12 October 2017 | Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance | Patel, KA; Kettunen, J; Laakso, M; et al. |
17 July 2018 | PLIN1 haploinsufficiency is not associated with lipodystrophy | Laver, TW; Patel, KA; Colclough, K; et al. |
6 June 2016 | Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes. | Shepherd, M; Shields, B; Hammersley, S; 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. |
21 July 2017 | Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients | Shields, B; Shepherd, M; Hudson, M; 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. |
5 July 2019 | Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of < 5 years in the Iranian population | Yaghootkar, H; Abbasi, F; Ghaemi, N; et al. |
8 November 2019 | Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should lead to testing for MODY: Lessons from a 5-year pediatric Swedish national cohort study | Carlsson, A; Shepherd, M; Ellard, S; et al. |