Dorien J.R. van de Pol

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

Anneke I. den Hollander, Jacoline B. ten Brink, Yvette J.M. de Kok et al. · Nature Genetics · 1999 · 470 citations

Biology, Developmental Biology, Genetics +6

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 et al. · Nature · 1990 · 332 citations

Developmental Biology, Xenotransplantation, Genetic Disorder +7

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

Alessandra Maugeri, Marc A. van Driel, Dorien J.R. van de Pol et al. · The American Journal of Human Genetics · 1999 · 259 citations · Full text

Mendelian Disorder, Genetic Disorder, Abcr Gene +10

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

José A. J. M. van den Hurk, Dorien J.R. van de Pol, Bernd Wissinger et al. · Human Genetics · 2003 · 105 citations

Biology, Mendelian Disorder, Cytogenetics +9

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes

Frans P.M. Cremers, Dorien J.R. van de Pol, P.J. Diergaarde et al. · Genomics · 1989 · 94 citations

Mendelian Disorder, Physical Fine Mapping, Genetic Disorder +7