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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: pohl l. 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.
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: pohl l. 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.
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Jurkute N, Cancellieri F, Pohl L, Li CHZ, Heaton RA, Reurink J, Bellingham J, Quinodoz M, Yioti G, Stefaniotou M, Weener M, Zuleger T, Haack TB, Stingl K; Genomics England Research Consortium; Hoyng CB, Mahroo OA, Hargreaves I, Raymond FL, Michaelides M, Rivolta C, Kohl S, Roosing S, Webster AR, Arno G. Jurkute N, et al. Among authors: pohl l. NPJ Genom Med. 2022 Oct 20;7(1):60. doi: 10.1038/s41525-022-00330-z. NPJ Genom Med. 2022. PMID: 36266294 Free PMC article.
Development of retinal atrophy after subretinal gene therapy with voretigene neparvovec.
Reichel FF, Seitz I, Wozar F, Dimopoulos S, Jung R, Kempf M, Kohl S, Kortüm FC, Ott S, Pohl L, Stingl K, Bartz-Schmidt KU, Stingl K, Fischer MD. Reichel FF, et al. Among authors: pohl l. Br J Ophthalmol. 2023 Sep;107(9):1331-1335. doi: 10.1136/bjophthalmol-2021-321023. Epub 2022 May 24. Br J Ophthalmol. 2023. PMID: 35609955
Long-term outcomes of autologous platelet treatment for optic disc pit maculopathy.
Gklavas K, Athanasiou A, Neubauer J, Lilou E, Pohl L, Bartz-Schmidt KU, Dimopoulos S. Gklavas K, et al. Among authors: pohl l. Graefes Arch Clin Exp Ophthalmol. 2023 Nov;261(11):3177-3185. doi: 10.1007/s00417-023-06159-1. Epub 2023 Jul 4. Graefes Arch Clin Exp Ophthalmol. 2023. PMID: 37401935 Free PMC article.
Impurities in Drug Vials Intended for Intravitreal Medication.
Pohl L, Strudel L, Dimopoulos S, Ziemssen F. Pohl L, et al. Case Rep Ophthalmol Med. 2020 Dec 2;2020:8824585. doi: 10.1155/2020/8824585. eCollection 2020. Case Rep Ophthalmol Med. 2020. PMID: 34055435 Free PMC article.
219 results