analysis of eight interviews, this thesis examines the understandings of the Pacific Reset as communicated by members of the New Zealand development community. It assesses the factors involved in the policy’s formation, and its impact on Pacific-focused development activities, before discussing the extent retroliberalism can interpret the Pacific Reset. This research found the Pacific Reset to be an amalgam of policies, modalities, and structures of earlier New Zealand development policy. Historical patterns of development assistance, personalities and style of engagement, and path dependence in policy were found to impact the Pacific Reset. Participants understood the policy as merely a shift in rhetoric and a geopolitical statement of renewed engageme

Published
2020

182. Understanding Pasifika Educational Aspirations and Conceptions of Development in Wainuiomata

Author

Overton, John, McLeod, Holly, Overton, John, and McLeod, Holly

Abstract

Education is good for development. This positive relationship between education and development is often stated without challenge, resulting in education being posited at the forefront of global development strategies. Yet, within the subject of Development Studies, postdevelopment theorists have questioned the very basis of ‘development’, not only its definition but also the inherent assumption that it is necessarily desirable and positive. Instead, they point to examples such as Buen Vivir and argue that we should explore different ways of conceptualising what is a good life. The present research has sought to examine the way the Pasifika community in Wainuiomata, Aotearoa perceives and engages with education to fulfil its own vision of development. Some 30 research participants contributed their valuable time and energy to this project through semi-structured interviews, offering insight into their own educational experiences and aspirations. Through employing a methodological approach informed by the ethos of talanoa and participatory research, this research has privileged the narratives of participants, giving voice to their experiences within an academic context. This research has identified that while the experiences of these families within Aotearoa’s education system have been frustrating and challenging, such adversity has not served to disenfranchise Pasifika families from engaging within this educational system. Rather, it has served as motivation to create better educational experiences for youth in this community today. Furthermore, the vision of development aspired toward by this community is one that draws both similarities and contrasts with mainstream conceptions of development. The existence of alternative conceptions of development supports post-development’s call for development practise to examine local context and community aspirations, and to value community knowledge and action. In examining the way this community has engaged with education

Published
2020

183. Solo Motherhood and the State: Precarity, Agency, and Post-Development Discourse in Aotearoa New Zealand

Author

Overton, John, Sheoran Appleton, Nayantara, Simpson, Lizzy, Overton, John, Sheoran Appleton, Nayantara, and Simpson, Lizzy

Abstract

The rise of the ‘precariat’ under neoliberalism has garnered the attention of development studies scholars. Drawing on and contributing to this literature, in this thesis I explore the lived experiences of solo mothers in Aotearoa New Zealand and their own precarity in relation to a neoliberal State. Through interviewing seven self-identified solo mothers in the Greater Wellington region, in this thesis I explore solo mothers negotiations with the State through the following areas: state welfare, child support, employment, and housing. I outline how the State often exacerbates the precarity of the research participants, but also highlight the different tactics the participants employ to enact their agency and push back against the State. Shifting the discursive focus of Development Studies from the ‘Global South’ to the ‘Global North’, the experiences of the participants highlight the very real issues of inequality manifesting in the ‘developed’ setting. Informed by the visions of the participants and the wider literature, this research contributes to scholarship in gender post-development studies, illustrating the need for a comprehensive, socialistic welfare state, and to methodologically see value in localising development research in a way that accounts for local complexities. In opposition to neoliberal discourse, this thesis calls for the valorisation of care work, to better account for the competing responsibilities of solo mothers and to lessen the precarity they experience in their everyday lives.

