Newcastle University

Institute of Genetic Medicine Publications

Year: 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2002 2001 2000 1999 1998 1997 1996 1995 1994 1993 1992 1991 1990 1989 1988 1987 1986 1985 1984 1979 1978

• Allamand V, Merlini L, Bushby K. 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Neuromuscular Disorders 2010, 20(5), 346-354.
• Quinlivan R, Shaw N, Bushby K. 170th ENMC International Workshop: Bone protection for corticosteroid treated Duchenne muscular dystrophy. 27-29 November 2009, Naarden, The Netherlands. Neuromuscular Disorders 2010, 20(11), 761-769.
• van Engelen K, Topf A, Keavney BD, Goodship JA, van der Velde ET, Baars MJH, Snijder S, Moorman AF, Postma AV, Mulder BJM. 22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia. Heart 2010, 96(8), 621-624.
• Batey S, Vuillaume I, Devos D, Destee A, Curtis AJ, Lombes A, Curtis A, Burn J, Chinnery PF. A novel FTL insertion causing neuroferritinopathy. Journal of Medical Genetics 2010. BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND: B M J PUBLISHING GROUP, 47(1), 71-72.
• Alston CL, Morak M, Reid C, Hargreaves IP, Pope SAS, Land JM, Heales SJ, Horvath R, Mundy H, Taylor RW. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy. Neuromuscular Disorders 2010, 20(2), 131-135.
• Al-Hamed M, Sayer J, Al-Hassoun I, Aldahmesh M, Meyer B. A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family. NDT Plus 2010, 3(6), 545-548.
• Michell A, Braganca J, Broadbent C, Joyce B, Franklyn A, Schneider JE, Bhattacharya S, Bamforth SD. A novel role for transcription factor Lmo4 in thymus development through genetic interaction with Cited2. Developmental Dynamics 2010, 239(7), 1988-1994.
• Massey EM, Hunter A, Lowell J, Steel DH. A robust lesion boundary segmentation algorithm using level set methods. In: World Congress on Medical Physics and Biomedical Engineering. 2010, Munich, Germany: Springer.
• Advani A, Johnson SJ, Nicol MR, Papacleovoulou G, Evans DB, Vaikkakara S, Mason JI, Quinton R. Adult-onset hypogonadotropic hypogonadism caused by aberrant expression of aromatase in an adrenocortical adenocarcinoma. Endocrine Journal 2010,57 7 651-656.
• Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Staniforth SJ, Holmes LV, Ward R, Morgan L, Goodship THJ, Marchbank KJ. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood 2010, 115(2), 379-387.
• Hughes AE, Orr N, Cordell HJ, Goodship T. Associations of CFHR1-CFHR3 deletion and a CFH snp to age-related macular degeneration are not independent reply. Nature Genetics 2010. , 42(7), 555-556.
• Bauer R, Blain A, Greally E, Lochmuller H, Bushby K, MacGowan GA, Straub V. Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism. Neuromuscular Disorders 2010, 20(1), 21-28.
• Kavanagh D, Goodship THJ. Atypical hemolytic uremic syndrome. Current Opinion in Hematology 2010,17 5 432-438.
• Al-Diri B, Hunter A, Steel D, Habib M. Automated analysis of retinal vascular network connectivity. Computerized Medical Imaging and Graphics 2010, 34(6), 462-470.
• Florio F, Cesaro E, Montano G, Izzo P, Miles C, Costanzo P. Biochemical and functional interaction between ZNF224 and ZNF255, two members of the Kruppel-like zinc-finger protein family and WT1 protein isoforms. Human Molecular Genetics 2010,19 18 3544-3556.
• Burn J, Mathers JC, Gerdes AM, Bisgaard ML, Evans G, Eccles D, Lindblom A, Macrae F, Maher ER, Mecklin JP, Moslein G, Olschwang S, Ramesar R, Vasen HFA, Wijnen J, Barker G, Elliott F, Lynch H, Bishop DT, CAPP2 Consortium. Cancer Occurrence During Follow-Up of the CAPP2 Study: Aspirin Use For Up To Four Years Significantly Reduces Lynch Syndrome Cancers for up to Several Years After Completion of Therapy. In: Annals of Oncology: European Multidisciplinary Colorectal Cancer Congress.2010,Nice, France:Oxford University Press
• Young G. Chapter Fifty-Nine to Sixty-Three. In: Hardy, K, ed. Coronation Street: The Complete Saga. London: Carlton Books, 2010, pp.1025-1132.
• Cunnington MS, Santibanez Koref M, Mayosi BM, Burn J, Keavney B. Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. PLoS Genetics 2010, 6(4), e1000899.
• Taylor CM, Machin S, Wigmore SJ, Goodship THJ, Renal Association, British Committee for Standards in Haematology, British Transplantation Society. Clinical Practice Guidelines for the management of atypical Haemolytic Uraemic Syndrome in the United Kingdom. British Journal of Haematology 2010, 148(1), 37-47.
• Sandhu SS, Steel DH. Comment on macular full-thickness and lamellar holes in association with type 2 idiopathic macular telangiectasia. Eye 2010, 24(6), 1119.
• Dhillon B, Wright AF, Tufail A, Pappworth I, Hayward C, Moore I, Strain L, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Armbrecht AM, Laude A, Deary IJ, Staniforth SJ, Holmes LV, Goodship THJ, Marchbank KJ. Complement Factor H Autoantibodies and Age-Related Macular Degeneration. Investigative Ophthalmology & Visual Science 2010,51 11 5858-5863.
