Area of research
Genetics · Immunology
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, T-cell and B-cell Immunology, and Chronic Obstructive Pulmonary Disease (COPD) Research.
Heterozygous variants in transmembrane channel-like 1 gene cause autosomalrecessive nonsyndromic hearing loss
Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches
Advances of Antisense Oligonucleotide Technology in the Treatment of Hereditary Neurodegenerative Diseases
LCK rs10914542-G allele associates with type 1 diabetes in children via T cell hyporesponsiveness
Relationship between genetic mutations and clinical phenotypes in patients with Wilson disease
Identification of pathways and genes associated with cerebral palsy
Antitumor activity of polysaccharide from Laminaria japonica on mice bearing H22 liver cancer