Researcher
Jeroen Breckpot
- Disciplines:Genetics, Systems biology, Medical imaging and therapy, Molecular and cell biology, Other paramedical sciences
Affiliations
- Department of Human Genetics (Department)
Member
From1 Oct 2016 → Today - Laboratory for Genetics of Human Development (Division)
Member
From1 Apr 2009 → 31 Aug 2014
Projects
1 - 3 of 3
- Study of genomic modifiers underlying phenotypic variability of congenital heart defects and developmental disordersFrom1 Oct 2019 → TodayFunding: FWO fellowships
- Deep familial phenotyping and genotyping to resolve phenotypic variability of inherited pathogenic genetic variantsFrom1 Oct 2019 → 30 Sep 2023Funding: BOF - projects
- Genetic origin of congenital heart defects in Tunisian population ( a clinical and laboratory approach)From1 Sep 2018 → 2 Sep 2021Funding: Own budget, for example: patrimony, inscription fees, gifts
Publications
1 - 10 of 117
- Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.(2024)
Authors: Ann Swillen, Jeroen Breckpot, Joris Vermeesch, Koenraad Devriendt
Pages: 368.e1 - 368.e12 - Terminal triplications of 1p36.3, including GABRD and SKI, are causing a remarkable overlapping facial and developmental phenotype(2024)
Authors: Elise Pelgrims, Catia Attanasio, Ann Swillen, Jeroen Breckpot
Pages: 457 - 457 - Prenatal-onset hypertrophic cardiomyopathy in 47 patients with RASopathies: understanding phenotypegenotype correlations for risk stratification, medical management and targeted therapies assessment through an international cohort study(2024)
Authors: Jeroen Breckpot
Pages: 43 - 43 - Large-scale data-driven analysis to understand the contribution of rare variants to congenital heart disease(2024)
Authors: Alejandro Sifrim, Jeroen Breckpot
Pages: 13 - 13 - Exome-based case-control study identifies NOTCH1 variants as the major monogenic cause of CHD(2024)
Authors: Jeroen Breckpot, Alejandro Sifrim
Pages: 422 - 422 - Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome(2023)
Authors: Catia Attanasio, Elise Pelgrims, Mio Aerden, Anne Rochtus, Ann Swillen, Alejandro Sifrim, Jeroen Breckpot
- Biallelic mutations in the CFHR genes underlying atypical hemolytic uremic syndrome in a patient with catastrophic adult-onset Still's disease and recurrent macrophage activation syndrome: A case report(2023)
Authors: Luna Dillemans, Youri Bekhuis, Lien De Somer, Patrick Matthys, Jeroen Breckpot, Thomas Tousseyn, Marijke Peetermans, Paul Proost, Carine Wouters, Steven Vanderschueren
- Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return(2023)
Authors: Marc Gewillig, Jeroen Breckpot
Pages: 1430 - 1439 - Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI(2023)
Authors: Johanna Jacobs, Lucas Van Aelst, Jeroen Breckpot, Ward Heggermont, Rik Willems, Jan Bogaert, Tomas Robyns
Pages: 1323 - 1332 - Cell-free DNA methylome analysis for early preeclampsia prediction(2023)
Authors: Marie De Borre, Lore Lannoo, Kobe De Ridder, Mio Aerden, Jeroen Breckpot, Koenraad Devriendt, Joris Vermeesch, Kristel Van Calsteren, Bernard Thienpont
Pages: 2206 - +