24 May 2016 | Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. | Clissold, RL; Shaw-Smith, C; Turnpenny, P; et al. |
31 March 2016 | Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes | Babiker, T; Vedovato, N; Patel, K; et al. |
2 April 2014 | GATA4 mutations are a cause of neonatal and childhood-onset diabetes | Shaw-Smith, C; De Franco, E; Lango Allen, H; et al. |
10 August 2015 | Expanding the Clinical Spectrum Associated With GLIS3 Mutations | Dimitri, P; Habeb, AM; Garbuz, F; et al. |
1 September 2016 | Prematurity should not prevent genetic testing for neonatal diabetes | Besser, RE; Flanagan, SE; Mackay, DG; et al. |
8 April 2016 | Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. | Fendler, W; Madzio, J; Kozinski, K; et al. |
27 April 2016 | Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. | Vedovato, N; Cliff, E; Proks, P; et al. |
2 August 2016 | The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes. | Laver, TW; Colclough, K; Shepherd, M; 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. |
29 June 2016 | Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes | De Franco, E; Caswell, R; Houghton, JA; et al. |