Published
2020

184. The plans and aspirations of teenage students in semi-rural Timor-Leste

Author

Overton, John, Mitchell, Anna, Overton, John, and Mitchell, Anna

Abstract

While there is wide agreement that education supports development, there is also much scholarship to suggest that the potential benefits of education are only fully realised when education systems are well-adapted to local needs. Systems left by colonial in newly independent developing countries, for instance, can impede the achievement of their development goals. This project focused on the plans and aspirations of secondary school students in Ermera subdistrict, a semi-rural region of Timor-Leste, in order to explore the relationship between education and local livelihoods. Three case study communities in Ermera vila, Ponilala and Mirtutu were examined. Guided by the concept of the ‘good life’, I sought to reveal what students, parents and educators hope to get out of education and development. This enabled me to assess whether the schooling that students are receiving is supporting their future goals. The methodology combined ethnographic observation with other qualitative and quantitative data collection. It comprised twenty-two weeks in-country: volunteering, and conducting surveys and interviews. The ensuing data analysis draws on education theory, alternative development theory, and decolonisation theory. Overall I found that the secondary school curriculum is Western-oriented, and focused on getting students into university rather than on preparing them for the kinds of lives they are likely to lead. Students overwhelmingly aspire to university or vocational study, once they leave school. Conceptions of the good life in the three communities centre on social connectedness and opportunities for the next generation. While there is an evident disconnect between the content of available secondary education and local livelihood realities, there have been successful initiatives from within all three communities to expand education over the past twenty years to include local skills and epistemologies. An extension of these efforts to create a more diverse education

Published
2020

185. Enterprising or Enterprise? Sustainable rural training centre models in the Solomon Islands

Author

Overton, John, Egan, Finn, Overton, John, and Egan, Finn

Abstract

This thesis assesses the educational relevance, impact and operational sustainability, of community rural training centres (RTCs) and external ‘development’ practice across the Solomon Islands over the last five years. It further legitimises RTCs as effective hubs of ‘development’ for informal livelihoods and rural community interests. The thesis adopts a post-development lens in its assessment of insights obtained from qualitative interviews with 87 participants, spanning four RTC locations and in consultation with other stakeholders. Particular attention is given to Escobar’s local models of practice (Escobar, 1995) in understanding processes of ‘development’ at the community level. It assessed the nature and purpose of RTCs for community conceptions of ‘development’ and ‘modernity’, identifying their impact in this regard. Alongside this, the thesis assessed the impact of external ‘development’ programming on the RTC model of practice, including considerations of output relevance and sustainability. Overall, a social enterprise model (Ridley-Duff & Bull, 2018) was found to be insufficient to understanding the RTC model of practice. Such a model failed to account for the varied conceptions of ‘modernity’ at the local level, and instead a more holistic model of RTC operation was proposed. This helps to expand discourses of localised practice in the context of ‘development’. Evidence from participants showed clear positive impacts of the model in supporting different stakeholders’ goals for ‘development’ at the community level. Mainstream discourses of ‘knowledge’ transfer were challenged by showing the agency and, at times, power, community actors possessed in localising new learnings into current understandings as they saw fit. While external programming played a key part in these processes, its role was as a facilitator of RTC models of practice rather than as the main driver of community ‘development’. Rather than simply replacing one set of ‘knowledge’ with ano

Published
2020

186. In Business with God: The Role of Religion in the Private Sector of Apia, Samoa

Author

Overton, John, Bush, Gabriel, Overton, John, and Bush, Gabriel

Abstract

Religion, in particular Christianity, has a large impact on Business in Samoa. Through surveys and interviews, this research was able to ascertain areas in which Christianity and business intersect to determine its daily function and the broader implications of doing business in a highly Christian nation. Christianity has taken on its own form of ‘Samoan Christianity’ through the merging of religion and fa’aSamoa which allows business owners facilitate the practice of religion, primarily for their staff members, while not being deeply religious themselves. This ‘Samoan Christianity’ is influenced by the disproportionate number of Catholics represented in the private sector who face fewer practical and financial demands than other denominations along with the assistance of historical privileges gained the status of the Catholic Marist Brothers. Businesses in Apia are heavily impacted by staff loans, theft and cultural demands, but owners maintain a positive outlook on the spiritual benefits that religion brings to their lives. Business owners are heavily critical of organised religion in Samoa, particularly the church and priests, believing fewer financial demands on staff members would ease the negative impacts of religion on business. However, interested in preserving the culture and religion of their unique homeland, business owners have opted to observe religiously motivated practises such as closing on Sundays as they believe this to be more important than financial gain.

