Area of research
Genetics · Pulmonary and Respiratory Medicine
Research interest
Research interests include Genomics and Rare Diseases, BRCA gene mutations in cancer, Prostate Cancer Diagnosis and Treatment, and Prostate Cancer Treatment and Research.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>
<i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Psychosocial impact of undergoing prostate cancer screening for men with <i> <scp>BRCA</scp> 1 or <scp>BRCA</scp> 2 </i> mutations
Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer