Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include BRCA gene mutations in cancer, Genetic Associations and Epidemiology, Genetic factors in colorectal cancer, and Nutrition, Genetics, and Disease.
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Population Study of Ovarian Cancer Risk Prediction for Targeted Screening and Prevention
Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families
Targeted Resequencing of the Coding Sequence of 38 Genes Near Breast Cancer GWAS Loci in a Large Case–Control Study
Prevalence of <i>BRCA1</i> and <i>BRCA2</i> pathogenic variants in a large, unselected breast cancer cohort
Differential Burden of Rare and Common Variants on Tumor Characteristics, Survival, and Mode of Detection in Breast Cancer
Genome-wide association study of paclitaxel and carboplatin disposition in women with epithelial ovarian cancer
Rare, protein-truncating variants in <i>ATM</i>, <i>CHEK2</i> and <i>PALB2</i>, but not <i>XRCC2</i>, are associated with increased breast cancer risks
Inherited mutations in <i>BRCA1</i> and <i>BRCA2</i> in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia
The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers
No evidence that protein truncating variants in <i>BRIP1</i> are associated with breast cancer risk: implications for gene panel testing
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array
Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers
Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression
Genome-wide association analysis identifies three new breast cancer susceptibility loci
Saliva samples are a viable alternative to blood samples as a source of DNA for high throughput genotyping