Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Large-scale analysis of the human and mouse transcriptomes

Andrew I. Su, M. Cooke, Keith A. Ching et al. · Proceedings of the National Academy of Sciences · 2002 · 1.5K citations

Life Sciences, Molecular Biology, Physiology +13

A genetic and physiological study of impaired glucose homeostasis control in C57BL/6J mice

Ayo A. Toye, Jonathan D. Lippiat, Peter Proks et al. · Diabetologia · 2005 · 451 citations · Full text

Life Sciences, Genetics, Physiology +16

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Louise Metherell, J. Paul Chapple, Sadani N. Cooray et al. · Nature Genetics · 2005 · 446 citations

Life Sciences, Endocrinology, Genetics +13

A comprehensive functional analysis of tissue specificity of human gene expression

Zoltán Dezső, Yuri Nikolsky, Evgeny Sviridov et al. · BMC Biology · 2008 · 241 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

Louise Metherell, Danielle Naville, G Halaby et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 159 citations · Full text

Medicine, Endocrinology, Genetics +17