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by Walter, Klaudia and Min, Josine L and Huang, Jie and Crooks, Lucy and Memari, Yasin and McCarthy, Shane and Perry, John and Xu, Changjiang and Futema, Marta and Lawson, Daniel and Iotchkova, Valentina and Schiffels, Stephan and Henicks, Auey E and Danecek, Petr and Li, Rui and Floyd, James and Wain, Louise and Barroso, Inês and Humphries, Steve and Hurles, Matthew and Zeggini, Eleftheria and Barrett, Jeffrey and Plagnol, Vincent and Richards, Brent and Greenwood, Celia and Timpson, Nicholas and Durbin, Richard and Bala, Senduran and Clapham, Peter and Coates, Guy and Cox, Tony and Daly, Allan and Du, Yuanping and Edkins, Ted and Ellis, Peter and Flicek, Paul and Guo, Xiaosen and Guo, Xueqin and Huang, Liren and Jackson, David K and Joyce, Chris and Keane, Thomas and Kolb-Kokocinski, Anja and Langford, Cordelia and Li, Yingrui and Liang, Jieqin and Lin, Hong and Liu, Ryan and Maslen, John and Muddyman, Dawn and Quail, Michael A and Stalker, Jim and Sun, Jianping and Tian, Jing and Wang, Guangbiao and Wang, Jun and Wang, Yu and Wong, Kim and Zhang, Pingbo and Birney, Ewan and Boustred, Chris and Chen, Lu and Clement, Gail and Cocca, Massimiliano and Smith, Davey and Day, Ian N.M and Day-Williams, Aaron and Down, Thomas and Dunham, David and Evans, David M and Gaunt, Tom and Geihs, Matthias and Hart, Deborah and Howie, Bryan and Hubbard, Tim and Hysi, Pirro and Jamshidi, Yalda and Karczewski, Konrad and Kemp, John and Lachance, Genevieve and Lek, Monkol and Lopes, Margarida and MacArthur, Daniel G and Marchini, Jonathan and Mangino, Massimo and Mathieson, Iain and Metrustry, Sarah and Moayyeri, Alireza and Northstone, Kate and Panoutsopoulou, Kalliope and Paternoster, Lavinia and Quaye, Lydia and Ring, Susan and Ritchie, Graham R.S and Shihab, Hashem A and Shin, So-Youn and Small, Kerrin and Artigas, M.S and Soranzo, Nicole and Southam, Lorraine and ... and UCLEB Consortium and UK10K Consortium and The UK10K Consortium
Nature: international weekly journal of science, ISSN 0028-0836, 10/2015, Volume 526, Issue 7571, pp. 82 - 89
Journal Article
Science, ISSN 0036-8075, 05/2019, Volume 364, Issue 6442, pp. 749 - 749
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
by Haworth, S and Shapland, C.Y and Hayward, Caroline and Prins, Bram and Felix, Janine and Medina-Gomez, Carolina and Rivadeneira Ramirez, Fernando and Wang, C and Ahluwalia, TS and Vrijheid, Martine and Guxens Junyent, Mònica and Sunyer, Jordi and Tachmazidou, I and Walter, K and Iotchkova, V and Jackson, Anne and Cleal, L and Huffmann, J and Min, Josine and Sass, L and Timmers, P and Al Turki, S and Anderson, CA and Anney, Richard and Antony, D and Soler Artigas, Maria and Ayub, M and Bala, S and Barrett, JC and Barroso, Inês and Beales, P and Bentham, J and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, D and Bobrow, M and Bochukova, E and Bolton, PF and Bounds, R and Boustred, C and Breen, Gerome and Calissano, M and Carss, K and Charlton, R and Chatterjee, Krishna and Chen, Leslie and Ciampi, Antonio and Cirak, S and Clapham, P and Clement, G and Coates, G and Cocca, M and Collier, David and