1. Perdigao, Pedro R L, van der Spuy, Jacqueline. . Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects. In Advances in experimental medicine and biology, 1185, 97-101. doi:10.1007/978-3-030-27378-1_16. https://pubmed.ncbi.nlm.nih.gov/31884595/
2. Sai, Hali, Ollington, Bethany, Rezek, Farah O, Leung, Amy, van der Spuy, Jacqueline. 2024. Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4. In Molecular therapy. Nucleic acids, 35, 102148. doi:10.1016/j.omtn.2024.102148. https://pubmed.ncbi.nlm.nih.gov/38439910/
3. Sacristan-Reviriego, Almudena, van der Spuy, Jacqueline. . The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. In Advances in experimental medicine and biology, 1074, 381-386. doi:10.1007/978-3-319-75402-4_47. https://pubmed.ncbi.nlm.nih.gov/29721967/
4. Zhang, Quan, Sun, Junran, Liu, Zishi, Wang, Fenghua, Sun, Xiaodong. 2024. Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy. In American journal of ophthalmology, 266, 235-247. doi:10.1016/j.ajo.2024.06.013. https://pubmed.ncbi.nlm.nih.gov/38880373/
5. Xu, Ke, Xie, Yue, Sun, Tengyang, Chen, Chunjie, Li, Yang. 2019. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. In The British journal of ophthalmology, 104, 932-937. doi:10.1136/bjophthalmol-2019-314281. https://pubmed.ncbi.nlm.nih.gov/31630094/