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Multi-level exploration of the photoreceptor-specific nuclear receptor NR2E3 implicated in autosomal dominant retinitis pigmentosa
(2025) -
- PhD Thesis
- open access
Uncovering the role of non-coding regulatory variation in inherited retinal disease
(2024) -
Long-term deep phenotyping in inherited ocular disease novel genotype-phenotype correlations
(2022) -
Expanding the coding and non-coding genomic landscape of genetic eye diseases
(2022) -
- PhD Thesis
- open access
CIL-EYE : functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases
(2020) -
- PhD Thesis
- open access
Recurrent coding and rare non-coding targets for treatment in inherited retinal diseases
(2019) -
Novel genes and mechanisms underlying autosomal dominant retinitis pigmentosa and allied retinal dystrophies
(2017)