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. |
7 October 2021 | Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study
| Locke, JM; Dusatkova, P; Colclough, K; et al. |
8 June 2015 | Characteristics of maturity onset diabetes of the young in a large diabetes center
| Chambers, Christina; Fouts, A; Dong, F; 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. |
1 January 2014 | Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia
| Stride, A; Shields, B; Gill-Carey, O; et al. |
8 May 2024 | Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis
| Shields, B; Carlsson, A; Patel, K; et al. |
2 February 2022 | Evaluation of Evidence for Pathogenicity Demonstrates that BLK, KLF11 and PAX4 Should not be Included in Diagnostic Testing for MODY
| Laver, TW; Wakeling, MN; Knox, O; et al. |
12 October 2017 | Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
| Patel, KA; Kettunen, J; Laakso, M; et al. |
1 September 2013 | Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
| Ellard, Sian; Lango Allen, H; De Franco, E; et al. |
26 January 2021 | Loss of MANF causes childhood onset syndromic diabetes due to increased endoplasmic reticulum stress
| Montaser, H; Patel, KA; Balboa, D; et al. |
9 January 2020 | Misannotation of multiple-nucleotide variants risks misdiagnosis
| Wakeling, MN; Laver, TW; Colclough, K; et al. |
21 November 2023 | Penetrance and expressivity of mitochondrial variants in a large clinically unselected population
| Cannon, SJ; Hall, T; Hawkes, G; 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. |
17 July 2018 | PLIN1 haploinsufficiency is not associated with lipodystrophy
| Laver, TW; Patel, KA; Colclough, K; 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. |
15 January 2014 | Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia
| Steele, AM; Shields, BM; Wensley, KJ; et al. |
19 July 2016 | South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people
| Misra, S; Shields, B; Colclough, K; et al. |
16 November 2021 | Syndromic Monogenic Diabetes Genes Should be Tested in Patients With a Clinical Suspicion of MODY
| Colclough, K; Ellard, S; Hattersley, A; et al. |
23 October 2021 | Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
| Patel, KA; Ozbek, MN; Yildiz, M; 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. |