Maël Heiblig

This study investigates VEXAS anemia, showing that UBA1 mutations affect erythroblast differentiation but not mature red cells, leading to a mosaic erythroblastopenia.

This study uses single-cell multi-omics to map genotype-to-phenotype relationships in VEXAS syndrome, identifying PERK pathway activation as a therapeutic target.

This study evaluates targeted RNA sequencing for detecting fusion transcripts, mutations, and expression in hematological malignancies, finding it effective for diagnosing leukemia subtypes and identifying most DNA mutations at the mRNA level.