Artificial intelligence: A powerful paradigm for scientific research
Xu, Yongjun, Liu, Xin, Cao, Xin, Huang, Changping, Liu, Enke, Qian, Sen, Liu, Xingchen, Wu, Yanjun, Dong, Fengliang, Qiu, Cheng-Wei, Qiu, Junjun, Hua, Keqin, Su, Wentao, Wu, Jian, Xu, Huiyu, Han, Yong, Fu, Chenguang, Yin, Zhigang, Liu, Miao, Roepman, Ronald, Dietmann, Sabine, Virta, Marko, Kengara, Fredrick, Zhang, Ze, Zhang, Lifu, Zhao, Taolan, Dai, Ji, Yang, Jialiang, Lan, Liang, Luo, Ming, Liu, Zhaofeng, An, Tao, Zhang, Bin, He, Xiao, Cong, Shan, Liu, Xiaohong, Zhang, Wei, Lewis, James P., Tiedje, James M., Wang, Qi, An, Zhulin, Wang, Fei, Zhang, Libo, Huang, Tao, Lu, Chuan, Cai, Zhipeng, Wang, Fang, Zhang, Jiabao
Published in Innovation (New York, NY) (28.11.2021)
Published in Innovation (New York, NY) (28.11.2021)
Get full text
Journal Article
DYX1C1 is required for axonemal dynein assembly and ciliary motility
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
Published in Nature genetics (01.09.2013)
Published in Nature genetics (01.09.2013)
Get full text
Journal Article
Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia
Vriend, Jelle, Peters, Janny G.P., Nieskens, Tom T.G., Škovroňová, Renata, Blaimschein, Nina, Schmidts, Miriam, Roepman, Ronald, Schirris, Tom J.J., Russel, Frans G.M., Masereeuw, Rosalinde, Wilmer, Martijn J.
Published in Biochimica et biophysica acta. General subjects (01.01.2020)
Published in Biochimica et biophysica acta. General subjects (01.01.2020)
Get full text
Journal Article
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
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.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
Get full text
Journal Article
Polycystic liver disease: ductal plate malformation and the primary cilium
Wills, Edgar S, Roepman, Ronald, Drenth, Joost P.H
Published in Trends in molecular medicine (01.05.2014)
Published in Trends in molecular medicine (01.05.2014)
Get full text
Journal Article
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Hoff, Sylvia, Halbritter, Jan, Epting, Daniel, Frank, Valeska, Nguyen, Thanh-Minh T, van Reeuwijk, Jeroen, Boehlke, Christopher, Schell, Christoph, Yasunaga, Takayuki, Helmstädter, Martin, Mergen, Miriam, Filhol, Emilie, Boldt, Karsten, Horn, Nicola, Ueffing, Marius, Otto, Edgar A, Eisenberger, Tobias, Elting, Mariet W, van Wijk, Joanna A E, Bockenhauer, Detlef, Sebire, Neil J, Rittig, Søren, Vyberg, Mogens, Ring, Troels, Pohl, Martin, Pape, Lars, Neuhaus, Thomas J, Elshakhs, Neveen A Soliman, Koon, Sarah J, Harris, Peter C, Grahammer, Florian, Huber, Tobias B, Kuehn, E Wolfgang, Kramer-Zucker, Albrecht, Bolz, Hanno J, Roepman, Ronald, Saunier, Sophie, Walz, Gerd, Hildebrandt, Friedhelm, Bergmann, Carsten, Lienkamp, Soeren S
Published in Nature genetics (01.08.2013)
Published in Nature genetics (01.08.2013)
Get full text
Journal Article
Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation
Moya-Molina, Marina, Dorgau, Birthe, Flood, Emily, Letteboer, Stef J. F., Lorentzen, Esben, Coxhead, Jonathan, Smith, Graham, Roepman, Ronald, Nagaraja Grellscheid, Sushma, Armstrong, Lyle, Lako, Majlinda
Published in Cell death & disease (01.10.2024)
Published in Cell death & disease (01.10.2024)
Get full text
Journal Article
Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9
Dyke, Emma, Bijnagte-Schoenmaker, Chantal, Wu, Ka Man, Oudakker, Astrid, Roepman, Ronald, Nadif Kasri, Nael
Published in Stem cell research (01.04.2023)
Published in Stem cell research (01.04.2023)
Get full text
Journal Article
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Oud, Machteld M., Tuijnenburg, Paul, Hempel, Maja, van Vlies, Naomi, Ren, Zemin, Ferdinandusse, Sacha, Jansen, Machiel H., Santer, René, Johannsen, Jessika, Bacchelli, Chiara, Alders, Marielle, Li, Rui, Davies, Rosalind, Dupuis, Lucie, Cale, Catherine M., Wanders, Ronald J.A., Pals, Steven T., Ocaka, Louise, James, Chela, Müller, Ingo, Lehmberg, Kai, Strom, Tim, Engels, Hartmut, Williams, Hywel J., Beales, Phil, Roepman, Ronald, Dias, Patricia, Brunner, Han G., Cobben, Jan-Maarten, Hall, Christine, Hartley, Taila, Le Quesne Stabej, Polona, Mendoza-Londono, Roberto, Davies, E. Graham, de Sousa, Sérgio B., Lessel, Davor, Arts, Heleen H., Kuijpers, Taco W.
