C.B. Hoyng

Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease

S. Gerber, Jean‐Michel Rozet, T.J.R. van de Pol et al. · Genomics · 1998 · 78 citations

Medicine, Genetics, Molecular Genetics +8

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

B. Jeroen Klevering, Marjolein van Driel, Dorien J.R. van de Pol et al. · British Journal of Ophthalmology · 1999 · 48 citations · Full text

Medicine, Genetics, Ophthalmology +16

Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13)

Janneke J.C. van Lith-Verhoeven, Saskia D. van der Velde-Visser, Melanie M. Sohocki et al. · Ophthalmic Genetics · 2002 · 31 citations

Life Sciences, Genetics, Ophthalmology +16

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

Johannes P. H. van de Ven, Sara C. Nilsson, Perciliz L. Tan et al. · Molecular Immunology · 2013 · 10 citations

Medicine, Genetics, Ophthalmology +13