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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 31
- 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 → TodayFunding: BOF - projects
- DHRSX deficiency - A novel CDG and a new facet of dolichol metabolism?From1 Apr 2021 → 31 Mar 2022Funding: Foreign private sponsor - undefined
- EU-Genomics: EU Infrastructure for Genome AnalysisFrom1 Jan 2021 → TodayFunding: FWO Large scale research infrastructure
- Inborn Errors of GlycosylationFrom1 Jan 2021 → TodayFunding: Own budget, for example: patrimony, inscription fees, gifts
- 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 - Skills and Career Development (Marie Skłodowska-Curie) actions
- Beyond 1M GenomesFrom1 Jun 2020 → TodayFunding: H2020 - Health, demographic change and wellbeing
- Deep familial phenotyping and genotyping to resolve phenotypic variability of inherited pathogenic genetic variantsFrom1 Oct 2019 → TodayFunding: BOF - projects
- An integrated 'omics' approach for identifying and characterizing congenital glycosylation defectsFrom1 Feb 2019 → 31 Dec 2022Funding: FWO research project
Publications
1 - 10 of 214
- Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed Choice(2022)
Authors: Eva Van Steijvoort, Karen Peeraer, Gert Matthijs, Pascal Borry
Pages: 3313 - 3318 - A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report(2022)
Authors: Gert Matthijs
- Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia(2022)
Authors: Gert Matthijs, Koenraad Devriendt, Christel Van Geet
- Recommendations for whole genome sequencing in diagnostics for rare diseases(2022)
Authors: Erika Souche, Gert Matthijs
Pages: 1017 - 1021 - DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo(2022)
Authors: Koenraad Devriendt, Gert Matthijs
- Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium)(2022)
Authors: Eva Van Steijvoort, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry
Pages: 1043 - 1053 - CDG or not CDG(2022)
Authors: Gert Matthijs
Pages: 383 - 385 - Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium)(2022)
Authors: Eva Van Steijvoort, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry
Pages: 1255 - 1261 - CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking(2022)
Authors: Matthew Wilson, Erika Souche, Daisy Rymen, Gert Matthijs
Pages: 2571 - 2581 - Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation(2022)
Authors: Frederik Staels, Matthew Wilson, Rik Schrijvers, Gert Matthijs
Pages: 1279 - 1286