My research focusses on understanding the genetic background of common diseases by identifying susceptibility variants, investigating the genetic architecture and predicting risk.
I have been working in Genetic Epidemiology of breast and ovarian cancer as well as of cardiovascular disease. Through my research I would like to contribute to advancing our understanding of the aetiology of common diseases and improve risk prediction. I am interested in exploring the genetic architecture of complex traits using data from genome-wide association and whole-genome sequencing studies. My expertise also comprises discovery of susceptibility variants, fine-mapping, Mendelian Randomisation and risk prediction.
In the Analytical Genomics group I am involved in the UKHLS and the HELIC studies.
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Nature genetics 2016;48;4;374-86
Selecting instruments for Mendelian randomization in the wake of genome-wide association studies.
International journal of epidemiology 2016;45;5;1600-1616
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Nature communications 2016;7;11375
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Nature genetics 2015;47;2;164-71
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci.
Human molecular genetics 2015;24;13;3595-607
HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials.
Lancet (London, England) 2015;385;9965;351-61
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
Breast cancer research : BCR 2014;16;6;3416
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
Journal of medical genetics 2013;50;6;360-7
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
PLoS genetics 2013;9;3;e1003173
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
Lancet (London, England) 2012;379;9822;1214-24