Area of research
Genetics · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Genomics and Rare Diseases, Cardiomyopathy and Myosin Studies, Congenital heart defects research, and Peripheral Neuropathies and Disorders.
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]
Abstract 4147671: Exosomes from Induced Pluripotent Stem Cell-Derived Cardiomyocytes, miRNA, and siRNA Restore the Porcine Chronic Myocardial Injury Model
Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy
Mapping the human genetic architecture of COVID-19
Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy
Small-molecule probe reveals a kinase cascade that links stress signaling to TCF/LEF and Wnt responsiveness
Abstract 274: Activation of CaMKII Signaling Pathway Contributes to the Pathogenesis of Genetic Hypertrophic Cardiomyopathy
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes