Professor Sadaf Farooqi

Sadaf Farooqi

University position


Professor Sadaf Farooqi is pleased to consider applications from prospective PhD students.


Department of Clinical Biochemistry


Cambridge Institute for Medical Research (CIMR)


Home page

Research Themes

Clinical and Veterinary Neuroscience

Cellular and Molecular Neuroscience


Using a candidate gene approach in patients with severe, early onset obesity recruited to the Genetics Of Obesity Study (GOOS), we have identified patients with mutations in genes encoding leptin, the leptin receptor and targets of leptin action (including the melanocortin 4 receptor, MC4R). We have demonstrated that the central leptin-melanocortin axis plays a critical role in the regulation of human food intake. We are currently using neuroimaging particularly functional MRI to study the brain response to hunger and satiety in defined subsets of patients with molecularly defined causes for their obesity.

Research Focus






Clinical conditions



Behavioural analysis

Magnetic resonance imaging (MRI)



Ines Barroso

Ed Bullmore

Krishna Chatterjee

Tony Coll

Paul Fletcher

Ian Goodyer

Andrew Lawrence

Mike Murphy

Stephen O'Rahilly

Maria-Grazia Spillantini

Ian Wilkinson

Giles Yeo

United Kingdom

David Carling Web:

Margot Umpleby Web:


Sebastian Bouret Web:

Michael Bouvier Web:

Christian Carter-Su Web:

Roger Cone Web:

Michael Cowley Web:

Joseph Majzoub Web:

Greg Millhauser

Liangyou Rui Web:

Thue Schwartz Web:

Jan Tavernier Web:

Murray Whitelaw Web:

Associated News Items

Key publications

Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O’Rahilly S (2007), “Clinical and Molecular Genetic Spectrum of Congenital Leptin Receptor Deficiency” New Eng J 356(3):237-47 Details

Gray J, Yeo GSH, Cox JJ, Morton J, Adlam AL, Keogh JM, Yanovski JA, El Gharbawy A, Han JC, Tung YCL, Hodges JR, Raymond FL, O'Rahilly S, Farooqi IS (2006), “Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene” Diabetes 55(12):3366-3371

Yeo G, Connie Hung C, Rochford J, Keogh J, Gray J, Sivaramakrishnan S, O'Rahilly S, Farooqi IS (2004), “A de novo mutation affecting human TrkB associated with severe obesity and developmental delay” Nat Neurosci 7(11):1187-9 Details



Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT (2014), “A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.” Hum Mutat 35(3):289-93 Details

Ding Z, Mangino M, Aviv A, Spector T, Durbin R, UK10K Consortium (2014), “Estimating telomere length from whole genome sequence data.” Nucleic Acids Res 42(9):e75 Details

Farooqi IS (2014), “Defining the neural basis of appetite and obesity: from genes to behaviour.” Clin Med 14(3):286-9 Details

Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R, UK10K Consortium, Duchen MR, Muntoni F, Sheridan E (2014), “Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.” Nat Genet 46(2):188-93 Details

Pearce LR, Joe R, Doche ME, Su HW, Keogh JM, Henning E, Argetsinger LS, Bochukova EG, Cline JM, Garg S, Saeed S, Shoelson S, O'Rahilly S, Barroso I, Rui L, Farooqi IS, Carter-Su C (2014), “Functional characterisation of obesity-associated variants involving the alpha and beta isoforms of human SH2B1.” Endocrinology :en20141264 Details

Sullivan AE, Raimondo A, Schwab TA, Bruning JB, Froguel P, Farooqi IS, Peet DJ, Whitelaw ML (2014), “Characterisation of human variants in obesity-related SIM1 protein identifies a hotspot for dimerisation with the partner protein ARNT2.” Biochem J Details

van der Klaauw AA, von dem Hagen EA, Keogh JM, Henning E, O'Rahilly S, Lawrence AD, Calder AJ, Farooqi IS (2014), “Obesity-Associated Melanocortin-4 Receptor Mutations Are Associated With Changes in the Brain Response to Food Cues.” J Clin Endocrinol Metab :jc20141651 Details

Ziauddeen H, Subramaniam N, Cambridge VC, Medic N, Farooqi IS, Fletcher PC (2014), “Studying food reward and motivation in humans.” J Vis Exp (85) Details


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, Majzoub JA (2013), “Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.” Science 341(6143):275-8 Details

Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T, Tops B, Küsters B, Ceral J, Yeo GS, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS, Striessnig J, Nissen P, Brown MJ (2013), “Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.” Nat Genet 45(9):1055-60 Details

Cambridge VC, Ziauddeen H, Nathan PJ, Subramaniam N, Dodds C, Chamberlain SR, Koch A, Maltby K, Skeggs AL, Napolitano A, Farooqi IS, Bullmore ET, Fletcher PC (2013), “Neural and behavioral effects of a novel mu opioid receptor antagonist in binge-eating obese people.” Biol Psychiatry 73(9):887-94 Details

Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S, Farooqi IS (2013), “Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.” Mol Genet Metab 110(1-2):191-4 Details

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 (2013), “KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.” Cell 155(4):765-77 Details

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 (2013), “Rare variants in single-minded 1 (SIM1) are associated with severe obesity.” J Clin Invest 123(7):3042-50 Details

van der Klaauw AA, Keogh JM, Henning E, Blackwood A, Haqq AM, Purnell JQ, Farooqi IS (2013), “Postprandial total ghrelin suppression is modulated by melanocortin signaling in humans.” J Clin Endocrinol Metab 98(2):E288-92 Details

van der Klaauw AA, Keogh JM, Henning E, Trowse VM, Dhillo WS, Ghatei MA, Farooqi IS (2013), “High protein intake stimulates postprandial GLP1 and PYY release.” Obesity (Silver Spring) 21(8):1602-7 Details

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 (2013), “Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.” Nat Genet 45(5):513-7 Details


Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K (2012), “A mutation in the thyroid hormone receptor alpha gene.” N Engl J Med 366(3):243-9 Details

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 (2012), “Human SH2B1 mutations are associated with maladaptive behaviors and obesity.” J Clin Invest 122(12):4732-6 Details

Myint KS, Greenfield JR, Farooqi IS, Henning E, Holst JJ, Finer N (2012), “Prolonged successful therapy for hyperinsulinaemic hypoglycaemia after gastric bypass: the pathophysiological role of GLP1 and its response to a somatostatin analogue.” Eur J Endocrinol 166(5):951-5 Details

Ziauddeen H, Farooqi IS, Fletcher PC (2012), “Obesity and the brain: how convincing is the addiction model?” Nat Rev Neurosci 13(4):279-86 Details

Ziauddeen H, Subramaniam N, Gaillard R, Burke LK, Farooqi IS, Fletcher PC (2012), “Food images engage subliminal motivation to seek food.” Int J Obes (Lond) 36(9):1245-7 Details


Farooqi IS (2011), “Genetic, molecular and physiological insights into human obesity.” Eur J Clin Invest 41(4):451-5 Details

Farooqi IS (2011), “FTO and obesity: the missing link.” Cell Metab 13(1):7-8 Details

Ramachandrappa S, Farooqi IS (2011), “Genetic approaches to understanding human obesity.” J Clin Invest 121(6):2080-6 Details


Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, Hurles ME, Farooqi IS (2010), “Large, rare chromosomal deletions associated with severe early-onset obesity.” Nature 463(7281):666-70 Details

Fletcher PC, Napolitano A, Skeggs A, Miller SR, Delafont B, Cambridge VC, de Wit S, Nathan PJ, Brooke A, O'Rahilly S, Farooqi IS, Bullmore ET (2010), “Distinct modulatory effects of satiety and sibutramine on brain responses to food images in humans: a double dissociation across hypothalamus, amygdala, and ventral striatum.” J Neurosci 30(43):14346-55 Details

Mitchell CS, Savage DB, Dufour S, Schoenmakers N, Murgatroyd P, Befroy D, Halsall D, Northcott S, Raymond-Barker P, Curran S, Henning E, Keogh J, Owen P, Lazarus J, Rothman DL, Farooqi IS, Shulman GI, Chatterjee K, Petersen KF (2010), “Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.” J Clin Invest 120(4):1345-54 Details

Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Lango Allen H, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, Heid IM, Steinthorsdottir V, Stringham HM, Weedon MN, Wheeler E, Wood AR, Ferreira T, Weyant RJ, Segrè AV, Estrada K, Liang L, Nemesh J, Park JH, Gustafsson S, Kilpeläinen TO, Yang J, Bouatia-Naji N, Esko T, Feitosa MF, Kutalik Z, Mangino M, Raychaudhuri S, Scherag A, Smith AV, Welch R, Zhao JH, Aben KK, Absher DM, Amin N, Dixon AL, Fisher E, Glazer NL, Goddard ME, Heard-Costa NL, Hoesel V, Hottenga JJ, Johansson A, Johnson T, Ketkar S, Lamina C, Li S, Moffatt MF, Myers RH, Narisu N, Perry JR, Peters MJ, Preuss M, Ripatti S, Rivadeneira F, Sandholt C, Scott LJ, Timpson NJ, Tyrer JP, van Wingerden S, Watanabe RM, White CC, Wiklund F, Barlassina C, Chasman DI, Cooper MN, Jansson JO, Lawrence RW, Pellikka N, Prokopenko I, Shi J, Thiering E, Alavere H, Alibrandi MT, Almgren P, Arnold AM, Aspelund T, Atwood LD, Balkau B, Balmforth AJ, Bennet (2010), “Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.” Nat Genet 42(11):937-48 Details


Farooqi IS, O'Rahilly S (2009), “Leptin: a pivotal regulator of human energy homeostasis.” Am J Clin Nutr 89(3):980S-984S Details

Greenfield JR, Farooqi IS, Keogh JM, Henning E, Habib AM, Blackwood A, Reimann F, Holst JJ, Gribble FM (2009), “Oral glutamine increases circulating glucagon-like peptide 1, glucagon, and insulin concentrations in lean, obese, and type 2 diabetic subjects.” Am J Clin Nutr 89(1):106-13 Details

Greenfield JR, Miller JW, Keogh JM, Henning E, Satterwhite JH, Cameron GS, Astruc B, Mayer JP, Brage S, See TC, Lomas DJ, O'Rahilly S, Farooqi IS (2009), “Modulation of blood pressure by central melanocortinergic pathways.” N Engl J Med 360(1):44-52 Details

Tan K, Pogozheva ID, Yeo GS, Hadaschik D, Keogh JM, Haskell-Leuvano C, O'Rahilly S, Mosberg HI, Farooqi IS (2009), “Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.” Endocrinology 150(1):114-25 Details


Coll AP, Yeo GS, Farooqi IS, O'Rahilly S (2008), “SnapShot: the hormonal control of food intake.” Cell 135(3):572.e1-2 Details

Farooqi IS (2008), “Monogenic human obesity.” Front Horm Res 36:1-11 Details

Farooqi IS, O'Rahilly S (2008), “Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity.” Nat Clin Pract Endocrinol Metab 4(10):569-77 Details

Kimber W, Peelman F, Prieur X, Wangensteen T, O'Rahilly S, Tavernier J, Farooqi IS (2008), “Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor.” Endocrinology 149(12):6043-52 Details

O'Rahilly S, Farooqi IS (2008), “Human obesity as a heritable disorder of the central control of energy balance.” Int J Obes (Lond) 32 Suppl 7:S55-61 Details

O'Rahilly S, Farooqi IS (2008), “Human obesity: a heritable neurobehavioral disorder that is highly sensitive to environmental conditions.” Diabetes 57(11):2905-10 Details

Prieur X, Tung YC, Griffin JL, Farooqi IS, O'Rahilly S, Coll AP (2008), “Leptin regulates peripheral lipid metabolism primarily through central effects on food intake.” Endocrinology 149(11):5432-9 Details


Coll AP, Farooqi IS, O'Rahilly S (2007), “The hormonal control of food intake.” Cell 129(2):251-62 Details

Farooqi IS, Bullmore E, Keogh J, Gillard J, O'Rahilly S, Fletcher PC (2007), “Leptin regulates striatal regions and human eating behavior.” Science 317(5843):1355 Details

Farooqi IS, O'Rahilly S (2007), “Genetic factors in human obesity.” Obes Rev 8 Suppl 1:37-40 Details

Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S, Creemers JW (2007), “Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.” J Clin Endocrinol Metab 92(9):3369-73 Details

Gray J, Yeo G, Hung C, Keogh J, Clayton P, Banerjee K, McAulay A, O'Rahilly S, Farooqi IS (2007), “Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity.” Int J Obes (Lond) 31(2):359-64 Details

Hung CC, Luan J, Sims M, Keogh JM, Hall C, Wareham NJ, O'Rahilly S, Farooqi IS (2007), “Studies of the SIM1 gene in relation to human obesity and obesity-related traits.” Int J Obes (Lond) 31(3):429-34 Details