Cosgrove, C and Cox, Tessa and Craddock, Nick and Crooks, L and Curran, S and Curtis, David and Daly, A and Danecek, P and Day, Ian and Day-Williams, A and Dominiczak, Anna and Down, T and Li, Yingrui and Dunham, David and Durbin, R and Edkins, Ted and Ekong, Rosemary and Ellis, Paul and Evans, David and Farooqi, Sadaf and Fitzpatrick, David and Flicek, P and Floyd, Jamie and Foley, AR and Franklin, Christopher and Futema, M and Gallagher, Louise and Gaunt, Tom and Geihs, M and Geschwind, D and Greenwood, John and Griffin, H and Grozeva, Detelina and Guo, X.S and Guo, Xiuqing and Gurling, Hugh and Hart, Deborah and Henicks, AE and Holmans, Peter and Howie, B and Huang, Jian and Huang, L.R and Hubbard, T and Humphries, Steve and Hurles, Matthew and Hysi, Pirro and Jackson, DK and ... and UK10K Consortium and UK10K consortium
Nature Communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 357 - 16
Journal Article
Journal Article
Gastroenterology, ISSN 0016-5085, 2016, Volume 150, Issue 7, pp. 1568 - 1578
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2013, Volume 110, Issue 16, pp. 6269 - 6274
Journal Article
by Palles, Claire and Chegwidden, Laura and Li, Xinzhong and Findlay, John M and Farnham, Garry and Castro Giner, Francesc and Peppelenbosch, Maikel P and Kovac, Michal and Adams, Claire L and Prenen, Hans and Briggs, Sarah and Harrison, Rebecca and Sanders, Scott and MacDonald, David and Haigh, Chris and Tucker, Art and Love, Sharon and Nanji, Manoj and Decaestecker, John and Ferry, David and Rathbone, Barrie and Hapeshi, Julie and Barr, Hugh and Moayyedi, Paul and Watson, Peter and Zietek, Barbara and Maroo, Neera and Gay, Laura and Underwood, Tim and Boulter, Lisa and McMurtry, Hugh and Monk, David and Patel, Praful and Ragunath, Krish and Al Dulaimi, David and Murray, Iain and Koss, Konrad and Veitch, Anew and Trudgill, Nigel and Nwokolo, Chuka and Rembacken, Bjorn and Atherfold, Paul and Green, Elaine and Ang, Yeng and Kuipers, Ernst J and Chow, Wu and Paterson, Stuart and Kai, Sudarshan and Beales, Ian and Grimley, Charles and Mullins, Paul and Beckett, Conrad and Farrant, Mark and Dixon, Anew and Kelly, Sean and Johnson, Matthew and Wajed, Shahjehan and Dhar, Anjan and Sawyer, Elinor and Roylance, Rebecca and Onstad, Lynn and Gammon, Marilie D and Corley, Douglas A and Shaheen, Nicholas J and Bird, Nigel C and Hardie, Laura J and Reid, Brian J and Ye, Weimin and Liu, Geoffrey and Romero, Yvonne and Bernstein, Leslie and Wu, Anna H and Casson, Alan G and Fitzgerald, Rebecca and Whiteman, David C and Risch, Harvey A and Levine, David M and Vaughan, Tom L and Verhaar, Auke P and van den Brande, Jan and Toxopeus, Eelke L and Spaander, Manon C and Wijnhoven, Bas P. L and van der Laan, Luc J. W and Krishnadath, Kausilia and Wijmenga, Cisca and Trynka, Gosia and McManus, Ross and Reynolds, John V and O'Sullivan, Jacintha and MacMathuna, Paaic and McGarrigle, Sarah A and Kelleher, Dermot and Vermeire, Severine and Cleynen, Isabelle and Bisschops, Raf and Tomlinson, Ian and Jankowski, Janusz
Gastroenterology, ISSN 0016-5085, 2015, Volume 148, Issue 2, pp. 367 - 378
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