Evelin Schröck

Oncogene inactivation-induced senescence facilitates tumor relapse

This study shows that oncogene inactivation-induced senescence both limits tumor growth and promotes relapse by creating a pro-recurrence microenvironment.

Prospective pan-cancer phosphoproteomics at clinical scale extends therapeutic options in precision oncology

This study uses pan-cancer phosphoproteomics to identify therapeutic targets and improve precision oncology by analyzing 1,998 tumor samples and developing new scores for kinase activity and immune response.

Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephalic cortical malformation

The paper uses cerebral organoids from patients with actin mutations to show that altered cleavage plane orientation in ventricular zone progenitors leads to microcephaly.

Genomic and biological panoramas of non-muscle actinopathies

The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

Clinical criteria for genetic testing in pediatric oncology show a low specificity and miss every 4th child carrying a cancer predisposition

The paper evaluates clinical checklists for genetic testing in pediatric oncology, finding low specificity and missing 25% of children with cancer predisposition variants.

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations

The paper reports a new clinical syndrome linked to ACTB mutations, characterized by thrombocytopenia, microcephaly, and developmental disability, and identifies altered cytoskeletal interactions in affected cells.