| Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance KA Patel, J Kettunen, M Laakso, A Stančáková, TW Laver, K Colclough, ... Nature communications 8 (1), 888, 2017 | 123 | 2017 |
| Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2 OR Cabezas, SE Flanagan, H Stanescu, E García-Martínez, R Caswell, ... Journal of the American Society of Nephrology 28 (8), 2529-2539, 2017 | 118 | 2017 |
| MAFA missense mutation causes familial insulinomatosis and diabetes mellitus D Iacovazzo, SE Flanagan, E Walker, R Quezado, FA de Sousa Barros, ... Proceedings of the National Academy of Sciences 115 (5), 1027-1032, 2018 | 100 | 2018 |
| A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia SE Flanagan, F Vairo, MB Johnson, R Caswell, TW Laver, H Lango Allen, ... Pediatric diabetes 18 (4), 320-323, 2017 | 89 | 2017 |
| Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and … E De Franco, SE Flanagan, T Yagi, D Abreu, J Mahadevan, MB Johnson, ... Diabetes 66 (7), 2044-2053, 2017 | 85 | 2017 |
| Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes MB Johnson, E De Franco, H Lango Allen, A Al Senani, N Elbarbary, ... Diabetes 66 (8), 2316-2322, 2017 | 71 | 2017 |
| YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress E De Franco, M Lytrivi, H Ibrahim, H Montaser, MN Wakeling, F Fantuzzi, ... The Journal of clinical investigation 130 (12), 6338-6353, 2020 | 69 | 2020 |
| Pitfalls of haplotype phasing from amplicon-based long-read sequencing TW Laver, RC Caswell, KA Moore, J Poschmann, MB Johnson, ... Scientific reports 6 (1), 21746, 2016 | 66 | 2016 |
| An exome sequencing strategy to diagnose lethal autosomal recessive disorders S Ellard, E Kivuva, P Turnpenny, K Stals, M Johnson, W Xie, R Caswell, ... European Journal of Human Genetics 23 (3), 401-404, 2015 | 62 | 2015 |
| Monogenic autoimmune diseases of the endocrine system MB Johnson, AT Hattersley, SE Flanagan The lancet Diabetes & endocrinology 4 (10), 862-872, 2016 | 46 | 2016 |
| A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes MB Johnson, KA Patel, E De Franco, JAL Houghton, TJ McDonald, ... Diabetologia 61, 862-869, 2018 | 38 | 2018 |
| De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction E De Franco, R Caswell, MB Johnson, MN Wakeling, A Zung, VC Dũng, ... Diabetes 69 (3), 477-483, 2020 | 37 | 2020 |
| Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort AM Habeb, A Deeb, M Johnson, M Abdullah, M Abdulrasoul, H Al-Awneh, ... Hormone Research in Paediatrics 83 (3), 190-197, 2015 | 37 | 2015 |
| SavvyCNV: Genome-wide CNV calling from off-target reads TW Laver, E De Franco, MB Johnson, KA Patel, S Ellard, MN Weedon, ... PLOS Computational Biology 18 (3), e1009940, 2022 | 34 | 2022 |
| Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated MB Johnson, E De Franco, SAW Greeley, LR Letourneau, KM Gillespie, ... Diabetes 68 (7), 1528-1535, 2019 | 34 | 2019 |
| Atypical forms of congenital hyperinsulinism in infancy are associated with mosaic patterns of immature islet cells B Han, Z Mohamed, MS Estebanez, RJ Craigie, M Newbould, ... The Journal of Clinical Endocrinology & Metabolism 102 (9), 3261-3267, 2017 | 30 | 2017 |
| Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells MB Johnson, KA Patel, E De Franco, W Hagopian, M Killian, TJ McDonald, ... Diabetologia 63, 2605-2615, 2020 | 29 | 2020 |
| Genetic mechanisms highlight shared pathways for the pathogenesis of polygenic type 1 diabetes and monogenic autoimmune diabetes MB Johnson, K Cerosaletti, SE Flanagan, JH Buckner Current diabetes reports 19, 1-9, 2019 | 28 | 2019 |
| Clinical phenotypes and immunological characteristics of 18 Egyptian LRBA deficiency patients S Meshaal, R El Hawary, R Adel, D Abd Elaziz, A Erfan, S Lotfy, M Hafez, ... Journal of Clinical Immunology 40, 820-832, 2020 | 24 | 2020 |
| A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue—applications for studies of mitochondrial genetics in brain disorders M Devall, J Burrage, R Caswell, M Johnson, C Troakes, S Al-Sarraj, ... Biotechniques 59 (4), 241-246, 2015 | 21 | 2015 |
