 | Up a level |
Journal Article
Boegershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Ozlem Simsek, Beleggia, Filippo 
ORCID: 0000-0003-0234-7094, Percin, E. Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Liu, Yicheng, Banka, Siddharth ORCID: 0000-0002-8527-2210, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Elcioglu, Nursel, Prontera, Paolo ORCID: 0000-0003-4960-9223, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Stewart, A. Francis, Donnai, Dian, Strom, Tim M., Boduroglu, Koray ORCID: 0000-0001-6260-1942, Yigit, Goekhan, Li, Yun, Katsanis, Nicholas and Wollnik, Bernd
(2015).
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J. Clin. Invest., 125 (9).
S. 3585 - 3600.
ANN ARBOR:
AMER SOC CLINICAL INVESTIGATION INC.
ISSN 1558-8238
Walter, Klaudia, Min, Josine L., Huang, Jie ORCID: 0000-0002-9036-4304, Crooks, Lucy, Memari, Yasin ORCID: 0000-0002-1747-542X, McCarthy, Shane ORCID: 0000-0002-2715-4187, Perry, John R. B., Xu, ChangJiang, Futema, Marta ORCID: 0000-0002-2120-2088, Lawson, Daniel ORCID: 0000-0002-5311-6213, Iotchkova, Valentina ORCID: 0000-0001-5057-0210, Schiffels, Stephan ORCID: 0000-0002-1017-9150, Hendricks, Audrey E., Danecek, Petr, Li, Rui ORCID: 0000-0001-8353-6772, Floyd, James, Wain, Louise V., Barroso, Ines ORCID: 0000-0001-5800-4520, Humphries, Steve E., Hurles, Matthew E., Zeggini, Eleftheria ORCID: 0000-0003-4238-659X, Barrett, Jeffrey C., Plagnol, Vincent ORCID: 0000-0002-5597-9215, Richards, J. Brent, Greenwood, Celia M. T., Timpson, Nicholas J., Durbin, Richard ORCID: 0000-0002-9130-1006, Soranzo, Nicole ORCID: 0000-0003-1095-3852, Bala, Senduran, Clapham, Peter, Coates, Guy ORCID: 0000-0002-8055-4796, Cox, Tony, Daly, Allan, Danecek, Petr, Du, Yuanping, Durbin, Richard ORCID: 0000-0002-9130-1006, Edkins, Sarah ORCID: 0000-0003-0717-1972, Ellis, Peter, Flicek, Paul ORCID: 0000-0002-3897-7955, Guo, Xiaosen, Guo, Xueqin, Huang, Liren, Jackson, David K., Joyce, Chris, Keane, Thomas, Kolb-Kokocinski, Anja, Langford, Cordelia, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Maslen, John, McCarthy, Shane ORCID: 0000-0002-2715-4187, Muddyman, Dawn, Quail, Michael A., Stalker, Jim, Sun, Jianping, Tian, Jing, Wang, Guangbiao, Wang, Jun ORCID: 0000-0002-8540-8931, Wang, Yu, Wong, Kim ORCID: 0000-0002-0984-1477, Zhang, Pingbo, Barroso, Ines ORCID: 0000-0001-5800-4520, Birney, Ewan ORCID: 0000-0001-8314-8497, Boustred, Chris, Chen, Lu, Clement, Gail, Cocca, Massimiliano ORCID: 0000-0002-1127-7596, Danecek, Petr, Smith, George Davey ORCID: 0000-0002-1407-8314, Day, Ian N. M., Day-Williams, Aaron, Down, Thomas, Dunham, Ian ORCID: 0000-0003-2525-5598, Durbin, Richard ORCID: 0000-0002-9130-1006, Evans, David M., Gaunt, Tom R., Geihs, Matthias, Greenwood, Celia M. T., Hart, Deborah, Hendricks, Audrey E., Howie, Bryan, Huang, Jie ORCID: 0000-0002-9036-4304, Hubbard, Tim, Hysi, Pirro, Iotchkova, Valentina ORCID: 0000-0001-5057-0210, Jamshidi, Yalda ORCID: 0000-0003-0151-6482, Karczewski, Konrad J., Kemp, John P. ORCID: 0000-0002-9105-2249, Lachance, Genevieve, Lawson, Daniel ORCID: 