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Giulia Ascari

Ghent University

11

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3

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Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

2021 Frontiers in Cell and Developmental Biology
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Functional characterization of a Xenopus tropicalis knockout and a human cellular model of RCBTB1-associated inherited retinal disease shows involvement of RCBTB1 in the cellular response to oxidative stress

2020 Investigative Ophthalmology & Visual Science
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CIL-EYE : functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases

2020
- Giulia Ascari
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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

2019 Investigative Ophthalmology & Visual Science
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CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease

2018
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Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility.

2017
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Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy

2016 Investigative Ophthalmology & Visual Science
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