Sophie Momen

A practical framework and online tool for mutational signature analyses show intertissue variation and driver dependencies

Andrea Degasperi, Tauanne Dias Amarante, Jan Czarnecki et al. · Nature Cancer · 2020 · 333 citations · Full text

Genetics, Linkage Analysis, Genomics +16

Substitution mutational signatures in whole-genome–sequenced cancers in the UK population

Andrea Degasperi, Xueqing Zou, Tauanne Dias Amarante et al. · Science · 2022 · 272 citations · Full text

Bioinformatics, Whole-genome Sequencing, Functional Genomics +15

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Xueqing Zou, Gene Ching Chiek Koh, Arjun S. Nanda et al. · Nature Cancer · 2021 · 164 citations · Full text

Genome Instability, Medicine, Genetics +11

Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease

Sophie Momen, Hiva Fassihi, Helen Davies et al. · Molecular Case Studies · 2019 · 45 citations · Full text

Discriminating minor and major forms of drug reaction with eosinophilia and systemic symptoms: Facial edema aligns to the severe phenotype

Sophie Momen, Salvador J. Díaz‐Cano, Sarah Walsh et al. · Journal of the American Academy of Dermatology · 2021 · 36 citations

Drug Hypersensitivity, Allergy, Medicine +7