| Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease SE Flanagan, E Haapaniemi, MA Russell, R Caswell, HL Allen, ... Nature genetics 46 (8), 812-814, 2014 | 548 | 2014 |
| The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study E De Franco, SE Flanagan, JAL Houghton, HL Allen, DJG Mackay, ... The Lancet 386 (9997), 957-963, 2015 | 397 | 2015 |
| Improved genetic testing for monogenic diabetes using targeted next-generation sequencing S Ellard, H Lango Allen, E De Franco, SE Flanagan, G Hysenaj, ... Diabetologia 56, 1958-1963, 2013 | 352 | 2013 |
| GATA6 haploinsufficiency causes pancreatic agenesis in humans HL Allen, SE Flanagan, C Shaw-Smith, E De Franco, I Akerman, ... Nature genetics 44 (1), 20-22, 2012 | 329 | 2012 |
| Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis MN Weedon, I Cebola, AM Patch, SE Flanagan, E De Franco, R Caswell, ... Nature genetics 46 (1), 61-64, 2014 | 325 | 2014 |
| Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study P Bowman, Å Sulen, F Barbetti, J Beltrand, P Svalastoga, E Codner, ... The lancet Diabetes & endocrinology 6 (8), 637-646, 2018 | 184 | 2018 |
| Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man SE Flanagan, E De Franco, HL Allen, M Zerah, MM Abdul-Rasoul, ... Cell metabolism 19 (1), 146-154, 2014 | 180 | 2014 |
| Type 1 diabetes genetic risk score: a novel tool to discriminate monogenic and type 1 diabetes KA Patel, RA Oram, SE Flanagan, E De Franco, K Colclough, M Shepherd, ... Diabetes 65 (7), 2094-2099, 2016 | 166 | 2016 |
| GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency E De Franco, C Shaw-Smith, SE Flanagan, MH Shepherd, ... Diabetes 62 (3), 993-997, 2013 | 155 | 2013 |
| GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes C Shaw-Smith, E De Franco, H Lango Allen, M Batlle, SE Flanagan, ... Diabetes 63 (8), 2888-2894, 2014 | 147 | 2014 |
| Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes E De Franco, C Saint‐Martin, K Brusgaard, AE Knight Johnson, ... Human mutation 41 (5), 884-905, 2020 | 137 | 2020 |
| Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine DK Tobias, J Merino, A Ahmad, C Aiken, JL Benham, D Bodhini, AL Clark, ... Nature medicine 29 (10), 2438-2457, 2023 | 120 | 2023 |
| 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 | 102 | 2017 |
| Pathological β-cell endoplasmic reticulum stress in type 2 diabetes: current evidence N Shrestha, E De Franco, P Arvan, M Cnop Frontiers in endocrinology 12, 650158, 2021 | 98 | 2021 |
| 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 | 79 | 2020 |
| Expanding the Clinical Spectrum Associated With GLIS3 Mutations P Dimitri, AM Habeb, F Garbuz, A Millward, S Wallis, K Moussa, T Akcay, ... The Journal of Clinical Endocrinology & Metabolism 100 (10), E1362-E1369, 2015 | 78 | 2015 |
| 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 | 77 | 2017 |
| Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability A Raimondo, AJ Chakera, SK Thomsen, K Colclough, A Barrett, ... Human molecular genetics 23 (24), 6432-6440, 2014 | 61 | 2014 |
| A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development E De Franco, RA Watson, WJ Weninger, CC Wong, SE Flanagan, ... The American Journal of Human Genetics 104 (5), 985-989, 2019 | 59 | 2019 |
| Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency E De Franco, C Shaw‐Smith, SE Flanagan, EL Edghill, J Wolf, V Otte, ... Diabetic Medicine 30 (5), e197-e200, 2013 | 57 | 2013 |
