Janneke J.C. van Lith-Verhoeven

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

Alberta A. H. J. Thiadens, Anneke I. den Hollander, Susanne Roosing et al. · The American Journal of Human Genetics · 2009 · 213 citations · Full text

Photoreceptor Cell, Molecular Neuroscience, Ophthalmology +6

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 · 130 citations · Full text

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 · 75 citations · Full text

Lysosomal Membrane Protein, Mendelian Disorder, Genetic Disorder +9

Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

Alberta A. H. J. Thiadens, Susanne Roosing, Rob W.J. Collin et al. · Ophthalmology · 2010 · 71 citations

Developmental Biology, Progressive Cone Dystrophy, Pathology +6

The Benign Concentric Annular Macular Dystrophy Locus Maps to 6p12.3-q16

Janneke J.C. van Lith-Verhoeven, Carel B. Hoyng, Bellinda van den Helm et al. · Investigative Ophthalmology & Visual Science · 2003 · 48 citations