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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 | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 904 - 913
Journal Article
by Chaki, Moumita and Airik, Rannar and Ghosh, Amiya K and Giles, Rachel H and Chen, Rui and Slaats, Gisela G and Wang, Hui and Wang, Shaohui and Hurd, Toby W and Zhou, Weibin and Cluckey, Andrew and Gee, Heon Yung and Ramaswami, Gokul and Hong, Chen-Jei and Hamilton, Bruce A and Červenka, Igor and Ganji, Ranjani Sri and Bryja, Vitezslav and Arts, Heleen H and van Reeuwijk, Jeroen and Oud, Machteld M and Letteboer, Stef J.F and Roepman, Ronald and Husson, Hervé and Ibraghimov-Beskrovnaya, Oxana and Yasunaga, Takayuki and Walz, Gerd and Eley, Lorraine and Sayer, John A and Schermer, Bernhard and Liebau, Max C and Benzing, Thomas and Le Corre, Stephanie and Drummond, Iain and Janssen, Sabine and Allen, Susan J and Natarajan, Sivakumar and O’Toole, John F and Attanasio, Massimo and Saunier, Sophie and Antignac, Corinne and Koenekoop, Robert K and Ren, Huanan and Lopez, Irma and Nayir, Ahmet and Stoetzel, Corinne and Dollfus, Helene and Massoudi, Rustin and Gleeson, Joseph G and Andreoli, Sharon P and Doherty, Dan G and Lindstrad, Anna and Golzio, Christelle and Katsanis, Nicholas and Pape, Lars and Abboud, Emad B and Al-Rajhi, Ali A and Lewis, Richard A and Omran, Heymut and Lee, Eva Y.-H.P and Sekiguchi, JoAnn M and Saunders, Rudel and Johnson, Colin A and Garner, Elizabeth and Vanselow, Katja and Andersen, Jens S and Shlomai, Joseph and Nurnberg, Peter and Nurnberg, Gudrun and Levy, Shawn and Smogorzewska, Agata and Otto, Edgar A and Hildebrandt, Friedhelm
Cell, ISSN 0092-8674, 08/2012, Volume 150, Issue 3, pp. 533 - 548
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Journal Article
Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 9, pp. 995 - 1003
Journal Article
by Athanasiou, Y and Zavros, M and Arsali, M and Papazachariou, L and Demosthenous, P and Savva, I and Voskarides, K and Deltas, C and Pierides, A and Feriozzi, S and Perrin, A and West, M and Nicholls, K and Sunder-Plassmann, G and Torras, J and Neumann, P and Cybulla, M and Cofiell, R and Kukreja, A and Bedard, K and Yan, Y and Mickle, A and Ogawa, M and Bedrosian, C and Faas, S and Meszaros, K and Pruess, L and Gondan, M and Ritz, E and Schaefer, F and Testa, A and Spoto, B and Leonardis, D and Sanguedolce, M. C and Pisano, A and Parlongo, M. R and Tripepi, G and Mallamaci, F and Zoccali, C and Trujillano, D and Bullich, G and Ballarin, J and Torra, R and Estivill, X and Ars, E and Kleber, M. E and Delgado, G and Grammer, T. B and Silbernagel, G and Kraemer, B. K and Maerz, W and Riccio, E and Pisani, A and Abdalla, A. A and Malone, A. F and Winn, M. P and Goodship, T and Cronin, C and Conlon, P. J and Casserly, L. F and Nishio, S and Sakuhara, Y and Matsuoka, N and Yamamoto, J and Nakazawa, D and Nakagakaki, T and Abo, D and Shibazaki, S and Atsumi, T and Mazzinghi, B and Giglio, S and Provenzano, A and Becherucci, F and Sansavini, G and Ravaglia, F and Roperto, R. M and Murer, L and Lasagni, L and Materassi, M and Romagnani, P and Schmidts, M and Christou, S and Cortes, C and McInerney-Leo, A and Kayserili, H and Zankl, A and Peter, S and Duncan, E and Wicking, C and Beales, P. L and Mitchison, H and Magestro, M and Vekeman, F and Nichols, T and Karner, P and Duh, M. S and Srivastava, B and Van Doorn-Khosrovani, S. B. V. W and Zonnenberg, B. A and Musetti, C and ... and On Behalf Of The MAURO Working Group and On Behalf Of The Fabry Outcome Survey Renal Working Group and Uk1ok Consortium
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2014, Volume 29, Issue suppl 3, pp. iii339 - iii350
Journal Article
by Cabrera-Lopez, C and Ars, E and Marti, T and Harris, P. C and Torra, R and Clerckx, C and Migeon, T and Chen, Z and Ronco, P and Plaisier, E and Lamers, I. J and Van Reeuwijk, J and Azam, M and Boldt, K and Maria, M and Koster-Kamphuis, L and Qamar, R and Ueffing, M and Cremers, F. P and Roepman, R and Arts, H. H and Papizh, S and Dlin, V and Leontieva, I and Tutelman, K and Perrone, R. D and Bae, K. T and Chapman, A. B and Devuyst, O and Gansevoort, R. T and Grantham, J. J and Higashihara, E and Torres, V. E and Sergeyeva, O and Zhou, W and Blais, J. D and Czerwiec, F. S and Liu, F and Liao, Y and Fu, P and Casteleijn, N and Zittema, D and Bakker, S and Boertien, W and Gaillard, C and Meijer, E and Spithoven, E and Struck, J and Gansevoort, R and Robinson, P and McEwan, P and Hadimeri, H and Ong, A. C. M and Orskov, B and Peces, R and Sandford, R and Scolari, F and Walz, G and Cooke, C and O'Reilly, K and Riwanto, M and Kapoor, S and Rodriguez, D and Edenhofer, I and Segerer, S and Wuthrich, R. P and De Rechter, S and Bacchetta, J and Van Dyck, M and Evenepoel, P and De Schepper, J and Levtchenko, E and Mekahli, D and Carr, A and Makin, A and Baker, A and Obeidova, L and Stekrova, J and Seeman, T and Puchmajerova, A and Reiterova, J and Kohoutova, M and Tesar, V and Treille, S and Bailly, J.-M and Guillaume, B and Tuta, L and Stanigut, A and Botea, F and Jo, H. A and Park, H. C and Kim, H and Han, M and Huh, H and Jeong, J. C and Oh, K.-H and Yang, J and Koo, T. Y and Hwang, Y.-H and Ahn, C and ...
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2014, Volume 29, Issue suppl 3, pp. iii73 - iii78
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, pp. 11491 - 11491
Journal Article
Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1537 - 1546
Journal Article