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Researcher
Kathleen Freson
- Disciplines:Cardiac and vascular medicine, Molecular and cell biology
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
11 - 20 of 21
- (Epi)Genetic studies and system biology approaches to characterize rare inherited bleeding and platelet disorders: from patient studies to basic biology to cl inical applicationsFrom1 Oct 2014 → 30 Sep 2018Funding: BOF - Concerted Research Project from 1994
- Lessons from pseudo(pseudo)hypoparathyroidism using platelets: (epi)genetic defects within and outside the imprinted GNAS cluster.From1 Jan 2014 → 31 Dec 2017Funding: FWO research project (including WEAVE projects)
- Pathofysiological characterization of megakarypoiesis using next generation sequencingFrom1 Sep 2013 → 13 Sep 2017Funding: BOF - Doctoral projects
- The biological consequences of pre- and postnatal stress: An epigenome-wide studyFrom21 Jan 2013 → 17 Feb 2017Funding: Own budget, for example: patrimony, inscription fees, gifts
- Pathophysiological characterization of megakaryopoiesis and platelet production: omics for thrombocytopenia and functional studies.From1 Jan 2013 → 31 Dec 2016Funding: FWO research project (including WEAVE projects)
- Role of Pituitary Adenylyl Cyclase-Activating Peptide (PACAP) in nephrotic syndrome.From1 Jan 2011 → 31 Dec 2016Funding: FWO research project (including WEAVE projects)
- Role of pituitary adenylate cyclase-activating polypeptide (PACAP) in nephrotic syndrome.From1 Oct 2010 → 11 Dec 2015Funding: FWO fellowships
- Human GNAS-related pathology: functional platelet studies and (epi)genetic assays.From1 Jan 2010 → 31 Dec 2015Funding: FWO research project (including WEAVE projects)
- Functional Peptidomics Knowledge Platform.From1 Oct 2009 → 30 Sep 2013Funding: IOF - Industrial Research Fund
- The (patho)physiological characterization of transcription factors and their target genes during megakaryopoiesis and platelet production.From1 Jan 2009 → 31 Dec 2014Funding: FWO research project (including WEAVE projects)
Publications
1 - 10 of 182
- Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.(2024)
Authors: Kathleen Freson
Pages: 1179 - 1186 - Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.(2024)
Authors: Kathleen Freson
Pages: 101097 - 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 - Turbulence Enhances Fine-Tuning of Mitochondria Delivery in Megakaryocyte Maturation Contributing to Biogenesis of High Quality Platelets(2023)
Authors: Kathleen Freson
- Blood Coagulation and Beyond: Position Paper from the Fourth Maastricht Consensus Conference on Thrombosis(2023)
Authors: Kathleen Freson, Peter Verhamme
Pages: 808 - 839 - Genetic Modifiers of Antihrombin, Protein C, and Protein S Plasma Levels(2023)
Authors: Kathleen Freson
Pages: 1322 - 1323 - Ribosome dysfunction underlies SLFN14-related thrombocytopenia(2023)
Authors: Fabienne Ver Donck, Kato Ramaekers, Kathelijne Peerlinck, Chris Van Geet, Veerle Labarque, Kathleen Freson
Pages: 2261 - 2274 - GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis (vol 19, pg 2612, 2021)(2023)
Authors: Kathleen Freson
Pages: 1067 - 1067 - Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience(2023)
Authors: Veerle Labarque, Thomas Vanassche, Chris Van Geet, Peter Verhamme, Kathelijne Peerlinck, Kathleen Freson
Pages: 887 - 895