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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 C 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, G.D 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
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
Journal of Medical Genetics, ISSN 0022-2593, 05/2013, Volume 50, Issue 5, pp. 309 - 323
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2014, Volume 51, Issue 1, pp. 61 - 67
Journal Article
Nature Communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, p. 14279
Journal Article
by Haworth, Simon and Shapland, Chin Yang and Hayward, Caroline and Prins, Bram P and Felix, Janine F and Medina-Gomez, Carolina and Rivadeneira, Fernando and Wang, Carol and Ahluwalia, Tarunveer S and Vrijheid, Martine and Guxens, Mònica and Sunyer, Jordi and Tachmazidou, Ioanna and Walter, Klaudia and Iotchkova, Valentina and Jackson, Andrew and Cleal, Louise and Huffmann, Jennifer and Min, Josine L and Sass, Lærke and Timmers, Paul R. H. J and Turki, Saeed Al and Anderson, Carl A and Anney, Richard and Antony, Dinu and Artigas, María Soler and Ayub, Muhammad and Bala, Senduran and Barrett, Jeffrey C and Barroso, Inês and Beales, Phil and Bentham, Jamie and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, Douglas and Bobrow, Martin and Bochukova, Elena and Bolton, Patrick F and Bounds, Rebecca and Boustred, Chris and Breen, Gerome and Calissano, Mattia and Carss, Keren and Charlton, Ruth and Chatterjee, Krishna and Chen, Lu and Ciampi, Antonio and Cirak, Sebahattin and Clapham, Peter and Clement, Gail and Coates, Guy and Cocca, Massimiliano and Collier, David A and Cosgrove, Catherine and Cox, Tony and Craddock, Nick and Crooks, Lucy and Curran, Sarah and Curtis, David and Daly, Allan and Danecek, Petr and Day, Ian N. M and Day-Williams, Aaron and Dominiczak, Anna and Down, Thomas and Du, Yuanping and Dunham, Ian and Durbin, Richard and Edkins, Sarah and Ekong, Rosemary and Ellis, Peter and Evans, David M and Farooqi, I. Sadaf and Fitzpatrick, David R and Flicek, Paul and Floyd, James and Foley, A. Reghan and Franklin, Christopher S and Futema, Marta and Gallagher, Louise and Gaunt, Tom R and Geihs, Matthias and Geschwind, Daniel and Greenwood, Celia M. T and Griffin, Heather and Grozeva, Detelina and Guo, Xiaosen and Guo, Xueqin and Gurling, Hugh and Hart, Deborah and Hendricks, Audrey E and Holmans, Peter and Howie, Bryan and Huang, Jie and Huang, Liren and Hubbard, Tim and Humphries, Steve E and Hurles, Matthew E and Hysi, Pirro and Jackson, David K and ... and UK10K Consortium and UK10K consortium
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 357 - 16
Journal Article
by Henicks, Auey E and Bochukova, Elena G and Marenne, Gaëlle and Keogh, Julia M and Atanassova, Neli and Bounds, Rebecca and Wheeler, Eleanor and Mistry, Vanisha and Henning, Elana and Körner, Antje and Muddyman, Dawn and McCarthy, Shane and Hinney, Anke and Hebebrand, Johannes and Scott, Robert A and Langenberg, Claudia and Wareham, Nick J and Surenan, Praveen and Howson, Joanna M M and Butterworth, Adam S and Danesh, John and Nordestgaard, Børge G and Nielsen, Sune F and Afzal, Shoaib and Papadia, Sofia and Ashford, Sofie and Garg, Sumedha and Millhauser, Glenn L and Palomino, Rafael I and Kwasniewska, Alexana and Tachmazidou, Ioanna and O'Rahilly, Stephen and Zeggini, Eleftheria and Barroso, Inês and Farooqi, I. Sadaf and Benzeval, Michaela and Burton, Jonathan and Buck, Nicholas and Jäckle, Annette and Kumari, Meena and Laurie, Heather and Lynn, Peter and Pudney, Stephen and Rabe, Birgitta and Wolke, Dieter and Overvad, Kim and Tjønneland, Anne and Clavel-Chapelon, Francoise and Kaaks, Rudolf and Boeing, Heiner and Trichopoulou, Antonia and Ferrari, Pietro and Palli, Domenico and Krogha, Vittorio and Panico, Salvatore and Tuminoa, Rosario and Matullo, Giuseppe and Boer, Jolanda Ma and Van Der Schouw, Yvonne and Weiderpass, Elisabete and Quiros, J. Ramon and Sánchez, María José and Navarro, Carmen and Moreno-Iribas, Conchi and Arriola, Larraitz and Melander, Olle and Wennberg, Patrik and Key, Timothy J and Riboli, Elio and Al-Turki, Saeed and Anderson, Carl A and Anney, Richard and Antony, Dinu and Soler Artigas, María and Ayub, Muhammad and Bala, Senduran and Barrett, Jeffrey C and Beales, Phil and Bentham, Jamie and Bhattacharyaa, Shoumo and Birney, Ewan and Blackwooda, Douglas and Bobrow, Martin and Bolton, Patrick F and Boustred, Chris and Breen, Gerome and Calissanoa, Mattia and Carss, Keren and Charlton, Ruth and Chatterjee, Krishna and Chen, Lu and Ciampia, Antonio and Cirak, Sebahattin and Clapham, Peter and Clement, Gail and Coates, Guy and Coccaa, Massimiliano and Collier, David A and Cosgrove, Catherine and Coxa, Tony and ... and EPIC-CVD Consortium and Understanding Soc Sci Grp and UK10K Consortium and Understanding Society Scientific Group and Kardiovaskulär forskning - hypertoni and Cardiovascular Research - Hypertension and EpiHealth: Epidemiology for Health and Lund University and Lunds universitet and EXODIAB: Excellence in Diabetes Research in Sweden
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 4394 - 14
Journal Article