ArticleEuropean journal of human genetics : EJHG2025
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.
Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Cannabinoid type 1 receptor availability imaging in attention-deficit/hyperactivity disorder using [EJNMMI reports · 2026Article
- Patterns of X-Linked Retinitis Pigmentosa Genetic Testing in England and Implications for Service Provision.Ophthalmology science · 2026Article
- RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.Human genetics · 2026Article
- Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.Genome research · 2024Article
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Authors and funding
15 authors.
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Abstract
X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to legal blindness in males and a broad severity spectrum in carrier females. Pathogenic alterations of the retinitis pigmentosa GTPase regulator gene (RPGR) are responsible for over 70% of XLRP cases. In the retina, the RPGR
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