Concepedia

Author

Giulia Ascari

University of LausanneORCID

Also Known As

Ascari, Giulia, Giulia Ascari

14

Publications

198

Citations

5

H-Index

10

Concepts

All Affiliations

University of LausanneGhent University HospitalGhent UniversityKU LeuvenUniversity of Copenhagen
GA

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

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Medicine

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Public Health

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Biology

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Molecular Genetics

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Pathology

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Giulia Ascari

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4

Publications

116

Citations

4

H-Index

YearCitations

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

Frauke Coppieters, Giulia Ascari, Katharina Dannhausen,

The American Journal of Human Genetics

2016

49

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,

Frontiers in Cell and Developmental Biology

2021

27

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,

Human Mutation

2020

22

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

Paola Benaglio, Patricia Fernandez San Jose, Almudena Ávila‐Fernández,

PubMed

2014

18

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