S. O'Rahilly

Naturally occurring amino acid substitutions at Arg1174 in the human insulin receptor result in differential effects on receptor biosynthesis and hybrid formation, leading to discordant clinical phenotypes.

H. Rau, Mirjana Kocova, Jonathan P. Whitehead, 2000, Diabetes.

Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism

S. O’Rahilly, A. Krook, L. Brueton, 1993, The Lancet.

Truncated human leptin (delta133) associated with extreme obesity undergoes proteasomal degradation after defective intracellular transport.

H. Rau, S. O'Rahilly, B. J. Reaves, 1999, Endocrinology.

ob gene mutations and human obesity

S. O’Rahilly, S. Farooqi, H. Rau, 1998, Proceedings of the Nutrition Society.

Hypoglycemia and resistance to ketoacidosis in a subject without functional insulin receptors.

D. Dunger, M. Soos, A. Ogilvy-Stuart, 2001, Journal of Clinical Endocrinology and Metabolism.