Marijke N. Zonneveld

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer et al. · The American Journal of Human Genetics · 2006 · 676 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Next‐generation genetic testing for retinitis pigmentosa

Kornelia Neveling, Rob W.J. Collin, Christian Gilissen et al. · Human Mutation · 2012 · 287 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa et al. · Nature Genetics · 2009 · 268 citations

Medicine, Genetics, Ophthalmology +14

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Anneke I. den Hollander, Robert K. Koenekoop, Moin Mohamed et al. · Nature Genetics · 2007 · 200 citations

Life Sciences, Genetics, Molecular Genetics +6

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

Rob W.J. Collin, Karin W. Littink, B. Jeroen Klevering et al. · The American Journal of Human Genetics · 2008 · 169 citations · Full text

Medicine, Genetics, Molecular Genetics +11