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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: kortum f. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec.
Stingl K, Kempf M, Bartz-Schmidt KU, Dimopoulos S, Reichel F, Jung R, Kelbsch C, Kohl S, Kortüm FC, Nasser F, Peters T, Wilhelm B, Wissinger B, Wozar F, Zrenner E, Fischer MD, Stingl K. Stingl K, et al. Among authors: kortum fc. Br J Ophthalmol. 2022 Jun;106(6):831-838. doi: 10.1136/bjophthalmol-2020-318286. Epub 2021 Jan 20. Br J Ophthalmol. 2022. PMID: 33472769 Free PMC article.
Evaluation of Local Rod and Cone Function in Stargardt Disease.
Stingl K, Hoyng C, Kempf M, Kohl S, Jung R, Righetti G, Kühlewein L, Pohl L, Kortüm F, Kelbsch C, Wilhelm B, Peters T, Stingl K; SORAPRAZAN consortium. Stingl K, et al. Among authors: kortum f. Invest Ophthalmol Vis Sci. 2022 Mar 2;63(3):6. doi: 10.1167/iovs.63.3.6. Invest Ophthalmol Vis Sci. 2022. PMID: 35262734 Free PMC article.
Therapy with voretigene neparvovec. How to measure success?
Stingl K, Kempf M, Jung R, Kortüm F, Righetti G, Reith M, Dimopoulos S, Ott S, Kohl S, Stingl K. Stingl K, et al. Among authors: kortum f. Prog Retin Eye Res. 2023 Jan;92:101115. doi: 10.1016/j.preteyeres.2022.101115. Epub 2022 Sep 10. Prog Retin Eye Res. 2023. PMID: 36096933 Free article. Review.
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.
Kelbsch C, Kempf M, Jung R, Kortüm F, Reith M, Kuehlewein L, Kohl S, Strasser T, Peters T, Wilhelm H, Wilhelm B, Stingl K, Stingl K. Kelbsch C, et al. Among authors: kortum f. Invest Ophthalmol Vis Sci. 2023 Aug 1;64(11):18. doi: 10.1167/iovs.64.11.18. Invest Ophthalmol Vis Sci. 2023. PMID: 37578425 Free PMC article.
59 results