Researcher
Olivier Vanakker
- Keywords:paediatric genetics, soft tissue mineralisation, syndromology, molecular genetics, pathophysiological mechanisms, calcification diseases, pseudoxanthoma elasticum, clinical genetics, dysmorphology, ectopic mineralisation diseases, stroke, cerebrovascular diseases
- Disciplines:Paediatrics and neonatology not elsewhere classified, Clinical genetics and molecular diagnostics, Neonatology, Epigenetics, Immunogenetics, Paediatrics, Genetics
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → Today - Department of Pediatrics and medical genetics (Department)
Member
From1 Oct 2003 → 30 Sep 2018
Projects
1 - 9 of 9
- International thematic network INTEC (ectopic calcifiaction)From1 Jan 2023 → TodayFunding: BOF - mobility
- Study of DDR/PARP1 signaling in the pathogenesis and treatment of soft tissue mineralization, using pseudoxanthoma elasticum as a model.From1 Jan 2023 → TodayFunding: FWO research project (including WEAVE projects)
- An integrated translational platform to improve the management and outcome of rare heritable connective tissue diseaseFrom1 Jan 2021 → TodayFunding: BOF - projects
- Identifying mechanisms of disease variability in soft tissue mineralization disorders, using pseudoxanthoma elasticum as a modelFrom1 Jan 2021 → TodayFunding: FWO research project (including WEAVE projects)
- Natural history and determinants of the burden of medial vascular calcification, using pseudoxanthoma elasticum as a model.From1 Nov 2020 → 30 Sep 2023Funding: FWO fellowships
- Natural history and determinants of the burden of medial vascular calcification, using pseudoxanthoma elasticum as a model.From1 Oct 2019 → 31 Oct 2020Funding: BOF - doctoral mandates
- An integrated approach towards understanding and treating soft tissue mineralization, with pseudoxanthoma elasticum as a model.From1 Jan 2015 → 31 Oct 2019Funding: BOF - Doctoral projects
- Unraveling the ophthalmological phenotype and etiopathogenetic mechanisms in pseudoxanthoma elasticumFrom1 Oct 2014 → 30 Sep 2018Funding: FWO fellowships, BOF - Other initiatives
- Study of the cardiovascular phenotype and etiopathogenetic mechanisms in pseudoxanthoma elasticum.From1 Oct 2013 → TodayFunding: FWO fellowships
Publications
21 - 30 of 120
- Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc(2021)
Authors: Nastassia Navassiolava, Ludovic Martin, Pasi I. Nevalainen, Olivier Vanakker
Pages: 131 - 139 - Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons (Jun, 10.1038/s41380-021-01234-7. 2021)(2021)
Authors: Karen Runge, Remi Mathieu, Stephane Bugeon, Sahra Lafi, Corinne Beurrier, Surajit Sahu, Fabienne Schaller, Arthur Loubat, Leonard Herault, Stephane Gaillard, et al.
Pages: 7852 - 7852 - Genetic counseling in the context of Bangladesh : current scenario, challenges, and a framework for genetic service implementation(2021)
Authors: Mohammad Jakir Hosen, Saeed Anwar, Jarin Taslem Mourosi, Sourav Chakraborty, Md. Faruque Miah, Olivier Vanakker
- Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features(2021)
Authors: Candy Kumps, Erika D'haenens, Sarah Vergult, Jasmine Leus, Rudy Van Coster, Anna Jansen, Koen Devriendt, Anna Oostra, Olivier Vanakker
Pages: 449 - 456 - Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the (cardio)vascular phenotype.(2020)
Authors: Justin Depauw, Lukas Nollet, Olivier Vanakker
Number of pages: 1 - Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix(2020)
Authors: Sarah Delbaere, Tibbe Dhooge, Florence Petit, Nathalie Goemans, Anne Destrée, Olivier Vanakker, Fransiska Malfait
Pages: 112 - 123 - Primaire ectopische mineralisatieaandoeningen : van (vaat)verkalking tot syndroom(2020)
Authors: Lukas Nollet, Eva De Vilder, Olivier Vanakker
Pages: 1347 - 1358 - VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum(2020)
Authors: Eva De Vilder, Mohammad Jakir Hosen, Ludovic Martin, Julie De Zaeytijd, Jean-Marc Ebran, Olivier Vanakker
Pages: 74 - 79 - Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum(2020)
Authors: Norbert Kiss, Luca Fésus, Szabolcs Bozsányi, Flóra Szeri, Viktória Szabó, Anikó Ilona Nagy, Bernadett Hidvégi, Róbert Szipocs, Ludovic Martin, Olivier Vanakker, et al.
Pages: 1821 - 1830 - Chikungunya outbreak in Bangladesh (2017) : clinical and hematological findings(2020)
Authors: Saeed Anwar, Jarin Taslem Mourosi, Fahim Khan, Mohammad Ohid Ullah, Olivier Vanakker, Mohammad Jakir Hosen, Nicholas P. Day