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Number of items: 12.

Journal Article

Bolduc, Veronique, Foley, A. Reghan, Donkervoort, Sandra, Hu, Ying, Cummings, Beryl B., Lek, Monkol, Sarathy, Apurva, Sizov, Katherine, Degefa, Herimela Solomon, Wagener, Raimund, Hennig, Grant W., Hanssen, Eric, Lamande, Shireen R., Muntoni, Francesco, Wilton, Steve D., MacArthur, Daniel G. and Bonnemann, Carsten G. (2017). A Dominant-Negative COL6A1 Pseudoexon Insertion Is Skippable Using Splice-Modulating Oligonucleotides. Mol. Ther., 25 (5). S. 119 - 121. CAMBRIDGE: CELL PRESS. ISSN 1525-0024

Bolduc, Veronique, Foley, A. Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S., Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan ORCID: 0000-0001-8440-3074, Aguti, Sara, Cummings, Beryl B., Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L., Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J., Jou, Cristina, Jimenez-Mallebrera, Cecilia ORCID: 0000-0001-8203-7103, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valerie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric ORCID: 0000-0002-4064-1844, Wilton, Steve D., Lamande, Shireen R., MacArthur, Daniel G., Wagener, Raimund, Muntoni, Francesco and Bonnemann, Carsten G. (2019). A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight, 4 (6). ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 2379-3708

Finkel, Richard S., Mercuri, Eugenio ORCID: 0000-0002-9851-5365, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon ORCID: 0000-0002-8998-5234, Muntoni, Francesco, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico ORCID: 0000-0001-9276-4590, Davis, Rebecca Hurst, Qian, Ying and Sejersen, Thomas (2018). Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromusc. Disord., 28 (3). S. 197 - 208. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Haworth, Simon ORCID: 0000-0001-7793-7326, Shapland, Chin Yang, Hayward, Caroline ORCID: 0000-0002-9405-9550, Prins, Bram P., Felix, Janine F., Medina-Gomez, Carolina ORCID: 0000-0001-7999-5538, Rivadeneira, Fernando ORCID: 0000-0001-9435-9441, Wang, Carol, Ahluwalia, Tarunveer S., Vrijheid, Martine ORCID: 0000-0002-7090-1758, Guxens, Monica, Sunyer, Jordi ORCID: 0000-0002-2602-4110, Tachmazidou, Ioanna, Walter, Klaudia, Iotchkova, Valentina, Jackson, Andrew ORCID: 0000-0002-8739-2646, Cleal, Louise, Huffmann, Jennifer, Min, Josine L., Sass, Laerke ORCID: 0000-0002-5217-7014, Timmers, Paul R. H. J., Al Turki, Saeed, Anderson, Carl A., Anney, Richard, Antony, Dinu, Artigas, Maria Soler, Ayub, Muhammad, Bala, Senduran, Barrett, Jeffrey C., Barroso, Ines, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo ORCID: 0000-0002-5571-0478, Birney, Ewan ORCID: 0000-0001-8314-8497, Blackwood, Douglas, Bobrow, Martin, Bochukova, Elena, Bolton, Patrick F., Bounds, Rebecca, Boustred, Chris, Breen, Gerome, Calissano, Mattia, Carss, Keren, Charlton, Ruth, Chatterjee, Krishna, Chen, Lu, Ciampi, Antonio, Cirak, Sebahattin, Clapham, Peter, Clement, Gail, Coates, Guy, Cocca, Massimiliano, Collier, David A., Cosgrove, Catherine, Cox, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Daly, Allan, Danecek, Petr, Day, Ian N. M., Day-Williams, Aaron, Dominiczak, Anna, Down, Thomas, Du, Yuanping, Dunham, Ian ORCID: 0000-0003-2525-5598, Durbin, Richard ORCID: 0000-0002-9130-1006, Edkins, Sarah, Ekong, Rosemary ORCID: 0000-0002-5984-7893, Ellis, Peter, Evans, David M., Farooqi, I. Sadaf, Fitzpatrick, David R., Flicek, Paul, Floyd, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Gallagher, Louise ORCID: 0000-0001-9462-2836, Gaunt, Tom R., Geihs, Matthias, Geschwind, Daniel, Greenwood, Celia M. T., Griffin, Heather, Grozeva, Detelina, Guo, Xiaosen, Guo, Xueqin, Gurling, Hugh, Hart, Deborah, Hendricks, Audrey E., Holmans, Peter, Howie, Bryan, Huang, Jie, Huang, Liren, Hubbard, Tim, Humphries, Steve E., Hurles, Matthew E., Hysi, Pirro, Jackson, David K., Jamshidi, Yalda ORCID: 0000-0003-0151-6482, Joyce, Chris, Karczewski, Konrad J., Kaye, Jane ORCID: 0000-0002-7311-4725, Keane, Thomas, Kemp, John P., Kennedy, Karen, Kent, Alastair, Keogh, Julia, Khawaja, Farrah, van Kogelenberg, Margriet, Kolb-Kokocinski, Anja, Lachance, Genevieve, Langford, Cordelia, Lawson, Daniel ORCID: 0000-0002-5311-6213, Lee, Irene, Lek, Monkol, Li, Rui, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Lonnqvist, Jouko, Lopes, Luis R., Lopes, Margarida, MacArthur, Daniel G., Mangino, Massimo, Marchini, Jonathan, Marenne, Gaelle, Maslen, John, Mathieson, Iain, McCarthy, Shane, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew ORCID: 0000-0003-1567-2240, Memari, Yasin, Metrustry, Sarah, Migone, Nicola, Mitchison, Hannah M., Moayyeri, Alireza, Morris, Andrew, Morris, James, Muddyman, Dawn, Muntoni, Francesco, Northstone, Kate ORCID: 0000-0002-0602-1983, O'Donovan, Michael C., O'Rahilly, Stephen, Onoufriadis, Alexandros, Oualkacha, Karim, Owen, Michael J., Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy R., Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Payne, Stewart J., Perry, John R. B., Pietilainen, Olli, Plagnol, Vincent, Pollitt, Rebecca C., Porteous, David J., Povey, Sue, Quail, Michael A., Quaye, Lydia, Raymond, F. Lucy, Rehnstrom, Karola, Richards, J. Brent, Ridout, Cheryl K., Ring, Susan, Ritchie, Graham R. S., Roberts, Nicola, Robinson, Rachel L., Savage, David B., Scambler, Peter, Schiffels, Stephan, Schmidts, Miriam ORCID: 0000-0002-1714-6749, Schoenmakers, Nadia, Scott, Richard H., Semple, Robert K., Serra, Eva, Sharp, Sally I., Shaw, Adam, Shihab, Hashem A., Shin, So-Youn, Skuse, David, Small, Kerrin S., Smee, Carol, Smith, Blair H., Soranzo, Nicole, Southam, Lorraine, Spasic-Boskovic, Olivera, Spector, Timothy D., St Clair, David, Stalker, Jim, Stevens, Elizabeth, Sun, Jianping, Surdulescu, Gabriela, Suvisaari, Jaana, Syrris, Petros, Taylor, Rohan, Tian, Jing, Tobin, Martin D., Valdes, Ana M., Vandersteen, Anthony M., Vijayarangakannan, Parthiban, Visscher, Peter M., Wain, Louise V., Walters, James T. R., Wang, Guangbiao, Wang, Jun, Wang, Yu, Ward, Kirsten, Wheeler, Eleanor, Whyte, Tamieka, Williams, Hywel J., Williamson, Kathleen A., Wilson, Crispian, Wilson, Scott G., Wong, Kim, Xu, ChangJiang, Yang, Jian, Zhang, Feng, Zhang, Pingbo, Zheng, Hou-Feng, Smith, George Davey ORCID: 0000-0002-1407-8314, Fisher, Simon E. ORCID: 0000-0002-3132-1996, Wilson, James F., Cole, Tim J., Fernandez-Orth, Dietmar, Bonnelykke, Klaus, Bisgaard, Hans ORCID: 0000-0003-4131-7592, Pennell, Craig E., Jaddoe, Vincent W. V., Dedoussis, George, Timpson, Nicholas ORCID: 0000-0002-7141-9189, Zeggini, Eleftheria, Vitart, Veronique and St Pourcain, Beate ORCID: 0000-0002-4680-3517 (2019). Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Mercuri, Eugenio ORCID: 0000-0002-9851-5365, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico ORCID: 0000-0001-9276-4590, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon ORCID: 0000-0002-8998-5234, Qian, Ying and Sejersen, Thomas (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromusc. Disord., 28 (2). S. 103 - 116. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Pagnamenta, Alistair T., Kaiyrzhanov, Rauan ORCID: 0000-0003-1640-4010, Zou, Yaqun, Da'as, Sahar, I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen ORCID: 0000-0003-1607-0428, Ferla, Matteo P., Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita ORCID: 0000-0001-7351-959X, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A., Yip, Janice, Foley, A. Reghan, Gutowski, Nicholas, Jungbluth, Heinz ORCID: 0000-0002-7159-3427, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M., Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C., Need, Anna C., Nemeth, Andrea H., Neuhaus, Sarah B., Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W., Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Fakhro, Khalid A., Tajsharghi, Homa, Bonnemann, Carsten G., Taylor, Jenny C. and Houlden, Henry (2021). An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain, 144. S. 584 - 601. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Oezdemir, Oezkan, Daimagueler, Hulya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joel, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma ORCID: 0000-0002-3810-306X, Hanna, Michael ORCID: 0000-0003-0825-4075, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schroeder, Rolf, Thiel, Christian, Reimann, Jens ORCID: 0000-0003-3349-6877, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Dominguez-Gonzalez, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz and Gautel, Mathias (2021). Making sense of missense variants in TTN-related congenital myopathies. Acta Neuropathol., 141 (3). S. 431 - 454. NEW YORK: SPRINGER. ISSN 1432-0533

