Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Biology, Mitochondrial DNA, Genetics, Pathogenicity, Mitochondrial disease, and Heteroplasmy.
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction
Corrigendum to “Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction” [Molecular Genetics and Metabolism 144 (2025); 109049]
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
Germline selection shapes human mitochondrial DNA diversity
Atypical periodic paralysis and myalgia