Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Gene therapy for RAB28: What can we learn from zebrafish?
Moran AL et al.
Vision Research, 2023
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.
Jespersgaard C et al.
Investigative Ophthalmology & Visual Science, 2020
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N et al.
Plos One, 2016
Nonsense suppression therapies in ocular genetic diseases.
Wang X et al.
Cellular and Molecular Life Sciences : Cmls, 2015
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
Roosing S et al.
American Journal of Human Genetics, 2013
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