Marijke N. Zonneveld-Vrieling

Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

Camiel J.F. Boon, Mary J. van Schooneveld, A. I den Hollander et al. · British Journal of Ophthalmology · 2007 · 134 citations · Full text

Medicine, Genetics, Ophthalmology +16

Central Areolar Choroidal Dystrophy

Camiel J.F. Boon, B. Jeroen Klevering, Frans P.M. Cremers et al. · Ophthalmology · 2009 · 117 citations

Medicine, Neurology, Neuropathology +4

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Susanne Roosing, Ideke J.C. Lamers, Erik de Vrieze et al. · The American Journal of Human Genetics · 2014 · 82 citations · Full text

Medicine, Genetics, Ophthalmology +17

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

Susanne Roosing, L. Ingeborgh van den Born, Riccardo Sangermano et al. · Ophthalmology · 2014 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Heterozygous Deep-Intronic Variants and Deletions in<i>ABCA4</i>in Persons with Retinal Dystrophies and One Exonic<i>ABCA4</i>Variant

Nathalie M. Bax, Riccardo Sangermano, Susanne Roosing et al. · Human Mutation · 2014 · 77 citations

Life Sciences, Genetics, Molecular Genetics +17