0000-0002-5311-6213, Lek, Monkol, Lopes, Margarida, MacArthur, Daniel G., Marchini, Jonathan, Mangino, Massimo, Mathieson, Iain, McCarthy, Shane ORCID: 0000-0002-2715-4187, Memari, Yasin ORCID: 0000-0002-1747-542X, Metrustry, Sarah, Min, Josine L., Moayyeri, Alireza ORCID: 0000-0002-9143-2161, Muddyman, Dawn, Northstone, Kate ORCID: 0000-0002-0602-1983, Panoutsopoulou, Kalliope, Paternoster, Lavinia ORCID: 0000-0003-2514-0889, Perry, John R. B., Quaye, Lydia, Richards, J. Brent, Ring, Susan, Ritchie, Graham R. S., Schiffels, Stephan ORCID: 0000-0002-1017-9150, Shihab, Hashem A., Shin, So-Youn, Small, Kerrin S., Artigas, Maria Soler ORCID: 0000-0002-3213-1107, Soranzo, Nicole ORCID: 0000-0003-1095-3852, Southam, Lorraine, Spector, Timothy D., St Pourcain, Beate ORCID: 0000-0002-4680-3517, Surdulescu, Gabriela, Tachmazidou, Ioanna, Timpson, Nicholas J., Tobin, Martin D., Valdes, Ana M. ORCID: 0000-0003-1141-4471, Visscher, Peter M., Wain, Louise V., Walter, Klaudia, Ward, Kirsten, Wilson, Scott G., Wong, Kim ORCID: 0000-0002-0984-1477, Yang, Jian ORCID: 0000-0003-2001-2474, Zeggini, Eleftheria ORCID: 0000-0003-4238-659X, Zhang, Feng, Zheng, Hou-Feng, Anney, Richard ORCID: 0000-0002-6083-407X, Ayub, Muhammad, Barrett, Jeffrey C., Blackwood, Douglas, Bolton, Patrick F., Breen, Gerome ORCID: 0000-0003-2053-1792, Collier, David A., Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David ORCID: 0000-0002-4089-9183, Durbin, Richard ORCID: 0000-0002-9130-1006, Gallagher, Louise ORCID: 0000-0001-9462-2836, Geschwind, Daniel, Gurling, Hugh, Holmans, Peter, Lee, Irene, Lonnqvist, Jouko, McCarthy, Shane ORCID: 0000-0002-2715-4187, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew ORCID: 0000-0003-1567-2240, Morris, James, Muddyman, Dawn, O'Donovan, Michael C., Owen, Michael J., Palotie, Aarno, Parr, Jeremy R., Paunio, Tiina, Pietilainen, Olli, Rehnstrom, Karola, Sharp, Sally I., Skuse, David, St Clair, David, Suvisaari, Jaana ORCID: 0000-0001-7167-0990, Walters, James T. R., Williams, Hywel J., Barroso, Ines ORCID: 0000-0001-5800-4520, Bochukova, Elena ORCID: 0000-0003-0275-1548, Bounds, Rebecca, Dominiczak, Anna, Durbin, Richard ORCID: 0000-0002-9130-1006, Farooqi, I. Sadaf, Hendricks, Audrey E., Keogh, Julia, Marenne, Gae Lle, McCarthy, Shane ORCID: 0000-0002-2715-4187, Morris, Andrew, Muddyman, Dawn, O'Rahilly, Stephen, Porteous, David J., Smith, Blair H., Tachmazidou, Ioanna, Wheeler, Eleanor ORCID: 0000-0002-8616-6444, Zeggini, Eleftheria ORCID: 0000-0003-4238-659X, Al Turki, Saeed, Anderson, Carl A., Antony, Dinu, Barroso, Ines ORCID: 0000-0001-5800-4520, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo ORCID: 0000-0002-5571-0478, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Durbin, Richard ORCID: 0000-0002-9130-1006, Fitzpatrick, David R., Floyd, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta ORCID: 0000-0002-2120-2088, Grozeva, Detelina ORCID: 0000-0003-3239-8415, Humphries, Steve E., Hurles, Matthew E., McCarthy, Shane ORCID: 0000-0002-2715-4187, Mitchison, Hannah