Area of research
Pathology and Forensic Medicine · Genetics
Research interest
Research focused on Genetics and Germline, with related work in Exome sequencing, Familial adenomatous polyposis, MUTYH. Notable publications include 'Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis', 'Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases', and 'Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies'.
Novel Genetic and Biochemical Insights into the Spectrum of <i>NEFL</i> -Associated Phenotypes
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis
Low-level <i>APC</i> mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies