Publications
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. Pediatr Diabetes 15, 67-72 (2014).
Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism. J Med Genet 52, 612-6 (2015).