Frans P.M. Cremers

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

Robert E. MacLaren, Markus Groppe, Alun R. Barnard et al. · The Lancet · 2014 · 769 citations · Full text

Phase 1/2, Gene Therapies, Retinal Gene Therapy +7

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

Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer et al. · The American Journal of Human Genetics · 2006 · 670 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +7

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

Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene <i>POU3F4</i>

Yvette J.M. de Kok, Silvère M. van der Maarel, Maria Bitner‐Glindzicz et al. · Science · 1995 · 446 citations · Full text

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

Uwe Schwahn, Steffen Lenzner, Juan Dong et al. · Nature Genetics · 1998 · 381 citations

Natural Sciences, Genetics, Genomic Mechanism +10