# Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

*PRI Rank #20 · Topics and Trends in Most Cited Retinal Development and Disorders Papers, Class of 2026*

*Canonical URL: https://pri.pepkio.com/top-papers/retinal-development-and-disorders/2026/rank-20*

| Field | Value |
| --- | --- |
| Rank | #20 |
| 18m citations | 23 |
| Journal | Ophthalmology Retina |
| Year | 2024 |
| DOI | 10.1016/j.oret.2024.01.012 |
| Corresponding authors | Gavin Arno |
| Institution | University College London, United Kingdom |

**Ranking page:** [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)

**Paper link:** [10.1016/j.oret.2024.01.012](https://doi.org/10.1016/j.oret.2024.01.012)

## 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

## Cite this ranking

```
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 2026-10-28.

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
```