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	21.	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. [electronic resource] by 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 Roepman, Ronald Producer: 20070904 In: Nature genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation. [electronic resource] by 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 Producer: 20200728 In: Proceedings of the National Academy of Sciences of the United States of America vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. [electronic resource] by 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 Producer: 20140820 In: PLoS genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. [electronic resource] by Estrada-Cuzcano, Alejandro Neveling, Kornelia Kohl, Susanne Banin, Eyal Rotenstreich, Ygal Sharon, Dror Falik-Zaccai, Tzipora C Hipp, Stephanie Roepman, Ronald Wissinger, Bernd Letteboer, Stef J F Mans, Dorus A Blokland, Ellen A W Kwint, Michael P Gijsen, Sabine J van Huet, Ramon A C Collin, Rob W J Scheffer, H Veltman, Joris A Zrenner, Eberhart den Hollander, Anneke I Klevering, B Jeroen Cremers, Frans P M Producer: 20120312 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. [electronic resource] by Saksens, Nicole T M Krebs, Mark P Schoenmaker-Koller, Frederieke E Hicks, Wanda Yu, Minzhong Shi, Lanying Rowe, Lucy Collin, Gayle B Charette, Jeremy R Letteboer, Stef J Neveling, Kornelia van Moorsel, Tamara W Abu-Ltaif, Sleiman De Baere, Elfride Walraedt, Sophie Banfi, Sandro Simonelli, Francesca Cremers, Frans P M Boon, Camiel J F Roepman, Ronald Leroy, Bart P Peachey, Neal S Hoyng, Carel B Nishina, Patsy M den Hollander, Anneke I Producer: 20160603 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. [electronic resource] by Schmidts, Miriam Hou, Yuqing Cortés, Claudio R Mans, Dorus A Huber, Celine Boldt, Karsten Patel, Mitali van Reeuwijk, Jeroen Plaza, Jean-Marc van Beersum, Sylvia E C Yap, Zhi Min Letteboer, Stef J F Taylor, S Paige Herridge, Warren Johnson, Colin A Scambler, Peter J Ueffing, Marius Kayserili, Hulya Krakow, Deborah King, Stephen M Beales, Philip L Al-Gazali, Lihadh Wicking, Carol Cormier-Daire, Valerie Roepman, Ronald Mitchison, Hannah M Witman, George B Producer: 20160818 In: Nature communications vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. [electronic resource] by Ta-Shma, Asaf Hjeij, Rim Perles, Zeev Dougherty, Gerard W Abu Zahira, Ibrahim Letteboer, Stef J F Antony, Dinu Darwish, Alaa Mans, Dorus A Spittler, Sabrina Edelbusch, Christine Cindrić, Sandra Nöthe-Menchen, Tabea Olbrich, Heike Stuhlmann, Friederike Aprea, Isabella Pennekamp, Petra Loges, Niki T Breuer, Oded Shaag, Avraham Rein, Azaria J J T Gulec, Elif Yilmaz Gezdirici, Alper Abitbul, Revital Elias, Nael Amirav, Israel Schmidts, Miriam Roepman, Ronald Elpeleg, Orly Omran, Heymut Producer: 20190114 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. [electronic resource] by Schmidts, Miriam Hou, Yuqing Cortés, Claudio R Mans, Dorus A Huber, Celine Boldt, Karsten Patel, Mitali van Reeuwijk, Jeroen Plaza, Jean-Marc van Beersum, Sylvia E C Yap, Zhi Min Letteboer, Stef J F Taylor, S Paige Herridge, Warren Johnson, Colin A Scambler, Peter J Ueffing, Marius Kayserili, Hulya Krakow, Deborah King, Stephen M Beales, Philip L Al-Gazali, Lihadh Wicking, Carol Cormier-Daire, Valerie Roepman, Ronald Mitchison, Hannah M Witman, George B Producer: 20160411 In: Nature communications vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. [electronic resource] by Hjeij, Rim Onoufriadis, Alexandros