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

Bằng Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.
Được phát hành 2013

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

Bằng Roepman, Ronald, Letteboer, Stef J. F., Arts, Heleen H., van Beersum, Sylvia E. C., Lu, Xinrong, Krieger, Elmar, Ferreira, Paulo A., Cremers, Frans P. M.
Được phát hành 2005

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

Bằng 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
Xuất bản năm Structure (2015)

Altered regulation of platelet-derived growth factor receptor-α gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins

Bằng Joosten, Paul H. L. J., Hol, Frans A., van Beersum, Sylvia E. C., Peters, Heiko, Hamel, Ben C. J., Afink, Gijs B., van Zoelen, Everardus J. J., Mariman, Edwin C. M.
Được phát hành 1998

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

Bằng Bongers, Ernie M. H. F., Duijf, Pascal H. G., van Beersum, Sylvia E. M., Schoots, Jeroen, van Kampen, Albert, Burckhardt, Andreas, Hamel, Ben C. J., Lošan, František, Hoefsloot, Lies H., Yntema, Helger G., Knoers, Nine V. A. M., van Bokhoven, Hans
Được phát hành 2004

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

Bằng Eblimit, Aiden, Nguyen, Thanh-Minh T., Chen, Yiyun, Esteve-Rudd, Julian, Zhong, Hua, Letteboer, Stef, Van Reeuwijk, Jeroen, Simons, David L., Ding, Qian, Wu, Ka Man, Li, Yumei, Van Beersum, Sylvia, Moayedi, Yalda, Xu, Huidan, Pickard, Patrick, Wang, Keqing, Gan, Lin, Wu, Samuel M., Williams, David S., Mardon, Graeme, Roepman, Ronald, Chen, Rui
Xuất bản năm Hum Mol Genet (2015)

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

Bằng 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
Xuất bản năm PLoS Genet (2015)

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

Bằng Nguyen, Thanh-Minh T, Hull, Sarah, Roepman, Ronald, van den Born, L Ingeborgh, Oud, Machteld M, de Vrieze, Erik, Hetterschijt, Lisette, Letteboer, Stef J F, van Beersum, Sylvia E C, Blokland, Ellen A, Yntema, Helger G, Cremers, Frans P M, van der Zwaag, Paul A, Arno, Gavin, van Wijk, Erwin, Webster, Andrew R, Haer-Wigman, Lonneke
Xuất bản năm J Med Genet (2017)

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

Bằng 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
Xuất bản năm PLoS Genet (2015)

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Bằng 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
Xuất bản năm Am J Hum Genet (2017)

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

Bằng 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.
Được phát hành 2013

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

Bằng 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.
Xuất bản năm Proc Natl Acad Sci U S A (2020)

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Bằng 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.
Được phát hành 2001

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

Bằng 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.
Xuất bản năm Nat Commun (2015)

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

Bằng 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.
Xuất bản năm Nat Commun (2016)

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Bằng Latour, Brooke L., Van De Weghe, Julie C., Rusterholz, Tamara D.S., Letteboer, Stef J.F., Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E., van Reeuwijk, Jeroen, van Beersum, Sylvia E.C., Miller, Caitlin V., Dempsey, Jennifer C., Morsy, Heba, Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephan C.F., Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A., Alkuraya, Fowzan S., Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan
Xuất bản năm J Clin Invest (2020)

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Bằng Sanders, Anna A. W. M., de Vrieze, Erik, Alazami, Anas M., Alzahrani, Fatema, Malarkey, Erik B., Sorusch, Nasrin, Tebbe, Lars, Kuhns, Stefanie, van Dam, Teunis J. P., Alhashem, Amal, Tabarki, Brahim, Lu, Qianhao, Lambacher, Nils J., Kennedy, Julie E., Bowie, Rachel V., Hetterschijt, Lisette, van Beersum, Sylvia, van Reeuwijk, Jeroen, Boldt, Karsten, Kremer, Hannie, Kesterson, Robert A., Monies, Dorota, Abouelhoda, Mohamed, Roepman, Ronald, Huynen, Martijn H., Ueffing, Marius, Russell, Rob B., Wolfrum, Uwe, Yoder, Bradley K., van Wijk, Erwin, Alkuraya, Fowzan S., Blacque, Oliver E.
Xuất bản năm Genome Biol (2015)

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Bằng 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
Được phát hành 2008

CiliaCarta: An integrated and validated compendium of ciliary genes

Bằng 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.
Xuất bản năm PLoS One (2019)

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

Bằng 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
Xuất bản năm Nat Commun (2016)