Frans P.M. Cremers

Overview

Best Publications

• Leber congenital amaurosis: genes, proteins and disease mechanisms.

  Anneke I. den Hollander;Ronald Roepman;Robert K. Koenekoop;Frans P.M. Cremers

  1057
  Citations

• Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

  Robert E MacLaren;Robert E MacLaren;Markus Groppe;Markus Groppe;Alun R Barnard;Charles L Cottriall

  869
  Citations

• Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

  Anneke I. den Hollander;Robert K. Koenekoop;Suzanne Yzer;Irma Lopez

  799
  Citations

• Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR

  F.P.M. Cremers;T.J.R. van de Pol;M.A. van Driel;A.I. den Hollander

  624
  Citations

• Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

  Y. J. M. De Kok;S. M. Van Der Maarel;M. Bitner-Glindzicz;I. Huber

  571
  Citations

• Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

  A.I. den Hollander;J.B. ten Brink;Y.J.M. de Kok;S. van Soest

  557
  Citations

• Cloning of a gene that is rearranged in patients with choroideraemia.

  Frans P. M. Cremers;Dorien J. R. van de Pol;Liesbeth P. M. van Kerkhoff;Berend Wieringa

  441
  Citations

• Positional cloning of the gene for X-linked retinitis pigmentosa 2

  U. Schwahn;S. Lenzner;J Dong;S. Feil

  440
  Citations

• A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases

  Kornelia Neveling;Ilse Feenstra;Christian Gilissen;Lies H. Hoefsloot

  430
  Citations

• cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein

  Douglas A. Andres;Miguel C. Seabra;Michael S. Brown;Scott A. Armstrong

  429
  Citations

• Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

  Heleen H Arts;Dan Doherty;Sylvia E C van Beersum;Melissa A Parisi

  421
  Citations

• Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

  Anneke I. den Hollander;John R. Heckenlively;L. Ingeborgh van den Born;Yvette J.M. de Kok

  408
  Citations

• Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

  Yaoqin Gong;Deborah Krakow;Deborah Krakow;Jose Marcelino;Douglas Wilkin

  390
  Citations

• Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

  Alessandra Maugeri;B. Jeroen Klevering;Klaus Rohrschneider;Anita Blankenagel

  369
  Citations

• CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

  Bernd Wissinger;Daphne Gamer;Herbert Jägle;Roberto Giorda

  355
  Citations

• The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

  A. Maugeri;M.A. van Driel;T.J.R. van de Pol;B.J. Klevering

  346
  Citations

• Next-generation genetic testing for retinitis pigmentosa.

  Kornelia Neveling;Rob W.J. Collin;Christian Gilissen;Ramon A.C. van Huet

  339
  Citations

• Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

  Arthur B. McKie;John C. McHale;T. Jeffrey Keen;Emma E. Tarttelin

  333
  Citations

• Isolation of a candidate gene for Norrie disease by positional cloning.

  Berger W;Meindl A;van de Pol Tj;Cremers Fp

  323
  Citations

• Positional cloning of the gene for x-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

  R. Roepman;G. Van Duijnhoven;T. Rosenberg;A. J. L. G. Pinckers

  233
  Citations