Published
2020

187. Exploring the Livelihoods of Internally Displaced Persons in Kachin State, Myanmar

Author

Overton, John, Lazum, Htu Tawng, Overton, John, and Lazum, Htu Tawng

Abstract

The issue of Internally Displaced Persons (IDPs) is a global crisis yet little research has been focused on the issue of the livelihoods of IDPs. Providing short-term emergency assistance is not enough when the period of displacement becomes permanent or longer than expected. IDPs need long-term solutions in order to resume a normal life. Pursuing appropriate livelihoods in urban areas is a big challenge yet constructing potential livelihoods is fundamental to achieving decent living not only for short-term situations but also for the long run. The lack of access to livelihoods is one of the most serious obstacles to durable solutions for IDPs, and long-term livelihood strategies are needed to lay the foundation for future development. This study explores Kachin IDPs in Myanmar and their livelihood strategies and activities in urban camps by applying qualitative methods, the study focuses on how IDPs have been building their livelihoods during their displacement and who has been involved in supporting their livelihoods. This research also seeks insight into the effectiveness and sustainability of those livelihood activities and other potential strategies. Results show that most livelihood activities are supported by both local and international humanitarian and development agencies and are mainly undertaken through local organisations. Agriculture and livestock rearing are preferred livelihoods of IDPs although getting appropriate land is challenging in urban areas. Income-generating programmes such as food processing, carpentry and bamboo handicrafts are also popular and successful activities. Moreover, tailoring, brick making, and pig rearing are also effective and helpful livelihoods for individuals. Those who are involved in livelihood support activities receive benefits and advantages for their family and daily needs while the majority of IDPs are working in day labouring. Respondents believe current livelihood activities can become sustainable as long as they

Published
2020

188. Beyond the Rhetoric of Participation: A Case Study of Participatory Practices and Power in East Nusa Tenggara, Indonesia

Author

Overton, John, Ecclestone, Cynthia, Overton, John, and Ecclestone, Cynthia

Abstract

This study looks critically at the practices of participatory development by a local NGO in East Nusa Tenggara, Indonesia. In doing so, the Life Skills Training programme is chosen as a case study of potentially participatory development. By exploring people’s experiences, perceptions, and feelings about their participation, the study examines the power dynamics in the programme. To gather data, the study used semi-structured interviews and observations. Interviews were conducted with 14 research participants, who were purposively selected from different backgrounds. The study finds that the approaches of the programme point to lower-level forms of participation, with local people having both minimal involvement and little role in decision-making. Despite the use of the rhetoric of participation, doubts about the quality of participation are raised particularly in relation to gender, age, and religious differences. By scrutinising the ways in which issues of power manifest in the programme, the study demonstrates that issues of power and power relations in participatory development are quite complex. Using the frameworks of power analysis, I argue that issues related to inequalities of power are manifested in the NGO’s domination of decision-making processes, and that these issues were also contributed to by a patriarchal culture and filial piety. More importantly, I argue that people’s participation in the programme is less likely lead to meaningful outcomes if the issues of power imbalances are not addressed. The study provides useful insights into ways to improve the practices of participatory development. An increased understanding of various forms of power and their implications will be useful for development practitioners to exercise their power to make a difference. Moreover, efforts to reduce power imbalances in participatory development will be inadequate without critically examining and attending to power and its dynamics. Without a deeper understanding of

Published
2020

189. How Local People Use Their Indigenous Knowledge to Respond to Floods and Droughts: A Case Study of Tonle Sap Lake Community, Cambodia

