Katharina Wimmer

Innsbruck, 6020, Austria

Last Updated: 09/26/2026

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Found 75 publications

The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect.

The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect.

Journal: Biomolecules

Published: July 02, 2026

The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments.

The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments.

Journal: Familial cancer

Published: March 02, 2026

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

Journal: American journal of human genetics

Published: December 22, 2025

Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.

Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.

Journal: European journal of human genetics : EJHG

Published: October 31, 2025

Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.

Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.

Journal: European journal of human genetics : EJHG

Published: August 07, 2025

BRCA loss of function including BRCA1 DNA-methylation, but not BRCA-unrelated homologous recombination deficiency, is associated with platinum hypersensitivity in high-grade ovarian cancer.

BRCA loss of function including BRCA1 DNA-methylation, but not BRCA-unrelated homologous recombination deficiency, is associated with platinum hypersensitivity in high-grade ovarian cancer.

Journal: Clinical epigenetics

Published: August 02, 2024

Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Paris, France, November 16th 2022.

Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Paris, France, November 16th 2022.

Journal: Familial cancer

Published: May 16, 2024

Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort.

Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort.

Journal: Pediatric blood & cancer

Published: April 24, 2024

Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcomes.

Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcomes.

Journal: Cancers

Published: April 11, 2024

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.

Journal: European journal of human genetics : EJHG

Published: March 27, 2024

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.

Journal: NPJ precision oncology

Published: October 13, 2023

A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.

A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.

Journal: Clinical chemistry

Published: October 03, 2023

Showing 1-12 of 75

Last Updated: 09/26/2026