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Frans Cremers

Prof. Dr. Frans P.M. Cremers is a principal investigator at the Nijmegen Centre for Molecular Life Sciences. Frans Cremers is head of the Division of Molecular Genetics. He is a full professor in Molecular Biology of Genetic Eye Diseases and director of the international master programme Molecular Mechanisms of Disease.

Short CV

F. Cremers performed his MSc (1984; Biology) and PhD (1991; Cloning of the gene for choroideremia) in Nijmegen, the Netherlands. He was awarded a prestigious 5-yr fellowship (1991 – 1996) from the Royal Academy of Arts and Sciences and performed a 1-year  postdoctoral study with drs. Seabra, Brown and Goldstein at the Southwestern Medical School, in Dallas, TX

He was appointed head of the Division of Molecular Genetics in 1991, assistant professor in 1996, associate professor in 2000, and full professor in ophthalmogenetics in 2004. He was appointed director of a new research master entitled Molecular Mechanisms of Disease in 2004.

F. Cremers has identified the first genes for inherited blindness (choroideremia) and deafness (DFN3). In addition he was involved in the identification of ~10 retinaldisease genes, with special emphasis on X-linked RP and Leber congenital amaurosis.


CV of Frans Cremers [pdf]

Scientifc Interest

  • Identification of novel retinal dystrophy disease genes
  • Developing cost-effective molecular diagnostics for retinal dystrophies
  • Elucidating the function of retinal disease genes
  • Establishing genotype-fenotype correlations


  • Association for Research in Vision and Ophthalmology (ARVO)
  • Retina Netherlands
Frans Cremers
Frans Cremers

Research Group



Department of Human Genetics,
Radboud University Nijmegen Medical Centre,
Nijmegen Centre for Molecular Life Sciences

Geert Grooteplein 10
6500 HB Nijmegen
The Netherlands

Phone: +31-24-3614017
Fax: +31-24-3668752

Email: f.cremers[at]


Key Publications

  1. Boon, C. J. F., Klevering, B. J., Hoyng, C. B., Zonneveld-Vrieling, M. N., Nabuurs, S. B., Blokland, E., Cremers, F. P. M., & den Hollander, A. I.
    Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
    Am. J. Hum. Genet. 82, 516-523, 2008.
  2. 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. 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. C., Maumenee, I. H., Wolfrum, U., Cheetham, M. E., Ueffing, M., *Cremers, F. P. M., *Inglehearn, C. F. & *Roepman, R.
    Mutations in  LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
    Nat. Genet. 39, 889-895, 2007. (*Joint senior authors)
  3. van den Hurk, J. A. J. M., Meij, I. C., del Carmen Seleme, M., Kano, H., Nikopoulos, K., Hoefsloot, L. H., Sistermans, E. A., de Wijs, I., Mukhopadhyay, A., Plomp, A. S. de Jong, P. T. V. M., Kazazian, H. H. & Cremers, F. P. M.
    L1 retro-transposition can occur early in human embryonic development. 
    Hum. Mol. Genet. 16, 1587-1592, 2007.
  4. den Hollander, A. I., Koenekoop, R. K., Yzer, S., Lopez, I., Arends, M. L., Voesenek, K. E. J., Zonneveld, M. N., Strom, T. M., Meitinger, T., Brunner, H. G. Hoyng, C. B., van den Born, L. I., Rohrschneider, K. & Cremers, F. P. M.
    Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
    Am. J. Hum. Genet. 79, 556-561, 2006
  5. Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., De Brouwer, A. P., van Nouhuys, C. E., Boon, C. J., Perveen, R., Zegers, H. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser SD, Brunner, H. G., Black, G. C., Hoyng, C. B. & Cremers, F. P. M.
    Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
    Invest. Ophthalmol. Vis. Sci. 47, 3565-3572, 2006
  6. Roepman, R., Letteboer, S. J. F., Arts, H. H., van Beersum, S. E. C., Lu, X., Krieger, E., Ferreira, P. A., & Cremers, F. P. M.
    Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
    Proc. Natl. Acad. Sci. U.S.A. 102, 18520-18525, 2005.
  7. Maugeri, A., Flothmann, K., Hemmrich, N., Ingvast, S., Jorge, P., Paloma, E., Patel, R., Rozet, J. M., Tammur, J., Testa, F., Balcells, S., Bird, A. C., Brunner, H. G., Hoyng, C. B., Metspalu, A., Simonelli, F., Allikmets, R., Bhattacharya, S. S., D'Urso, M., Gonzalez-Duarte, R., Kaplan, J., te Meerman, G. J., Santos, R., Schwartz, M., van Camp, G., Wadelius, C., Weber, B. H. & Cremers, F. P. M.
    The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
    Eur. J. Hum. Genet. 10, 197-203, 2002.
  8. den Hollander, A. I., Heckenlively, J. R., van den Born, L. I., de Kok, Y. J. M., van der Velde-Visser, S. D., Kellner, U., Jurklies, B., van Schooneveld, M. J., Blankenagel, A., Rohrschneider, K., Wissinger, B., Cruysberg, J. R. M., Deutman, A. F., Brunner, H. G., Apfelstedt-Sylla, E., Hoyng, C. B. & Cremers, F. P. M.
    Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
    Am. J. Hum. Genet. 69, 198-203, 2001.
  9. Maugeri, A., Klevering, B. J., Rohrschneider, K., Blankenagel, A., Brunner, H. G., Deutman, A. F., Hoyng, C. B. & Cremers, F. P. M.
    Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy (2000)
    Am. J. Hum. Genet. 67, 960-966, 2000.
  10. den Hollander, A. I., ten Brink, J. B., de Kok, Y. J. M., van Soest, S., van den Born, L. I., van Driel, M. A., van de Pol, T. J. R., Payne, A. M., Bhattacharya, S. S., Kellner, U., Hoyng, C. B., Westerveld, A., Brunner, H. G., Bleeker-Wagemakers, E. M., Deutman, A. F., Heckenlively, J. R., Cremers, F. P. M. & Bergen, A. A. B.
    Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
    Nature Genet 23, 217-221, 1999.

Research Groups