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Biorxiv : the Preprint Server for Biology|February 12, 2026
Peroxisome dysfunction alters metabolism of photoreceptor outer segments in human retinal pigment epitheliumConstantin Mouzaaber, Carly B Feldman, Suzette M Huguenin, et al.
Experimental Eye Research|May 17, 2002
Macular pigment and lutein supplementation in choroideremiaJacque L Duncan, Tomas S Aleman, Leigh M Gardner, et al.
American Journal of Human Genetics|September 21, 2010
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindnessS Amer Riazuddin, Amber Shahzadi, Christina Zeitz, et al.
The British Journal of Ophthalmology|October 10, 2018
Macular spatial distribution of preserved autofluorescence in patients with choroideremiaAmir H Hariri, Michael S Ip, Aniz Girach, et al.
American Journal of Ophthalmology|May 14, 2017
Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With ChoroideremiaAmir H Hariri, Swetha B Velaga, Aniz Girach, et al.
Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor SyndromePankhuri Gupta, Elsa V Balton, Mavika Tejura, et al.
Nature Communications|November 4, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for visionPaul W Chrystal, Nils J Lambacher, Lance P Doucette, et al.
American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.
Investigative Ophthalmology & Visual Science|September 23, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.
Research Square|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.
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