Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss MA Simpson, MD Irving, E Asilmaz, MJ Gray, D Dafou, FV Elmslie, ... Nature genetics 43 (4), 303-305, 2011 | 346 | 2011 |
Mutations in PYCR1 cause cutis laxa with progeroid features B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ... Nature genetics 41 (9), 1016-1021, 2009 | 261 | 2009 |
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development S Cappello, MJ Gray, C Badouel, S Lange, M Einsiedler, M Srour, ... Nature genetics 45 (11), 1300-1308, 2013 | 256 | 2013 |
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid K Laue, HM Pogoda, PB Daniel, A van Haeringen, Y Alanay, S von Ameln, ... The American Journal of Human Genetics 89 (5), 595-606, 2011 | 188 | 2011 |
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome MJ Gray, C Kim, DR Bertola, PR Arantes, H Stewart, MA Simpson, ... European Journal of Human Genetics 20 (1), 122-124, 2012 | 65 | 2012 |
Mutations preventing regulated exon skipping in MET cause osteofibrous dysplasia MJ Gray, P Kannu, S Sharma, C Neyt, D Zhang, N Paria, PB Daniel, ... The American Journal of Human Genetics 97 (6), 837-847, 2015 | 25 | 2015 |
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype HR Tiffin, ZA Jenkins, MJ Gray, SR Cameron-Christie, J Eaton, S Aftimos, ... Neurogenetics 14, 113-121, 2013 | 24 | 2013 |
A new acro-osteolysis syndrome caused by duplications including PTHLH MJ Gray, M van Kogelenberg, R Beddow, T Morgan, P Wordsworth, ... Journal of human genetics 59 (9), 484-487, 2014 | 16 | 2014 |
Efficacy of metolazone in patients with renal edema HJ Dargie, ME Allison, AC Kennedy, MJ Gray Clinical nephrology 2 (4), 157-160, 1974 | 16 | 1974 |
Effects of empagliflozin on progression of chronic kidney disease: a prespecified secondary analysis from the EMPA-KIDNEY trial N Staplin, R Haynes, PK Judge, C Wanner, JB Green, J Emberson, ... The Lancet Diabetes & Endocrinology 12 (1), 39-50, 2024 | 10 | 2024 |
Impact of primary kidney disease on the effects of empagliflozin in patients with chronic kidney disease: secondary analyses of the EMPA-KIDNEY trial PK Judge, N Staplin, KJ Mayne, C Wanner, JB Green, SJ Hauske, ... The Lancet Diabetes & Endocrinology 12 (1), 51-60, 2024 | 5 | 2024 |
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ... Nature Genetics 54 (2), 213-213, 2022 | 1 | 2022 |
Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009) B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ... NATURE GENETICS 54 (2), 213-213, 2022 | | 2022 |
University Department of Medicine, Royal Infirmary, Glasgow, Scotland AC KENNEDY, JD BRIGGS, LN YOUNG, RG LUKE, M GRAY | | |