Mary J. van Schooneveld

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Anna Richards, Arn M. J. M. van den Maagdenberg, Joanna C. Jen et al. · Nature Genetics · 2007 · 444 citations

Ocular Disease, C-terminal Truncations, Retina +8

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

Anneke I. den Hollander, John R. Heckenlively, L. Ingeborgh van den Born et al. · The American Journal of Human Genetics · 2001 · 361 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +10

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

Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography

Alberta A. H. J. Thiadens, Ville Somervuo, L. Ingeborgh van den Born et al. · Investigative Ophthalmology & Visual Science · 2010 · 175 citations · Full text

Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness

Mieke M. C. Bijveld, Ralph J. Florijn, Arthur A. Bergen et al. · Ophthalmology · 2013 · 147 citations

Sleep, Ocular Disease, Ophthalmology +4