Véronique Paquis‐Flucklinger

This study identifies biallelic UQCC1 variants as a cause of early-onset mitochondrial disease by impairing complex III assembly and function.

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

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

This study shows that mutant CHCHD10 causes mitochondrial dysfunction and cardiomyopathy by disrupting cytochrome c oxidation and activating retrograde signaling.