Siobhan O’Brien

The paper measures variant effects across the MAPK pathway in human cells, revealing how cell context influences variant function and identifying 14,412 previously unknown dominant negative variants.

The paper investigates transcriptional adaptation in paralog gene families using Perturb-seq, finding six paralog pairs show adaptation and identifying mechanisms like nonsense-mediated decay and nuclear import.

This paper develops a mouse model of RIT1M90I-driven lung cancer and identifies YAP/TEAD as a therapeutic target for RIT1-mutant lung cancer.

The paper identifies and functionally validates dynamically accessible chromatin regions in response to IL-1 stimulation using ATAC-seq and CRISPR/Cas9.