Area of research
Hematology · Genetics
Research interest
Research interests include Platelet Disorders and Treatments, Genomics and Rare Diseases, Blood disorders and treatments, and Antiplatelet Therapy and Cardiovascular Diseases.
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience
Whole-genome sequencing of patients with rare diseases in a national health system
Germline selection shapes human mitochondrial DNA diversity
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia
The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish