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 · 452 citations

Life Sciences, Genetics, Molecular Biology +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 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

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 · 215 citations · Full text

Medicine, Molecular Genetics, Neuroscience +13

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 · 181 citations · Full text

Medicine, Ophthalmology, Vision Science +17

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 · 149 citations

Medicine, Genetics, Ophthalmology +12