Area of research
Genetics · Clinical Biochemistry
Research interest
Research interests include Genomics and Rare Diseases, Metabolism and Genetic Disorders, Hemoglobinopathies and Related Disorders, and Neonatal Health and Biochemistry.
Analysis of clinically relevant variants from ancestrally diverse Asian genomes
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Additional file 2 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8year journey from pilot to current program
A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase