Concepedia
Statistics
Publications
10
Citations
1K
H-Index
Active since
1987
Affiliations
Queen Mary University of London(Current)
William Harvey Research Institute
University College London
Great Ormond Street Hospital
Royal London Hospital
Claire Hughes is an author at Queen Mary University of London specializing in medical genetics, genetics, and genetic disorders.
Publications per year
1987–2022
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
Eirini Meimaridou, Julia Kowalczyk, Leonardo Guasti et al. · Nature Genetics · 2012 · 264 citations
Life Sciences, Genetics, Molecular Genetics +10
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
Claire Hughes, Leonardo Guasti, Eirini Meimaridou et al. · Journal of Clinical Investigation · 2012 · 260 citations · Full text
Medicine, Endocrinology, Genetics +17
Coinduction of glucose-regulated proteins and doxorubicin resistance in Chinese hamster cells.
Jianwei Shen, Claire Hughes, Chien-Chyou W. Chao et al. · Proceedings of the National Academy of Sciences · 1987 · 192 citations · Full text
Medicine, Biochemistry, Cancer Biology +16
Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)
Rathi Prasad, Li F. Chan, Claire Hughes et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 141 citations · Full text
Life Sciences, Endocrinology, Genetics +17
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK
Federica Buonocore, Avinaash Maharaj, Younus Qamar et al. · Journal of the Endocrine Society · 2021 · 60 citations · Full text
Medicine, Endocrinology, Pediatrics +15
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