Concepedia

Giulia Ascari

GA

4

Publications

116

Citations

4

H-Index

2014

Active since

Affiliations

University of Lausanne(Current)

Ghent University Hospital

Ghent University

KU Leuven

University of Copenhagen

Giulia Ascari is an author at University of Lausanne specializing in hearing loss, molecular genetics, and reproductive biology.

ORCID

Top concepts

Publications per year

2014–2021

4

Publications

4

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination

Frauke Coppieters, Giulia Ascari, Katharina Dannhausen et al. · The American Journal of Human Genetics · 2016 · 49 citations · Full text

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

Giulia Ascari, Nanna Dahl Rendtorff, Marieke De Bruyne et al. · Frontiers in Cell and Developmental Biology · 2021 · 27 citations · Full text

Functional characterization of the first missense variant in <i>CEP78</i> , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

Giulia Ascari, Frank Peelman, Pietro Farinelli et al. · Human Mutation · 2020 · 22 citations · Full text

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Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

Paola Benaglio, Patricia Fernandez San Jose, Almudena Ávila‐Fernández et al. · PubMed · 2014 · 18 citations · Full text

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