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Mary Gray
Mary Gray
University of Otago
Verified email at anu.edu.au
Title
Cited by
Cited by
Year
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
3462011
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
2612009
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
2562013
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
1882011
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
652012
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
252015
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
242013
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
162014
Efficacy of metolazone in patients with renal edema
HJ Dargie, ME Allison, AC Kennedy, MJ Gray
Clinical nephrology 2 (4), 157-160, 1974
161974
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
102024
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
52024
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
12022
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
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