Area of research
Hematology · Immunology and Allergy
Research interest
Research interests include Platelet Disorders and Treatments, Cell Adhesion Molecules Research, Blood groups and transfusion, and Blood properties and coagulation.
Platelet-derived integrin- and tetraspanin-enriched tethers exacerbate severe inflammation.
A gain of function variant in RGS18 candidate for a familial mild bleeding syndrome.
APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis
Healing through the lens of immunothrombosis: Biology-inspired, evolution-tailored, and human-engineered biomimetic therapies
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Platelet glycoprotein VI promotes metastasis through interaction with cancer cell-derived Galectin-3
Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding
Mutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α‐granules
Phenotype analysis and clinical management in a large family with a novel truncating mutation in RASGRP2, the CalDAG‐GEFI encoding gene
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
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
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia
Recommendations for the standardization of light transmission aggregometry: a consensus of the working party from the platelet physiology subcommittee of SSC/ISTH
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome