Author
Institute of Genetic and Biomedical ResearchORCID 0000-0002-6047-4625Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Giovanna Mantica, Aditi Vedi, Amos Tuval…·Elisa Laurenti
This study investigates how DNMT3A-R882 mutations affect HSC differentiation into immune cells, finding they drive dysfunctional neutropoiesis linked to immune dysregulation and inflammatory disease risk.
Eric Latorre Crespo, Neil Robertson, Esra Gozde Kosebent…·Kristina Kirschner
The paper investigates how mutation timing, fitness, and clonal structure influence the clinical progression of clonal hematopoiesis using longitudinal cohort data.
Jennifer E. Huffman, Jayna C. Nicholas, Julie M. Hahn…·Yoav Ben‐Shlomo
This study uses whole genome sequencing to identify 18 novel genetic loci associated with plasma fibrinogen levels, including variants more common in African populations and linked to liver-related traits and disease.
Fabio Busonero, Maristella Steri, Valeria Orrù…·Francesco Cucca
The paper identifies a rare Sardinian founder mutation in GP1BB associated with thrombocytopenia and reduced GPIb-IX-V complex expression.