| Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2 LA Metherell, JP Chapple, S Cooray, A David, C Becker, F Rüschendorf, ... Nature genetics 37 (2), 166-170, 2005 | 481 | 2005 |
| MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans CR Hughes, L Guasti, E Meimaridou, CH Chuang, JC Schimenti, PJ King, ... The Journal of clinical investigation 122 (3), 814-820, 2012 | 278 | 2012 |
| MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family LF Chan, TR Webb, TT Chung, E Meimaridou, SN Cooray, L Guasti, ... Proceedings of the National Academy of Sciences 106 (15), 6146-6151, 2009 | 259 | 2009 |
| Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency E Meimaridou, J Kowalczyk, L Guasti, CR Hughes, F Wagner, P Frommolt, ... Nature genetics 44 (7), 740-742, 2012 | 248 | 2012 |
| Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity A David, V Hwa, LA Metherell, I Netchine, C Camacho-Hübner, AJL Clark, ... Endocrine reviews 32 (4), 472-497, 2011 | 231 | 2011 |
| Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome R Prasad, I Hadjidemetriou, A Maharaj, E Meimaridou, F Buonocore, ... The Journal of clinical investigation 127 (3), 942-953, 2017 | 179 | 2017 |
| Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency LA Metherell, D Naville, G Halaby, M Begeot, A Huebner, G Nurnberg, ... The Journal of Clinical Endocrinology & Metabolism 94 (10), 3865-3871, 2009 | 161 | 2009 |
| Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity LA Metherell, SA Akker, PB Munroe, SJ Rose, M Caulfield, MO Savage, ... The American Journal of Human Genetics 69 (3), 641-646, 2001 | 130 | 2001 |
| Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD) R Prasad, LF Chan, CR Hughes, JP Kaski, JC Kowalczyk, MO Savage, ... The Journal of Clinical Endocrinology & Metabolism 99 (8), E1556-E1563, 2014 | 124 | 2014 |
| IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty SR Howard, L Guasti, G Ruiz‐Babot, A Mancini, A David, HL Storr, ... EMBO molecular medicine 8 (6), 626-642, 2016 | 117 | 2016 |
| Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders MO Savage, KM Attie, A David, LA Metherell, AJL Clark, ... Nature Clinical Practice Endocrinology & Metabolism 2 (7), 395-407, 2006 | 111 | 2006 |
| Tall stature in familial glucocorticoid deficiency LLK Elias, A Huebner, LA Metherell, A Canas, GL Warne, MLM Bitti, ... Clinical endocrinology 53 (4), 423-430, 2000 | 105 | 2000 |
| Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation J Klammt, D Neumann, EF Gevers, SF Andrew, ID Schwartz, D Rockstroh, ... Nature communications 9 (1), 2105, 2018 | 98 | 2018 |
| Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2 TTLL Chung, LF Chan, LA Metherell, AJL Clark Clinical endocrinology 72 (5), 589-594, 2010 | 97 | 2010 |
| Inherited ACTH insensitivity illuminates the mechanisms of ACTH action AJL Clark, LA Metherell, ME Cheetham, A Huebner Trends in Endocrinology & Metabolism 16 (10), 451-457, 2005 | 89 | 2005 |
| Predictive Fluorescent Amplified-Fragment Length Polymorphism Analysis of Escherichia coli: High-Resolution Typing Method with Phylogenetic Significance C Arnold, L Metherell, G Willshaw, A Maggs, J Stanley Journal of Clinical Microbiology 37 (5), 1274-1279, 1999 | 87 | 1999 |
| Severe loss‐of‐function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt‐losing adrenal hypoplasia L Lin, PC Hindmarsh, LA Metherell, M Alzyoud, M Al‐Ali, CE Brain, ... Clinical endocrinology 66 (2), 205-210, 2007 | 85 | 2007 |
| Adrenocortical development, maintenance, and disease R Yates, H Katugampola, D Cavlan, K Cogger, E Meimaridou, C Hughes, ... Current topics in developmental biology 106, 239-312, 2013 | 82 | 2013 |
| Familial glucocorticoid deficiency: new genes and mechanisms E Meimaridou, CR Hughes, J Kowalczyk, L Guasti, JP Chapple, PJ King, ... Molecular and cellular endocrinology 371 (1-2), 195-200, 2013 | 81 | 2013 |
| Oxidative stress and adrenocortical insufficiency R Prasad, JC Kowalczyk, E Meimaridou, HL Storr, LA Metherell The Journal of endocrinology 221 (3), R63, 2014 | 79 | 2014 |
Paul ChappleQueen Mary University of LondonVerified email at qmul.ac.uk
