1. O'Rahilly S, Barroso I, Wareham NJ
   Abstract Genetic factors in type 2 diabetes: the end of the beginning?
   Science 2005 307:370-3 Abstract | pdf

2. Rochford JJ, Semple RK, Laudes M, Boyle KB, Christodoulides C, Mulligan C, Lelliott CJ, Schinner S, Hadaschik D, Mahadevan M, Sethi JK, Vidal-Puig A, O'Rahilly S
   Free in PMC ETO/MTG8 is an inhibitor of C/EBPbeta activity and a regulator of early adipogenesis.
   Mol Cell Biol. 2004 24:9863-72 Abstract | pdf

3. A Family with Severe Insulin Resistance and Diabetes Due to a Mutation in AKT2
   Stella George, Justin J. Rochford, Christian Wolfrum, Sarah L. Gray, Sven Schinner, Jenny C. Wilson, Maria A. Soos, Peter R. Murgatroyd, Rachel M. Williams, Carlo L. Acerini, David B. Dunger, David Barford, A. Margot Umpleby, Nicholas J. Wareham, Huw Alban Davies, Alan J. Schafer, Markus Stoffel, Stephen O'Rahilly, Inês Barroso
   Science 2004 304:1325-1328 Abstract | pdf

4. Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY 3-36
   Challis BG, Coll AP, Yeo GS, Pinnock SB, Dickson SL, Thresher RR, Dixon J, Zahn D, Rochford JJ, White A, Oliver RL, Millington G, Aparicio SA, Colledge WH, Russ AP, Carlton MB, O'Rahilly S.
   Proc Natl Acad Sci U S A 2004 101:4695-700 Abstract | pdf

5. Farooqi IS, Keogh JM, Yeo G, Lank E, Genetics of Obesity Study Group, O'Rahilly S.
   Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
   New Eng J Med 2003 348:1085-95 Abstract | pdf

6. Farooqi IS, Matarese G, Lord GM, Keogh JM, Lawrence E, Agwu C, Sanna V,. Jebb SA, Perna F, Fontana S, Lechler RI, DePaoli AM, O'Rahilly S.
   Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.
   J Clin Invest 2002 110:1093-1103 Abstract | pdf

7. Challis BG, Pritchard LE, Creemers JWM, Delplanque J, Keogh JM, Luan J, Wareham NJ, Yeo G, Bhattacharyya S, Froguel P, White A, Farooqi IS & O'Rahilly S.
   A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin POMC increases susceptibility to early-onset obesity through a novel molecular mechanism.
   Human Molecular Genetics 2002 11:1997-2004 Abstract | pdf

8. Savage DB, Agostini M, Barroso I, Gurnell M, Luan JA, Meirhaeghe A, Harding A-H, Ihrke G, Soos MA, Ratanayagam O, George S, Berger D, Thomas EL, Bell JD, McCarthy M, Hattersley AT, Hitman GA, Levy J, Walkers M, Meeran K, Ross R, Vidal-Puig A, Wareham NJ, O'Rahilly S*, Chatterjee VKK, Schafer AJ.
   Digenic Inheritance of Severe Insulin Resistance in a Human Pedigree.
   Nature Genetics 2002 31:379-384 *communicating author Abstract | pdf

9. Farooqi IS, Keogh J, Kamath S, Jones S, Gibson W, Trussell R, Jebb S, Lip G, O'Rahilly S
   Partial leptin deficiency and human adiposity.
   Nature 2001 414:34-35 Abstract | pdf

10. Nugent C, Prins JB, Whitehead JP, Wentworth JM, Chatterjee VKK, O'Rahilly S
    Potentiation of glucose uptake in 3T3-L1 adipocytes by PPAR gamma agonists is maintained in cells expressing a PPAR gamma dominant-negative mutant: evidence for selectivity in the downstream responses to PPAR gamma activation.
    Molecular Endocrinology 2001 15:1729-1738 Abstract | pdf

11. Farooqi IS, Yeo GSH, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S.
    Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
    J Clin Invest 2000 106:271-279 Abstract | pdf

12. Farooqi S, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S.
    Effects of recombinant leptin therapy in a child with congenital leptin deficiency.
    New Eng J Med 1999 341:879-884 Abstract | pdf

13. Barroso I, Gurnell M, Crowley VEF, Agostini M, Schwabe JW, Soos MA, Maslen GLI, Williams TDM, Schafer AJ, Lewis H, Chatterjee VKK, O'Rahilly S.
    Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.
    Nature 1999 402:880-883 Abstract | pdf

14. Dib K, Whitehead J, Humphreys PJ, Soos M, Baynes K, Kumar S, Harvey T, O'Rahilly S
    Impaired activation of PI3-kinase by insulin in fibroblasts from patients with severe insulin resistance and pseudo-acromegaly: a disorder characterised by selective post-receptor insulin resistance.
    J Clin Invest 1998 101:1111-1120 Abstract | pdf

15. Yeo G, Farooqi IS, Aminian S, Halsall D, Stanhope R, O'Rahilly S.
    A frameshift mutation in MC4R associated with dominantly inherited human obesity.
    Nature Genetics 1998 20:111-112 Abstract | pdf

16. Montague CT, Prins J, Sanders L, Digby J, O'Rahilly S.
    Depot- and sex-specific differences in human leptin mRNA expression: Implications for the control of regional fat distribution.
    Diabetes 1997 46:342-347 Abstract

17. Jackson RS, Creemers JWM, Ohagi S, Raffin-Sanson M-L, Sanders L, Montague C, Hutton JC, O'Rahilly S
    Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 PC1 gene.
    Nature Genetics 1997 16:303-306 Abstract

18. Adams M, Montague CT, Prins JB, Holder JC, Smith SA, Sanders L, Digby JE, Sewter CP, Lazar MA, Chatterjee VK, O'Rahilly S.
    Activators of peroxisome proliferator-activated receptor gamma have depot-specific effects on human preadipocyte differentiation.
    J Clin Invest 1997 100:3149-3153 Abstract | pdf

19. Krook A, Whitehead JP, Dobson SP, Griffiths MR, Ouwens M, Maassen JA, Tavare J, O'Rahilly S
    Two naturally occurring mutations in the insulin receptor tyrosine kinase domain provide evidence that PI3-kinase activation alone is insufficient for the mediation of the metabolic effects of insulin.
    J Biol Chem. 1997 272:30208-30213 Abstract | pdf

20. Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohamed SN, Hurst JA, Cheatham KH, Earley AR, Barnett AH, Prins JB, O'Rahilly S.
    Congenital leptin deficiency is associated with severe early-onset obesity in humans.
    Nature 1997 387903-908 Abstract

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