Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History.
Bianco L et al.
Investigative Ophthalmology & Visual Science, 2025
40261664 (PubMed )
Supplement: iovs-66-4-61_s002.pdf
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.
Zufiaurre-Seijo M et al.
International Journal of Molecular Sciences, 2023
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.
Audo I et al.
Human Mutation, 2011
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
Collin RW et al.
American Journal of Human Genetics, 2010
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