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Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|July 25, 2022
Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1Eman Saleh, Monika Grudzinska Pechhacker, Anjali Vig, et al.Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|January 9, 2025
"Blindness" is not a contraindication for voretigene neparvovec-rzyl treatment: a review of 9 casesDeepika C Parameswarappa, Kirk A J Stephenson, Mark Seamone, et al.Human Molecular Genetics|July 13, 2013
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypesYuri V Sergeev, Susan Vitale, Paul A Sieving, et al.NPJ Genomic Medicine|December 22, 2017
A homozygous mutation in the stem II domain of <i>RNU4ATAC</i> causes typical Roifman syndromeYael Dinur Schejter, Adi Ovadia, Roumiana Alexandrova, et al.Human Molecular Genetics|March 25, 2016
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Elise Heon, Gunhee Kim, Sophie Qin, et al.Genes|September 28, 2021
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in <i>MCCC1</i> and <i>GNB5</i> Causing Overlapping PhenotypesZhuo Shao, Ikuo Masuho, Anupreet Tumber, et al.Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|January 19, 2025
Insights into the effects of subretinal voretigene neparvovec-rzyl in RPE65-associated Leber congenital amaurosisAlaa Tayyib, Deepika C Parameswarappa, Peter J Kertes, et al.Scientific Reports|December 5, 2020
COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damageSami Tabbarah, Erika Tavares, Jason Charish, et al.Journal of Inherited Metabolic Disease|February 23, 2026
Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn ScreeningAnna T Reischl-Hajiabadi, Laura Guilder, Michal Inbar-Feigenberg, et al.Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|February 12, 2026
Gene therapy outcomes in young patients with RPE65-retinal degenerationKirk A J Stephenson, Abrar K Alsalamah, Anupreet Tumber, et al.Pageof 9