Author

Overton, John, Seng, Sopheak, Overton, John, and Seng, Sopheak

Abstract

This thesis investigates the impacts of floods and droughts in the Tonle Sap Lake region and examines to what extent the local communities’ indigenous knowledge (IK) is used to deal with floods and droughts. The thesis begins by exploring the Tonle Sap Lake communities’ perceptions of climate change, especially floods and droughts and their impacts on local livelihoods. It then examines how the communities have used their IK to develop livelihood adaptation methods to cope with floods and droughts. To conduct this study, a qualitative methodology was adopted using semi-structured interviews, and non-participant and unstructured observation as the main methods. The semi-structured interviews were conducted with local people and local authorities from two communities, and NGO staff. The study found that the intensity of floods and droughts in the Tonle Sap Lake region has increased in the last few years. Floods and droughts have threatened local livelihoods and food security. To mitigate the effects of floods and droughts, the local communities in this region have developed various livelihood adaptation strategies to adapt to the hazards. The communities appeared to use both IK and technologies for their adaptation strategies. IK is seen as an invaluable local community asset in developing livelihood adaptation methods. Although a mixture of IK and new knowledge has been used to develop various adaptation strategies, the sufficiency of the adaptation is still limited. The current severity of climate change is seen to limit the local communities’ response capacities. To strengthen the communities’ adaptation capacity, contribution and involvement from non-governmental organisations and the government in developing climate change adaptation policy at a local level are essential.

Published
2020

190. The influence of culture on ethnic women's use of microfinance for empowerment in Luang Namtha Province, Laos

Author

Overton, John, Tongnamavong, Souasong, Overton, John, and Tongnamavong, Souasong

Abstract

The empowerment of women is essential but remains challenging globally. It has been supported by microfinance projects, particularly in recent decades across poor countries. Yet the contribution of microfinance to women’s empowerment remains controversial given the complexity of empowerment itself. It is commonly acknowledged that empowerment starts from within individuals themselves. It is also acknowledged that culture plays a significant role in women’s empowerment. Despite these acknowledgements, the complexities remain unclear in the Lao context which is the target of this study. This study examines the contribution of microfinance to the empowerment of women in Laos with a focus on the elements of culture. It is based on a feminist perspective, with a focus on a personal empowerment conceptual framework which enables the core values of empowerment to be examined. The examination is undertaken by employing semistructured interviews and focus groups for data collection with three ethnic groups in northern Laos, namely Hmong, Khmu and Tai-Yuan, participating in the Access to Finance for the Poor (AFP) project. The results show that the approach of the AFP project tends to meet women’s practical needs rather than their strategic needs. This is because the project’s approach appears to be influenced by the national approach of Laos in which the provision of opportunities for women is emphasised. It is also because ethnic women’s participation in the project is driven by so many practical needs that it makes their strategic needs invisible. The results also revealed that the women’s strategic needs are diverse, due to their particular culture and traditions. The results showed several gaps in the empowerment of women in the country. If these gaps are to be closed, there is a need for efforts from many stakeholders, particularly in the education sector, as the gender agenda needs to be integrated into its national curriculum. Keywords: women’s empowerment, microfinan

Published
2020

192. 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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193. Kidney disease genetic risk variants alter lysosomal beta-mannosidase ( MANBA ) expression and disease severity

Author

Gu, Xiangchen, primary, Yang, Hongliu, additional, Sheng, Xin, additional, Ko, Yi-An, additional, Qiu, Chengxiang, additional, Park, Jihwan, additional, Huang, Shizheng, additional, Kember, Rachel, additional, Judy, Renae L., additional, Park, Joseph, additional, Damrauer, Scott M., additional, Nadkarni, Girish, additional, Loos, Ruth J. F., additional, My, Vy Thi Ha, additional, Chaudhary, Kumardeep, additional, Bottinger, Erwin P., additional, Paranjpe, Ishan, additional, Saha, Aparna, additional, Brown, Christopher, additional, Akilesh, Shreeram, additional, Hung, Adriana M., additional, Palmer, Matthew, additional, Baras, Aris, additional, Overton, John D., additional, Reid, Jeffrey, additional, Ritchie, Marylyn, additional, Rader, Daniel J., additional, and Susztak, Katalin, additional

Published
2021
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194. Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations

Author

Park, Joseph, primary, Lucas, Anastasia M., additional, Zhang, Xinyuan, additional, Chaudhary, Kumardeep, additional, Cho, Judy H., additional, Nadkarni, Girish, additional, Dobbyn, Amanda, additional, Chittoor, Geetha, additional, Josyula, Navya S., additional, Katz, Nathan, additional, Breeyear, Joseph H., additional, Ahmadmehrabi, Shadi, additional, Drivas, Theodore G., additional, Chavali, Venkata R. M., additional, Fasolino, Maria, additional, Sawada, Hisashi, additional, Daugherty, Alan, additional, Li, Yanming, additional, Zhang, Chen, additional, Bradford, Yuki, additional, Weaver, JoEllen, additional, Verma, Anurag, additional, Judy, Renae L., additional, Kember, Rachel L., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Ferreira, Manuel A. R., additional, Li, Alexander H., additional, Baras, Aris, additional, LeMaire, Scott A., additional, Shen, Ying H., additional, Naji, Ali, additional, Kaestner, Klaus H., additional, Vahedi, Golnaz, additional, Edwards, Todd L., additional, Chen, Jinbo, additional, Damrauer, Scott M., additional, Justice, Anne E., additional, Do, Ron, additional, Ritchie, Marylyn D., additional, and Rader, Daniel J., additional

Published
2021
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195. De novo mutations in histone-modifying genes in congenital heart disease

Author

Zaidi, Samir, Choi, Murim, Wakimoto, Hiroko, Ma, Lijiang, Jiang, Jianming, Overton, John D., Romano-Adesman, Angela, Bjornson, Robert D., Breitbart, Roger E., Brown, Kerry K., Carriero, Nicholas J., Cheung, Yee Him, Deanfield, John, DePalma, Steve, Fakhro, Khalid A., Glessner, Joseph, Hakonarson, Hakon, Italia, Michael J., Kaltman, Jonathan R., Kaski, Juan, Kim, Richard, Kline, Jennie K., Lee, Teresa, Leipzig, Jeremy, Lopez, Alexander, Mane, Shrikant M., Mitchell, Laura E., Newburger, Jane W., Parfenov, Michael, Pe’er, Itsik, Porter, George, Roberts, Amy E., Sachidanandam, Ravi, Sanders, Stephan J., Seiden, Howard S., State, Mathew W., Subramanian, Sailakshmi, Tikhonova, Irina R., Wang, Wei, Warburton, Dorothy, White, Peter S., Williams, Ismee A., Zhao, Hongyu, Seidman, Jonathan G., Brueckner, Martina, Chung, Wendy K., Gelb, Bruce D., Goldmuntz, Elizabeth, Seidman, Christine E., and Lifton, Richard P.

Published
2013
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196. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO

Author

Clark, Victoria E., Erson-Omay, Zeynep E., Serin, Akdes, Yin, Jun, Cotney, Justin, Özduman, Koray, Avşar, Timuçin, Li, Jie, Murray, Phillip B., Henegariu, Octavian, Yilmaz, Saliha, Günel, Jennifer Moliterno, Carrión-Grant, Geneive, Yilmaz, Baran, Grady, Conor, Tanrkulu, Bahattin, Bakiraoğlu, Mehmet, Kaymakçalan, Hande, Caglayan, Ahmet Okay, Sencar, Leman, Ceyhun, Emre, Atik, Fatih A., Bayri, Yaşar, Bai, Hanwen, Kolb, Luis E., Hebert, Ryan M., Omay, Bulent S., Mishra-Gorur, Ketu, Choi, Murim, Overton, John D., Holland, Eric C., Mane, Shrikant, State, Matthew W., Bilgüvar, Kaya, Baehring, Joachim M., Gutin, Philip H., Piepmeier, Joseph M., Vortmeyer, Alexander, Brennan, Cameron W., Pamir, Necmettin M., Klç, Türker, Lifton, Richard P., Noonan, James P., Yasuno, Katsuhito, and Günel, Murat

Published
2013
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198. Clinical Implications of the Amyloidogenic V122I Transthyretin Variant in the General Population.

