Pierre Sujobert

VEXAS anemia is a mosaic erythroblastopenia

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

Single-cell genotype-phenotype mapping identifies therapeutic vulnerabilities in VEXAS syndrome

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

Panel Informativity Optimizer (PIO): an R package to improve cancer NGS panel informativity

PIO optimizes cancer NGS panel informativity by selecting genomic intervals to maximize patient coverage while minimizing panel size.

Hematopoietic differentiation is characterized by a transient peak of entropy at a single cell level.

The paper uses single-cell data to show that hematopoietic differentiation involves a transient peak of gene expression variability, suggesting a stochastic process with a stage of cellular indetermination.

Performances of targeted RNA-sequencing for the analysis of fusion transcripts, gene mutation and expression in haematological malignancies.

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.