Area of research
Molecular Biology · Surgery
Research interest
Research interests include RNA and protein synthesis mechanisms, Pancreatic function and diabetes, RNA modifications and cancer, and RNA Research and Splicing.
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in<i>RFX6</i>
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in<i>IER3IP1</i>: insights into the natural history of a rare disorder