Hanson, Helen

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Pairo-Castineira, E., Rawlik, K., Bretherick, A. D., Qi, T., Wu, Y., Nassiri, I., McConkey, G. A., Zechner, M., Klaric, L., Griffiths, F., et al. (2023) · Nature

Genetic Associations and EpidemiologyCOVID-19 Clinical Research Studies

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A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations: Table 1

Wilson, J. R. F., Bateman, A. C., Hanson, H., An, Q., Evans, G., Rahman, N., Jones, J. L., & Eccles, D. M. (2010) · Journal of Medical Genetics

BRCA gene mutations in cancerBreast Lesions and Carcinomas

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The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

Philpott, S., Raikou, M., Manchanda, R., Lockley, M., Singh, N., Scott, M., Evans, D. G., Adlard, J., Ahmed, M., Edmondson, R., et al. (2023) · Journal of Medical Genetics

BRCA gene mutations in cancerOvarian cancer diagnosis and treatment

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Availability of benign missense variant ‘truthsets’ for validation of functional assays: current status and a systematic approach

Rowlands, C. F., Allen, S., Garrett, A., Durkie, M., Burghel, G. J., Robinson, R., Callaway, A., Field, J., Frugtniet, B., Palmer-Smith, S., et al. (2025) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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