Associated Papers
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
40571344 (PubMed )
Supplement: bjo-109-8-s002.xlsx › P_or_LP_variants_
Rescue of the disease-associated phenotype in CRISPR-corrected hiPSCs as a therapeutic approach for inherited retinal dystrophies.
Siles L et al.
Molecular Therapy. Nucleic Acids, 2025
High-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia-Patient-Derived iPSCs.
Siles L et al.
International Journal of Molecular Sciences, 2023
Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene.
Domingo-Prim J et al.
Stem Cell Research, 2019
Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia.
Madeira C et al.
Case Reports in Ophthalmology, 0
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