MRC Epidemiology Unit
Identification of rare loss of function genetic variation regulating body fat distribution.
Koprulu M, Zhao Y, Wheeler E, Dong L, Rocha N, Li C, Griffin JD, Patel S, Van de Streek M, Glastonbury CA, Stewart ID, Felix RD, Luan J, Bowker N, Wittemans LBL, Kerrison ND, Cai L, Lucarelli DME, Barroso I, McCarthy MI, Scott RA, Saudek V, Kerrin SS, Wareham NJ, Semple RK, Perry JRB, O'Rahilly S, Lotta LA, Langenberg C, Savage DB
The Journal of clinical endocrinology and metabolism. Sep 2021
(DOI : 10.1210/clinem/dgab877)
Rocha N, Harris J, Wareham NJ, Hussain K, O'Rahilly S, Semple RK
The Journal of clinical endocrinology and metabolism. Mar 2017
(DOI : 10.1210/jc.2017-00768)
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
Leiter SM, Parker VER, Welters A, Knox R, Rocha N, Clark G, Payne F, Lotta L, Harris J, Guerrero-Fernández J, González-Casado I, García-Miñaur S, Gordo G, Wareham N, Martínez-Glez V, Allison M, O'Rahilly S, Barroso I, Meissner T, Davies S, Hussain K, Temple K, Barreda-Bonis AC, Kummer S, Semple RK
European journal of endocrinology. Feb 2017
(DOI : 10.1530/EJE-17-0132)
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
Nature genetics. Apr 2016
(DOI : 10.1038/ng.3714)
Nead KT, Sharp SJ, Thompson DJ, Painter JN, Savage DB, Semple RK, Barker A, Australian National Endometrial Cancer Study Group (ANECS), Perry JR, Attia J, Dunning AM, Easton DF, Holliday E, Lotta LA, O'Mara T, McEvoy M, Pharoah PD, Scott RJ, Spurdle AB, Langenberg C, Wareham NJ, Scott RA
Journal of the National Cancer Institute. Jan 2015
(DOI : 10.1093/jnci/djv178)
Scott RA, Fall T, Pasko D, Barker A, Sharp SJ, Arriola L, Balkau B, Barricarte A, Barroso I, Boeing H, Clavel-Chapelon F, Crowe FL, Dekker JM, Fagherazzi G, Ferrannini E, Forouhi NG, Franks PW, Gavrila D, Giedraitis V, Grioni S, Groop LC, Kaaks R, Key TJ, Kühn T, Lotta LA, Nilsson PM, Overvad K, Palli D, Panico S, Quirós JR, Rolandsson O, Roswall N, Sacerdote C, Sala N, Sánchez MJ, Schulze MB, Siddiq A, Slimani N, Sluijs I, Spijkerman AM, Tjonneland A, Tumino R, van der A DL, Yaghootkar H, McCarthy MI, Semple RK, Riboli E, Walker M, Ingelsson E, Frayling TM, Savage DB, Langenberg C, Wareham NJ
Diabetes. Jun 2014
(DOI : 10.2337/db14-0319)
Yaghootkar H, Lamina C, Scott RA, Dastani Z, Hivert MF, Warren LL, Stančáková A, Buxbaum SG, Lyytikäinen LP, Henneman P, Wu Y, Cheung CY, Pankow JS, Jackson AU, Gustafsson S, Zhao JH, Ballantyne CM, Xie W, Bergman RN, Boehnke M, el Bouazzaoui F, Collins FS, Dunn SH, Dupuis J, Forouhi NG, Gillson C, Hattersley AT, Hong J, Kähönen M, Kuusisto J, Kedenko L, Kronenberg F, Doria A, Assimes TL, Ferrannini E, Hansen T, Hao K, Häring H, Knowles JW, Lindgren CM, Nolan JJ, Paananen J, Pedersen O, Quertermous T, Smith U, Lehtimäki T, Liu CT, Loos RJ, McCarthy MI, Morris AD, Vasan RS, Spector TD, Teslovich TM, Tuomilehto J, van Dijk KW, Viikari JS, Zhu N, Langenberg C, Ingelsson E, Semple RK, Sinaiko AR, Palmer CN, Walker M, Lam KS, Paulweber B, Mohlke KL, van Duijn C, Raitakari OT, Bidulescu A, Wareham NJ, Laakso M, Waterworth DM, Lawlor DA, Meigs JB, Richards JB, Frayling TM
Diabetes. Jul 2013
(DOI : 10.2337/db13-0128)
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Kilpeläinen TO, Zillikens MC, Stančáková A, Finucane FM, Ried JS, Langenberg C, Zhang W, Beckmann JS, Luan J, Vandenput L, Styrkarsdottir U, Zhou Y, Smith AV, Zhao JH, Amin N, Vedantam S, Shin SY, Haritunians T, Fu M, Feitosa MF, Kumari M, Halldorsson BV, Tikkanen E, Mangino M, Hayward C, Song C, Arnold AM, Aulchenko YS, Oostra BA, Campbell H, Cupples LA, Davis KE, Döring A, Eiriksdottir G, Estrada K, Fernández-Real JM, Garcia M, Gieger C, Glazer NL, Guiducci C, Hofman A, Humphries SE, Isomaa B, Jacobs LC, Jula A, Karasik D, Karlsson MK, Khaw KT, Kim LJ, Kivimaki M, Klopp N, Kühnel B, Kuusisto J, Liu Y, Ljunggren Ö, Lorentzon M, Luben RN, McKnight B, Mellström D, Mitchell BD, Mooser V, Moreno JM, Männistö S, O'Connell JR, Pascoe L, Peltonen L, Peral B, Perola M, Psaty BM, Salomaa V, Savage DB, Semple RK, Skaric-Juric T, Sigurdsson G, Song KS, Spector TD, Syvänen AC, Talmud PJ, Thorleifsson G, Thorsteinsdottir U, Uitterlinden AG, van Duijn CM, Vidal-Puig A, Wild SH, Wright AF, Clegg DJ, Schadt E, Wilson JF, Rudan I, Ripatti S, Borecki IB, Shuldiner AR, Ingelsson E, Jansson JO, Kaplan RC, Gudnason V, Harris TB, Groop L, Kiel DP, Rivadeneira F, Walker M, Barroso I, Vollenweider P, Waeber G, Chambers JC, Kooner JS, Soranzo N, Hirschhorn JN, Stefansson K, Wichmann HE, Ohlsson C, O'Rahilly S, Wareham NJ, Speliotes EK, Fox CS, Laakso M, Loos RJ
Nature genetics. Jan 2011
(DOI : 10.1038/ng.866)
Mitochondrial dysfunction in patients with primary congenital insulin resistance.
