Esther Schamschula

Innsbruck, 6020, Austria

Last Updated: 09/26/2026

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Found 13 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

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

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

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

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

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.

Journal: Gastroenterology

Published: September 08, 2022

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Journal: Biomolecules

Published: August 18, 2022

Array genotyping as diagnostic approach in medical genetics.

Array genotyping as diagnostic approach in medical genetics.

Journal: Molecular genetics & genomic medicine

Published: May 21, 2022

Disease-related blood-based differential methylation in cystic fibrosis and its representation in lung cancer revealed a regulatory locus in PKP3 in lung epithelial cells.

Disease-related blood-based differential methylation in cystic fibrosis and its representation in lung cancer revealed a regulatory locus in PKP3 in lung epithelial cells.

Journal: Epigenetics

Published: August 20, 2021

Sustained response to brigatinib in a patient with refractory metastatic pheochromocytoma harboring R1192P anaplastic lymphoma kinase mutation: a case report from the Austrian Group Medical Tumor Therapy next-generation sequencing registry and discussion of the literature.

Sustained response to brigatinib in a patient with refractory metastatic pheochromocytoma harboring R1192P anaplastic lymphoma kinase mutation: a case report from the Austrian Group Medical Tumor Therapy next-generation sequencing registry and discussion of the literature.

Journal: ESMO open

Published: February 02, 2021

Immunotyping of clinically divergent p.Phe508del homozygous monozygous cystic fibrosis twins.

Immunotyping of clinically divergent p.Phe508del homozygous monozygous cystic fibrosis twins.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: February 24, 2020

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

Journal: Human mutation

Published: September 25, 2019

Showing 1-12 of 13

Last Updated: 09/26/2026