M., Muddyman, Dawn, Muntoni, Francesco, O'Rahilly, Stephen, Onoufriadis, Alexandros, Parker, Victoria, Payne, Felicity ORCID: 0000-0003-4228-581X, Plagnol, Vincent ORCID: 0000-0002-5597-9215, Raymond, F. Lucy, Roberts, Nicola, Savage, David B., Scambler, Peter ORCID: 0000-0002-1487-4628, Schmidts, Miriam ORCID: 0000-0002-1714-6749, Schoenmakers, Nadia ORCID: 0000-0002-0847-2884, Semple, Robert K., Serra, Eva, Spasic-Boskovic, Olivera, Stevens, Elizabeth, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Williamson, Kathleen A., Wilson, Crispian, Whyte, Tamieka, Ciampi, Antonio, Greenwood, Celia M. T., Hendricks, Audrey E., Li, Rui ORCID: 0000-0001-8353-6772, Metrustry, Sarah, Oualkacha, Karim, Tachmazidou, Ioanna, Xu, ChangJiang, Zeggini, Eleftheria ORCID: 0000-0003-4238-659X, Bobrow, Martin, Bolton, Patrick F., Durbin, Richard ORCID: 0000-0002-9130-1006, Fitzpatrick, David R., Griffin, Heather, Hurles, Matthew E., Kaye, Jane ORCID: 0000-0002-7311-4725, Kennedy, Karen, Kent, Alastair, Muddyman, Dawn, Muntoni, Francesco, Raymond, F. Lucy, Semple, Robert K., Smee, Carol, Spector, Timothy D., Timpson, Nicholas J., Charlton, Ruth, Ekong, Rosemary ORCID: 0000-0002-5984-7893, Futema, Marta ORCID: 0000-0002-2120-2088, Humphries, Steve E., Khawaja, Farrah, Lopes, Luis R., Migone, Nicola, Payne, Stewart J., Plagnol, Vincent ORCID: 0000-0002-5597-9215, Pollitt, Rebecca C., Povey, Sue, Ridout, Cheryl K., Robinson, Rachel L., Scott, Richard H., Shaw, Adam, Syrris, Petros, Taylor, Rohan, Vandersteen, Anthony M., Barrett, Jeffrey C., Barroso, Ines ORCID: 0000-0001-5800-4520, Smith, George Davey ORCID: 0000-0002-1407-8314, Durbin, Richard ORCID: 0000-0002-9130-1006, Farooqi, I. Sadaf, Fitzpatrick, David R., Hurles, Matthew E., Kaye, Jane ORCID: 0000-0002-7311-4725, Kennedy, Karen, Langford, Cordelia, McCarthy, Shane ORCID: 0000-0002-2715-4187, Muddyman, Dawn, Owen, Michael J., Palotie, Aarno, Richards, J. Brent, Soranzo, Nicole ORCID: 0000-0003-1095-3852, Spector, Timothy D., Stalker, Jim, Timpson, Nicholas J., Zeggini, Eleftheria ORCID: 0000-0003-4238-659X, Amuzu, Antoinette, Casas, Juan Pablo, Chambers, John C., Cocca, Massimiliano ORCID: 0000-0002-1127-7596, Dedoussis, George, Gambaro, Giovanni, Gasparini, Paolo ORCID: 0000-0002-0859-0856, Gaunt, Tom R., Huang, Jie ORCID: 0000-0002-9036-4304, Iotchkova, Valentina ORCID: 0000-0001-5057-0210, Isaacs, Aaron, Johnson, Jon ORCID: 0000-0001-8482-1620, Kleber, Marcus E., Kooner, Jaspal S., Langenberg, Claudia, Luan, Jian'an, Malerba, Giovanni ORCID: 0000-0001-8705-8560, Maerz, Winfried, Matchan, Angela, Min, Josine L., Morris, Richard ORCID: 0000-0001-7240-4563, Nordestgaard, Borge G., Benn, Marianne ORCID: 0000-0002-1701-595X, Ring, Susan, Scott, Robert A., Soranzo, Nicole ORCID: 0000-0003-1095-3852, Southam, Lorraine, Timpson, Nicholas J., Toniolo, Daniela ORCID: 0000-0001-9545-6032, Traglia, Michela, Tybjaerg-Hansen, Anne, van Duijn, Cornelia M., van Leeuwen, Elisabeth M., Varbo, Anette, Whincup, Peter ORCID: 0000-0002-5589-4107, Zaza, Gianluigi ORCID: 0000-0002-6004-6196, Zeggini, Eleftheria ORCID: 0000-0003-4238-659X and Zhang, Weihua
(2015).
