Researcher
Bert Callewaert
- Keywords:connective tissue, cutis lax, mutation, mental retardation, zebrafish, arterial tortuosity syndrome, next generation sequencing, aneurysm, mouse model, congenital heart defect, Genetics
- Disciplines:Cardiac and vascular medicine not elsewhere classified, Cardiology, Paediatrics and neonatology not elsewhere classified, Neonatology, Paediatrics, Genetics, Vascular diseases
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → Today - Department of Pediatrics and medical genetics (Department)
Member
From1 Oct 2004 → 30 Sep 2018
Projects
1 - 10 of 15
- Generation and analysis of zebrafish models for human pathologyFrom1 Oct 2023 → 31 Mar 2024Funding: BOF - doctoral mandates
- Identifying antifibrotic targets in complementary disease models for Myhre syndrome, a Mendelian multisystemic and profibrotic disorderFrom1 Oct 2023 → TodayFunding: BOF - doctoral mandates
- An appraisal of the contribution of neural crest lineages in a zebrafish model for aortic dissectionFrom1 Jul 2023 → TodayFunding: Foreign private sponsor - undefined
- Regulatory landscaping: towards improved genetic diagnosis and therapy for SATB2-associated syndromeFrom1 Nov 2022 → TodayFunding: FWO fellowships
- Genetic predictors of joint shape and cartilage mechanicsFrom1 Oct 2022 → TodayFunding: BOF - projects
- Steunfonds Marguerite-Marie Delacroix: Regulatory landscaping: towards improved genetic diagnosis and therapy for SATB2-associated syndrome (Lisa Hamerlinck)From1 Jan 2022 → 31 Dec 2023Funding: Foundations, funds and other with scientific goal
- An integrated translational platform to improve the management and outcome of rare heritable connective tissue diseaseFrom1 Jan 2021 → TodayFunding: BOF - projects
- Research equipment for behavior analysis in zebrafish disease models.From1 Dec 2020 → 30 Nov 2022Funding: BOF - scientific equipment program
- Integrating clinical data, ultrastructural imaging, and pathophysiology to unravel cutis laxa syndromesFrom1 Jan 2020 → 31 Dec 2023Funding: FWO research project (including WEAVE projects)
- CRISPR/Cas9-mediated knock-in for variant testing and disease modeling in the zebrafish model systemFrom1 Jan 2020 → 31 Dec 2023Funding: FWO research project (including WEAVE projects)
Publications
31 - 40 of 171
- Disproportion and dysmorphism in an adult Belgian population with Turner syndrome : risk factors for chronic diseases?(2020)
Authors: An-Sofie Van de Kelft, Charlotte Lievens, Katya De Groote, LAURENT DEMULIER, Guy T'Sjoen, Margarita Craen, Bert Callewaert, Jean De Schepper
Pages: 258 - 266 - New insights on the clinical variability of FKBP10 mutations(2020)
Authors: Osama Essawi, Piyanoot Tapaneeyaphan, Charlotte Gistelinck, Fransiska Malfait, David Eyre, Tamer Essawi, Bert Callewaert
- Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer(2020)
Authors: Kezhi Yan, Justine Rousseau, Keren Machol, Laura A. Cross, Katherine E. Agre, Cynthia Forster Gibson, Anne Goverde, Kendra L. Engleman, Hannah Verdin, Elfride De Baere, et al.
- Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia(2020)Volume: 28
Authors: Aude Beyens, C. Adamo, E. Yilmaz Gulec, A. Gezdirici, P. Bonaldo, H. Bornaun, E. Brauchle, J. Brinckmann, W. P. Devine, B. Gangaram, et al.
Pages: 132 - 133 - Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects(2020)
Authors: Joyce Burger, Aude Beyens, Marjolijn Renard, Sander Barnhoorn, Christophe Casteleyn, Dieter Reinhardt, Benedicte Descamps, Christian Vanhove, Ingrid van der Pluijm, Jeroen Essers, et al.
Pages: 1476 - 1488 - Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)(2020)
Authors: Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, et al.
Pages: 374 - 374 - A clinical scoring system for congenital contractural arachnodactyly(2020)
Authors: Ilse Meerschaut, Wouter Steyaert, Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna de Burca, Anne Destrée, et al.
Pages: 124 - 131 - Two novel probands with Myhre syndrome identified through WES(2019)Volume: 27
Authors: Ilse Meerschaut, Aude Beyens, Wouter Steyaert, Riet De Rycke, Björn Menten, Katrien Bonte, Tine De Backer, Sandra Janssens, Fransiska Malfait, Joseph Panzer, et al.
Pages: 118 - 118 - Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities(2019)Volume: 27
Authors: Machteld Baetens, Tom Sante, Sarah Vergult, M. De Smet, S. Janssens, Olivier Vanakker, Bert Callewaert, Bruce Poppe, Annelies Dheedene, Björn Menten
Pages: 24 - 24 - De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome(2019)
Authors: Gregory Costain, Bert Callewaert, Heinz Gabriel, Tiong Y Tan, Susan Walker, John Christodoulou, Tamas Lazar, Julia Orkin, Simon Sadedin, Meaghan Snell, et al.
Pages: 1021 - 1026