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Journal Article

van Dam, Teunis J. P., Kennedy, Julie, van der Lee, Robin ORCID: 0000-0001-7391-9438, de Vrieze, Erik ORCID: 0000-0003-3448-3269, Wunderlich, Kirsten A., Rix, Suzanne, Dougherty, Gerard W., Lambacher, Nils J., Li, Chunmei, Jensen, Victor L., Leroux, Michel R., Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle ORCID: 0000-0002-0494-0783, Knapp, Barbara, Scheel, Jan F., Franco, Brunella, Mans, Dorus A., van Wijk, Erwin, Kepes, Francois, Slaats, Gisela G., Toedt, Grischa, Kremer, Hannie ORCID: 0000-0002-0841-8693, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T., Letteboer, Stef J. F., Oud, Machteld M., van Beersum, Sylvia E. C., Schmidts, Miriam ORCID: 0000-0002-1714-6749, Beales, Philip L., Lu, Qianhao, Giles, Rachel H., Szklarczyk, Radek, Russell, Robert B., Gibson, Toby J., Johnson, Colin A., Blacque, Oliver E., Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald ORCID: 0000-0002-5178-8163, Hernandez-Hernandez, Victor and Huynen, Martijn A. (2019). CiliaCarta: An integrated and validated compendium of ciliary genes. PLoS One, 14 (5). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

Schmidts, Miriam ORCID: 0000-0002-1714-6749 and Liebau, Max C. (2018). Editorial: Genetic Kidney Diseases of Childhood. Front. Pediatr., 6. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360

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

Olbrich, Heike, Schmidts, Miriam ORCID: 0000-0002-1714-6749, Werner, Claudius, Onoufriadis, Alexandros, Loges, Niki T., Raidt, Johanna, Banki, Nora Fanni, Shoemark, Amelia ORCID: 0000-0001-7360-6060, Burgoyne, Tom, Al Turki, Saeed, Hurles, Matthew E., Koehler, Gabriele, Schroeder, Josef, Nuernberg, Gudrun, Nuernberg, Peter, Chung, Eddie M. K., Reinhardt, Richard ORCID: 0000-0001-9376-2132, Marthin, June K., Nielsen, Kim G., Mitchison, Hannah M. and Omran, Heymut (2012). Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry. Am. J. Hum. Genet., 91 (4). S. 672 - 685. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

This list was generated on Wed Nov 30 07:41:10 2022 CET.