Elli Papaemmanuil

This study identifies UBA1 mis-splicing as a therapeutic target in SF3B1-mutant myelodysplastic syndromes, showing that UBA1 inhibition sensitizes these cells to treatment.

The paper analyzes whole-genome sequencing data from a pan-cancer cohort to define HRD, showing it extends beyond BRCA1/2 mutations and highlights the benefits of WGS over commercial assays for HRD detection.

This study traces clonal evolution in high-risk neuroblastoma using genomic data from 470 samples, showing metastatic clones can remain dormant and later cause relapses.

The paper examines TP53 allelic states in MDS patients, finding that bi-allelic targeting is linked to worse outcomes, while mono-allelic targeting does not differ from wild-type patients.

This study identifies 100 SV hotspots and 31 new candidate driver genes in multiple myeloma, revealing that 63% of SVs remain unexplained and are associated with outlier gene expression.

The paper shows oncologic therapy increases clonal hematopoiesis with DDR mutations, which predicts risk of therapy-related myeloid neoplasms.