Researcher
Toon Rosseel
- 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 Apr 2020 - Department of Pediatrics and medical genetics (Department)
Member
From1 May 2015 → 30 Sep 2018 - Department of Translational Physiology, Infectiology and Public Health (Department)
Member
From6 Oct 2011 → 20 Sep 2015
Publications
1 - 10 of 43
- Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis(2023)Volume: 7
Authors: Tamara Jarayseh, Adelbert De Clercq, Toon Rosseel, Mauro Alessio Milazzo, Andy Willaert, Paul Coucke
Number of pages: 1 - 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 - Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3(2022)Volume: 30
Authors: Nika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, Elke Bogaert, Pascale Hilbert, Nike Van Doninck, Marie-Caroline Taquet, Toon Rosseel, Griet De Clercq, Carole Van Haverbeke, et al.
Pages: 80 - 80 - A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)(2021)
Authors: Kent W. Small, Stijn Van de Sompele, Karen Nuytemans, Andrea Vincent, Ozge Ozalp Yuregir, Emine Ciloglu, Cahfer Sariyildiz, Toon Rosseel, Jessica Avetisjan, Nitin Udar, et al.
Pages: 518 - 527 - Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant(2021)
Authors: Ine Strubbe, Julie De Zaeytijd, Sarah De Jaegere, Marieke De Bruyne, Toon Rosseel, Stijn Van de Sompele
- Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients(2021)
Authors: Greet Wieme, Jan Kral, Toon Rosseel, Petra Zemankova, Bram Parton, Michal Vocka, Mattias Van Heetvelde, Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, et al.
Number of pages: 1 - Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients(2021)
Authors: Greet Wieme, Jan Kral, Toon Rosseel, Petra Zemankova, Bram Parton, Michal Vocka, Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, Jenneke van den Ende, et al.
- Dealing with pseudogenes in in the next generation sequencing era(2021)Edition: 2Series: Methods in Molecular Biology
Authors: Kathleen Claes, Toon Rosseel, Kim De Leeneer, Laura Poliseno
Pages: 363 - 381 - 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