Susanne Roosing

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 245 citations · Full text

Ciliopathy Genes, Functional Genomics, Glioma +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

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Susanne Kohl, Ditta Zobor, Wei‐Chieh Chiang et al. · Nature Genetics · 2015 · 211 citations · Full text

Signal Transduction, Disease Mechanism, Genetic Disorder +7

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Susanne Kohl, Frauke Coppieters, Françoise Meire et al. · The American Journal of Human Genetics · 2012 · 179 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

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