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• Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.

  Le Meur G, Lebranchu P, Billaud F, Adjali O, Schmitt S, Bézieau S, Péréon Y, Valabregue R, Ivan C, Darmon C, Moullier P, Rolling F, Weber M. Le Meur G, et al. Mol Ther. 2018 Jan 3;26(1):256-268. doi: 10.1016/j.ymthe.2017.09.014. Epub 2017 Sep 19. Mol Ther. 2018. PMID: 29033008 Free PMC article.
• Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

  Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E. Coppieters F, et al. Hum Mutat. 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336. Hum Mutat. 2010. PMID: 20683928 Free PMC article.
• Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families.

  Cui H, Jin X, Yang QH, Qu LH, Hou BK, Li ZH, Huang HB. Cui H, et al. Int J Ophthalmol. 2022 Dec 18;15(12):1915-1923. doi: 10.18240/ijo.2022.12.04. eCollection 2022. Int J Ophthalmol. 2022. PMID: 36536961 Free PMC article.
• Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.

  Lu L, Wang X, Lo D, Weng J, Liu X, Yang J, He F, Wang Y, Liu X. Lu L, et al. Oncotarget. 2016 Nov 29;7(48):79797-79804. doi: 10.18632/oncotarget.12971. Oncotarget. 2016. PMID: 27806333 Free PMC article.
• Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

  Chassine T, Bocquet B, Daien V, Avila-Fernandez A, Ayuso C, Collin RW, Corton M, Hejtmancik JF, van den Born LI, Klevering BJ, Riazuddin SA, Sendon N, Lacroux A, Meunier I, Hamel CP. Chassine T, et al. Br J Ophthalmol. 2015 Oct;99(10):1360-5. doi: 10.1136/bjophthalmol-2014-306224. Epub 2015 Apr 16. Br J Ophthalmol. 2015. PMID: 25883087 Free PMC article.