Metabolism, Endocrinology and Bone - Key Publications

Selected publications (2012 – 2014)
1. Doche ME, Bochukova EG, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S, Dale A,Cheetham T, Barroso I, Argetsinger LS, O'Rahilly S, Rui L, Carter-Su C, Farooqi IS. Human SH2B1 mutations are associated with maladaptive behaviors and obesity.J Clin Invest. 2012;122:4732-6


2. Ramachandrappa S, Raimondo A, Cali AM, Keogh JM, Henning E, Saeed S, Thompson A, Garg S, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O'Rahilly S, Peet DJ, Barroso I, Whitelaw ML, Farooqi IS. Rare variants in single-minded 1 (SIM1) are associated with severe obesity. J Clin Invest. 2013;123:3042-50


3. Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstråle M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS (co-corresponding), Majzoub JA. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Science 2013;341:275-8


4. Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JP, Crowne E, Barford D, Wareham NJ; UK10K consortium, O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS. KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.
Cell 2013;155:765-77


5. Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H, Loos RJ, Wareham NJ, O'Rahilly S, Hurles ME, Barroso I, Farooqi IS. Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nat Genet 2013;45:513-7


6. Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet. 2013;45:947-50


7. Hovorka R, Elleri D, Thabit H, Allen JM, Leelarathna L, El-Khairi R, Kumareswaran K, Caldwell K, Calhoun P, Kollman C, Murphy HR, Acerini CL, Wilinska ME, Nodale M, Dunger DB: Overnight Closed Loop Insulin Delivery in Young People with Type 1 Diabetes: A Free-Living Randomised Clinical Trial. Diabetes Care 2014;10.2337/DC13-2644


8. Sun Y*, Bak B*, Schoenmakers N*, van Trotsenburg ASP*, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SNM, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, CampiI, Bonomi M, Beck-Peccoz P, Zhu H, Davis TME, Hokken-Koelega ACS, Del Blanco DG, Rangasami JJ, Ruivenkamp CAL, Laros JFJ, Kriek M, Kant SG, Bosch CAJ, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GCJ, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K†, Dattani MT†, Wit JM†, Bernard DJ†. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nature Genetics (2012) 44: 1375-1381 (*coequal first authors; †coequal corresponding authors)


9. Sargeant TJ, Drage DJ, Wang S, Apostolakis AA, Cox TM, Cachón-González MB.(2012). Characterization of inducible models of Tay-Sachs and related disease. PLoS Genet. 2012;8(9):e1002943.


10. Compston JE, Flahive J, Hosmer DW, Watts NB, Siris ES, Silverman S, Saag KG, Roux C, Rossini M, Pfeilschifter J, Nieves JW, Netelenbos JC, March L, Lacroix AZ, Hooven FH, Greenspan SL, Gehlbach SH, Díez-Pérez A, Cooper C, Chapurlat RD, Boonen S, Anderson FA Jr, Adami S, Adachi JD; GLOW Investigators. Relationship of Weight, Height, and Body Mass Index With Fracture Risk at Different Sites in Postmenopausal Women: The Global Longitudinal Study of Osteoporosis in Women (GLOW). J Bone Miner Res. 2014;29:487-93.