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Researcher
Kathleen Freson
- Disciplines:Other basic sciences not elsewhere classified
Affiliations
- Centre for Molecular and Vascular Biology (Division)
Responsible
From1 Jul 2016 → Today - Centre for Molecular and Vascular Biology (Division)
Member
From1 Oct 1999 → Today
Projects
1 - 10 of 21
- Omics and cell-based disease models to explore novel causes of bleedingFrom23 Nov 2023 → TodayFunding: Own budget, for example: patrimony, inscription fees, gifts
- Omics and cell-based disease models to explore novel causes of inherited bleedingFrom1 Oct 2023 → TodayFunding: BOF - projects
- Whole genome and RNA sequencing for platelet disordersFrom3 Nov 2021 → TodayFunding: Own budget, for example: patrimony, inscription fees, gifts
- Improved disease modelling and genetics for inherited platelet disordersFrom1 Oct 2021 → TodayFunding: FWO fellowships
- Improved disease modelling and genetics for inherited platelet disordersFrom1 Jan 2021 → TodayFunding: FWO research project (including WEAVE projects)
- Genome medicine for bleeding, thrombotic and platelet disordersFrom1 Oct 2019 → 30 Sep 2023Funding: BOF - projects
- Pathophysiological characterization of megakaryopoiesis and erythropoiesis: whole genome sequencing and functional studiesFrom4 Sep 2017 → 2 Sep 2021Funding: Own budget, for example: patrimony, inscription fees, gifts
- Blood cell counts in human and animal researchFrom1 Oct 2016 → 30 Sep 2018Funding: Fund Recuperation Fiscal Exemption
- Interdiscplinary Training in High-Troughput Sequencing, Bioinformatics and Model Systems: Moving towards Clinical applications of GenomicsFrom1 Jan 2016 → 31 Dec 2018Funding: H2020-EU.4. - Spreading excellence and widening participation
- The study of granule biogenesis during megakaryopoiesis from insights of known and novel genetic granule deficienciesFrom1 Oct 2015 → 31 Aug 2020Funding: FWO Strategic Basic Research Grant
Publications
1 - 10 of 169
- Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders(2024)
Authors: Els Ortibus, Kathleen Freson
- Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTH.(2024)
Authors: Kathleen Freson
Pages: S1538-7836 - Exploring the role of OXTR gene methylation in attachment development: A longitudinal study(2024)
Authors: Kathleen Freson, Wim Van Den Noortgate, Karla Van Leeuwen, Patricia Bijttebier, Guy Bosmans
- Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder(2024)
Authors: Veerle Labarque, Kathleen Freson
- Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia(2024)
Authors: Kathleen Freson
Pages: 1179 - 1186 - Thrombophilia Testing: from Genetic Predisposition to Discrimination.(2024)
Authors: Kathleen Freson, Peter Verhamme, Thomas Vanassche
Pages: e177 - e180 - Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework(2024)
Authors: Kathleen Freson
Pages: 645 - 665 - Importance of early career professionals in the SSC of the ISTH(2024)
Authors: Kathleen Freson
Pages: 309 - 310 - The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants(2023)
Authors: Kathleen Freson
Pages: 2055 - 2068 - Blood Coagulation and Beyond: Position Paper from the Fourth Maastricht Consensus Conference on Thrombosis(2023)
Authors: Kathleen Freson, Peter Verhamme
Pages: 808 - 839