Area of research
Genetics · Molecular Biology
Research interest
Research interests include Biology, Organoid, Lipid metabolism, Malabsorption, Lipid droplet, and Retinoblastoma.
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
Natural helix 9 mutants of PPARγ differently affect its transcriptional activity
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes