Emma L. Edghill

Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

Anna L. Gloyn, Ewan R. Pearson, Jennifer F. Antcliff et al. · New England Journal of Medicine · 2004 · 1.1K citations

Insulin gene mutations as a cause of permanent neonatal diabetes

Julie Støy, Emma L. Edghill, Sarah E. Flanagan et al. · Proceedings of the National Academy of Sciences · 2007 · 552 citations · Full text

Genetics, Insulin Signaling, Metabolic Syndrome +16

Mutations in PTF1A cause pancreatic and cerebellar agenesis

Gabrielle S. Sellick, Karen Barker, Irene Stolte‐Dijkstra et al. · Nature Genetics · 2004 · 457 citations

Genetic Disorder, Genetics, Ptf1a Cause Pancreatic +4

Insulin Mutation Screening in 1,044 Patients With Diabetes

Emma L. Edghill, Sarah E. Flanagan, Ann‐Marie Patch et al. · Diabetes · 2007 · 397 citations · Full text

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

Sarah E. Flanagan, Ann‐Marie Patch, Deborah Mackay et al. · Diabetes · 2007 · 356 citations · Full text

Molecular Physiology, Signal Transduction, Genetic Disorder +14