Researcher
Gert Matthijs
- Disciplines:Genetics, Systems biology, Medical imaging and therapy, Molecular and cell biology, Other paramedical sciences
Affiliations
- Laboratory for Molecular Diagnosis (Division)
Responsible
From1 Jan 2008 → Today - Department of Human Genetics (Department)
Member
From1 Oct 1999 → Today
Projects
1 - 10 of 34
- Dolichol: An overlooked lipid in human health and diseaseFrom1 Jan 2024 → TodayFunding: FWO research project (including WEAVE projects)
- Training the future generation of clinical and basic reseachers for Congenital Disorders of GlycosylationFrom1 Feb 2023 → TodayFunding: BOF - various
- Congenital Disorders of Glycosylation: new defects and mechanismsFrom1 Oct 2022 → TodayFunding: FWO senior postdoctoral fellowship
- Expanding the genetic landscape of Congenital Disorders of Glycosylation using genomic techniques - RNA-SeqFrom1 Oct 2021 → 30 Sep 2023Funding: BOF - projects
- DHRSX deficiency - A novel CDG and a new facet of dolichol metabolism?From1 Apr 2021 → 31 Mar 2022Funding: Foreign private sponsor - undefined
- Inborn Errors of GlycosylationFrom1 Jan 2021 → TodayFunding: Own budget, for example: patrimony, inscription fees, gifts
- EU-Genomics: EU Infrastructure for Genome AnalysisFrom1 Jan 2021 → TodayFunding: FWO Large scale research infrastructure
- Deciphering the function(s) of SLC10A7 in Congenital Disorders of Glycosylation (CDG).From1 Oct 2020 → TodayFunding: BOF - doctoral mandates
- Untangling the pathophysiology of congenital disorders of glycosylation affecting the OST complexFrom1 Jul 2020 → 30 Jun 2022Funding: H2020-EU.1.3.- EXCELLEN SCIENCE - Marie Skłodowska-Curie actions
- Beyond 1M GenomesFrom1 Jun 2020 → 31 Aug 2023Funding: H2020-EU.3.1. - SOCIETAL CHALLENGES - Health, demographic change and wellbeing
Publications
201 - 210 of 226
- Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome(2009)
Authors: Gert Matthijs, John Creemers
Pages: bcr08.2008 - Screening for OST deficiencies in unsolved CDG-I patients(2009)
Authors: Wendy Vleugels, François Foulquier, Gert Matthijs
Pages: 769 - 774 - Gene patents: from discovery to invention A geneticist's view(2009)
Authors: Gert Matthijs
Pages: 311 - 330Number of pages: 20 - On the nomenclature of congenital disorders of glycosylation (CDG)(2008)
Authors: Gert Matthijs
Pages: 669 - 672 - Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase(2008)
Authors: Wendy Vleugels, Gert Matthijs
Pages: 33988 - 33993 - EuroGentest Guidelines for the Analytical Validation of Genetic Tests(2008)
Authors: Elfriede Swinnen, JA Wilson, E Bakker, DE Barton, Sarah Berwouts, P Bossuyt, J Camajova, A Corveleyn, Els Dequeker, T Janssens, et al.
Pages: 598 - 598 - Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients(2008)
Authors: Koenraad Devriendt, Gert Matthijs
Pages: 1237 - 1246 - Multi-system disorder syndromes associated with cystinuria type I(2008)
Authors: Gert Matthijs, John Creemers
Pages: 544 - 550 - Patenting and licensing in genetic testing - Recommendations of the European Society of Human Genetics (vol 16, pg 405, 2008)(2008)
Authors: Segolene Ayme, Gert Matthijs, Violetta Anastasiadou, Fatmahan Atalar, Suzanne Braga, John Burn, Jean-Jacques Cassiman, Martina Cornel, Domenico Coviello, Gerry Kiebooms, et al.
Pages: 1159 - 1159 - EuroGentest: A Collaborative Network Aimed at Improving the Quality of Genetic Testing(2008)
Authors: Rosalind Hastings, DE Barton, Sarah Berwouts, C Brady, J Camajova, P Corbisier, A Corveleyn, L Desmet, R Elles, B Fowler, et al.
Pages: S121 - S121