Stephen O'Rahilly - Publications#

Google Scholar h index 189, Citations 144593. Web of Science h index 136, Citations 69,771

5 selected papers since 2016

Lam BYH, Williamson A, Finer S, Day FR, Tadross JA, Gonçalves Soares A, Wade K, Sweeney P, Bedenbaugh MN, Porter DT, Melvin A, Ellacott KLJ, Lippert RN, Buller S, Rosmaninho-Salgado J, Dowsett GKC, Ridley KE, Xy Z, Cimino I, Rimmington D, Rainbow K, Duckett K, Holmqvist S, Khan A, Dai , Bochukova EG, Genes & Health Research Team, Trembath RC, Martin HC, Coll AP, Rowditch DH, Wareham NJ, van Heel DA, Timpson N, Simerly RB, Ong KK, Cone RD, Langenberg C, Perry JRB, Yeo GS, O’Rahilly S. MC3R links nutritional state to childhood growth and the timing of puberty. Nature. 2021 Nov 3. doi: 10.1038/s41586-021-04088-9. Epub ahead of print. PMID: 34732894.

Cimino I, Kim H, Tung YCL, Pedersen K, Rimmington D, Tadross JA, Kohnke SN, Neves-Costa A, Barros A, Joaquim S, Bennett D, Melvin A, Lockhart SM, Rostron AJ, Scott J, Liu H, Burling K, Barker P, Clatworthy MR, Lee EC, Simpson AJ, Yeo GSH, Moita LF, Bence KK, Jørgensen SB, Coll AP, Breen DM, O’Rahilly S. Activation of the hypothalamic-pituitary-adrenal axis by exogenous and endogenous GD15. Proc Natl Acad Sci U S A. 2021 Jul 6;118(27):e2106868118. doi: 10.1073/pnas.2106868118. PMID: 34187898; PMCID: PMC8271778.

Wade KH, Lam BYH, Melvin A, Pan W, Corbin LJ, Hughes DA, Rainbow K, Chen JH, Duckett K, Liu X, Mokrosiński J, Mörseburg A, Neaves S, Willaimson A, Zhang C, Farooqi IS, Yeo GSH, Timpson NJ, O’Rahilly S. Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort. Nat Med. 2021 May 27. doi:10.1038/s41591-021-01349-y. Epub ahead of print. PMID: 34045736.
Coll AP*, Chen M, Taskar P, Rimmington D, Patel S, Tadross JA, Cimino I, Yang M, Welsh P, Virtue S, Goldspink DA, Miedzybrodzka EL, Konopka AR, Esponda RR, Huang JT, Tung YCL, Rodriguez-Cuenca S, Tomaz RA, Harding HP, Melvin A, Yeo GSH, Preiss D, Vidal-Puig A, Vallier L, Nair KS, Wareham NJ, Ron D, Gribble FM, Reimann F, Sattar N, Savage DB, Allan BB, O’Rahilly S*. GDF15 mediates the effects of metformin on body weight and energy balance. Nature 2020;578:E24. doi:10.1038/s41586-020-2031-4. PMID:32051582 (*co-corresponding authors).

Lotta LA, Gulati P, Day FR, Payne F, Ongen H, van de Bunt M, Gaulton KJ, Eicher JD, Sharp SJ, Luan J, De Lucia Rolfe E, Stewart ID, Wheeler E, Willems SM, Adams C, Yaghootkar H; EPIC-InterAct Consortium.; Cambridge FPLD1 Consortium, Forouhi NG, Khaw KT, Johnson AD, Semple RK, Frayling T, Perry JR, Dermitzakis E, McCarthy MI, Barroso I, Wareham NJ, Savage DB*, Langenberg C, O’Rahilly S* Scott RA*. Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. Nat Genet. 2016 14. doi: 10.1038/ng.3714. PMID: 27841877. PMCID: PMC5774584.

5 Selected Older "Landmark" Papers

Barroso I, Gurnell M, Crowley VEF, Agostini M, Schwabe JW, Soos MA, Maslen GLI, Williams TD, Lewis H, Schafer AJ, 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. doi:10.1038/47254. http://www.ncbi.nlm.nih.gov/pubmed/10622252.

Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T and O'Rahilly S. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med. 2003;348(12):1085-95. PMID: 12646665.

Farooqi IS, 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. N Engl J Med 1999; 341:879-884. doi:10.1056/NEJM199909163411204. http://www.ncbi.nlm.nih.gov/pubmed/10486419.

Jackson RS, Creemers JWM, Ohagi S, Raffin-Sanson M-L, Sanders L, Montague CT, Hutton JC, O’Rahilly S. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 1997; 16:303-306. doi:10.1038/ng0797-303. http://www.ncbi.nlm.nih.gov/pubmed/9207799.

Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O’Rahilly S. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997; 387:903-908. http://www.ncbi.nlm.nih.gov/pubmed/9202122.