Johannes Zschocke

A DNA methylation–based risk score improves prognostic stratification in myelodysplastic neoplasms

Myelodysplastic neoplasms (MDS) are clonal hematopoietic disorders characterized by ineffective hematopoiesis, cytopenias, and variable risk of progression to acute myeloid leukemia (AML). Although mutational data are already implemented into the most recent MDS risk models, (i.e...

The German S3-level guideline for the diagnosis and management of rare dental disorders

Abstract Objectives The aim of this German S3-level guideline project was to develop evidence-based recommendations to support professionals in the diagnosis and management of individuals with rare dental disorders. The research question was which form of dental care should be pa...

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

The identification of a pathogenic variant (PV) in one of the mismatch repair (MMR) genes confirms the diagnosis of Lynch syndrome (LS). Hence, the correct classification of MMR gene variants is of utmost importance for appropriate counselling, surveillance, and treatment of LS p...