Area of research
Neurology · Molecular Biology
Research interest
Research interests include Myasthenia Gravis and Thymoma, Migration, Ethnicity, and Economy, Mitochondrial Function and Pathology, and RNA Research and Splicing.
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Workflow for E3 Ligase Ligand Validation for PROTAC Development
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia