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Molecular Genetics & Genomic Medicine|April 6, 2019
The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophySanne K Verbakel, Zeinab Fadaie, B Jeroen Klevering, et al.Acta Ophthalmologica|February 16, 2021
Allogeneic and autologous serum eye drops: a pilot double-blind randomized crossover trialPieter F van der Meer, Sanne K Verbakel, Áine Honohan, et al.Journal of Medical Genetics|August 19, 2018
Homozygous variants in <i>KIAA1549</i>, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosaSuzanne E de Bruijn, Sanne K Verbakel, Erik de Vrieze, et al.Investigative Ophthalmology & Visual Science|October 5, 2016
Carbonic Anhydrase Inhibitors for the Treatment of Cystic Macular Lesions in Children With X-Linked Juvenile RetinoschisisSanne K Verbakel, Johannes P H van de Ven, Linda M P Le Blanc, et al.Progress in Retinal and Eye Research|March 30, 2018
Non-syndromic retinitis pigmentosaSanne K Verbakel, Ramon A C van Huet, Camiel J F Boon, et al.Plos One|June 4, 2016
Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular DegenerationNicole T M Saksens, Yara T E Lechanteur, Sanne K Verbakel, et al.Journal of Medical Genetics|August 21, 2020
Pathogenic variants in <i>IMPG1</i> cause autosomal dominant and autosomal recessive retinitis pigmentosaGuillaume Olivier, Marta Corton, Daniela Intartaglia, et al.Investigative Ophthalmology & Visual Science|March 27, 2019
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease SpectrumSanne K Verbakel, Ramon A C van Huet, Anneke I den Hollander, et al.Pageof 1