The genetic basis of congenital hyperinsulinism C James, RR Kapoor, D Ismail, K Hussain Journal of medical genetics 46 (5), 289-299, 2009 | 227 | 2009 |
Hyperinsulinaemic hypoglycaemia RR Kapoor, SE Flanagan, C James, J Shield, S Ellard, K Hussain Archives of Disease in Childhood 94 (6), 450-457, 2009 | 184 | 2009 |
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management S Senniappan, B Shanti, C James, K Hussain Journal of inherited metabolic disease 35, 589-601, 2012 | 175 | 2012 |
Advances in the diagnosis and management of hyperinsulinemic hypoglycemia RR Kapoor, C James, K Hussain Nature Clinical Practice Endocrinology & Metabolism 5 (2), 101-112, 2009 | 142 | 2009 |
Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years J Kammermeier, R Dziubak, M Pescarin, S Drury, H Godwin, K Reeve, ... Journal of Crohn's and Colitis 11 (1), 60-69, 2017 | 137 | 2017 |
Retinoic acid down‐regulates Tbx1 expression in vivo and in vitro C Roberts, SM Ivins, CT James, PJ Scambler Developmental dynamics: an official publication of the American Association …, 2005 | 123 | 2005 |
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 | 115 | 2009 |
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis J Kammermeier, S Drury, CT James, R Dziubak, L Ocaka, M Elawad, ... Journal of medical genetics 51 (11), 748-755, 2014 | 112 | 2014 |
Role of Islet1 in the patterning of murine dentition TA Mitsiadis, I Angeli, C James, U Lendahl, PT Sharpe Oxford University Press for The Company of Biologists Limited 130 (18), 4451 …, 2003 | 111 | 2003 |
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome AC Thomas, H Williams, N Setó-Salvia, C Bacchelli, D Jenkins, ... The American Journal of Human Genetics 95 (5), 611-621, 2014 | 105 | 2014 |
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm A Onoufriadis, A Shoemark, MM Munye, CT James, M Schmidts, M Patel, ... Journal of medical genetics 51 (1), 61-67, 2014 | 104 | 2014 |
Mitochondrial potentiation ameliorates age-related heterogeneity in hematopoietic stem cell function E Mansell, V Sigurdsson, E Deltcheva, J Brown, C James, K Miharada, ... Cell Stem Cell 28 (2), 241-256. e6, 2021 | 103 | 2021 |
Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1 S Ivins, KL van Beuren, C Roberts, C James, E Lindsay, A Baldini, ... Developmental biology 285 (2), 554-569, 2005 | 96 | 2005 |
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity RR Kapoor, C James, SE Flanagan, S Ellard, S Eaton, K Hussain The Journal of Clinical Endocrinology & Metabolism 94 (7), 2221-2225, 2009 | 92 | 2009 |
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations RR Kapoor, SE Flanagan, CT James, J McKiernan, AM Thomas, ... Diabetologia 54, 2575-2583, 2011 | 78 | 2011 |
Phenotypic plasticity and genetic control in colorectal cancer evolution J Househam, T Heide, GD Cresswell, I Spiteri, C Kimberley, L Zapata, ... Nature 611 (7937), 744-753, 2022 | 76 | 2022 |
A human IPS model implicates embryonic B-myeloid fate restriction as developmental susceptibility to B acute lymphoblastic leukemia-associated ETV6-RUNX1 C Böiers, SE Richardson, E Laycock, A Zriwil, VA Turati, J Brown, JP Wray, ... Developmental cell 44 (3), 362-377. e7, 2018 | 76 | 2018 |
Pancreatic β-cell KATP channels: Hypoglycaemia and hyperglycaemia K Bennett, C James, K Hussain Reviews in endocrine and metabolic disorders 11, 157-163, 2010 | 76 | 2010 |
Hyperinsulinism in developmental syndromes RR Kapoor, C James, K Hussain Endocrine Involvement in Developmental Syndromes 14, 95-113, 2009 | 69 | 2009 |
Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome MM Oud, P Tuijnenburg, M Hempel, N van Vlies, Z Ren, S Ferdinandusse, ... The American Journal of Human Genetics 100 (2), 281-296, 2017 | 64 | 2017 |