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Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S. Felden J, et al. Among authors: kessel l. Hum Mutat. 2019 Aug;40(8):1145-1155. doi: 10.1002/humu.23768. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31058429
Oliver McFarlane syndrome: two new cases and a review of the literature.
Lisbjerg K, Andersen MKG, Bertelsen M, Brost AG, Buchvald FF, Jensen RB, Bisgaard AM, Rosenberg T, Tümer Z, Kessel L. Lisbjerg K, et al. Among authors: kessel l. Ophthalmic Genet. 2021 Aug;42(4):464-473. doi: 10.1080/13816810.2021.1904419. Epub 2021 Apr 5. Ophthalmic Genet. 2021. PMID: 33818269 Review.
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Among authors: kessel l. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.
Ametropia and Emmetropization in CNGB3 Achromatopsia.
Andersen MKG, Kessel L. Andersen MKG, et al. Among authors: kessel l. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):10. doi: 10.1167/iovs.62.2.10. Invest Ophthalmol Vis Sci. 2021. PMID: 33560291 Free PMC article.
Phenotypic characteristics of Danish patients with achromatopsia.
Andersen MKG, Bertelsen M, Gundestrup S, Grønskov K, Kessel L. Andersen MKG, et al. Among authors: kessel l. Acta Ophthalmol. 2024 Sep;102(6):e893-e905. doi: 10.1111/aos.16656. Epub 2024 Feb 13. Acta Ophthalmol. 2024. PMID: 38348755
200 results