kathleen freson
Katholieke Universiteit Leuven
H-index: 49
Europe-Belgium
Top articles of kathleen freson
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder | Genetics in Medicine | Andrea Accogli Young N Park Guy M Lenk Mariasavina Severino Marcello Scala | 2024/2/5 |
Importance of early career professionals in the SSC of the ISTH | Journal of Thrombosis and Haemostasis | Kathleen Freson Marc Carrier Cary Clark Joost CM Meijers | 2024/2/1 |
Exploring the role of OXTR gene methylation in attachment development: A longitudinal study | Developmental psychobiology | Bien Cuyvers Tsachi Ein-Dor Melisse Houbrechts Kathleen Freson Luc Goossens | 2024/7 |
Thrombophilia Testing: from Genetic Predisposition to Discrimination | TH Open | Andreas Verstraete Kathleen Freson Peter Verhamme Thomas Vanassche | 2024/4 |
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1-and GFI1B-related thrombocytopenia | Journal of Thrombosis and Haemostasis | Carlo Zaninetti Leonard Vater Sandra Ohlenforst Eva Leinøe Doris Böckelmann | 2023/12/15 |
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework | Journal of Thrombosis and Haemostasis | Justyne E Ross Shruthi Mohan Jing Zhang Mia J Sullivan Loredana Bury | 2024/3/1 |
Loss of APOLD1: a new vascular bleeding disorder? | Haematologica | Kathleen Freson | 2023/3/3 |
Blood coagulation and beyond: position paper from the Fourth Maastricht Consensus Conference on Thrombosis | Thrombosis and haemostasis | Asim Cengiz Akbulut Ryanne A Arisz Constance CFMJ Baaten Gaukhar Baidildinova Aarazo Barakzie | 2023/8 |
Genetic association analysis of 77,539 genomes reveals rare disease etiologies | Nature Medicine | Daniel Greene Genomics England Research Consortium Daniela Pirri Karen Frudd Ege Sackey | 2023/3 |
Genetic Modifiers of Antihrombin, Protein C, and Protein S Plasma Levels | Kathleen Freson | 2023/7 | |
Aggregates of non-muscle myosin IIA in the erythrocytes associate with GATA1-related thrombocytopenia | Hämostaseologie | L Vater C Zaninetti C Freyer J Rivera S Ohlenforst | 2023/2/20 |
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants | Blood | Luca Stefanucci Janine Collins Matthew C Sims Inigo Barrio-Hernandez Luanluan Sun | 2023/12/14 |
Ribosome dysfunction underlies SLFN14-related thrombocytopenia | Blood, The Journal of the American Society of Hematology | Fabienne Ver Donck Kato Ramaekers Chantal Thys Christine Van Laer Kathelijne Peerlinck | 2023/5/4 |
Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee … | Journal of Thrombosis and Haemostasis | Karyn Megy Kate Downes Marie-Christine Morel-Kopp José M Bastida Shannon Brooks | 2023/4/1 |
Turbulence Enhances Fine-Tuning of Mitochondria Delivery in Megakaryocyte Maturation Contributing to Biogenesis of High Quality Platelets | Blood | Emiri Nakamura Yasuo Harada Koenraad De Wispelaere Chantal Thys Kathleen Freson | 2023/11/28 |
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience | Journal of Thrombosis and Haemostasis | Christine Van Laer Marc Jacquemin Sarissa Baert Veerle Labarque Chantal Thys | 2023/4/1 |
OC 65.5 Platelet-Specific Gene Dysregulation and Intron Retention in a Patient with Syndromic Thrombocytopenia | Research and Practice in Thrombosis and Haemostasis | F Ver Donck K De Wispelaere K Ramaekers C Thys V Labarque | 2023/10/1 |
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 | José M Bastida Stefano Malvestiti Doris Boeckelmann Verónica Palma-Barqueros Mira Wolter | 2022/10/14 |
The analysis of the human megakaryocyte and platelet coding transcriptome in healthy and diseased subjects | Koenraad De Wispelaere Kathleen Freson | 2022/7/11 | |
Genetic association analysis of 269 rare diseases reveals novel aetiologies | medRxiv | Daniel Greene Genomics England Research Consortium Daniela Pirri Karen Frudd Ege Sackey | 2022/6/14 |
