Associated Papers
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
The role of splicing factors in retinitis pigmentosa: links to cilia.
Maxwell DW et al.
Biochemical Society Transactions, 2021
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 2017
Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.
Zhong Z et al.
Scientific Reports, 2016
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
de Sousa Dias M et al.
Molecular Vision, 2015
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
Gamundi MJ et al.
Human Mutation, 2008
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