Sophie Momen

This study identifies BCOR mutations in hiPSCs as a culture-adaptive state causing chromatin, transcriptomic, and proteomic changes, and develops a qPCR assay for detection.

This study investigates neurodegeneration in Xeroderma pigmentosum using stem cell-derived neurons, identifying endoplasmic reticulum stress and UPS dysfunction as key factors and developing an early detection assay.

The paper identifies gene-specific mutational signatures caused by replication errors and endogenous DNA damage using CRISPR-Cas9 knockouts and whole-genome sequencing.

The paper analyzes indel distribution relative to transcription to show strand asymmetry and links it to DNA repair mechanisms in human cancers.