| Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6. 2 and permanent neonatal diabetes AL Gloyn, ER Pearson, JF Antcliff, P Proks, GJ Bruining, AS Slingerland, ... New England Journal of Medicine 350 (18), 1838-1849, 2004 | 1465 | 2004 |
| Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. 2 mutations ER Pearson, I Flechtner, PR Njølstad, MT Malecki, SE Flanagan, B Larkin, ... New England Journal of Medicine 355 (5), 467-477, 2006 | 1189 | 2006 |
| Large, rare chromosomal deletions associated with severe early-onset obesity EG Bochukova, NI Huang, J Keogh, E Henning, C Purmann, K Blaszczyk, ... Nature 463 (7281), 666-670, 2010 | 666 | 2010 |
| Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene ER Pearson, SF Boj, AM Steele, T Barrett, K Stals, JP Shield, S Ellard, ... PLoS medicine 4 (4), e118, 2007 | 527 | 2007 |
| Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood SE Flanagan, AM Patch, DJG Mackay, EL Edghill, AL Gloyn, D Robinson, ... Diabetes 56 (7), 1930-1937, 2007 | 451 | 2007 |
| Use of accelerometers in a large field-based study of children: protocols, design issues, and effects on precision C Mattocks, A Ness, S Leary, K Tilling, SN Blair, J Shield, K Deere, ... Journal of Physical Activity and Health 5 (s1), S98-S111, 2008 | 444 | 2008 |
| Impaired fatty acid oxidation in propofol infusion syndrome A Wolf, P Weir, P Segar, J Stone, J Shield The Lancet 357 (9256), 606-607, 2001 | 442 | 2001 |
| Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. IK Temple, RJ Gardner, DJ Mackay, JC Barber, DO Robinson, JP Shield Diabetes 49 (8), 1359-1366, 2000 | 348 | 2000 |
| What reduction in BMI SDS is required in obese adolescents to improve body composition and cardiometabolic health? AL Ford, LP Hunt, A Cooper, JPH Shield Archives of disease in childhood 95 (4), 256-261, 2010 | 328 | 2010 |
| The diagnosis and management of monogenic diabetes in children and adolescents. A Hattersley, J Bruining, J Shield, P Njolstad, KC Donaghue Pediatric diabetes 10, 2009 | 316 | 2009 |
| Rising incidence of type 2 diabetes in children in the UK L Haines, KC Wan, R Lynn, TG Barrett, JPH Shield Diabetes care 30 (5), 1097-1101, 2007 | 315 | 2007 |
| A POMC variant implicates β-melanocyte-stimulating hormone in the control of human energy balance YS Lee, BG Challis, DA Thompson, GSH Yeo, JM Keogh, ME Madonna, ... Cell metabolism 3 (2), 135-140, 2006 | 293 | 2006 |
| Parameters for reliable results in genetic association studies in common disease I Dahlman, IA Eaves, R Kosoy, VA Morrison, J Heward, SCL Gough, ... Nature genetics 30 (2), 149-150, 2002 | 292 | 2002 |
| Type 2 diabetes in obese white children AJ Drake, A Smith, PR Betts, EC Crowne, JPH Shield Archives of disease in childhood 86 (3), 207-208, 2002 | 285 | 2002 |
| Transient neonatal diabetes, a disorder of imprinting IK Temple, JPH Shield Journal of medical genetics 39 (12), 872-875, 2002 | 279 | 2002 |
| Treatment of childhood obesity by retraining eating behaviour: randomised controlled trial AL Ford, C Bergh, P Södersten, MA Sabin, S Hollinghurst, LP Hunt, ... Bmj 340, 2010 | 268 | 2010 |
| An imprinted locus associated with transient neonatal diabetes mellitus RJ Gardner, DJG Mackay, AJ Mungall, C Polychronakos, R Siebert, ... Human molecular genetics 9 (4), 589-596, 2000 | 268 | 2000 |
| Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism RR Kapoor, SE Flanagan, VB Arya, JP Shield, S Ellard, K Hussain European journal of endocrinology 168 (4), 557-564, 2013 | 254 | 2013 |
| Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome IA Aligianis, CA Johnson, P Gissen, D Chen, D Hampshire, K Hoffmann, ... Nature genetics 37 (3), 221-224, 2005 | 253 | 2005 |
| Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects S Ellard, SE Flanagan, CA Girard, AM Patch, LW Harries, A Parrish, ... The American Journal of Human Genetics 81 (2), 375-382, 2007 | 247 | 2007 |
Sian EllardProfessor of Genomic Medicine, University of Exeter在 nhs.net 的电子邮件经过验证