Watson, Christopher M Slagle, Christopher E Klena, Nikolai T Dougherty, Gerard W Kurkowiak, Małgorzata Loges, Niki T Diggle, Christine P Morante, Nicholas F C Gabriel, George C Lemke, Kristi L Li, You Pennekamp, Petra Menchen, Tabea Konert, Franziska Marthin, June Kehlet Mans, Dorus A Letteboer, Stef J F Werner, Claudius Burgoyne, Thomas Westermann, Cordula Rutman, Andrew Carr, Ian M O'Callaghan, Christopher Moya, Eduardo Chung, Eddie M K Sheridan, Eamonn Nielsen, Kim G Roepman, Ronald Bartscherer, Kerstin Burdine, Rebecca D Lo, Cecilia W Omran, Heymut Mitchison, Hannah M Producer: 20141030 In: American journal of human genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. [electronic resource] by 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 Ozyurek, 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 Producer: 20090106 In: American journal of human genetics vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	DYX1C1 is required for axonemal dynein assembly and ciliary motility. [electronic resource] by Tarkar, Aarti Loges, Niki T Slagle, Christopher E Francis, Richard Dougherty, Gerard W Tamayo, Joel V Shook, Brett Cantino, Marie Schwartz, Daniel Jahnke, Charlotte Olbrich, Heike Werner, Claudius Raidt, Johanna Pennekamp, Petra Abouhamed, Marouan Hjeij, Rim Köhler, Gabriele Griese, Matthias Li, You Lemke, Kristi Klena, Nikolas Liu, Xiaoqin Gabriel, George Tobita, Kimimasa Jaspers, Martine Morgan, Lucy C Shapiro, Adam J Letteboer, Stef J F Mans, Dorus A Carson, Johnny L Leigh, Margaret W Wolf, Whitney E Chen, Serafine Lucas, Jane S Onoufriadis, Alexandros Plagnol, Vincent Schmidts, Miriam Boldt, Karsten Roepman, Ronald Zariwala, Maimoona A Lo, Cecilia W Mitchison, Hannah M Knowles, Michael R Burdine, Rebecca D Loturco, Joseph J Omran, Heymut Producer: 20131126 In: Nature genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	CiliaCarta: An integrated and validated compendium of ciliary genes. [electronic resource] by van Dam, Teunis J P Kennedy, Julie van der Lee, Robin de Vrieze, Erik 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 Knapp, Barbara Scheel, Jan F Franco, Brunella Mans, Dorus A van Wijk, Erwin Képès, 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 A Producer: 20200117 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. [electronic resource] by Otto, Edgar A Hurd, Toby W Airik, Rannar Chaki, Moumita Zhou, Weibin Stoetzel, Corinne Patil, Suresh B Levy, Shawn Ghosh, Amiya K Murga-Zamalloa, Carlos A van Reeuwijk, Jeroen Letteboer, Stef J F Sang, Liyun Giles, Rachel H Liu, Qin Coene, Karlien L M Estrada-Cuzcano, Alejandro Collin, Rob W J McLaughlin, Heather M Held, Susanne Kasanuki, Jennifer M Ramaswami, Gokul Conte, Jinny Lopez, Irma Washburn, Joseph Macdonald, James Hu, Jinghua Yamashita, Yukiko Maher, Eamonn R Guay-Woodford, Lisa M Neumann, Hartmut P H Obermüller, Nicholas Koenekoop, Robert K Bergmann, Carsten Bei, Xiaoshu Lewis, Richard A Katsanis, Nicholas Lopes, Vanda Williams, David S Lyons, Robert H Dang, Chi V Brito, Daniela A Dias, Mónica Bettencourt Zhang, Xinmin Cavalcoli, James D Nürnberg, Gudrun Nürnberg, Peter Pierce, Eric A Jackson, Peter K Antignac, Corinne Saunier, Sophie Roepman, Ronald Dollfus, Helene Khanna, Hemant Hildebrandt, Friedhelm Producer: 20101028 In: Nature genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. [electronic resource] by Boldt, Karsten van Reeuwijk, Jeroen Lu, Qianhao Koutroumpas, Konstantinos Nguyen, Thanh-Minh T Texier, Yves van Beersum, Sylvia E C Horn, Nicola Willer, Jason R Mans, Dorus