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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
31 - 40 of 226
- SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card(2020)
Authors: Gert Matthijs
Pages: 1297 - 1300 - Interest in expanded carrier screening among individuals and couples in the general population : systematic review of the literature(2020)
Authors: Eva Van Steijvoort, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry
Pages: 335 - 355 - Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network(2020)
Authors: Gert Matthijs
- Leveraging European infrastructures to access 1 million human genomes by 2022 (vol 20, pg 693, 2019)(2019)
Authors: Gary Saunders, Michael Baudis, Regina Becker, Sergi Beltran, Christophe Beroud, Ewan Birney, Cath Brooksbank, Soren Brunak, Marc Van den Bulcke, Rachel Drysdale, et al.
Pages: 702 - 702 - Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation(2019)
Authors: Gert Matthijs
Pages: 1757 - 1760 - Leveraging European infrastructures to access 1 million human genomes by 2022(2019)
Authors: Gert Matthijs
Pages: 692 - + - Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.(2019)
Authors: Eline Blommaert, Romain Péanne, Daisy Rymen, Frederik Staels, Erika Souche, Rik Schrijvers, François Foulquier, Gert Matthijs
Pages: 9865 - 9870 - Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?(2019)
Authors: Peter Witters, Gert Matthijs, Wouter Meersseman, David Cassiman, Eva Morava
Pages: 1181 - 1188 - RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.(2019)
Authors: Gert Matthijs
Pages: 111 - 116 - Determination of the Variability and Associated Epigenetic Signature of Tandem Repeats by Single Molecule Sequencing(2018)
Authors: Simon Ardui, Joris Vermeesch, Gert Matthijs