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Ronald Roepman

Short CV

1994–2000 PhD student, Department of Human Genetics, Radboud University Nijmegen Medical Centre / Nijmegen Centre for Molecular Life Sciences (RUNMC/NCMLS).
1997–1998 Research fellow (KNAW Ter Meulen Fonds exchange fellowship); Department of Toxicology and Pharmacology, Medical College of Wisconsin, Milwaukee, USA.
2000–2002 Post-doctoral fellow, Department of Human Genetics, (RUNMC/NCMLS).
2002–2007 Assistant professor (5-year tenure track), Head Functional Genomics of the Retina research group, Department of Human Genetics, (RUNMC/NCMLS).
December 2005 - February 2006 Research fellow (Pro Retina Germany Research fellowship); GSF - Institute of Human Genetics, Neuherberg/Munich, Germany.
2007-2009 Assistant professor (tenured position), Head Functional Genomics of the Retina research group, Department of Human Genetics, (RUNMC/NCMLS).
2008 Principal investigator, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences.
2009-ongoing Associate professor, Head molecular biology of ciliopathies research group, Department of Human Genetics, (RUNMC/NCMLS).
2010 Coordinator EC FP7 project “SYSCILIA - A systems biology approach to dissect cilia function and its disruption in human genetic disease.”


CV of Ronald Roepman [pdf]

Ronald Roepman
Ronald Roepman

Research Group

Molecular Biology of Ciliopathies

[more information]


Radboud University Nijmegen Medical Centre

Department of Human Genetics,
Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease

PO Box 9101

6500 HB Nijmegen
The Netherlands

Phone: +31-24-3610487
Fax: +31-24-3668752


Human Genetics Nijmegen

Scientifc Interest

    • Molecular biology of ciliopathies
    • Functional genomics of the retina
    • Systems biology and dynamic modeling
    • Molecular mechanisms of inherited retinal degenerations
    • (Assembly of) protein networks


  • Association for Research in Vision and Ophthalmology (ARVO)
  • American Society of Human Genetics (ASHG)

Further Activities

  • Principal investigator, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Principal investigator, Nijmegen Centre for Molecular Life Sciences (NCMLS).
  • Expert reviewer of manuscripts for international journals; Nature Genetics, the American Journal of Human Genetics, the Journal of Clinical Investigation, Proceedings of the National Academy of Sciences of the USA, Human Molecular Genetics, Human Mutation, Clinical Genetics, Investigative Ophthalmology and Visual Science, Molecular Vision, Experimental Eye Research, Pediatric Nephrology, the Journal of Neuroscience, the Journal of Neurochemistry, the European Journal of Cell Biology.
  • Reviewer of research project proposals for (inter)national funding agencies for blindness research 

Key Publications

  1. Kersten, F., van Wijk, E., van Reeuwijk, J., van der Zwaag, B., Maerker, T., Peters, T., Katsanis, N., Wolfrum, U., Keunen, J., Roepman, R.* and Kremer, H.* (2010)
    Whirlin associates with the Cav1.3 ({alpha}1D) channels in photoreceptors, defining a novel member of the Usher protein network.
    Invest Ophthalmol Vis Sci., 51, 2338-2346. *equal senior authors
  2. Boldt, K., van Reeuwijk, J., Gloeckner, C.J., Ueffing, M., and Roepman, R. (2009)
    Tandem affinity purification of ciliopathy-associated protein complexes.
    Methods Cell Biol., 91, 143-160.
  3. Coene, K.L.M.*, Roepman, R.*#, Doherty, D., Afroze, B., Kroes, H.Y., Letteboer, S.J.F., Ngu, H.L., Budny, B., van Wijk, E., Gorden, N., Azhimi, M., Thauvin-Robinet, C., Veltman, J.A., Boink, M., Kleefstra, T., Cremers, F.P.M., van Bokhoven, H., and de Brouwer, A.P.M. (2009)
    OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
    Am. J. Hum. Genet., 85, 465-481*Equal 1st authors #Corresponding author
  4. van Wijk, E., Kersten, F.F.J., Kartono, A., Mans, D.A., Brandwijk, K., Letteboer, S.J., Peters, T.A., Märker, T., Yan, X., Cremers, C.W.R.J., Cremers, F.P.M., Wolfrum, U., Roepman, R.*, and Kremer, H.* (2009).
    Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.
    Hum. Mol. Genet., 18, 51-64.*equal senior authors
  5. Gorden, N.*, Arts, H.H.*#, Parisi, M.A., Coene, K.L., Letteboer, S.J.F., van Beersum, S.E.C., Mans, D.A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A.F., Ozyurek, H., Dibooglu, S., Otto, E.A., Liu, Y., Davis, E.E., Hutter, C.M., Bammler, T.K., Farin, F.M., Dorschner, M., Topçu, M., Zackai, E.H., Rosenthal, P., Owens, K.N., Katsanis, N., Vincent, J.B., Hildebrandt, F., Rubel, E.W., Raible, D.W., Knoers, N.V.A.M., Chance, P.F., Roepman, R., Moens, C.B., Glass, I.A., and Doherty, D. (2008).
    CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
    Am. J. Hum. Genet., 83, 559-571.*Equal 1st authors; #Roepman group.
  6. Arts, H.H., Doherty, D., van Beersum, S.E., Parisi, M.A., Letteboer, S.J.F., Gorden, N.T., Peters, T.A., Märker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F.M., Kroes, H.Y., Wolfrum, U., Brunner, H.G., Cremers, F.P.M., Glass, I.A., Knoers, N.V.A.M., and Roepman, R. (2007).
    Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
    Nat. Genet., 39, 882-888.
  7. den Hollander, A.I., Koenekoop, R.K., Mohamed, M.D., Arts, H.H., Boldt, K., Towns, K.V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., Ivings, L., Williams, G.A., Springell, K., Woods, C.G., Jafri, H., Rashid, Y., Strom, T.M., van der Zwaag, B., Gosens, I., Kersten, F.F.J., van Wijk, E., Veltman, J.A., Zonneveld, M.N., van Beersum, S.E., Maumenee, I.H., Wolfrum, U., Cheetham, M.E., Ueffing, M., Cremers, F.P.M., Inglehearn, C.F., and Roepman, R. (2007).
    Mutations in LCA5, encoding the novel ciliary protein lebercilin, cause Leber congenital amaurosis.
    Nat. Genet., 39, 889-895.
  8. Gosens, I, van Wijk, E., Kersten, F.F., Krieger, E., van der Zwaag, B., Märker, T., Letteboer, S.J.F., Dusseljee, S., Peters, T., Spierenburg, H.A., Punte, I.M., Wolfrum, U., Cremers, F.P.M., Kremer, H., and Roepman, R. (2007).
    MPP1 links the Usher protein network and the Crumbs protein complex in the retina.
    Hum. Mol. Genet., 16, 1993-2003.
  9. Roepman, R., Letteboer, S.J.F., Arts, H.H., van Beersum, S.E.C., Lu, X., Krieger, E., Ferreira, P.A., and Cremers, F.P.M. (2005).
    Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
    Proc. Natl. Acad. Sci. USA, 102, 18520-18525.
  10. Roepman, R., Bauer, D., Rosenberg, T., van Duynhoven, G., van de Vosse., E., Platzer, M., Rosenthal, A., Ropers H.-H., Cremers F.P.M., and Berger, W. (1996).
    Positional cloning of the gene for X-linked retinitis pigmentosa: homology with the guanine-nucleotide-exchange factor RCC1.
    Hum. Mol. Genet., 5, 1035-1041.

Research Groups