Balca R. Mardin

The paper identifies helicases as frequently mutated enzyme families in cancer, showing their role in genomic instability and DNA repair defects, with AQR as a novel hemizygous tumor suppressor.

The paper investigates how DNA repair genes influence Cas9-induced mutations by analyzing mutational outcomes across 2,838 synthetic targets in mouse cells, revealing gene-specific roles and improving predictive models.

This study investigates how 3D chromatin architecture influences and is influenced by somatic structural variants in cancer, showing an interplay between chromatin structure and SV formation.

The paper investigates the effects of monosomy in human cells, finding that it impairs proliferation and genomic stability, with partial gene dosage compensation and ribosome biogenesis stress contributing to p53 pathway activation.

This paper introduces scTRIP, a method to detect structural variations in single cells, revealing new SV classes and mutational processes in cancer samples.