| Genetic regulation of pituitary gland development in human and mouse D Kelberman, K Rizzoti, R Lovell-Badge, ICAF Robinson, MT Dattani Endocrine reviews 30 (7), 790-829, 2009 | 452 | 2009 |
| Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans D Kelberman, K Rizzoti, A Avilion, M Bitner-Glindzicz, S Cianfarani, ... The Journal of clinical investigation 116 (9), 2442-2455, 2006 | 410 | 2006 |
| Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal … L Lin, P Philibert, B Ferraz-de-Souza, D Kelberman, T Homfray, ... The Journal of Clinical Endocrinology & Metabolism 92 (3), 991-999, 2007 | 230 | 2007 |
| SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development D Kelberman, SCP De Castro, S Huang, JA Crolla, R Palmer, JW Gregory, ... The Journal of Clinical Endocrinology & Metabolism 93 (5), 1865-1873, 2008 | 201 | 2008 |
| Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome D Kelberman, J Tyson, D Chandler, A McInerney, J Slee, D Albert, ... Human genetics 109, 638-645, 2001 | 180 | 2001 |
| HESX1 Mutations Are an Uncommon Cause of Septooptic Dysplasia and Hypopituitarism DEG McNay, JP Turton, D Kelberman, KS Woods, R Brauner, ... The Journal of Clinical Endocrinology & Metabolism 92 (2), 691-697, 2007 | 176 | 2007 |
| Septo-optic dysplasia–novel insights into the aetiology D Kelberman, MT Dattani Hormone research 69 (5), 257-265, 2008 | 127 | 2008 |
| Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency KS Alatzoglou, JP Turton, D Kelberman, PE Clayton, A Mehta, ... The Journal of Clinical Endocrinology & Metabolism 94 (9), 3191-3199, 2009 | 126 | 2009 |
| Hypothalamic and pituitary development: novel insights into the aetiology D Kelberman, MT Dattani European journal of endocrinology 157 (Supplement_1), S3-S14, 2007 | 121 | 2007 |
| Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss A Rajab, D Kelberman, SCP de Castro, H Biebermann, H Shaikh, ... Human Molecular Genetics 17 (14), 2150-2159, 2008 | 113 | 2008 |
| Genetics of septo-optic dysplasia D Kelberman, MT Dattani Pituitary 10, 393-407, 2007 | 107 | 2007 |
| Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain CL Andoniadou, M Signore, E Sajedi, C Gaston-Massuet, D Kelberman, ... Oxford University Press for The Company of Biologists Limited 134 (8), 1499-1508, 2007 | 96 | 2007 |
| ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies EA Webb, A AlMutair, D Kelberman, C Bacchelli, E Chanudet, F Lescai, ... Brain 136 (10), 3096-3105, 2013 | 83 | 2013 |
| Hypopituitarism oddities: congenital causes D Kelberman, MT Dattani Hormone research 68 (Suppl. 5), 138-144, 2007 | 81 | 2007 |
| The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism D Kelberman, MT Dattani Annals of medicine 38 (8), 560-577, 2006 | 80 | 2006 |
| ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous L Prasov, T Masud, S Khaliq, SQ Mehdi, A Abid, ER Oliver, ED Silva, ... Human molecular genetics 21 (16), 3681-3694, 2012 | 77 | 2012 |
| CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor … CJM Piper, MGL Wilkinson, CT Deakin, GW Otto, S Dowle, CL Duurland, ... Frontiers in immunology 9, 1372, 2018 | 75 | 2018 |
| X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development TR Webb, M Matarin, JC Gardner, D Kelberman, H Hassan, W Ang, ... The American Journal of Human Genetics 90 (2), 247-259, 2012 | 71 | 2012 |
| Effect of Interleukin-6 promoter polymorphisms in survivors of myocardial infarction and matched controls in the North and South of Europe D Kelberman, E Hawe, LA Luong, V Mohamed-Ali, P Lundman, P Tornvall, ... Thrombosis and haemostasis 92 (11), 1122-1128, 2004 | 67 | 2004 |
| Novel IL-6 haplotypes and disease association MS Fife, EM Ogilvie, D Kelberman, J Samuel, A Gutierrez, SE Humphries, ... Genes & Immunity 6 (4), 367-370, 2005 | 66 | 2005 |
