Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include BRCA gene mutations in cancer, Genetic factors in colorectal cancer, Genomics and Rare Diseases, and Cancer Genomics and Diagnostics.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations
A new individually designed 3D printing guide plate-assisted internal fixator (INFIX) surgery for the treatment of pelvic fractures
Impaired bone healing by enoxaparin via inhibiting the differentiation of bone marrow mesenchymal stem cells towards osteoblasts
Rare Germline Pathogenic Mutations of DNA Repair Genes Are Most Strongly Associated with Grade Group 5 Prostate Cancer
Mutation prevalence tables for hereditary cancer derived from multigene panel testing
Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>CDH1</i> sequence variants
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results