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Author

M. Benson

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Open access Sep 2026

Genotype-Phenotype Correlations Reveal Positive Inheritance and Phenotype Associations for PROM1-Associated Inherited Retinal Degenerations

Genetic variants in PROM1 are associated with inherited blindness, but clinical phenotypes vary widely with currently no consensus on disease expectations or predicted patient outcomes. To address this issue, we performed chi-square correlation analysis on 190 published pathogenic and likely pathogenic variants from Cl...

M. Shoukat, K. M. Papp, E. Misaghi et al. · 0 citations
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

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