Jan-Willem R. Pott

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy

Alberta A. H. J. Thiadens, T. My Lan Phan, Renate C. Zekveld-Vroon et al. · Ophthalmology · 2012 · 136 citations

Clinical Course, Ophthalmology, Degenerative Disease +5

The Common<i>ABCA4</i>Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in<i>trans</i>With Severe Variants

Esmee H. Runhart, Riccardo Sangermano, Stéphanie S. Cornelis et al. · Investigative Ophthalmology & Visual Science · 2018 · 87 citations · Full text

A Novel Nonsense Mutation in<i>CEP290</i>Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype

Karin W. Littink, Jan-Willem R. Pott, Rob W.J. Collin et al. · Investigative Ophthalmology & Visual Science · 2010 · 73 citations · Full text

Ocular Disease, Genetics, Genetic Epidemiology +16

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

Suzanne Yzer, Anneke I. den Hollander, Irma López et al. · PubMed · 2012 · 51 citations · Full text

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic <i>ABCA4</i> Alleles

Esmee H. Runhart, Dyon Valkenburg, Stéphanie S. Cornelis et al. · Investigative Ophthalmology & Visual Science · 2019 · 41 citations · Full text