12 October 2017 | Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance | Patel, KA; Kettunen, J; Laakso, M; et al. |
16 July 2017 | Neuropsychological impairments in children with KCNJ11 neonatal diabetes | Bowman, P; Hattersley, AT; Knight, BA; et al. |
5 August 2017 | Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement. | McDonald, TJ; Besser, RE; Perry, M; 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. |
15 February 2018 | Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome | Habeb, AM; Flanagan, SE; Zulali, MA; et al. |
17 July 2018 | PLIN1 haploinsufficiency is not associated with lipodystrophy | Laver, TW; Patel, KA; Colclough, K; et al. |
9 June 2016 | Isolated pancreatic aplasia due to a hypomorphic PTF1A mutation | Houghton, JA; Swift, GH; Shaw-Smith, C; 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 April 2014 | GATA4 mutations are a cause of neonatal and childhood-onset diabetes | Shaw-Smith, C; De Franco, E; Lango Allen, H; et al. |
1 November 2016 | Low IgE is a useful tool to identify STAT3 gain-of-functionmMutations. | Johnson, MB; Flanagan, SE; Martins, TB; et al. |