Area of research
Genetics · Molecular Biology
Research interest
Research interests include BRCA gene mutations in cancer, Genetic Associations and Epidemiology, Estrogen and related hormone effects, and Glutathione Transferases and Polymorphisms.
An Interpretable Sparse Graph Contrastive Learning Approach for Identifying Breast Cancer Risk Variants
FinnGen provides genetic insights from a well-phenotyped isolated population
Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy
Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival
Distinct Reproductive Risk Profiles for Intrinsic-Like Breast Cancer Subtypes: Pooled Analysis of Population-Based Studies
Rare germline copy number variants (CNVs) and breast cancer risk
A Genome-Wide Gene-Based Gene–Environment Interaction Study of Breast Cancer in More than 90,000 Women
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
Rare Copy Number Variants (CNVs) and Breast Cancer Risk
Rare copy number variants (CNVs) and breast cancer risk
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
The <i>BRCA2</i> c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
<i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Body mass index and breast cancer survival: a Mendelian randomization analysis
<i>PHIP</i>- a novel candidate breast cancer susceptibility locus on 6q14.1
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent
<i>PALB2</i>, <i>CHEK2</i> and <i>ATM</i> rare variants and cancer risk: data from COGS
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
No evidence that protein truncating variants in <i>BRIP1</i> are associated with breast cancer risk: implications for gene panel testing
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
Genetic predisposition to ductal carcinoma in situ of the breast
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)
Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry
Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes
rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk
Identification of Novel Genetic Markers of Breast Cancer Survival
Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis