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Advances in Experimental Medicine and Biology|February 10, 2025
The Challenge of VUS in Inherited Retinal Degeneration: Insight from Functional StudiesLaura K Finnegan, Anna R Ridgeway, Naomi Chadderton, et al.
Genes|June 26, 2026
First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an Irish <i>RPGR</i> Pedigree with X-Linked Retinitis PigmentosaElla Kopčić, Laura Whelan, Ciara Shortall, et al.
Genes|January 25, 2025
Novel Splice-Altering Variants in the <i>CHM</i> and <i>CACNA1F</i> Genes Causative of X-Linked Choroideremia and Cone DystrophyAnna R Ridgeway, Ciara Shortall, Laura K Finnegan, et al.
Genetics in Medicine Open|July 6, 2026
The landscape of variants in pre-mRNA-processing factor genes in an Irish cohortLaura K Finnegan, Anna R Ridgeway, Matthew Carrigan, et al.
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