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Uncovering the role of non-coding regulatory variation in inherited retinal disease
(2024) -
Decoding the non-coding regulatory genome : modelling of eye enhancerophathies in Xenopus tropicalis
(2024) -
Multi-omics in human retina to decode cis-regulatory landscapes of inherited retinal disease genes
(2023) -
Modelling of rare diseases and developmental processes in Xenopus tropicalis : from retinal degeneration to epidermal structures
(2023) -
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
Disclosing incidental and secondary findings in clinical genomics : professional practice, patient experience and ethical reflection
(2020) -
- PhD Thesis
- open access
Recurrent coding and rare non-coding targets for treatment in inherited retinal diseases
(2019) -
Missing heritability in inherited blindness : ABCA4-associated disease as a model
(2018)