Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

by Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.
Published 2013

The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function

by 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
Published 2015

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

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.
Published 2013

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

by 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
Published 2015

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

by 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
Published 2015

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

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.
Published 2015

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

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.
Published 2016

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

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
Published 2016