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International Journal of Molecular Sciences|June 24, 2022
Novel <i>OPN1LW/OPN1MW</i> Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone DysfunctionKatarina Stingl, Britta Baumann, Pietro De Angeli, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2016
Achromatopsia mutations target sequential steps of ATF6 activationWei-Chieh Chiang, Priscilla Chan, Bernd Wissinger, et al.
Genes|March 6, 2021
Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night BlindnessKate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|June 28, 2025
Detecting congenital chiasmal misrouting using multichannel VEPs: protocol for a scoping reviewGiulia Steuernagel Del Valle, Haipha Ali, John R Grigg, et al.
Epilepsia|April 18, 2026
An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic conditionVedika Jha, Christina Tsetsos, Mark Bedford, et al.
Ophthalmic Genetics|March 28, 2023
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patientsKavin Selvan, Rebhi Abuzaitoun, Maria Fernanda Abalem, et al.
Eye (London, England)|October 22, 2025
Phenotypic characterisation of enhanced S Cone syndrome-a multicenter case series analysisDeepika C Parameswarappa, Saarang Hansraj, Srishti Ramamurthy, et al.
Clinical Genetics|December 29, 2025
Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related PhenotypeKirk A J Stephenson, Zhuo Shao, Anupreet Tumber, et al.
American Journal of Ophthalmology|February 9, 2018
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis ImperfectaNashila Hirji, Patrick D Bradley, Shuning Li, et al.
American Journal of Ophthalmology Case Reports|July 1, 2021
Retinal alterations in patients with Lafora diseaseHeather Heitkotter, Rachel E Linderman, Jenna A Cava, et al.
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