Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
Topics
Inherited retinal degeneration · ABCA4 · USH2A · RPGR · PRPH2 · BEST1 · gene-directed therapies · whole genome sequencing · whole exome sequencing · Gene panel testing · complex disease alleles · USH2A exon 13 variants · RPGR ORF15 region · CNGB3 · BBS1 · TIMP3 · EFEMP1 · RP1 · founder variants · Genomics England PanelApp
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Pepkio Research Index (PRI). Topics and Trends in Most Cited Retinal Development and Disorders Papers, Class of 2026. https://pri.pepkio.com/top-papers/retinal-development-and-disorders/2026. Accessed 2026-10-24. Methodology Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459

