Susanne Roosing
Radboud University Nijmegen(NL)University Medical Center(US)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, RNA regulation and disease, Genetic and Kidney Cyst Diseases, Advanced biosensing and bioanalysis techniques
Most-Cited Works
- → An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes(2015)245 cited
- → Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders(2009)213 cited
- → Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia(2015)212 cited
- → A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia(2012)179 cited
- → Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography(2010)176 cited
- → Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome(2007)157 cited