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Author

Robert B. Hufnagel

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Review Open access Sep 2026

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation

Gene-based therapies are being developed for retinal diseases, including RS1-related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curati...

Sarah Hull, M. Mero, W. Hankey et al. · 0 citations
Open access Jul 2026

A peripheral subpopulation of retinal pigment epithelium resists oxidative damage through SERPINE3-mediated caspase-1 inhibition

A peripheral RPE subpopulation is identified through spatial, transcriptomic, and functional analyses, thereby contributing to the understanding of the heterogeneity of degenerative RPE cells and highlighting SERPINE3 as a protective factor with therapeutic potential for macular atrophy.

Hui-Rong Li, Takerra K. Johnson-Stephenson, Vincent P. Kunze et al. · 0 citations

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