Alina D. Schmidt

This study uses ultra-deep exome sequencing to identify recurrent mutations in classical Hodgkin lymphoma HRS cells, demonstrating its utility for analyzing genomic variants in large patient cohorts.

The paper identifies a mitofusin 2 mutation (R400Q) that causes mitophagic cardiomyopathy by impairing mitochondrial fusion and Parkin recruitment, distinct from its role in CMT2A.

The paper identifies an enhancer-IVL regulatory module that evolved in humans and is associated with skin barrier adaptation and atopic dermatitis risk.

This paper establishes a standard operating procedure for manual refinement of somatic variants in tumor sequencing data to improve consistency and reproducibility.