Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome von Latour, Brooke L, Van De Weghe, Julie C, Rusterholz, Tamara Ds, Letteboer, Stef Jf, Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E, van Reeuwijk, Jeroen, van Beersum, Sylvia Ec, Miller, Caitlin V, Dempsey, Jennifer C, Morsy, Heba, Bamshad, Michael J, Nickerson, Deborah A, Neuhauss, Stephan Cf, Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A, Alkuraya, Fowzan S, Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan

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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking von Bachmann-Gagescu, Ruxandra, Dona, Margo, Hetterschijt, Lisette, Tonnaer, Edith, Peters, Theo, de Vrieze, Erik, Mans, Dorus A, van Beersum, Sylvia E C, Phelps, Ian G, Arts, Heleen H, Keunen, Jan E, Ueffing, Marius, Roepman, Ronald, Boldt, Karsten, Doherty, Dan, Moens, Cecilia B, Neuhauss, Stephan C F, Kremer, Hannie, van Wijk, Erwin

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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype von Lamers, Ideke J.C., Reijnders, Margot R.F., Venselaar, Hanka, Kraus, Alison, Jansen, Sandra, de Vries, Bert B.A., Houge, Gunnar, Gradek, Gyri Aasland, Seo, Jieun, Choi, Murim, Chae, Jong-Hee, van der Burgt, Ineke, Pfundt, Rolph, Letteboer, Stef J.F., van Beersum, Sylvia E.C., Dusseljee, Simone, Brunner, Han G., Doherty, Dan, Kleefstra, Tjitske, Roepman, Ronald

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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome von Roepman, Ronald, Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen, Ozyurek, Hamit, Farin, Federico M, Kroes, Hester Y, Wolfrum, Uwe, Brunner, Han G, Cremers, Frans P M, Glass, Ian A, Knoers, Nine V A M

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The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function von Lokaj, Mandy, Kösling, Stefanie K., Koerner, Carolin, Lange, Sven M., van Beersum, Sylvia E.C., van Reeuwijk, Jeroen, Roepman, Ronald, Horn, Nicola, Ueffing, Marius, Boldt, Karsten, Wittinghofer, Alfred

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NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish von Dona, Margo, Bachmann-Gagescu, Ruxandra, Texier, Yves, Toedt, Grischa, Hetterschijt, Lisette, Tonnaer, Edith L, Peters, Theo A, van Beersum, Sylvia E C, Bergboer, Judith G M, Horn, Nicola, de Vrieze, Erik, Slijkerman, Ralph W N, van Reeuwijk, Jeroen, Flik, Gert, Keunen, Jan E, Ueffing, Marius, Gibson, Toby J, Roepman, Ronald, Boldt, Karsten, Kremer, Hannie, van Wijk, Erwin

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Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy von Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Boldt, Karsten, de Baere, Elfride, Klaver, Caroline C.W., Coppieters, Frauke, Koolen, David A., Lugtenberg, Dorien, Neveling, Kornelia, van Reeuwijk, Jeroen, Ueffing, Marius, van Beersum, Sylvia E.C., Zonneveld-Vrieling, Marijke N., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.

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A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2 , causes multiple epiphyseal dysplasia (EDM2) von Muragaki, Yasuteru, Warman, Matthew L, van Beersum, Sylvia E.C, Mariman, Edwin C.M, Hamel, Ben C.J, Perälä, Merja, van Mourik, Jan B.A, Olsen, Bjorn R

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PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation von Corral-Serrano, Julio C., Lamers, Ideke J. C., van Reeuwijk, Jeroen, Duijkers, Lonneke, Hoogendoorn, Anita D. M., Yildirim, Adem, Argyrou, Nikoleta, Ruigrok, Renate A. A., Letteboer, Stef J. F., Butcher, Rossano, van Essen, Max D., Sakami, Sanae, van Beersum, Sylvia E. C., Palczewski, Krzysztof, Cheetham, Michael E., Liu, Qin, Boldt, Karsten, Wolfrum, Uwe, Ueffing, Marius, Garanto, Alejandro, Roepman, Ronald, Collin, Rob W. J.

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Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain von Cevik, Sebiha, Sanders, Anna A W M, Van Wijk, Erwin, Boldt, Karsten, Clarke, Lara, van Reeuwijk, Jeroen, Hori, Yuji, Horn, Nicola, Hetterschijt, Lisette, Wdowicz, Anita, Mullins, Andrea, Kida, Katarzyna, Kaplan, Oktay I, van Beersum, Sylvia E C, Man Wu, Ka, Letteboer, Stef J F, Mans, Dorus A, Katada, Toshiaki, Kontani, Kenji, Ueffing, Marius, Roepman, Ronald, Kremer, Hannie, Blacque, Oliver E

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome von Arts, Heleen H, Bongers, Ernie M H F, Mans, Dorus A, van Beersum, Sylvia E C, Oud, Machteld M, Bolat, Emine, Spruijt, Liesbeth, Cornelissen, Elisabeth A M, Schuurs-Hoeijmakers, Janneke H M, de Leeuw, Nicole, Cormier-Daire, Valérie, Brunner, Han G, Knoers, Nine V A M, Roepman, Ronald

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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus von Vikkula, Miikka, Madman, Edwin C.M, Lui, Vincent C.H, Zhidkova, Natalia I, Tiller, George E, Goldring, Mary B, van Beersum, Sylvia E.C, de Waal Malefijt, Maarten C, van den Hoogen, Frank H.J, Ropers, Hans-Hilger, Mayne, Richard, Cheah, Kathryn S.E, Olsen, Bjorn R, Warman, Matthew L, Brunner, Han G

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CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290 von Gorden, Nicholas T., Arts, Heleen H., Parisi, Melissa A., Coene, Karlien L.M., Letteboer, Stef J.F., van Beersum, Sylvia E.C., Mans, Dorus A., Hikida, Abigail, Eckert, Melissa, Knutzen, Dana, Alswaid, Abdulrahman F., Özyurek, Hamit, Dibooglu, Sel, Otto, Edgar A., Liu, Yangfan, Davis, Erica E., Hutter, Carolyn M., Bammler, Theo K., Farin, Frederico M., Dorschner, Michael, Topçu, Meral, Zackai, Elaine H., Rosenthal, Phillip, Owens, Kelly N., Katsanis, Nicholas, Vincent, John B., Hildebrandt, Friedhelm, Rubel, Edwin W., Raible, David W., Knoers, Nine V.A.M., Chance, Phillip F., Roepman, Ronald, Moens, Cecilia B., Glass, Ian A., Doherty, Dan

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Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis von Garanto, Alejandro, van Beersum, Sylvia E C, Peters, Theo A, Roepman, Ronald, Cremers, Frans P M, Collin, Rob W J

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Mutations in LCA5 , encoding the ciliary protein lebercilin, cause Leber congenital amaurosis von Mohamed, Moin D, Wolfrum, Uwe, Kersten, Ferry F J, Rashid, Yasmin, Arts, Heleen H, van Beersum, Sylvia E C, Ueffing, Marius, Boldt, Karsten, Lopez, Irma, Towns, Katherine V, Woods, C Geoff, McKibbin, Martin, Dharmaraj, Sharola, van Wijk, Erwin, Williams, Grange A, Maumenee, Irene H, Inglehearn, Chris F, Nagel-Wolfrum, Kerstin, Veltman, Joris A, Beer, Monika, Gosens, Ilse, Springell, Kelly, Roepman, Ronald, Ivings, Lenka, Strom, Tim M, Zonneveld, Marijke N, Koenekoop, Robert K, Sedmak, Tina, Jafri, Hussain, van der Zwaag, Bert, Cheetham, Michael E, Cremers, Frans P M, den Hollander, Anneke I

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PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia von Faber, Siebren, Letteboer, Stef J F, Junger, Katrin, Butcher, Rossano, Tammana, Trinadh V Satish, van Beersum, Sylvia E C, Ueffing, Marius, Collin, Rob W J, Liu, Qin, Boldt, Karsten, Roepman, Ronald

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A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome von Aslanyan, Mariam G, Doornbos, Cenna, Diwan, Gaurav D, Anvarian, Zeinab, Beyer, Tina, Junger, Katrin, van Beersum, Sylvia E C, Russell, Robert B, Ueffing, Marius, Ludwig, Alexander, Boldt, Karsten, Pedersen, Lotte B, Roepman, Ronald

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Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis or Leber Congenital Amaurosis-Associated Mutations von Ronald Roepman, Stef J. F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Krieger, Elmar, Ferreira, Paulo A., Frans P. M. Cremers, Nathans, Jeremy

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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation von van Bokhoven, Hans, Hamel, Ben C.J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H.G., Vanmolkot, Kaate R.J., van Beusekom, Ellen, van Beersum, Sylvia E.C., Celli, Jacopo, Merkx, Gerard F.M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R.W., Neri, Giovanni, Brunner, Han G.

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CiliaCarta: An integrated and validated compendium of ciliary genes von van Dam, T.J.P, Kennedy, Julie E, van der Lee, Robin, De Vrieze, Erik, Wunderlich, Kirsten A, Rix, Suzanne, Dougherty, Gerard, Lambacher, Nils J, Li, Chunmei, Jensen, Victor L, Leroux, Michel R, Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, Van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F, Franco, Brunella, Mans, Dorus A, Van Wijk, Erwin, Kepes, François, Slaats, Gisela G, Toedt, Grischa, Kremer, Hannie, 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, 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, Hernandez-Hernandez, Victor, Huynen, Martijn H

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