Researcher
Marije Meuwissen
- Keywords:Medicine
- Disciplines:Clinical genetics and molecular diagnostics, Genetics, Cognitive neuroscience, Developmental neuroscience
Affiliations
- Medical Genetics (MEDGEN) (Research group)
Member
From1 Oct 2022 → Today - Medical Genetics (MEDGEN) (Research group)
Member
From1 Oct 2017 → 30 Sep 2022 - Medical Genetics (MEDGEN) (Research group)
Member
From1 Jan 2015 → 30 Sep 2017
Projects
1 - 4 of 4
- Autophagy dysregulation in cerebral palsy: a common mechanism.From15 Jan 2024 → TodayFunding: Nonprofit institution or equivalents
- A transcriptome-directed approach to brain malformations.From1 Oct 2022 → TodayFunding: BOF - doctoral mandates
- The role of the COL4A2 NC1-domain in cerebrovascular and aneurysmal disorders: a functional approach.From1 Oct 2021 → TodayFunding: BOF - doctoral mandates
- Development of a functional model to determine the pathogenicity of COL4A1- and COL4A2-variants of unknown significance in cerebrovascular disorders and aortic aneurysms.From1 Jan 2019 → 31 Dec 2021Funding: FWO research grant KAN
Publications
1 - 10 of 34
- From diagnosis to treatment in genetic epilepsies(2024)
Authors: Matthias De Wachter, An-Sofie Schoonjans, Sarah Weckhuysen, Kristof Van Schil, Ann Löfgren, Marije Meuwissen, Anna Jansen, Berten Ceulemans
Pages: 46 - 60 - Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises(2024)
Authors: Liene Thys, Marije Meuwissen, Katrien Janssens
Pages: 1 - 5 - Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome(2023)
Authors: Jessica Rosenblum, Lennart Van Der Veeken, Michael Aertsen, Marije Meuwissen, Anna Jansen
Pages: 1 - 4 - Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum(2023)
Authors: Liene Thys, Anna Jansen, Katrien Janssens, Marije Meuwissen
Pages: 2451 - 2453 - Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition(2023)
Authors: Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, et al.
Pages: 668 - 697 - De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability(2022)
Authors: Audrey Schalk, Margot A. Cousin, Thomas D. Challman, Karen E. Wain, Zoe Powis, Kelly Minks, Aurelien Trimouille, Eulalie Lasseaux, Didier Lacombre, Chloe Angelini, et al.
Pages: 965 - 975 - Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutieres syndrome with severe end-organ involvement(2022)
Authors: Leslie Naesens, Josephine Nemegeer, Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, Patrick Verloo, Benson Ogunjimi, Dimitri Hemelsoet, Levi Hoste, et al.
Pages: 962 - 974 - Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder(2022)
Authors: Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Monica Mateiu, Merlijn Nemegeer, Josephina Meester, Alexandra Afenjar, Michelle Amaral, et al.
Pages: 1583 - 1591 - Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications(2022)
Authors: Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D. Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, et al.
Pages: 2991 - 3009 - Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases(2022)
Authors: My Ha, Esther Bartholomeus, Luc Van Os, Julie Dandelooy, Julie Leysen, Olivier Aerts, Vasiliki Siozopoulou, Eline De Smet, Jan Gielen, Michel De Maeseneer, et al.
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