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Feb 2017 The Endocrine Society have just issued new Clinical Practice Guidelines advising healthcare professionals on how to assess, prevent and treat childhood obesity.

 

Jan 2017 Professor Farooqi spoke to Jim Al-Khalili on BBC Radio Four's The Life Scientific. You can listen to the interview here.

 

Publications

 

Recent|Selected Reviews|Leptin|Leptin Receptor|MC4R|POMC|PCSK1|CNV/GWAS|BDNF|

KSR2|MRAP2|SH2B1|SIM-1|TUB|Eating Behaviour|Additional Papers

 

Recent Publications

 

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.

Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF, UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N.

Nat Commun. 2015 Sep; PMID: 26368830

 

 

The UK10K project identifies rare variants in health and disease.

UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N.

Nature. 2015 Oct; PMID: 26367797

 

 

The Sleep/Wake Cycle is Directly Modulated by Changes in Energy Balance.

Collet TH, van der Klaauw AA, Henning E, Keogh JM, Suddaby D, Dachi SV, Dunbar S, Kelway S, Dickson SL, Farooqi IS, Schmid SM.

Sleep. 2016 Jun; pii:sp-00156-16. [Epub ahead of print] PMID: 27306267

 

 

Divergent effects of central melanocortin signalling on fat and sucrose preference in humans.

van der Klaauw AA, Keogh JM, Henning E, Stephenson C, Kelway S, Trowse VM, Subramaniam N, O'Rahilly S, Fletcher PC, Farooqi IS.

Nat Commun. 2016 Oct;

 

 


 

Selected Reviews

 

The severely obese patient--a genetic work-up.

Farooqi IS.

Nat Clin Pract Endocrinol Metab. 2006 Mar; PMID: 16932276

 

 

Genetic approaches to understanding human obesity.

Ramachandrappa S, Farooqi IS.

J Clin Invest. 2011 Jun; PMID: 21633175

 

 

Obesity and the brain: how convincing is the addiction model?

Ziauddeen H, Farooqi IS, Fletcher PC.

Nat Rev Neurosci. 2012 Mar; PMID: 22414944

 

 

20 YEARS OF LEPTIN: Human disorders of leptin action.

Farooqi IS, O'Rahilly S.

J Endocrinology. 2014 Oct; PMID: 25232148

 

 

The Hunger Genes: Pathways to Obesity.

van der Klaauw AA, Farooqi IS.

Cell. 2015 Mar; PMID: 25815990

View pdf

 

 


 

Leptin

 

Congenital leptin deficiency is associated with severe early-onset obesity in humans.

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.

Nature. 1997 Jun; PMID: 9202122

 

 

Effects of recombinant leptin therapy in a child with congenital leptin deficiency.

Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O’Rahilly S.

N Engl J Med. 1999 Sep; PMID: 10486419

 

 

Partial leptin deficiency and human adiposity.

Farooqi IS, Keogh JM, Kamath S, Jones S, Gibson WT, Trussell R, Jebb SA, Lip GY, O'Rahilly S.

Nature. 2001 Nov 1; PMID: 11689931

 

 

Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.

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.

J Clin Invest. 2002 Oct; PMID: 12393845

 

 

Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.

Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA.

J Clin Endocrinol Metab. 2004 Oct; PMID: 15472169

 

 

Leptin regulates striatal regions and human eating behavior.

Farooqi IS, Bullmore E, Keogh J, Gillard J, O'Rahilly S, Fletcher PC.

Science. 2007 Sep; PMID: 17690262

 

 

Leptin mediates the increase in blood pressure associated with obesity.

Simonds SE, Pryor JT, Ravussin E, Greenway FL, Dileone R, Allen AM, Bassi J, Elmquist JK, Keogh JM, Henning E, Myers MG Jr, Licinio J, Brown RD, Enriori PJ, O'Rahilly S, Sternson SM, Grove KL, Spanswick DC, Farooqi IS, Cowley MA.

Cell. 2014 Dec; PMID: 25480301

 

 

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.

Wabitsch M, Funcke JB, von Schnurbein J, Denzer F, Lahr G, Mazen I, El-Gammal M, Denzer C, Moss A, Debatin KM, Gierschik P, Mistry V, Keogh JM, Farooqi IS, Moepps B, Fischer-Posovszky P.

J Clin Endocrinol Metab. 2015 Sep; PMID: 26186301

 

 


 

Leptin Receptor

 

 

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

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.

N Engl J Med. 2007 Jan; PMID: 17229951

 

 

Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor.

Kimber W, Peelman F, Prieur X, Wangensteen T, O'Rahilly S, Tavernier J, Farooqi IS.

Endocrinology. 2008 Dec; PMID: 18703626

 

 


 

MC4R

 

A frameshift mutation in MC4R associated with dominantly inherited human obesity.

Yeo GS, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG, O'Rahilly S.

Nat Genet. 1998 Oct; PMID: 9771698

 

 

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.

Farooqi IS, Yeo GS, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S.

