Analysis of protein-coding genetic variation in 60,706 humans
Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O’Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N., Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G.
Published in Nature (London) (18.08.2016)
Published in Nature (London) (18.08.2016)
Get full text
Journal Article
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Yuen, Michaela, Sandaradura, Sarah A, Dowling, James J, Kostyukova, Alla S, Moroz, Natalia, Quinlan, Kate G, Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J, Ceyhan-Birsoy, Ozge, Gokhin, David S, Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T, Novak, Stefanie M, D'Amico, Adele, Malfatti, Edoardo, Thomas, Brett P, Gabriel, Stacey B, Gupta, Namrata, Daly, Mark J, Ilkovski, Biljana, Houweling, Peter J, Davidson, Ann E, Swanson, Lindsay C, Brownstein, Catherine A, Gupta, Vandana A, Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P, Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B, Sloboda, Darcée D, Bertini, Enrico, Chitayat, David, Telfer, William R, Laquerrière, Annie, Gregorio, Carol C, Ottenheijm, Coen A C, Bönnemann, Carsten G, Pelin, Katarina, Beggs, Alan H, Hayashi, Yukiko K, Romero, Norma B, Laing, Nigel G, Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M, MacArthur, Daniel G, North, Kathryn N, Clarke, Nigel F
Published in The Journal of clinical investigation (01.11.2014)
Published in The Journal of clinical investigation (01.11.2014)
Get full text
Journal Article
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Yuen, Michaela, Sandaradura, Sarah A, Dowling, James J, Kostyukova, Alla S, Moroz, Natalia, Quinlan, Kate G, Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J, Ceyhan-Birsoy, Ozge, Gokhin, David S, Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T, Novak, Stefanie M, D'Amico, Adele, Malfatti, Edoardo, Thomas, Brett P, Gabriel, Stacey B, Gupta, Namrata, Daly, Mark J, Ilkovski, Biljana, Houweling, Peter J, Davidson, Ann E, Swanson, Lindsay C, Brownstein, Catherine A, Gupta, Vandana A, Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P, Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B, Sloboda, Darcée D, Bertini, Enrico, Chitayat, David, Telfer, William R, Laquerrière, Annie, Gregorio, Carol C, Ottenheijm, Coen A C, Bönnemann, Carsten G, Pelin, Katarina, Beggs, Alan H, Hayashi, Yukiko K, Romero, Norma B, Laing, Nigel G, Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M, MacArthur, Daniel G, North, Kathryn N, Clarke, Nigel F
Published in The Journal of clinical investigation (01.01.2015)
Published in The Journal of clinical investigation (01.01.2015)
Get full text
Journal Article
Analysis of protein-coding genetic variation in 60,706 humans
Consortium, Exome Aggregation, Lek, Monkol, Karczewski, Konrad, Minikel, Eric, Samocha, Kaitlin, Banks, Eric, Fennell, Timothy, O'donnell-Luria, Anne, Ware, James, Hill, Andrew, Cummings, Beryl, Tukiainen, Taru, Birnbaum, Daniel, Kosmicki, Jack, Duncan, Laramie, Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David, Deflaux, Nicole, Depristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja, Ami Levy Moonshine, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina, Poplin, Ryan, Rivas, Manuel, Ruano-Rubio, Valentin, Rose, Samuel, Ruderfer, Douglas, Shakir, Khalid, Stenson, Peter, Stevens, Christine, Thomas, Brett, Tiao, Grace, Tusie-Luna, Maria, Weisburd, Ben, Hong-Hee, Won, Yu, Dongmei, Altshuler, David, Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua Roberto, Florez, Jose, Gabriel, Stacey, Getz, Gad, Glatt, Stephen, Hultman, Christina, Sekar Kathiresan, Laakso, Markku, Mccarroll, Steven, Mccarthy, Mark, Mcgovern, Dermot, Mcpherson, Ruth, Neale, Benjamin, Palotie, Aarno, Purcell, Shaun, Saleheen, Danish, Scharf, Jeremiah, Sklar, Pamela, Sullivan, Patrick, Tuomilehto, Jaakko, Tsuang, Ming, Watkins, Hugh, Wilson, James, Daly, Mark, Macarthur, Daniel
Published in bioRxiv (10.05.2016)
Published in bioRxiv (10.05.2016)
Get full text
Paper