Author

Kozlitina, Julia, Garg, Sonia, Drazner, Mark H., Matulevicius, Susan A., Ayers, Colby, Overton, John, Reid, Jeffrey, Baras, Aris, Rao, Krishnasree, Pandey, Ambarish, Berry, Jarett, de Lemos, James A., and Grodin, Justin L.

Abstract

Background: The V122I variant in transthyretin (TTR) is the most common amyloidogenic mutation worldwide. The aim of this study is to describe the cardiac phenotype and risk for adverse cardiovascular outcomes of young V122I TTR carriers in the general population.Methods and Results: TTR genotypes were extracted from whole-exome sequence data in participants of the Dallas Heart Study. Participants with African ancestry, available V122I TTR genotypes (N = 1818) and either cardiac magnetic resonance imaging (n = 1364) or long-term follow-up (n = 1532) were included. The prevalence of V122I TTR carriers (45 ± 10 years) was 3.2% (n/N = 59/1818). The V122I TTR carriers had higher baseline left ventricular wall thickness (8.52 ± 1.82 vs 8.21 ± 1.62 mm, adjusted P = .038) than noncarriers, but no differences in other cardiac magnetic resonance imaging measures (P > .05 for all). Although carrier status was not associated with amino terminal pro-B-type natriuretic peptide (NT-proBNP) at baseline (P = .79), V122I TTR carriers had a greater increase in NT-proBNP on follow-up than noncarriers (median 28.5 pg/mL, interquartile range 11.4-104.1 pg/mL vs median 15.9 pg/mL, interquartile range 0.0-43.0 pg/mL, adjusted P = .018). V122I TTR carriers were at a higher adjusted risk of heart failure (hazard ratio 3.82, 95% confidence interval 1.80-8.13, P < .001), cardiovascular death (hazard ratio 2.65, 95% confidence interval 1.14-6.15, P = .023), and all-cause mortality (hazard ratio 1.95, 95% confidence interval 1.08-3.51, P = .026) in comparison with noncarriers.Conclusions: V122I TTR carrier status was associated with a greater increase in NT-proBNP, slightly greater left ventricular wall thickness, and a higher risk for heart failure, cardiovascular death, and all-cause mortality. These findings suggest the need to develop amyloidosis screening strategies for V122I TTR carriers. [ABSTRACT FROM AUTHOR]

Published
2022
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199. Arguing Anselm's argument

Author

Overton, John

Subjects
Christian literature, Early -- Criticism and interpretation, Philosophy and religion
Abstract

The poetic architecture of Saint Anselm's 'Proslogian' is discussed, with a focus on analytic components of the text. The text is then seen as a ritualized invocation of religious illumination rather than as a logical argument.

Published
2001

200. Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

Author

Szustakowski, Joseph D., primary, Balasubramanian, Suganthi, additional, Sasson, Ariella, additional, Khalid, Shareef, additional, Bronson, Paola G., additional, Kvikstad, Erika, additional, Wong, Emily, additional, Liu, Daren, additional, Davis, J. Wade, additional, Haefliger, Carolina, additional, Loomis, A. Katrina, additional, Mikkilineni, Rajesh, additional, Noh, Hyun Ji, additional, Wadhawan, Samir, additional, Bai, Xiaodong, additional, Hawes, Alicia, additional, Krasheninina, Olga, additional, Ulloa, Ricardo, additional, Lopez, Alex, additional, Smith, Erin N., additional, Waring, Jeff, additional, Whelan, Christopher D., additional, Tsai, Ellen A., additional, Overton, John, additional, Salerno, William, additional, Jacob, Howard, additional, Szalma, Sandor, additional, Runz, Heiko, additional, Hinkle, Greg, additional, Nioi, Paul, additional, Petrovski, Slavé, additional, Miller, Melissa R., additional, Baras, Aris, additional, Mitnaul, Lyndon, additional, and Reid, Jeffrey G., additional

Published
2020
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