Area of research
Cellular and Molecular Neuroscience · Genetics
Research interest
Research interests include Genetic Neurodegenerative Diseases, Genomics and Rare Diseases, Mitochondrial Function and Pathology, and Neurological disorders and treatments.
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]
The Key Features of a Genetic Nondiscrimination Policy
A second update on mapping the human genetic architecture of COVID-19
Mapping the human genetic architecture of COVID-19
The Data Use Ontology to streamline responsible access to human biomedical datasets
Genome-wide analysis of glutathione S-transferase gene family in G. max
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes