Thompson, Deborah

Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies

Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Loman, N., Olsson, H., Johannsson, O., Borg, Å., et al. (2003) · The American Journal of Human Genetics

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

Cited by 3,680

Genome-wide association study identifies novel breast cancer susceptibility loci

Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature

Genetic Associations and EpidemiologyBRCA gene mutations in cancer

Cited by 2,319

A saturated map of common genetic variants associated with human height

Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., Sakaue, S., Graff, M., Eliasen, A. U., Jiang, Y., Raghavan, S., et al. (2022) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 825

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

The Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics

BRCA gene mutations in cancerDNA Repair Mechanisms

Cited by 746

Using human genetics to understand the disease impacts of testosterone in men and women

The Endometrial Cancer Association Consortium, Ruth, K. S., Day, F. R., Tyrrell, J., Thompson, D. J., Wood, A. R., Mahajan, A., Beaumont, R. N., Wittemans, L., Martin, S., et al. (2020) · Nature Medicine

Hormonal and reproductive studiesGenetic Associations and Epidemiology

Cited by 720

Rare and low-frequency coding variants alter human adult height

Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., et al. (2017) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 610

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Study, A. O. C., Perry, J. R. B., The GENICA Network, kConFab, Study, T. L. C., The InterAct Consortium, Early Growth Genetics (EGG) Consortium, Day, F., Elks, C. E., Sulem, P., et al. (2014) · Nature

Hypothalamic control of reproductive hormonesGenetic Associations and Epidemiology

Cited by 604

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 603

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Study, T. L. C., Day, F. R., The InterAct Consortium, kConFab/AOCS Investigators, Endometrial Cancer Association Consortium, Ovarian Cancer Association Consortium, PRACTICAL consortium, Thompson, D. J., Helgason, H., Chasman, D. I., et al. (2017) · Nature Genetics

Hypothalamic control of reproductive hormonesGenetic Associations and Epidemiology

Cited by 587

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

The PRACTICAL Consortium, Day, F. R., kConFab Investigators, AOCS Investigators, Scotland, G., EPIC-InterAct Consortium, Study, L. C., Ruth, K. S., Thompson, D. J., Lunetta, K. L., et al. (2015) · Nature Genetics

Genetic Associations and EpidemiologyBRCA gene mutations in cancer

Cited by 402

UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

Thompson, D. J., Wells, D., Selzam, S., Peneva, I., Moore, R., Sharp, K., Tarran, W. A., Beard, E. J., Riveros-Mckay, F., Giner-Delgado, C., et al. (2022) · medRxiv

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 280

Dissecting Causal Pathways Using Mendelian Randomization with Summarized Genetic Data: Application to Age at Menarche and Risk of Breast Cancer.

Burgess, S., Thompson, D. J., Rees, J. M. B., Day, F. R., Perry, J. R., & Ong, K. K. (2017) · Genetics

Genetic Associations and EpidemiologyAdvanced Causal Inference Techniques

Cited by 197

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

EMBRACE, Dunning, A. M., Collaborators, G. S., HEBON, kConFab Investigators, Michailidou, K., Kuchenbaecker, K. B., Thompson, D., French, J. D., Beesley, J., et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyEstrogen and related hormone effects

Cited by 161

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Tarpey, P. S., Stevens, C., Teague, J., Edkins, S., O’Meara, S., Avis, T., Barthorpe, S., Buck, G., Butler, A., Cole, J., et al. (2006) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersCellular transport and secretion

Cited by 123

Identification of Common Variants in the SHBG Gene Affecting Sex Hormone-Binding Globulin Levels and Breast Cancer Risk in Postmenopausal Women

Thompson, D. J., Healey, C. S., Baynes, C., Kalmyrzaev, B., Ahmed, S., Dowsett, M., Folkerd, E., Luben, R. N., Cox, D., Ballinger, D., et al. (2008) · Cancer Epidemiology, Biomarkers & Prevention

Genetic Associations and EpidemiologyEstrogen and related hormone effects

Cited by 61

A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density

Rudolph, A., Fasching, P. A., Behrens, S., Eilber, U., Bolla, M. K., Wang, Q., Thompson, D., Czene, K., Brand, J. S., Li, J., et al. (2015) · Breast Cancer Research

Digital Radiography and Breast ImagingGenetic Associations and Epidemiology

Cited by 24