8 April 2019 | Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated | Johnson, MBJ; De Franco, E; Atma W Greeley, S; et al. |
3 May 2017 | Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts | De Franco, E; Flanagan, SE; Yagi, T; et al. |
7 February 2017 | Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes | Day, JO; Flanagan, SE; Shepherd, MH; et al. |
27 December 2019 | De novo mutations in EIF2B1 affecting eIF2 signaling cause neonatal/early onset diabetes and transient hepatic dysfunction | De Franco, E; Caswell, R; Johnson, M; et al. |
4 June 2018 | Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study | Bowman, P; Sulen, Å; Barbetti, F; et al. |
18 December 2019 | Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-K ATP -channel pathways | Bowman, P; McDonald, TJ; Knight, BA; et al. |
27 November 2018 | Future Roadmaps for Precision Medicine Applied to Diabetes: Rising to the Challenge of Heterogeneity | Bowman, P; Flanagan, SE; Hattersley, AT |
16 January 2013 | Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency | De Franco, E; Shaw-Smith, C; Flanagan, SE; et al. |
6 December 2012 | GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency | De Franco, E; Shaw-Smith, C; Flanagan, SE; et al. |
18 April 2019 | A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development | De Franco, E; Watson, RA; Weninger, WJ; et al. |