Emma L. Edghill

Publications by Year

Research Areas

Pancreatic function and diabetes, Diabetes and associated disorders, Diabetes Management and Research, Metabolism, Diabetes, and Cancer, Hyperglycemia and glycemic control in critically ill and hospitalized patients

Most-Cited Works

• → Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes(2004)1,136 cited
• → Insulin gene mutations as a cause of permanent neonatal diabetes(2007)554 cited
• → Mutations in PTF1A cause pancreatic and cerebellar agenesis(2004)457 cited
• → Insulin Mutation Screening in 1,044 Patients With Diabetes(2007)397 cited
• → Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood(2007)357 cited
• → Mutations in hepatocyte nuclear factor-1β and their related phenotypes(2005)339 cited
• → HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting(2009)273 cited
• → Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype(2006)227 cited
• → Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects(2007)213 cited
• → Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis(2010)208 cited