Researcher
Giulia Ascari
- Disciplines:Palliative care and end-of-life care, Laboratory medicine, Other translational sciences, Regenerative medicine, Nursing, Other clinical sciences, Other basic sciences, Other paramedical sciences, Other health sciences, Other medical and health sciences
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → 30 Sep 2021 - Department of Pediatrics and medical genetics (Department)
Member
From9 Mar 2015 → 30 Sep 2018
Publications
1 - 10 of 10
- Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss(2022)Volume: 30
Authors: Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Gavin Arno, Julie Jacob, Toon Rosseel, Tim De Pooter, Peter De Rijk, et al.
Pages: 45 - 45 - Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss(2021)
Authors: Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Gavin Arno, Julie Jacob, Toon Rosseel, Tim De Pooter, et al.
- Functional characterization of the first missense variant in CEP78, a founder allele associated with coneU+2010rod dystrophy, hearing loss and reduced male fertility(2020)
Authors: Giulia Ascari, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, et al.
Pages: 998 - 1011 - Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing(2020)
Authors: Giulia Ascari, Nanna D. Rendtorff, Julie Jacob, Julie De Zaeytijd, Valerie Baumont, Marieke De Bruyne, Toon Rosseel, Mattias Van Heetvelde, Tim De Pooter, Wouter De Coster, et al.
Number of pages: 1 - CIL-EYE : functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases(2020)
Authors: Giulia Ascari
- Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss(2019)Volume: 60
Authors: Giulia Ascari, Nina Lambrechts, Toon Rosseel, Pietro Farinelli, Irina Balikova, Jan Gerris, Claus Bachert, Carlo Rivolta, SOPHIE WALRAEDT
Number of pages: 1 - Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination(2016)
Authors: Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K Tsilimbaris, Chrysanthi Tsika, Styliani V Blazaki, et al.
Pages: 470 - 480 - Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa(2014)
Authors: Paola Benaglio, Patricia Fernandez San Jose, Almudena Avila-Fernandez, Giulia Ascari, Shyana Harper, Gaël Manes, Carmen Ayuso, Christian Hamel, Eliot L Berson, Carlo Rivolta
Pages: 843 - 851 - Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index(2014)
Authors: CJ Hoggart, G Venturini, M Mangino, F Gomez, Giulia Ascari, JH Zhao, A Teumer, TW Winkler, N Tsernikova, J Luan, et al.
- CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal diseaseVolume: 59
Authors: Giulia Ascari, Thomas Naert, Tom Van Nieuwenhuysen, Suzan Demuynck, Chris Guerin, Kris Vleminckx
Number of pages: 1