Area of research
Physiology · Genetics
Research interest
Research interests include Erythrocyte Function and Pathophysiology, Hemoglobinopathies and Related Disorders, Blood groups and transfusion, and Blood properties and coagulation.
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy
Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper
The use of <scp>next‐generation</scp> sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*
A role of PIEZO1 in iron metabolism in mice and humans
Recommendations for diagnosis and treatment of methemoglobinemia
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis
Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of β-thalassemia
Recommendations regarding splenectomy in hereditary hemolytic anemias
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma