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
11 - 20 of 43
- 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 - Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes(2019)Volume: 27
Authors: Stijn Van de Sompele, Kristof Van Schil, Toon Rosseel, Sarah De Jaegere, Irina Balikova
Pages: 54 - 54 - Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel(2019)
Authors: Greet Wieme, Toon Rosseel, Bram Parton, Bettina Blaumeiser, Jenneke van den Ende, Sabine Tejpar, Bruce Poppe, Kim De Leeneer, Kathleen Claes
Number of pages: 1 - Application of a custom designed broad cancer predisposition gene panel for the analysis of patients with a personal and/or family history of pancreatic cancer(2019)
Authors: Greet Wieme, Toon Rosseel, Bram Parton, Bettina Blaumeiser, Jenneke van den Ende, Sabine Tejpar, Bruce Poppe, Kim De Leeneer, Kathleen Claes
Number of pages: 1 - ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants(2019)
Authors: Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Toon Rosseel, et al.
Pages: 1761 - 1771 - 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 - Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease(2019)
Authors: Stijn Van de Sompele, Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil, Timothy Cherry, Toon Rosseel, Hannah Verdin, Julien Derolez, Kamron N. Khan, et al.
Pages: 1319 - 1329 - Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel(2019)Volume: 27
Authors: Greet Wieme, Toon Rosseel, Bram Parton, Bettina Blaumeiser, Sabine Tejpar, Bruce Poppe, Kim De Leeneer, Kathleen Claes
Pages: 1593 - 1593 - Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits(2018)
Authors: Mieke Van Bockstal, Bruce Poppe, Kathleen Lambein, Toon Rosseel, Lilit Atanesyan, Dieter Deforce, Ivo Van Den Berghe
Pages: 125 - 133 - Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease(2018)
Authors: Stijn Van de Sompele, Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil, Frank Peelman, Timothy Cherry, Toon Rosseel, Hannah Verdin, Julien Derolez, et al.
Number of pages: 1