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American Journal of Ophthalmology|November 18, 2019
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric StudyBritta Feldhaus, Nicole Weisschuh, Fadi Nasser, et al.Genes|July 27, 2022
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German CohortFadi Nasser, Susanne Kohl, Anne Kurtenbach, et al.Human Mutation|June 13, 2020
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year periodNicole Weisschuh, Carolin D Obermaier, Florian Battke, et al.American Journal of Ophthalmology|June 12, 2018
Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12Etienne M Schönbach, Rupert W Strauss, Xiangrong Kong, et al.The British Journal of Ophthalmology|January 21, 2021
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovecKrunoslav Stingl, Melanie Kempf, Karl U Bartz-Schmidt, et al.International Journal of Molecular Sciences|March 6, 2021
Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis PigmentosaLaura Kuehlewein, Ditta Zobor, Katarina Stingl, et al.Ophthalmology. Retina|May 4, 2019
Fixation Location and Stability Using the MP-1 Microperimeter in Stargardt Disease: ProgStar Report No. 3Etienne M Schönbach, Mohamed A Ibrahim, Rupert W Strauss, et al.JAMA Ophthalmology|October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation TrialLaura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.Journal of Medical Genetics|September 21, 2023
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesNicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.American Journal of Ophthalmology|June 8, 2025
Natural History of Autosomal Recessive IMPG2-Associated Retinal DystrophyMichalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, et al.Pageof 3