Sleigh A, Raymond-Barker P, Thackray K, Porter D, Hatunic M, Vottero A, Burren C, Mitchell C, McIntyre M, Brage S, Carpenter TA, Murgatroyd PR, Brindle KM, Kemp GJ, O'Rahilly S, Semple RK, Savage DB
The Journal of clinical investigation. Jan 2011
(DOI : 10.1172/JCI46405)
Analysis of TBC1D4 in patients with severe insulin resistance.
Dash S, Langenberg C, Fawcett KA, Semple RK, Romeo S, Sharp SJ, Sano H, Lienhard GE, Rochford JJ, Howlett T, Massoud AF, Hindmarsh P, Howell SJ, Wilkinson RJ, Lyssenko V, Groop L, Baroni MG, Barroso I, Wareham NJ, O'Rahilly S, Savage DB
Diabetologia. Oct 2009
(DOI : 10.1007/s00125-010-1724-x)
A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.
Richards JB, Waterworth D, O'Rahilly S, Hivert MF, Loos RJ, Perry JR, Tanaka T, Timpson NJ, Semple RK, Soranzo N, Song K, Rocha N, Grundberg E, Dupuis J, Florez JC, Langenberg C, Prokopenko I, Saxena R, Sladek R, Aulchenko Y, Evans D, Waeber G, Erdmann J, Burnett MS, Sattar N, Devaney J, Willenborg C, Hingorani A, Witteman JC, Vollenweider P, Glaser B, Hengstenberg C, Ferrucci L, Melzer D, Stark K, Deanfield J, Winogradow J, Grassl M, Hall AS, Egan JM, Thompson JR, Ricketts SL, König IR, Reinhard W, Grundy S, Wichmann HE, Barter P, Mahley R, Kesaniemi YA, Rader DJ, Reilly MP, Epstein SE, Stewart AF, van Duijn CM, Schunkert H, Burling K, Deloukas P, Pastinen T, Samani NJ, McPherson R, Davey Smith G, Frayling TM, Wareham NJ, Meigs JB, Mooser V, Spector TD
PLoS genetics. Jul 2009
(DOI : 10.1371/journal.pgen.1000768)
Dash S, Sano H, Rochford JJ, Semple RK, Yeo G, Hyden CS, Soos MA, Clark J, Rodin A, Langenberg C, Druet C, Fawcett KA, Tung YC, Wareham NJ, Barroso I, Lienhard GE, O'Rahilly S, Savage DB
Proceedings of the National Academy of Sciences of the United States of America. May 2009
(DOI : 10.1073/pnas.0900909106)
Tan K, Kimber WA, Luan J, Soos MA, Semple RK, Wareham NJ, O'Rahilly S, Barroso I
Diabetes. Mar 2007
(DOI : 10.2337/db06-0921)
Semple RK, Halberg NH, Burling K, Soos MA, Schraw T, Luan J, Cochran EK, Dunger DB, Wareham NJ, Scherer PE, Gorden P, O'Rahilly S
Diabetes. Feb 2007
(DOI : 10.2337/db06-1665)
Collins SC, Luan J, Thompson AJ, Daly A, Semple RK, O'Rahilly S, Wareham NJ, Barroso I
Diabetologia. Jul 2006
(DOI : 10.1007/s00125-006-0534-7)
Elevated plasma adiponectin in humans with genetically defective insulin receptors.
Semple RK, Soos MA, Luan J, Mitchell CS, Wilson JC, Gurnell M, Cochran EK, Gorden P, Chatterjee VK, Wareham NJ, O'Rahilly S
The Journal of clinical endocrinology and metabolism. May 2006
(DOI : 10.1210/jc.2006-0166)
