| Burosumab therapy in children with X-linked hypophosphatemia TO Carpenter, MP Whyte, EA Imel, AM Boot, W Högler, A Linglart, ... New England Journal of Medicine 378 (21), 1987-1998, 2018 | 413 | 2018 |
| Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans E Schoenmakers, M Agostini, C Mitchell, N Schoenmakers, L Papp, ... The Journal of clinical investigation 120 (12), 4220-4235, 2010 | 316 | 2010 |
| Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial EA Imel, FH Glorieux, MP Whyte, CF Munns, LM Ward, O Nilsson, ... The Lancet 393 (10189), 2416-2427, 2019 | 295 | 2019 |
| Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia T Raivio, M Avbelj, MJ McCabe, CJ Romero, AA Dwyer, J Tommiska, ... The Journal of Clinical Endocrinology & Metabolism 97 (4), E694-E699, 2012 | 170 | 2012 |
| Metabolic bone disease of prematurity: causes, recognition, prevention, treatment and long-term consequences A Chinoy, MZ Mughal, R Padidela Archives of Disease in Childhood-Fetal and Neonatal Edition 104 (5), F560-F566, 2019 | 123 | 2019 |
| Abnormal neurodevelopmental outcomes are common in children with transient congenital hyperinsulinism HB Avatapalle, I Banerjee, S Shah, M Pryce, J Nicholson, L Rigby, ... Frontiers in endocrinology 4, 60, 2013 | 119 | 2013 |
| SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway ST Cliffe, JM Kramer, K Hussain, JH Robben, EK de Jong, AP de Brouwer, ... Human molecular genetics 18 (12), 2257-2265, 2009 | 116 | 2009 |
| Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ AK Nicholas, EG Serra, H Cangul, S Alyaarubi, I Ullah, E Schoenmakers, ... The Journal of Clinical Endocrinology & Metabolism 101 (12), 4521-4531, 2016 | 97 | 2016 |
| mTOR inhibitors for the treatment of severe congenital hyperinsulinism: perspectives on limited therapeutic success M Szymanowski, MS Estebanez, R Padidela, B Han, K Mosinska, ... The Journal of Clinical Endocrinology & Metabolism 101 (12), 4719-4729, 2016 | 58 | 2016 |
| Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time M Salomon-Estebanez, SE Flanagan, S Ellard, L Rigby, L Bowden, ... Orphanet journal of rare diseases 11, 1-11, 2016 | 56 | 2016 |
| Sustained efficacy and safety of burosumab, a monoclonal antibody to FGF23, in children with X-linked hypophosphatemia A Linglart, EA Imel, MP Whyte, AA Portale, W Högler, AM Boot, ... The Journal of Clinical Endocrinology & Metabolism 107 (3), 813-824, 2022 | 53 | 2022 |
| Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism I Banerjee, B Avatapalle, R Padidela, A Stevens, KE Cosgrove, ... Clinical endocrinology 78 (6), 803-813, 2013 | 51 | 2013 |
| The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta W Högler, J Scott, N Bishop, P Arundel, P Nightingale, MZ Mughal, ... The Journal of Clinical Endocrinology & Metabolism 102 (8), 2734-2743, 2017 | 50 | 2017 |
| Enhanced islet cell nucleomegaly defines diffuse congenital hyperinsulinism in infancy but not other forms of the disease B Han, M Newbould, G Batra, E Cheesman, RJ Craigie, Z Mohamed, ... American journal of clinical pathology 145 (6), 757-768, 2016 | 45 | 2016 |
| Effect of burosumab compared with conventional therapy on younger vs older children with X-linked hypophosphatemia LM Ward, FH Glorieux, MP Whyte, CF Munns, AA Portale, W Högler, ... The Journal of Clinical Endocrinology & Metabolism 107 (8), e3241-e3253, 2022 | 43 | 2022 |
| Mineralocorticoid deficiency and treatment in congenital adrenal hyperplasia R Padidela, PC Hindmarsh International Journal of Pediatric Endocrinology 2010 (1), 1-4, 2010 | 43 | 2010 |
| Insulinoma in childhood: clinical, radiological, molecular and histological aspects of nine patients R Padidela, M Fiest, V Arya, VV Smith, M Ashworth, D Rampling, ... European journal of endocrinology 170 (5), 741-747, 2014 | 40 | 2014 |
| Elevated basal and post-feed glucagon-like peptide 1 (GLP-1) concentrations in the neonatal period R Padidela, M Patterson, N Sharief, M Ghatei, K Hussain European journal of endocrinology 160 (1), 53-58, 2009 | 40 | 2009 |
| Abnormal growth in Noonan syndrome: genetic and endocrine features and optimal treatment R Padidela, C Camacho-Hübner, KM Attie, MO Savage Hormone Research in Paediatrics 70 (3), 129-136, 2008 | 40 | 2008 |
| Growth, bone health & ambulatory status of boys with DMD treated with daily vs. intermittent oral glucocorticoid regimen NJ Crabtree, JE Adams, R Padidela, NJ Shaw, W Högler, H Roper, ... Bone 116, 181-186, 2018 | 39 | 2018 |