The UK10K project identifies rare variants in health and disease.
Nature, 526 (7571).
S. 82 - 103.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-4687
Yang, Yongjie, van der Klaauw, Agatha A., Zhu, Liangru, Cacciottolo, Tessa M., He, Yanlin ORCID: 0000-0002-5471-9016, Stadler, Lukas K. J., Wang, Chunmei, Xu, Pingwen, Saito, Kenji, Hinton, Antentor, Yan, Xiaofeng, Keogh, Julia M., Henning, Elana, Banton, Matthew C., Hendricks, Audrey E., Bochukova, Elena G., Mistry, Vanisha, Lawler, Katherine L., Liao, Lan, Xu, Jianming, O'Rahilly, Stephen, Tong, Qingchun ORCID: 0000-0002-4561-2540, Barroso, Ines, O'Malley, Bert W., Farooqi, I. Sadaf, Xu, Yong, Balasubramanian, Senduran, Clapham, Peter, Coates, Guy, Cox, Tony, Daly, Allan, Danecek, Petr, Du, Yuanping, Durbin, Richard, Edkins, Sarah, Ellis, Peter, Flicek, Paul, Guo, Xiaosen, Guo, Xueqin, Huang, Liren, Jackson, David K., Joyce, Chris, Keane, Thomas, Kolb-Kokocinski, Anja, Langford, Cordelia, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Maslen, John, McCarthy, Shane, Muddyman, Dawn, Quail, Michael A., Stalker, Jim, Sun, Jianping, Tian, Jing, Wang, Guangbiao, Wang, Jun, Wang, Yu, Wong, Kim, Zhang, Pingbo, Birney, Ewan, Boustred, Chris, Brion, Marie-Jo, Chen, Lu, Clement, Gail, Danecek, Petr, Smith, George Davey ORCID: 0000-0002-1407-8314, Day, Ian N. M., Day-Williams, Aaron, Down, Thomas, Dunham, Ian, Durbin, Richard, Evans, David M., Fatemifar, Ghazaleh, Gaunt, Tom R., Geihs, Matthias, Greenwood, Celia M. T., Hart, Deborah, Howie, Bryan, Huang, Jie, Hubbard, Tim, Hysi, Pirro, Iotchkova, Valentina, Jamshidi, Yalda ORCID: 0000-0003-0151-6482, Kemp, John P., Lachance, Genevieve, Lawson, Daniel, Lek, Monkol, Lopes, Margarida, MacArthur, Daniel G., Marchini, Jonathan, Massimo, Mangino, Mathieson, Iain, McCarthy, Shane, Memari, Yasin, Metrustry, Sarah, Min, Josine L., Moayyeri, Alireza, Muddyman, Dawn, Northstone, Kate, Panoutsopoulou, Kalliope, Paternoster, Lavinia, Perry, John R. B., Quaye, Lydia, Richards, J. Brent, Ring, Susan, Ritchie, Graham R. S., Schiffels, Stephan, Shihab, Hashem A., Shin, So-Youn, Small, Kerrin S., Artigas, Maria Soler, Soranzo, Nicole, Southam, Lorraine, Spector, Timothy D., St Pourcain, Beate, Surdulescu, Gabriela, Tachmazidou, Ioanna, Timpson, Nicholas J., Tobin, Martin D., Valdes, Ana M., Visscher, Peter M., Wain, Louise V., Walter, Klaudia, Ward, Kirsten, Wilson, Scott G., Wong, Kim, Yang, Jian, Zeggini, Eleftheria, Zhang, Feng, Zheng, Hou-Feng, Anney, Richard, Ayub, Muhammad, Barrett, Jeffrey C., Blackwood, Douglas, Bolton, Patrick F., Breen, Gerome, Collier, David A., Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Durbin, Richard, Gallagher, Louise, Geschwind, Daniel, Gurling, Hugh, Holmans, Peter, Lee, Irene, Lonnqvist, Jouko, McCarthy, Shane, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew ORCID: 0000-0003-1567-2240, Morris, James, Muddyman, Dawn, O'Donovan, Michael C., Owen, Michael J., Palotie, Aarno, Parr, Jeremy R., Paunio, Tiina, Pietilainen, Olli, Rehnstrom, Karola, Sharp, Sally