0000-0002-1057-2438 Employment
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Publications (20)
- Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion. Save
- Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition Save
- A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature. Save
- Cover, Volume 42, Issue 11 Save
- GATA2 deficiency syndrome: A decade of discovery Save
- Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss Save
- Clinical implications of transient myeloproliferative disorder in a neonate without Down syndrome features. Save
- Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient. Save
- Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes. Save
- Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and Proteomics. Save