Margarete A. Fabre

This study identifies 26,963 individuals with clonal haematopoiesis without known genetic drivers (CH-UD) and finds strong genetic and phenotypic links to other forms of clonal haematopoiesis, implicating TCL1A and epigenetic changes.

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.

The paper uses population-scale whole genome sequencing to identify EBV DNA as a biomarker for respiratory, autoimmune, and cardiovascular diseases and identifies genetic determinants of EBV persistence.

The paper analyzes CYP2D6 genetic variation across 479,144 UK Biobank genomes, identifying structural and rare variants, and their clinical associations across ancestries.

This study compares clonal haematopoiesis (CH) between admixed Americans and Europeans, finding ancestry-specific genetic factors and lower CH prevalence in admixed populations.

The paper identifies 53 rare variants and 22 genes associated with telomere length using UK Biobank whole-genome sequences, highlighting their role in clonal haematopoiesis and disease.

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

This study tracks clonal dynamics in human haematopoiesis across age, finding that clonal diversity sharply declines after 70, driven by positive selection on many genes and loss of Y chromosome in males.