Esther Schamschula

5PUBLICATIONS
14CO-AUTHORS
Gene and molecular therapyLiquid biopsiesCancer geneticsEpigenetics (incl. genome methylation and epigenomics)
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Publications (5)

|Aug 27, 2026
The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect.

|May 24, 2024
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.

Richard Gallon, Carlijn Brekelmans, Marie Martin

|Oct 27, 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.

Esther Schamschula, Miriam Kinzel, Annekatrin Wernstedt

|Aug 20, 2021
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.

Esther Schamschula, Angelika Lahnsteiner, Yassen Assenov

|Mar 04, 2020
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

Katharina Wimmer, Esther Schamschula, Annekatrin Wernstedt

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Frequent Collaborators

4 joint publications

Katharina Wimmer

2 joint publications

Richard Gallon

1 joint publications

Johannes Zschocke

1 joint publications

Peter Kroisel