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 26 results
- Expanding the genetic landscape of Congenital Disorders of Glycosylation using genomic techniques - RNA-SeqFrom1 Oct 2021 → TodayFunding: BOF - projects
- 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
- Untangling the pathophysiology of congenital disorders of glycosylation affecting the OST complexFrom1 Jul 2020 → TodayFunding: H2020 - Skills and Career Development (Marie Skłodowska-Curie) actions
- Deep familial phenotyping and genotyping to resolve phenotypic variability of inherited pathogenic genetic variantsFrom1 Oct 2019 → TodayFunding: BOF - projects
- European Joint Programme on Rare DiseasesFrom1 Jan 2019 → TodayFunding: H2020 - Food security, sustainable agriculture, marine and maritime research and the bio-economy
- EUROGLYCAN-omics: congenital errors of glycosylation.From1 May 2018 → 30 Apr 2020
- Genomic Medicine: Translation of Whole Genome Analyses to Health GenomicsFrom1 May 2018 → TodayFunding: IOF - Industrial Research Fund
- Implementation of an expanded carrier screening offer for couplesFrom1 Jan 2018 → TodayFunding: FWO research project
- A comprehensive study of genetic determinants of motor neuron vulnerabilityFrom1 Oct 2017 → TodayFunding: FWO fellowships
Publications
1 - 10 of 197 results
- The evolving genetic landscape of congenital disorders of glycosylation.(2021)
Authors: Matthew Wilson, Gert Matthijs
Pages: 129976 - MAN1B1-CDG: novel patients and novel variant(2021)
Authors: Cigdem Seher Kasapkara, Asburce Olgac, Mustafa Kilic, Liesbeth Keldermans, Gert Matthijs, Jaak Jaeken
Pages: 1207 - 1209Number of pages: 3 - Expanded carrier screening in Flanders (Belgium): an online survey on the perspectives of nonpregnant reproductive-aged women(2021)
Authors: Eva Van Steijvoort, Heleen Devolder, Inne Geysen, Silke Van Epperzeel, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry
Pages: 361 - 373Number of pages: 13 - Aberrant sialylation in a patient with a HNF1 alpha variant and liver adenomatosis(2021)
Authors: Luisa Sturiale, Marie-Cecile Nassogne, Angelo Palmigiano, Angela Messina, Immacolata Speciale, Rosangela Artuso, Gaetano Bertino, Nicole Revencu, Xavier Stephenne, Cristina De Castro, et al.
Number of pages: 21 - Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience(2021)
Authors: Dulce Quelhas, Esmeralda Martins, Luisa Azevedo, Anabela Bandeira, Luisa Diogo, Paula Garcia, Silvia Sequeira, Ana Cristina Ferreira, Elisa Leao Teles, Esmeralda Rodrigues, et al.
Pages: 148 - 156Number of pages: 9 - SLC35A2-CDG: Novel variant and review(2021)
Authors: Dulce Quelhas, Joana Correia, Jaak Jaeken, Luisa Azevedo, Monica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins
Number of pages: 8 - SLC37A4-CDG: Second patient.(2021)
Authors: Matthew Wilson, Dulce Quelhas, Elisa Leão-Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, et al.
Pages: 122 - 128 - Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)(2021)
Authors: Fabio Pettinato, Giovanni Mostile, Roberta Battini, Diego Martinelli, Annalisa Madeo, Elisa Biamino, Daniele Frattini, Domenico Garozzo, Serena Gasperini, Rossella Parini, et al.
Pages: 596 - 605Number of pages: 10 - SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card(2020)
Authors: Jaak Jaeken, Dirk J Lefeber, Gert Matthijs
Pages: 1297 - 1300Number of pages: 4 - Interest in expanded carrier screening among individuals and couples in the general population : systematic review of the literature(2020)
Authors: Eva Van Steijvoort, Davit Chokoshvili, Jeffrey Cannon, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry
Pages: 335 - 355Number of pages: 21