15 February 2018 | Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome | Habeb, AM; Flanagan, SE; Zulali, MA; 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. |
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. |
11 July 2014 | Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. | Raimondo, A; Chakera, AJ; Thomsen, SK; et al. |
5 April 2016 | Type 1 Diabetes Genetic Risk Score: a novel tool to discriminate monogenic and type 1 diabetes | Patel, KA; Oram, RA; Flanagan, SE; et al. |
3 October 2018 | Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease | Wakeling, MN; Laver, TW; Wright, CF; et al. |
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. |
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. |