Spitali, Pietro ORCID: 0000-0003-2783-688X, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca ORCID: 0000-0002-3075-6525, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Suchiman, H. Eka, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmueller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke, Dubrovsky, Alberto, Kornberg, Andrew, North, Kathryn, Ryan, Monique, Webster, Richard, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Kolski, Hanna, Vishwanathan, V., Chidambaranathan, S., Nevo, Yoram, Gorni, Ksenija, Carlo, Jose, Tulinius, Mar, Lotze, Timothy, Bertorini, Tulio E., Day, John W., Karachunski, Peter, Clemens, Paula R., Abdel-Hamid, Hoda, Teasley, Jean, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Connolly, Anne M., Pestronk, Alan, Abresch, R. T., Henricson, Erik K., Joyce, Nanette C., Cnaan, Avital, Gordish-Dressmsn, Heather, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula and Duong, Tina (2020). TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. Eur. J. Hum. Genet., 28 (6). S. 815 - 826. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Sprute, Rosanne, Jergas, Hannah, Oelmez, Akguen, Alawbathani, Salem, Karasoy, Hatice, Dafsari, Hormos Salimi, Becker, Kerstin, Daimagueeler, Huelya-Sevcan, Nuernberg, Peter, Muntoni, Francesco, Topaloglu, Haluk, Uyanik, Goekhan and Cirak, Sebahattin . Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. Am. J. Med. Genet. A. HOBOKEN: WILEY. ISSN 1552-4833

Ullmann, Urielle, D'Argenzio, Luigi ORCID: 0000-0003-4001-2914, Mathur, Shrey, Whyte, Tamieka, Quinlivan, Ros, Longman, Cheryl, Farrugia, Maria Elena, Manzur, Adnan, Willis, Tracey, Jungbluth, Heinz ORCID: 0000-0002-7159-3427, Pitt, Matthew, Cirak, Sebahattin, Feng, Lucy, Stewart, William, Mein, Rachael, Phadke, Rahul, Sewry, Caroline, Sarkozy, Anna and Muntoni, Francesco (2018). ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects. Neuromusc. Disord., 28 (9). S. 741 - 750. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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). 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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

This list was generated on Thu Mar 28 15:40:45 2024 CET.