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
Get full text
Journal Article
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
Doornbos, Cenna, van Beek, Ronald, Bongers, Ernie M H F, Lugtenberg, Dorien, Klaren, Peter H M, Vissers, Lisenka E L M, Roepman, Ronald, Oud, Machteld M
Published in European journal of human genetics : EJHG (01.11.2021)
Published in European journal of human genetics : EJHG (01.11.2021)
Get full text
Journal Article
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
Maerker, Tina, van Wijk, Erwin, Overlack, Nora, Kersten, Ferry F.J., McGee, JoAnn, Goldmann, Tobias, Sehn, Elisabeth, Roepman, Ronald, Walsh, Edward J., Kremer, Hannie, Wolfrum, Uwe
Published in Human molecular genetics (01.01.2008)
Published in Human molecular genetics (01.01.2008)
Get full text
Journal Article
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking
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 in PLoS genetics (01.10.2015)
Published in PLoS genetics (01.10.2015)
Get full text
Journal Article
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
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
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
Get full text
Journal Article
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling
Frikstad, Kari-Anne M., Molinari, Elisa, Thoresen, Marianne, Ramsbottom, Simon A., Hughes, Frances, Letteboer, Stef J.F., Gilani, Sania, Schink, Kay O., Stokke, Trond, Geimer, Stefan, Pedersen, Lotte B., Giles, Rachel H., Akhmanova, Anna, Roepman, Ronald, Sayer, John A., Patzke, Sebastian
Published in Cell reports (Cambridge) (13.08.2019)
Published in Cell reports (Cambridge) (13.08.2019)
Get full text
Journal Article
Novel GANAB variants associated with polycystic liver disease
van de Laarschot, Liyanne F M, Te Morsche, René H M, Hoischen, Alexander, Venselaar, Hanka, Roelofs, Hennie M, Cnossen, Wybrich R, Banales, Jesus M, Roepman, Ronald, Drenth, Joost P H
Published in Orphanet journal of rare diseases (23.10.2020)
Published in Orphanet journal of rare diseases (23.10.2020)
Get full text
Journal Article
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina
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
Published in Human molecular genetics (15.03.2015)
Published in Human molecular genetics (15.03.2015)
Get full text
Journal Article
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
Boldt, Karsten, Mans, Dorus A, Won, Jungyeon, van Reeuwijk, Jeroen, Vogt, Andreas, Kinkl, Norbert, Letteboer, Stef J F, Hicks, Wanda L, Hurd, Ron E, Naggert, Jürgen K, Texier, Yves, den Hollander, Anneke I, Koenekoop, Robert K, Bennett, Jean, Cremers, Frans P M, Gloeckner, Christian J, Nishina, Patsy M, Roepman, Ronald, Ueffing, Marius
Published in The Journal of clinical investigation (01.06.2011)
Published in The Journal of clinical investigation (01.06.2011)
Get full text
Journal Article