Area of research
Physiology · Molecular Biology
Research interest
Research interests include Biology, Gene, Computational biology, Genetics, Genetic enhancement, and Organism.
AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Functional performance in late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), longitudinal data over 3 consecutive years
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3