Onderzoeker
Giulia Ascari
- Disciplines:Palliatieve zorg en zorg rond het levenseinde, Laboratoriumgeneeskunde, Andere translationele wetenschappen, Regeneratieve geneeskunde, Verpleegkunde, Andere klinische wetenschappen, Andere basiswetenschappen, Andere paramedische wetenschappen, Andere gezondheidswetenschappen, Andere medische en gezondheidswetenschappen
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → 30 sep 2021 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf9 mrt 2015 → 30 sep 2018
Publicaties
1 - 10 van 10
- Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss(2022)Volume: 30
Auteurs: 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.
Pagina's: 45 - 45 - Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss(2021)
Auteurs: 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)
Auteurs: Giulia Ascari, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, et al.
Pagina's: 998 - 1011 - Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing(2020)
Auteurs: 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.
Aantal pagina's: 1 - CIL-EYE : functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases(2020)
Auteurs: 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
Auteurs: Giulia Ascari, Nina Lambrechts, Toon Rosseel, Pietro Farinelli, Irina Balikova, Jan Gerris, Claus Bachert, Carlo Rivolta, SOPHIE WALRAEDT
Aantal pagina's: 1 - Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination(2016)
Auteurs: Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K Tsilimbaris, Chrysanthi Tsika, Styliani V Blazaki, et al.
Pagina's: 470 - 480 - Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa(2014)
Auteurs: Paola Benaglio, Patricia Fernandez San Jose, Almudena Avila-Fernandez, Giulia Ascari, Shyana Harper, Gaël Manes, Carmen Ayuso, Christian Hamel, Eliot L Berson, Carlo Rivolta
Pagina's: 843 - 851 - Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index(2014)
Auteurs: 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
Auteurs: Giulia Ascari, Thomas Naert, Tom Van Nieuwenhuysen, Suzan Demuynck, Chris Guerin, Kris Vleminckx
Aantal pagina's: 1