Charlotte L. Alston

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

The paper identifies bi-allelic ATG12 variants causing a neurodevelopmental disorder by impairing autophagy, with clinical and functional evidence from patient cells, yeast, and zebrafish models.

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.