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Investigative Ophthalmology & Visual Science|November 18, 2015
A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis PigmentosaKristof Van Schil, B Jeroen Klevering, Bart P Leroy, et al.
Investigative Ophthalmology & Visual Science|April 13, 2026
The Genetic Landscape of Inherited Retinal Diseases in the Israeli PopulationSapir Shalom, Libe Gradstein, Eran Pras, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal DystrophyDaan M Panneman, Rebekkah J Hitti-Malin, Martin McKibbin, et al.
American Journal of Human Genetics|August 16, 2006
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, et al.
Human Mutation|October 2, 2004
CRB1 mutation spectrum in inherited retinal dystrophiesAnneke I den Hollander, Jason Davis, Saskia D van der Velde-Visser, et al.
Human Mutation|October 19, 2022
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseasesRebekkah J Hitti-Malin, Claire-Marie Dhaenens, Daan M Panneman, et al.
Human Genetics|August 19, 2021
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variantJeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, et al.
Ophthalmology|January 19, 2010
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophyAlberta A H J Thiadens, Susanne Roosing, Rob W J Collin, et al.
Cells|November 26, 2022
The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific MannerIrene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, et al.
Orphanet Journal of Rare Diseases|March 21, 2021
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statementGraeme C Black, Panagiotis Sergouniotis, Andrea Sodi, et al.
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