Published Works

• Degasperi, A., Zou, X., Amarante, T. D., Martinez-Martinez, A., Koh, G. C. C., Dias, J. M. L., Heskin, L., Chmelova, L., Rinaldi, G., Wang, V. Y. W., Nanda, A. S., Bernstein, A., Momen, S. E., Young, J., Perez-Gil, D., Memari, Y., Badja, C., Shooter, S., Czarnecki, J., Brown, M. A., … Nik-Zainal, S. (2022). Substitution mutational signatures in whole-genome-sequenced cancers in the UK population. Science (New York, N.Y.), 376(6591), science.abl9283. https://doi.org/10.1126/science.abl9283
• Koh, G., Degasperi, A., Zou, X., Momen, S., & Nik-Zainal, S. (2021). Mutational signatures: emerging concepts, caveats and clinical applications. Nature reviews. Cancer, 21(10), 619–637. https://doi.org/10.1038/s41568-021-00377-7
• Zou, X., Koh, G. C. C., Nanda, A. S., Degasperi, A., Urgo, K., Roumeliotis, T. I., Agu, C. A., Badja, C., Momen, S., Young, J., Amarante, T. D., Side, L., Brice, G., Perez-Alonso, V., Rueda, D., Gomez, C., Bushell, W., Harris, R., Choudhary, J. S., Genomics England Research Consortium, … Nik-Zainal, S. (2021). A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage. Nature cancer, 2(6), 643–657. https://doi.org/10.1038/s43018-021-00200-0
• Jones, C. L., Degasperi, A., Grandi, V., Amarante, T. D., Genomics England Research Consortium, Mitchell, T. J., Nik-Zainal, S., & Whittaker, S. J. (2021). Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma. Scientific reports, 11(1), 3962. https://doi.org/10.1038/s41598-021-83352-4
• Chopra, N., Tovey, H., Pearson, A., Cutts, R., Toms, C., Proszek, P., Hubank, M., Dowsett, M., Dodson, A., Daley, F., Kriplani, D., Gevensleben, H., Davies, H. R., Degasperi, A., Roylance, R., Chan, S., Tutt, A., Skene, A., Evans, A., Bliss, J. M., … Turner, N. C. (2020). Homologous recombination DNA repair deficiency and PARP inhibition activity in primary triple negative breast cancer. Nature communications, 11(1), 2662. https://doi.org/10.1038/s41467-020-16142-7
• Degasperi, A., Amarante, T. D., Czarnecki, J., Shooter, S., Zou, X., Glodzik, D., Morganella, S., Nanda, A. S., Badja, C., Koh, G., Momen, S. E., Georgakopoulos-Soares, I., Dias, J. M. L., Young, J., Memari, Y., Davies, H., & Nik-Zainal, S. (2020). A practical framework and online tool for mutational signature analyses show inter-tissue variation and driver dependencies. Nature cancer, 1(2), 249–263. https://doi.org/10.1038/s43018-020-0027-5
• Momen, S., Fassihi, H., Davies, H. R., Nikolaou, C., Degasperi, A., Stefanato, C. M., Dias, J. M. L., Dasgupta, D., Craythorne, E., Sarkany, R., Papa, S., & Nik-Zainal, S. (2019). 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. Cold Spring Harbor molecular case studies, 5(5), a004408. https://doi.org/10.1101/mcs.a004408
• Maura, F., Degasperi, A., Nadeu, F., Leongamornlert, D., Davies, H., Moore, L., Royo, R., Ziccheddu, B., Puente, X. S., Avet-Loiseau, H., Campbell, P. J., Nik-Zainal, S., Campo, E., Munshi, N., & Bolli, N. (2019). A practical guide for mutational signature analysis in hematological malignancies. Nature communications, 10(1), 2969. https://doi.org/10.1038/s41467-019-11037-8
• Nones, K., Johnson, J., Newell, F., Patch, A. M., Thorne, H., Kazakoff, S. H., de Luca, X. M., Parsons, M. T., Ferguson, K., Reid, L. E., McCart Reed, A. E., Srihari, S., Lakis, V., Davidson, A. L., Mukhopadhyay, P., Holmes, O., Xu, Q., Wood, S., Leonard, C., Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), … Simpson, P. T. (2019). Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers. Annals of oncology : official journal of the European Society for Medical Oncology, 30(7), 1071–1079. https://doi.org/10.1093/annonc/mdz132
• Kucab, J. E., Zou, X., Morganella, S., Joel, M., Nanda, A. S., Nagy, E., Gomez, C., Degasperi, A., Harris, R., Jackson, S. P., Arlt, V. M., Phillips, D. H., & Nik-Zainal, S. (2019). A Compendium of Mutational Signatures of Environmental Agents. Cell, 177(4), 821–836.e16. https://doi.org/10.1016/j.cell.2019.03.001