kathleen freson
Katholieke Universiteit Leuven
H-index: 49
Europe-Belgium
Top articles of kathleen freson
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1-and GFI1B-related thrombocytopenia
Journal of Thrombosis and Haemostasis
2023/12/15
Kathleen Freson
H-Index: 34
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework
Journal of Thrombosis and Haemostasis
2024/3/1
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
Genetics in Medicine
2024/2/5
Marcello Scala
H-Index: 7
Kathleen Freson
H-Index: 34
Importance of early career professionals in the SSC of the ISTH
Journal of Thrombosis and Haemostasis
2024/2/1
Kathleen Freson
H-Index: 34
Exploring the role of OXTR gene methylation in attachment development: A longitudinal study
Developmental psychobiology
2024/7
Kathleen Freson
H-Index: 34
Wim Van Den Noortgate
H-Index: 40
Stephan Claes
H-Index: 33
Jonathan Turner
H-Index: 24
Guy Bosmans
H-Index: 23
Thrombophilia Testing: from Genetic Predisposition to Discrimination
TH Open
2024/4
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants
Blood
2023/12/14
Turbulence Enhances Fine-Tuning of Mitochondria Delivery in Megakaryocyte Maturation Contributing to Biogenesis of High Quality Platelets
Blood
2023/11/28
Kathleen Freson
H-Index: 34
OC 65.5 Platelet-Specific Gene Dysregulation and Intron Retention in a Patient with Syndromic Thrombocytopenia
Research and Practice in Thrombosis and Haemostasis
2023/10/1
Blood coagulation and beyond: position paper from the Fourth Maastricht Consensus Conference on Thrombosis
Thrombosis and haemostasis
2023/8
Genetic Modifiers of Antihrombin, Protein C, and Protein S Plasma Levels
2023/7
Kathleen Freson
H-Index: 34
Ribosome dysfunction underlies SLFN14-related thrombocytopenia
Blood, The Journal of the American Society of Hematology
2023/5/4
Kathleen Freson
H-Index: 34
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
2023/4/1
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience
Journal of Thrombosis and Haemostasis
2023/4/1
Loss of APOLD1: a new vascular bleeding disorder?
Haematologica
2023/3/3
Kathleen Freson
H-Index: 34
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
Nature Medicine
2023/3
Daniel Greene
H-Index: 7
Paul Brennan
H-Index: 13
Julie Harvengt
H-Index: 4
Pia Ostergaard
H-Index: 21
Kathleen Freson
H-Index: 34
Aggregates of non-muscle myosin IIA in the erythrocytes associate with GATA1-related thrombocytopenia
Hämostaseologie
2023/2/20
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
2022/10/14
Neil V Morgan
H-Index: 36
Kathleen Freson
H-Index: 34
The analysis of the human megakaryocyte and platelet coding transcriptome in healthy and diseased subjects
2022/7/11
Kathleen Freson
H-Index: 34
Genetic association analysis of 269 rare diseases reveals novel aetiologies
medRxiv
2022/6/14
Daniel Greene
H-Index: 7
Paul Brennan
H-Index: 13
Julie Harvengt
H-Index: 4
Pia Ostergaard
H-Index: 21
Kathleen Freson
H-Index: 34