Lam DD, Farooqi IS, Heisler LK (2007), “Melanocortin receptors as targets in the treatment of obesity.” Curr Top Med Chem 7(11):1085-1097 Details


Bhattacharyya S, Luan J, Challis B, Keogh J, Montague C, Brennand J, Morten J, Lowenbeim S, Jenkins S, Farooqi IS, Wareham NJ, O'Rahilly S (2006), “Sequence variants in the melatonin-related receptor gene (GPR50) associate with circulating triglyceride and HDL levels.” J Lipid Res 47(4):761-6 Details

Christodoulides C, Scarda A, Granzotto M, Milan G, Dalla Nora E, Keogh J, De Pergola G, Stirling H, Pannacciulli N, Sethi JK, Federspil G, Vidal-Puig A, Farooqi IS, O'Rahilly S, Vettor R (2006), “WNT10B mutations in human obesity.” Diabetologia 49(4):678-84 Details

Farooqi IS (2006), “Genetic aspects of severe childhood obesity.” Pediatr Endocrinol Rev 3 Suppl 4:528-36 Details

Farooqi IS (2006), “The severely obese patient--a genetic work-up.” Nat Clin Pract Endocrinol Metab 2(3):172-7; quiz following 177 Details

Farooqi IS (2006), “Monogenic human obesity syndromes.” Prog Brain Res 153:119-25 Details

Farooqi IS, Drop S, Clements A, Keogh JM, Biernacka J, Lowenbein S, Challis BG, O'Rahilly S (2006), “Heterozygosity for a POMC-null mutation and increased obesity risk in humans.” Diabetes 55(9):2549-53 Details

Lee YS, Challis BG, Thompson DA, Yeo GS, Keogh JM, Madonna ME, Wraight V, Sims M, Vatin V, Meyre D, Shield J, Burren C, Ibrahim Z, Cheetham T, Swift P, Blackwood A, Hung CC, Wareham NJ, Froguel P, Millhauser GL, O'Rahilly S, Farooqi IS (2006), “A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.” Cell Metab 3(2):135-40 Details

O'Rahilly S, Farooqi IS (2006), “Genetics of obesity.” Philos Trans R Soc Lond B Biol Sci 361(1471):1095-105 Details


Farooqi IS (2005), “Genetic and hereditary aspects of childhood obesity.” Best Pract Res Clin Endocrinol Metab 19(3):359-74 Details

Farooqi IS, O'Rahilly S (2005), “Monogenic obesity in humans.” Annu Rev Med 56:443-58 Details

Semple RK, Achermann JC, Ellery J, Farooqi IS, Karet FE, Stanhope RG, O'rahilly S, Aparicio SA (2005), “Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.” J Clin Endocrinol Metab 90(3):1849-55 Details


Bhattacharyya S, Luan J, Farooqi IS, Keogh J, Montague C, Brennand J, Jorde L, Wareham NJ, O'Rahilly S (2004), “Studies of the neuromedin U-2 receptor gene in human obesity: evidence for the existence of two ancestral forms of the receptor.” J Endocrinol 183(1):115-20 Details

Challis BG, Luan J, Keogh J, Wareham NJ, Farooqi IS, O'Rahilly S (2004), “Genetic variation in the corticotrophin-releasing factor receptors: identification of single-nucleotide polymorphisms and association studies with obesity in UK Caucasians.” Int J Obes Relat Metab Disord 28(3):442-6 Details

Coll AP, Farooqi IS, Challis BG, Yeo GS, O'Rahilly S (2004), “Proopiomelanocortin and energy balance: insights from human and murine genetics.” J Clin Endocrinol Metab 89(6):2557-62 Details

Farooqi IS, O'Rahilly S (2004), “Monogenic human obesity syndromes.” Recent Prog Horm Res 59:409-24 Details

Gibson WT, Ebersole BJ, Bhattacharyya S, Clayton P, Farooqi IS, Sealfon SC, O'Rahilly S (2004), “Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity.” Can J Physiol Pharmacol 82(6):426-9 Details

Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA (2004), “Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.” J Clin Endocrinol Metab 89(10):4821-6 Details

Gibson WT, Pissios P, Trombly DJ, Luan J, Keogh J, Wareham NJ, Maratos-Flier E, O'Rahilly S, Farooqi IS (2004), “Melanin-concentrating hormone receptor mutations and human obesity: functional analysis.” Obes Res 12(5):743-9 Details

