Sylvie Bannwarth

This study reclassifies four novel mtDNA variants using single-cell NGS analysis, highlighting the need for functional evidence and standardized criteria in variant interpretation.

This study shows that MTPAP loss causes mitochondrial RNA processing defects, leading to type I interferon signaling upregulation through mt-dsRNA accumulation.

VIOLA prioritizes pathogenic variants in mitochondrial diseases using a variational autoencoder and outlier detection, outperforming existing methods in a patient cohort.