Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.
Sather R et al.
International Journal of Molecular Sciences, 2023
37446072 (PubMed )
Supplement: ijms-24-10895-s001.zip › ijms-2370890-supplementary.pdf
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Arno G et al.
Investigative Ophthalmology & Visual Science, 2016
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Nikopoulos K et al.
Scientific Reports, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Clinical characteristics of early retinal disease due to CDHR1 mutation.
Ba-Abbad R et al.
Molecular Vision, 2013
A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.
Cohen B et al.
Molecular Vision, 2012
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