Hung CC, Pirie F, Luan J, Lank E, Motala A, Yeo GS, Keogh JM, Wareham NJ, O'Rahilly S, Farooqi IS (2004), “Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and obesity-related traits.” Diabetes 53(9):2461-6 Details


Bhattacharyya S, Luan J, Challis B, Schmitz C, Clarkson P, Franks PW, Middelberg R, Keogh J, Farooqi IS, Montague C, Brennand J, Wareham NJ, O'Rahilly S (2003), “Association of polymorphisms in GPR10, the gene encoding the prolactin-releasing peptide receptor with blood pressure, but not obesity, in a U.K. Caucasian population.” Diabetes 52(5):1296-9 Details

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

Franks PW, Farooqi IS, Luan J, Wong MY, Halsall I, O'Rahilly S, Wareham NJ (2003), “Does physical activity energy expenditure explain the between-individual variation in plasma leptin concentrations after adjusting for differences in body composition?” J Clin Endocrinol Metab 88(7):3258-63 Details

Hung CC, Farooqi IS, Ong K, Luan J, Keogh JM, Pembrey M, Yeo GS, Dunger D, Wareham NJ, O' Rahilly S (2003), “Contribution of variants in the small heterodimer partner gene to birthweight, adiposity, and insulin levels: mutational analysis and association studies in multiple populations.” Diabetes 52(5):1288-91 Details

O'Rahilly S, Farooqi IS, Yeo GS, Challis BG (2003), “Minireview: human obesity-lessons from monogenic disorders.” Endocrinology 144(9):3757-64 Details

Yeo GS, Lank EJ, Farooqi IS, Keogh J, Challis BG, O'Rahilly S (2003), “Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.” Hum Mol Genet 12(5):561-74 Details


Challis BG, Pritchard LE, Creemers JW, Delplanque J, Keogh JM, Luan J, Wareham NJ, Yeo GS, Bhattacharyya S, Froguel P, White A, Farooqi IS, O'Rahilly S (2002), “A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.” Hum Mol Genet 11(17):1997-2004 Details

Farooqi IS (2002), “Leptin and the onset of puberty: insights from rodent and human genetics.” Semin Reprod Med 20(2):139-44 Details

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 (2002), “Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.” J Clin Invest 110(8):1093-103 Details


Farooqi IS, Keogh JM, Kamath S, Jones S, Gibson WT, Trussell R, Jebb SA, Lip GY, O'Rahilly S (2001), “Partial leptin deficiency and human adiposity.” Nature 414(6859):34-5 Details

Halsall DJ, Luan J, Saker P, Huxtable S, Farooqi IS, Keogh J, Wareham NJ, O'Rahilly S (2001), “Uncoupling protein 3 genetic variants in human obesity: the c-55t promoter polymorphism is negatively correlated with body mass index in a UK Caucasian population.” Int J Obes Relat Metab Disord 25(4):472-7 Details


Challis BG, Yeo GS, Farooqi IS, Luan J, Aminian S, Halsall DJ, Keogh JM, Wareham NJ, O'Rahilly S (2000), “The CART gene and human obesity: mutational analysis and population genetics.” Diabetes 49(5):872-5 Details

Farooqi IS, Jones MK, Evans M, O'Rahilly S, Hodges JR (2000), “Triple H syndrome: a novel autoimmune endocrinopathy characterized by dysfunction of the hippocampus, hair follicle, and hypothalamic-pituitary adrenal axis.” J Clin Endocrinol Metab 85(8):2644-8 Details

Farooqi IS, O'Rahilly S (2000), “Recent advances in the genetics of severe childhood obesity.” Arch Dis Child 83(1):31-4 Details

Farooqi IS, Yeo GS, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S (2000), “Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.” J Clin Invest 106(2):271-9 Details

Yeo GS, Farooqi IS, Challis BG, Jackson RS, O'Rahilly S (2000), “The role of melanocortin signalling in the control of body weight: evidence from human and murine genetic models.” QJM 93(1):7-14 Details


Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S (1999), “Effects of recombinant leptin therapy in a child with congenital leptin deficiency.” N Engl J Med 341(12):879-84 Details


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 (1997), “Congenital leptin deficiency is associated with severe early-onset obesity in humans.” Nature 387(6636):903-8 Details