Kathleen Freson (K Freson)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 28

Top Venues

Nature medicine

Journal of thrombosis and haemostasis : JTH

Blood

Research and practice in thrombosis and haemostasis

Katholieke Universiteit Leuven

Katholieke Universiteit Leuven (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Katholieke Universiteit Leuven Oct 01 1998

Belgium

Prof :: Cardiovascular Sciences

Education History

Katholieke Universiteit Leuven Oct 01 1998

Belgium

PHD :: Center for Molecular and Vascular Biology

Katholieke Universiteit Leuven

Belgium

MSC :: Bio Engineer

Publications

Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus, Andrew D Mumford, Kathleen Freson, Ernest Turro
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature medicine (2024)
Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus, Andrew D Mumford, Kathleen Freson, Ernest Turro
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature medicine (2024)
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Andrea Katrinecz, Sonia Pascoal, Emma Hales, Marta Codina Solà, Maria Irene Valenzuela Palafoll, Eduardo F Tizzano, Giles Atton, Deirdre Donnelly, Nicola Foulds, Joanna Jarvis, Shane McKee, Michael O'Donoghue, Mohnish Suri, Pradeep Vasudevan, Kathy Stirrups, Natasha P Morgan, Kathleen Freson, Andrew D Mumford, Ernest Turro
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy. medRxiv : the preprint server for health sciences (2024)
Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus, Andrew D Mumford, Kathleen Freson, Ernest Turro
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature medicine (2024)
Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus, Andrew D Mumford, Kathleen Freson, Ernest Turro
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature medicine (2024)
Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus, Andrew D Mumford, Kathleen Freson, Ernest Turro
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature medicine 30 (8) (2024)
Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus, Andrew D Mumford, Kathleen Freson, Ernest Turro
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature medicine 30 (8) (2024)
Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus, Andrew D Mumford, Kathleen Freson, Ernest Turro
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature medicine (2024)
Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus, Andrew D Mumford, Kathleen Freson, Ernest Turro
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature medicine (2024)
Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus, Andrew D Mumford, Kathleen Freson, Ernest Turro
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature medicine 30 (8) (2024)
Fabienne Ver Donck, Kato Ramaekers, Chantal Thys, Christine Van Laer, Kathelijne Peerlinck, Chris Van Geet, Koji Eto, Veerle Labarque, Kathleen Freson
Ribosome dysfunction underlies SLFN14-related thrombocytopenia. Blood (2023)
Kathleen Freson
Genetic Modifiers of Antithrombin, PC (Protein C), and PS (Protein S) Plasma Levels. Arteriosclerosis, thrombosis, and vascular biology (2023)
Koenraad De Wispelaere, Kathleen Freson
The Analysis of the Human Megakaryocyte and Platelet Coding Transcriptome in Healthy and Diseased Subjects. International journal of molecular sciences 23 (14) (2022)
José Maria Bastida, Stefano Malvestiti, Doris Boeckelmann, Verónica Palma-Barqueros, Mira Wolter, María Luisa Lozano, Hannah Glonnegger, Rocío Benito, Carlo Zaninetti, Felix Sobotta, Freimut H Schilling, Neil V Morgan, Kathleen Freson, José Rivera, Barbara Zieger
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger. Cells 11 (20) (2022)
Fabienne Ver Donck, Kate Downes, Kathleen Freson
Strengths and limitations of high-throughput sequencing for the diagnosis of inherited bleeding and platelet disorders. Journal of thrombosis and haemostasis : JTH 18 (8) (2021)
Fabienne Ver Donck, Veerle Labarque, Kathleen Freson
Hemostatic phenotypes and genetic disorders. Research and practice in thrombosis and haemostasis 5 (8) (2021)
Andrew L Frelinger, José Rivera, David E Connor, Kathleen Freson, Andreas Greinacher, Paul Harrison, Shinji Kunishima, Marie Lordkipanidzé, Alan D Michelson, Sofia Ramström, Paolo Gresele
Consensus recommendations on flow cytometry for the assessment of inherited and acquired disorders of platelet number and function: Communication from the ISTH SSC Subcommittee on Platelet Physiology. Journal of thrombosis and haemostasis : JTH 19 (12) (2021)
Karyn Megy, Kate Downes, Marie-Christine Morel-Kopp, José Maria Bastida, Shannon Brooks, Loredana Bury, Eva Leinoe, Keith Gomez, Neil V Morgan, Maha Othman, Willem H Ouwehand, Juliana Perez Botero, José Rivera, Harald Schulze, David-Alexandre Trégouët, Kathleen Freson
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. Journal of thrombosis and haemostasis : JTH 19 (10) (2021)
Imane Boukhatem, Samuel Fleury, Melanie Welman, Jessica Le Blanc, Chantal Thys, Kathleen Freson, Myron G Best, Thomas Würdinger, Bruce G Allen, Marie Lordkipanidzé
The brain-derived neurotrophic factor prompts platelet aggregation and secretion. Blood advances 5 (18) (2021)
Kate Downes, Pascal Borry, Katrin Ericson, Keith Gomez, Andreas Greinacher, Michele Lambert, Eva Leinoe, Patrizia Noris, Chris Van Geet, Kathleen Freson, null null
Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH. Journal of thrombosis and haemostasis : JTH 18 (10) (2021)
Lore De Kock, Kathleen Freson
The (Patho)Biology of SRC Kinase in Platelets and Megakaryocytes. Medicina (Kaunas, Lithuania) 56 (12) (2020)
Karyn Megy, Kate Downes, Ilenia Simeoni, Loredana Bury, Joannella Morales, Rutendo Mapeta, Daniel B Bellissimo, Paul F Bray, Anne C Goodeve, Paolo Gresele, Michele Lambert, Pieter Reitsma, Willem H Ouwehand, Kathleen Freson, null null
Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH. Journal of thrombosis and haemostasis : JTH 17 (8) (2019)
Manisha Padmakumar, Eveline Van Raes, Chris Van Geet, Kathleen Freson
Blood platelet research in autism spectrum disorders: In search of biomarkers. Research and practice in thrombosis and haemostasis 3 (4) (2019)
Inga Hofmann, Mitchell Jon Geer, Timo Vögtle, Andrew Crispin, Dean R Campagna, Alastair J Barr, Monica L Calicchio, Silke Heising, Johanna P van Geffen, Marijke J E Kuijpers, Johan W M Heemskerk, Johannes A Eble, Klaus Schmitz-Abe, Esther A Obeng, Michael Douglas, Kathleen Freson, Corinne Pondarré, Rémi Favier, Gavin E Jarvis, Kyriacos Markianos, Ernest Turro, Willem Hendrik Ouwehand, Alexandra Mazharian, Mark Daniel Fleming, Yotis A Senis
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. Blood 132 (13) (2018)
J Heremans, Kathleen Freson
High-throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders. International journal of laboratory hematology (2018)
Benedetta Izzi, Fabrizia Noro, Katrien Cludts, Kathleen Freson, Marc F Hoylaerts
Cell-Specific PEAR1 Methylation Studies Reveal a Locus that Coordinates Expression of Multiple Genes. International journal of molecular sciences 19 (4) (2018)
Claire Lentaigne, Kathleen Freson, Michael A Laffan, Ernest Turro, Willem Hendrik Ouwehand, null null
Inherited platelet disorders: toward DNA-based diagnosis. Blood 127 (23) (2016)
Benedetta Izzi, Mariaelena Pistoni, Katrien Cludts, Pinar Akkor, Diether Lambrechts, Catherine M Verfaillie, Peter Verhamme, Kathleen Freson, Marc F Hoylaerts
Allele-specific DNA methylation reinforces PEAR1 enhancer activity. Blood 128 (7) (2016)

Kathleen Freson.css-eqlu8i{font-size:small;padding-left:4px;} (K Freson)

Publication Activity (10 Years)

Top Topics

Top Venues

Kathleen Freson (K Freson)