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Ophthalmic Genetics|January 9, 2025
Modifiers and their impact on inherited retinal diseases: a reviewLaura M Ford, Simon M Petersen-JonesOphthalmic Genetics|January 7, 2025
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international studyOgul E Uner, Radwa Elsharawi, Margaret Reynolds, et al.Ophthalmic Genetics|December 12, 2023
Male infertility may be associated with IFT140-related autosomal recessive retinitis pigmentosaLeslie Huang, Elizabeth Kellom, Kimberly StepienOphthalmic Genetics|December 15, 2023
Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and KRAS mutation: a current review and novel case reportLauren B Yeager, Daniel S Casper, Armando Del Portillo, et al.Ophthalmic Genetics|November 24, 2023
Association of GNB3, ACE polymorphisms with POAG and NTGAlexander N Samoylov, Polina Tumanova, Sofya A Pankratova, et al.Ophthalmic Genetics|January 18, 2024
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literatureFatemeh Abdi, Sadaf Parvin, Vahid Zare Hosseinabadi, et al.Ophthalmic Genetics|January 26, 2024
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skippingWilliam J Waldock, Laura J Taylor, Sian Sperring, et al.Ophthalmic Genetics|January 10, 2024
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of femalesSekita Dalsgård Petersen, Mohamed Belmouhand, Jens Michael Hertz, et al.Ophthalmic Genetics|April 1, 2024
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucomaBanu Bozkurt, Ozkan Bağcı, Sema Üzüm, et al.Ophthalmic Genetics|February 29, 2024
Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophyTugche S Chen, Narin Sheri, David S Ehmann, et al.Pageof 185