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Researcher
Ann Swillen
- Disciplines:Genetics, Systems biology, Medical imaging and therapy, Molecular and cell biology, Other paramedical sciences
Affiliations
- Laboratory for Behaviour and Neurodevelopment (Division)
Responsible
From1 Oct 2019 → Today - Department of Human Genetics (Department)
Member
From1 Jan 2012 → Today - Research Group for Adapted Physical Activity and Psychomotor Rehabilitation (Division)
Member
From1 Oct 2005 → 31 Dec 2011 - Department of Rehabilitation Sciences (Department)
Member
From1 Oct 2002 → 30 Sep 2005
Projects
1 - 5 of 5
- Deep familial phenotyping and genotyping to resolve phenotypic variability of inherited pathogenic genetic variantsFrom1 Oct 2019 → 30 Sep 2023Funding: BOF - projects
- Segmental duplication structural variation as the cause for the 22q11DS phenotypic variabilityFrom1 Jan 2017 → 31 Dec 2020Funding: FWO research project (including WEAVE projects)
- Breakpoint variability as an explanation for phenotypical variation in 22q11DS.From1 Aug 2013 → 11 Jun 2020Funding: IWT personal funding - strategic basic research grants
- Pragmatic language skills in children with 22q11.2 deletion syndrome and Williams syndromeFrom1 Oct 2012 → 31 Jan 2017Funding: Private funding of national origin - undefined
- Resequencing remaining allele in atypical 22q11 deletion carriers to identify genetic modifiers of the velo-cardio-facial syndrome (VCFS).From1 Jun 2009 → 31 May 2011Funding: Foreign foundations, funds with scientific view
Publications
1 - 10 of 119
- 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 - Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study(2024)
Authors: Karel David, Ann Swillen, Elfi Vergaelen, Brigitte Decallonne
- 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 - 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
- The relationship between oxidative stress and psychotic disorders in 22q11.2 deletion syndrome(2023)
Authors: Elfi Vergaelen, Ann Swillen
Pages: 16 - 21 - An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome(2023)
Authors: Ann Swillen
Pages: 860 - 868 - Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS(2023)
Authors: Ann Swillen, Jeroen Breckpot, Joris Vermeesch
- Neurodevelopmental profile and stages of regression in Phelan-McDermid syndrome(2023)
Authors: Lieven Lagae, Ann Swillen, Griet Van Buggenhout
Pages: 917 - 925 - Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt(2023)
Authors: Elise Pelgrims, Ann Swillen, Jeroen Breckpot
Pages: 1889 - 1899 - Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome(2023)
Authors: Ann Swillen