Associated Papers
Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.
Ibrahim M et al.
Ophthalmology Science, 2026
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes.
Maggi J et al.
International Journal of Molecular Sciences, 2024
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2020
Deep Phenotyping of PDE6C-Associated Achromatopsia.
Georgiou M et al.
Investigative Ophthalmology & Visual Science, 2019
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