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 35
- 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 - Role of CAMK2D in neurodevelopment and associated conditions(2024)
Authors: Pomme M.F. Rigter, Charlotte de Konink, Matthew J. Dunn, Martina Proietti Onori, Jennifer B. Humberson, Matthew Thomas, Caitlin Barnes, Carlos E. Prada, K. Nicole Weaver, Thomas D. Ryan, et al.
Pages: 1 - 20 - 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