John-paul P. Plazzer
Parkville, VIC 3050, Australia
Last Updated: 09/26/2026
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Found 33 publications
Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.
Journal: Scientific reports
Published: February 28, 2025
Characterization of Screening Strategies for Lynch Syndrome in Latin America.
Journal: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
Published: June 29, 2024
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank.
Journal: Journal of medical genetics
Published: November 28, 2023
Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.
Journal: Human mutation
Published: September 04, 2023
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 14, 2023
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
Journal: EClinicalMedicine
Published: October 12, 2022
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Journal: Hereditary cancer in clinical practice
Published: October 10, 2022
Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.
Journal: Hereditary cancer in clinical practice
Published: October 10, 2022
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Journal: Hereditary cancer in clinical practice
Published: December 03, 2021
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
Journal: Journal of clinical medicine
Published: May 24, 2021
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Journal: European journal of cancer (Oxford, England : 1990)
Published: December 19, 2020
Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.
Journal: Advanced genetics (Hoboken, N.J.)
Published: September 28, 2020
Last Updated: 09/26/2026