A Dougherty, Gerard Lamers, Ideke J C Coene, Karlien L M Arts, Heleen H Betts, Matthew J Beyer, Tina Bolat, Emine Gloeckner, Christian Johannes Haidari, Khatera Hetterschijt, Lisette Iaconis, Daniela Jenkins, Dagan Klose, Franziska Knapp, Barbara Latour, Brooke Letteboer, Stef J F Marcelis, Carlo L Mitic, Dragana Morleo, Manuela Oud, Machteld M Riemersma, Moniek Rix, Susan Terhal, Paulien A Toedt, Grischa van Dam, Teunis J P de Vrieze, Erik Wissinger, Yasmin Wu, Ka Man Apic, Gordana Beales, Philip L Blacque, Oliver E Gibson, Toby J Huynen, Martijn A Katsanis, Nicholas Kremer, Hannie Omran, Heymut van Wijk, Erwin Wolfrum, Uwe Kepes, François Davis, Erica E Franco, Brunella Giles, Rachel H Ueffing, Marius Russell, Robert B Roepman, Ronald Producer: 20180907 In: Nature communications vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. [electronic resource] by Chaki, Moumita Airik, Rannar Ghosh, Amiya K Giles, Rachel H Chen, Rui Slaats, Gisela G Wang, Hui Hurd, Toby W Zhou, Weibin Cluckey, Andrew Gee, Heon Yung Ramaswami, Gokul Hong, Chen-Jei Hamilton, Bruce A Cervenka, Igor Ganji, Ranjani Sri Bryja, Vitezslav Arts, Heleen H van Reeuwijk, Jeroen Oud, Machteld M Letteboer, Stef J F Roepman, Ronald Husson, Hervé Ibraghimov-Beskrovnaya, Oxana Yasunaga, Takayuki Walz, Gerd Eley, Lorraine Sayer, John A Schermer, Bernhard Liebau, Max C Benzing, Thomas Le Corre, Stephanie Drummond, Iain Janssen, Sabine Allen, Susan J Natarajan, Sivakumar O'Toole, John F Attanasio, Massimo Saunier, Sophie Antignac, Corinne Koenekoop, Robert K Ren, Huanan Lopez, Irma Nayir, Ahmet Stoetzel, Corinne Dollfus, Helene Massoudi, Rustin Gleeson, Joseph G Andreoli, Sharon P Doherty, Dan G Lindstrad, Anna Golzio, Christelle Katsanis, Nicholas Pape, Lars Abboud, Emad B Al-Rajhi, Ali A Lewis, Richard A Omran, Heymut Lee, Eva Y-H P Wang, Shaohui Sekiguchi, Joann M Saunders, Rudel Johnson, Colin A Garner, Elizabeth Vanselow, Katja Andersen, Jens S Shlomai, Joseph Nurnberg, Gudrun Nurnberg, Peter Levy, Shawn Smogorzewska, Agata Otto, Edgar A Hildebrandt, Friedhelm Producer: 20121019 In: Cell vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. [electronic resource] by Wheway, Gabrielle Schmidts, Miriam Mans, Dorus A Szymanska, Katarzyna Nguyen, Thanh-Minh T Racher, Hilary Phelps, Ian G Toedt, Grischa Kennedy, Julie Wunderlich, Kirsten A Sorusch, Nasrin Abdelhamed, Zakia A Natarajan, Subaashini Herridge, Warren van Reeuwijk, Jeroen Horn, Nicola Boldt, Karsten Parry, David A Letteboer, Stef J F Roosing, Susanne Adams, Matthew Bell, Sandra M Bond, Jacquelyn Higgins, Julie Morrison, Ewan E Tomlinson, Darren C Slaats, Gisela G van Dam, Teunis J P Huang, Lijia Kessler, Kristin Giessl, Andreas Logan, Clare V Boyle, Evan A Shendure, Jay Anazi, Shamsa Aldahmesh, Mohammed Al Hazzaa, Selwa Hegele, Robert A Ober, Carole Frosk, Patrick Mhanni, Aizeddin A Chodirker, Bernard N Chudley, Albert E Lamont, Ryan Bernier, Francois P Beaulieu, Chandree L Gordon, Paul Pon, Richard T Donahue, Clem Barkovich, A James Wolf, Louis Toomes, Carmel Thiel, Christian T Boycott, Kym M McKibbin, Martin Inglehearn, Chris F Stewart, Fiona Omran, Heymut Huynen, Martijn A Sergouniotis, Panagiotis I Alkuraya, Fowzan S Parboosingh, Jillian S Innes, A Micheil Willoughby, Colin E Giles, Rachel H Webster, Andrew R Ueffing, Marius Blacque, Oliver Gleeson, Joseph G Wolfrum, Uwe Beales, Philip L Gibson, Toby Doherty, Dan Mitchison, Hannah M Roepman, Ronald Johnson, Colin A Producer: 20151022 In: Nature cell biology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)