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Evren Gumus & Armagan Ozgur. (2020) A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. Fetal and Pediatric Pathology 39:3, pages 251-258.
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W. Bailey Glen$suffix/text()$suffix/text(), M. Millicent W. Peterseim, Ramses Badilla, Iya Znoyko, Andre Bourg, Robert Wilson, Gary Hardiman, Daynna Wolff & Joaquin Martinez. (2019) A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. Ophthalmic Genetics 40:2, pages 110-117.
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Virginia Miraldi Utz, Razek Georges Coussa, Fares Antaki & Elias I. Traboulsi. (2018) Gene therapy for RPE65-related retinal disease. Ophthalmic Genetics 39:6, pages 671-677.
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Bart P. LeroyDavid G. BirchJacque L. DuncanByron L. LamRobert K. KoenekoopFernanda B. O. PortoStephen R. Russell & Aniz Girach. (2021) LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED. Retina 41:5, pages 898-907.
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Seo-Hee Cho, Ankur Nahar, Ji Hyang Kim, Matthew Lee, Zbynek Kozmik & Seonhee Kim. (2019) Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8. Developmental Biology 453:2, pages 141-154.
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