I., Skuse, David, St Clair, David, Suvisaari, Jaana, Walters, James T. R., Williams, Hywel J., Bochukova, Elena ORCID: 0000-0003-0275-1548, Bounds, Rebecca, Dominiczak, Anna, Durbin, Richard, Keogh, Julia, Marenne, Gaelle, McCarthy, Shane, Morris, Andrew, Muddyman, Dawn, Porteous, David J., Smith, Blair H., Tachmazidou, Ioanna, Wheeler, Eleanor, Zeggini, Eleftheria, Al Turki, Saeed, Anderson, Carl A., Antony, Dinu, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Durbin, Richard, Fitzpatrick, David R., Floyd, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Grozeva, Detelina, Humphries, Steve E., Hurles, Matthew E., McCarthy, Shane, Mitchison, Hannah M., Muddyman, Dawn, Muntoni, Francesco, Onoufriadis, Alexandros, Parker, Victoria, Payne, Felicity, Plagnol, Vincent, Raymond, F. Lucy, Roberts, Nicola, Savage, David B., Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Spasic-Boskovic, Olivera, Stevens, Elizabeth, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Williamson, Kathleen A., Wilson, Crispian, Whyte, Tamieka, Ciampi, Antonio, Greenwood, Celia M. T., Li, Rui, Metrustry, Sarah, Oualkacha, Karim, Tachmazidou, Ioanna, Xu, ChangJiang, Zeggini, Eleftheria, Bobrow, Martin, Bolton, Patrick F., Durbin, Richard, Fitzpatrick, David R., Griffin, Heather, Hurles, Matthew E., Kaye, Jane, Kennedy, Karen, Kent, Alastair, Muddyman, Dawn, Muntoni, Francesco, Raymond, F. Lucy, Semple, Robert K., Smee, Carol, Spector, Timothy D., Timpson, Nicholas J., Charlton, Ruth, Ekong, Rosemary, Futema, Marta, Humphries, Steve E., Khawaja, Farrah, Lopes, Luis R., Migone, Nicola, Payne, Stewart J., Plagnol, Vincent, Pollitt, Rebecca C., Povey, Sue, Ridout, Cheryl K., Robinson, Rachel L., Scott, Richard H., Shaw, Adam, Syrris, Petros, Taylor, Rohan, Vandersteen, Anthony M., Barrett, Jeffrey C., Smith, George Davey ORCID: 0000-0002-1407-8314, Durbin, Richard, Fitzpatrick, David R., Hurles, Matthew E., Kaye, Jane, Kennedy, Karen, Langford, Cordelia, McCarthy, Shane, Muddyman, Dawn, Owen, Michael J., Palotie, Aarno, Richards, J. Brent, Soranzo, Nicole, Spector, Timothy D., Stalker, Jim, Timpson, Nicholas J., Zeggini, Eleftheria, Amuzu, Antoinette, Casas, Juan Pablo, Chambers, John C., Cocca, Massimiliano, Dedoussis, George, Gambaro, Giovanni, Gasparini, Paolo, Gaunt, Tom R., Huang, Jie, Iotchkova, Valentina, Isaacs, Aaron, Johnson, Jon, Kleber, Marcus E., Kooner, Jaspal S., Langenberg, Claudia, Luan, Jian'an, Malerba, Giovanni, Marz, Winfried, Matchan, Angela, Min, Josine L., Morris, Richard, Nordestgaard, Borge G., Benn, Marianne, Ring, Susan, Scott, Robert A., Soranzo, Nicole, Southam, Lorraine, Timpson, Nicholas J., Toniolo, Daniela ORCID: 0000-0001-9545-6032, Traglia, Michela, Tybjaerg-Hansen, Anne, van Duijn, Cornelia M., van Leeuwen, Elisabeth M., Varbo, Anette, Whincup, Peter, Zaza, Gianluigi, Zeggini, Eleftheria and Zhang, Weihua
(2019).
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis.
Nat. Commun., 10.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723