J Clin Invest. 2000 Jul; PMID: 10903343

 

 

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S.

N Engl J Med. 2003 Mar 20; PMID: 12646665

 

 

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

Yeo GS, Lank EJ, Farooqi IS, Keogh J, Challis BG, O'Rahilly S.

Hum Mol Genet. 2003 Mar; PMID: 12588803

 

 

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.

Alharbi KK, Spanakis E, Tan K, Smith MJ, Aldahmesh MA, O'Dell SD, Sayer AA, Lawlor DA, Ebrahim S, Davey Smith G, O'Rahilly S, Farooqi S, Cooper C, Phillips DI, Day IN.

Hum Mutat. 2007 Mar; PMID: 17072869

 

 

The central melanocortin system directly controls peripheral lipid metabolism.

Nogueiras R, Wiedmer P, Perez-Tilve D, Veyrat-Durebex C, Keogh JM, Sutton GM, Pfluger PT, Castaneda TR, Neschen S, Hofmann SM, Howles PN, Morgan DA, Benoit SC, Szanto I, Schrott B, Schürmann A, Joost HG, Hammond C, Hui DY, Woods SC, Rahmouni K, Butler AA, Farooqi IS, O'Rahilly S, Rohner-Jeanrenaud F, Tschöp MH.

J Clin Invest. 2007 Nov; PMID: 17885689

 

 

Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

Stutzmann F, Tan K, Vatin V, Dina C, Jouret B, Tichet J, Balkau B, Potoczna N, Horber F, O'Rahilly S, Farooqi IS, Froguel P, Meyre D.

Diabetes. 2008 Sep; PMID: 18559663

 

 

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Tan K, Pogozheva ID, Yeo GS, Hadaschik D, Keogh JM, Haskell-Leuvano C, O'Rahilly S, Mosberg HI, Farooqi IS.

Endocrinology. 2009 Jan; PMID: 18801902

 

 

Modulation of blood pressure by central melanocortinergic pathways.

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.

N Engl J Med. 2009 Jan; PMID: 19092146

 

 

Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion.

Martinelli CE, Keogh JM, Greenfield JR, Henning E, van der Klaauw AA, Blackwood A, O'Rahilly S, Roelfsema F, Camacho-Hübner C, Pijl H, Farooqi IS.

J Clin Endocrinol Metab. 2011 Jan; PMID: 21047921

 

 

Melanocortin-4 receptor signalling is required for weight loss after gastric bypass surgery.

Hatoum IJ, Stylopoulos N, Vanhoos AM, Boyd KL, Yin DP, Ellacott KL, Ma LL, Blaszczyk K, Keogh JM, Cone RD, Farooqi IS, Kaplan LM.

J Clin Endocrinol Metab. 2012 Jun; PMID: 22492873

 

 

Postprandial total ghrelin suppression is modulated by melanocortin signaling in humans.

van der Klaauw AA, Keogh JM, Henning E, Blackwood A, Haqq AM, Purnell JQ, Farooqi IS.

J Clin Endocrinol Metab. 2013 Feb; PMID: 23316086

 

 


 

POMC

 

A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.

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.

Hum Mol Genet. 2002 Aug; PMID: 12165561

 

 

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.

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.

Cell Metab. 2006 Feb; PMID: 16459314

 

 

Heterozygosity for a POMC-null mutation and increased obesity risk in humans.

Farooqi IS, Drop S, Clements A, Keogh JM, Biernacka J, Lowenbein S, Challis BG, O'Rahilly S.

Diabetes. 2006 Sep; PMID: 16936203

 

 

Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway.

Creemers JW, Lee YS, Oliver RL, Bahceci M, Tuzcu A, Gokalp D, Keogh J, Herber S, White A, O'Rahilly S, Farooqi IS.

J Clin Endocrinol Metab. 2008 Nov; PMID: 18697863

 

 


 

PCSK1

 

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.

Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S.

Nat Genet. 1997 Jul; PMID: 9207799

 

 

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.

Jackson RS, Creemers JW, Farooqi IS, Raffin-Sanson ML, Varro A, Dockray GJ, Holst JJ, Brubaker PL, Corvol P, Polonsky KS, Ostrega D, Becker KL, Bertagna X, Hutton JC, White A, Dattani MT, Hussain K, Middleton SJ, Nicole TM, Milla PJ, Lindley KJ, O'Rahilly S.

J Clin Invest. 2003 Nov; PMID: 14617756

 

 

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S, Creemers JW.

J Clin Endocrinol Metab. 2007 Sep; PMID: 17595246

 

 

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.

Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S, Farooqi IS.

Mol Genet Metab. 2013 Oct; PMID: 23800642

 

 


 

CNV/GWAS

 

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS.

Nature. 2010 Feb 4; PMID: 20130649

 

 

Large, rare chromosomal deletions associated with severe early-onset obesity.

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.

Nature. 2010 Feb; PMID: 19966786

 

 

A genome-wide association meta-analysis identifies brand new childhood obesity loci.

Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, Salem RM, Schumacher FR, Cousminer DL, Sleiman PM, Zhao J, Berkowitz RI, Vimaleswaran KS, Jarick I, Pennell CE, Evans DM, St Pourcain B, Berry DJ, Mook-Kanamori DO, Hofman A, Rivadeneira F, Uitterlinden AG, van Duijn CM, van der Valk RJ, de Jongste JC, Postma DS, Boomsma DI, Gauderman WJ, Hassanein MT, Lingren CM, Mägi R, Boreham CA, Neville CE, Moreno LA, Elliott P, Pouta A, Hartikainen AL, Li M, Raitakari O, Lehtimäki T, Eriksson JG, Palotie A, Dallongeville J, Das S, Deloukas P, McMahon G, Ring SM, Kemp JP, Buxton JL, Blakemore AI, Bustamante M, Guxens M, Hirschhorn JN, Gillman MW, Kreiner-Møller E, Bisgaard H, Gilliland FD, Heinrich J, Wheeler E, Barroso I, O'Rahilly S, Meirhaeghe A, Sørensen TI, Power C, Palmer LJ, Hinney A, Widen E, Farooqi IS, McCarthy MI, Frougel P, Meyre D, Hebebrand J, Jarvelin MR, Jaddoe VW, Smith GD, Hakonarson H, Grant SF, Early Growth Genetics Consortium.

Nat Genet. 2012 May; PMID: 22484627

 

 

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

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.

Nat Genet. 2013 May; PMID: 23563609

 

 


 

BDNF

 

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

Yeo GS, Connie Hung CC, Rochford J, Keogh J, Gray J, Sivaramakrishnan S, O'Rahilly S, Farooqi IS.

Nat Neurosci. 2004 Nov; PMID: 15494731

 

 

Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene.

Gray J, Yeo GS, Cox JJ, Morton J, Adlam AL, Keogh JM, Yanovski JA, El Gharbawy A, Han JC, Tung YC, Hodges JR, Raymond FL, O'Rahilly S, Farooqi IS.

Diabetes. 2006 Dec; PMID: 17130481

 

 

Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity.

Gray J, Yeo G, Hung C, Keogh J, Clayton P, Banerjee K, McAulay A, O'Rahilly S, Farooqi IS.

Int J Obes (Lond). 2007 Feb; PMID: 16702999

 

 


 

KSR2

 

KSR2 Mutations Are Associated with Obesity, Insulin Resistance and Impaired Cellular Fuel Oxidation.

Pearce L, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revilli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EB, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JPH, Crowne E, Barford D, Wareham NJ, UK10K Consortium, O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS.

Cell. 2013 Nov; PMID: 24209692

 

 


 

MRAP2

 

Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity.

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.

Science. 2013 Aug 30; PMID: 23869016

 

 


 

SH2B1

 

Human SH2B1 mutations are associated with maladaptive behaviours and obesity.

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.

J Clin Invest. 2012 Dec; PMID: 23160192

 

 

Functional characterisation of obesity-associated variants involving the alpha and beta isoforms of human SH2B1.

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.

Endocrinology. 2014 Jun; PMID: 24971614

 

 


 

SIM-1

 

Rare variants in single-minded 1 (SIM1) are associated with severe obesity.

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.

J Clin Invest. 2013 Jul; PMID: 23778139

 

 

Characterisation of human variants in obesity-related SIM1 protein identifies a hotspot for dimerisation with the partner protein ARNT2.

Sullivan AE, Raimondo A, Schwab TA, Bruning JB, Froguel P, Farooqi IS, Peet DJ, Whitelaw ML.

Biochem J. 2014 Aug; PMID: 24814368

 

 


 

TUB

 

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity.

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.

Hum Mutat. 2014 Mar; PMID: 24375934

 

 


 

Eating Behaviour

 

Distinct modulatory effects of satiety and sibutramine on brain responses to food images in humans: a double dissociation across hypothalamus, amygdala, and ventral striatum.

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.

J Neurosci. 2010 Oct; PMID: 20980590

 

 

Neural and behavioral effects of a novel mu opioid receptor antagonist in binge-eating obese people.

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.

Biol Psychiatry. 2013 May; PMID: 23245760

 

 

Studying food reward and motivation in humans.

Ziauddeen H, Subramaniam N, Cambridge VC, Medic N, Farooqi IS, Fletcher PC.

J Vis Exp. 2014 Mar; PMID: 24686284

 

 

Increased body mass index is associated with specific regional alterations in brain structure.

Medic N, Ziauddeen H, Ersche KD, Farooqi IS, Bullmore ET, Nathan PJ, Ronan L, Fletcher PC.

Int J Obes (Lond). 2016 Jul; PMID: 27089992

 

 


 

Additional Papers

 

A mutation in the thyroid hormone receptor alpha gene.

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, Khadem FV, Dattani M, Farooqi IS, Gurnell M, Chatterjee K.

N Engl J Med. 2012 Jan; PMID: 22168587

 

 

 

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