Ditta Zobor

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 · 216 citations

Life Sciences, Genetics, Neuroscience +14

Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia

M. Dominik Fischer, Stylianos Michalakis, Barbara Wilhelm et al. · JAMA Ophthalmology · 2020 · 178 citations · Full text

Medicine, Neurology, Ophthalmology +17

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period

Nicole Weisschuh, Carolin D. Obermaier, Florian Battke et al. · Human Mutation · 2020 · 136 citations · Full text

Medicine, Genetics, Molecular Genetics +17

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Crystel Bonnet, Zied Riahi, Sandra Chantot‐Bastaraud et al. · European Journal of Human Genetics · 2016 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial

Felix F. Reichel, Stylianos Michalakis, Barbara Wilhelm et al. · British Journal of Ophthalmology · 2021 · 70 citations

Medicine, Neurology, Ophthalmology +15