• Lehmann R, Fichtlscherer S, Schachinger V, Held L, Hobler C, Baier G, Zeiher AM, Spyridopoulos I. Complete Revascularization in Patients Undergoing Multivessel PCI is an Independent Predictor of Improved Long-term Survival. Journal of Interventional Cardiology 2010, 23(3), 256-263.
• Cheetham T. Congenital hypothyroidism: Managing the hinterland between fact and theory. Archives of Disease in Childhood 2010, 96, 205.
• Assenova A, Dimova P, Bojinova V, Mihaylova V, Jordanova A, Müller J, Abicht A, Gerguelcheva V, Lochmüller H. Congenital myasthenic syndrome in two siblings with two mutations in epsilon subunit Gene of the acetylcholine receptor. Pediatriya 2010, 50(1), 33-36.
• Britton KM, Harvey IJ, Stemke-Hale K, Lennard TWJ, Meeson AP. Could side population cells be an indicator of progression to hormone nonresponsive breast cancer. In: Breast Cancer Research: Conference on Breast Cancer Research. 2010, London, UK: Current Medicine Group Ltd.
• Liu YL, Elliott DJ. Coupling genetics and post-genomic approaches to decipher the cellular splicing code at a systems-wide level. In: Biochemical Society Transactions: 13th Tenovus Scotland Symposium - Gene Expression in Development and Disease.2010,Glasgow, UK:Portland Press Ltd.
• Wolstenholme J, Rooney D. Cytogenetics in the 1970s and 1980s. Prenatal Diagnosis 2010, 30(7), 605-607.
• Chinnery PF. Defining neurogenetic phenotypes (or how to compare needles in haystacks). Brain 2010. Oxford: Oxford University Press, 133, 649-651.
• Samuels DC, Chinnery PF. Detecting genes in complex disease: does phenotype accuracy limit the horizon? Reply. Trends in Genetics 2010. London: Elsevier Science, 26(6), 242-243.
• Pearce SHS, Cheetham TD. Diagnosis and management of vitamin D deficiency. British Medical Journal 2010,340 7738 142-147.
• Sandhu SS, Manvikar S, Steel DH. Displacement of submacular hemorrhage associated with age-related macular degeneration using vitrectomy and submacular tPA injection followed by intravitreal ranibizumab. Clinical Ophthalmology 2010, 4, 637-642.
• Grube M, Cooper FE, Chinnery PF, Griffiths TD. Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration. Proceedings of the National Academy of Sciences of the USA 2010, 107(25), 11597-11601.
• Ondo WG, Adam OR, Jankovic J, Chinnery PF. Dramatic Response of Facial Stereotype/Tic to Tetrabenazine in the First Reported Cases of Neuroferritinopathy in the United States. Movement Disorders 2010, 25(14), 2470-2472.
• Klinge L, Harris JB, Charlton R, Laval S, Hornsey M, Chiu Y, Straub V, Lochmuller H, Bushby K. Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle and Nerve 2010, 41(2), 166-173.
• Rajan N, Lord CJ, Clewes O, Burn J, Sieber-Blum M, Ashworth A. Dysregulated tropomyosin receptor kinase signalling in CYLDtrunc/trunc tumours. In: Annual Meeting of the British Society for Investigative Dermatology. 2010, Edinburgh, Scotland: British Journal of Dermatology.
• Abdul Shakoor SK, Aldibbiat A, Ingoe LE, Campbell SC, Sibal L, Shaw J, Home PD, Razvi S, Weaver JU. Endothelial Progenitor Cells in Subclinical Hypothyroidism: The Effect of Thyroid Hormone Replacement Therapy. Journal of Clinical Endocrinology and Metabolism 2010, 95(1), 319-322.
• Steel DHW, Connor A, Habib MS, Owen R. Entry site treatment to prevent late recurrent postoperative vitreous cavity haemorrhage after vitrectomy for proliferative diabetic retinopathy. British Journal of Ophthalmology 2010, 94(9), 1219-1225.
• Hu YF, Gourab K, Wells C, Clewes O, Schmit BD, Sieber-Blum M. Epidermal Neural Crest Stem Cell (EPI-NCSC)-Mediated Recovery of Sensory Function in a Mouse Model of Spinal Cord Injury. Stem Cell Reviews and Reports 2010, 6(2), 186-198.
• Sieber-Blum M. Epidermal neural crest stem cells and their use in mouse models of spinal cord injury. Brain Research Bulletin 2010, 83(5), 189-193.
• Groom A, Elliott HR, Embleton ND, Relton CL. Epigenetics and child health: basic principles. Archives of Disease in Childhood 2010, (epub ahead of print).
• MacGowan GA, Neely D, Peaston R, Wrightson N, Parry G. Evaluation of NT-proBNP to predict outcomes in advanced heart failure. International Journal of Clinical Practice 2010, 64(7), 892-899.
• Tilgner K, Atkinson SP, Yung S, Golebiewska A, Stojkovic M, Moreno R, Lako M, Armstrong L. Expression of GFP Under the Control of the RNA Helicase VASA Permits Fluorescence-Activated Cell Sorting Isolation of Human Primordial Germ Cells. Stem Cells 2010, 28(1), 84-92.
• Ritchie AE, Griffiths PG, Chinnery PF, Davidson AW. Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study. British Journal of Ophthalmology 2010, 94(9), 1165-1168.
• Pyle A, Burn DJ, Gordon C, Swan C, Chinnery PF, Baudouin SV. Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis. Intensive Care Medicine 2010, 36(6), 956-962.
• Crompton DE, Scheffer IE, Taylor I, Cook MJ, McKelvie PA, Vears DF, Lawrence KM, McMahon JM, Grinton BE, McIntosh AM, Berkovic SF. Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. Brain 2010,133 11 3221-3231.
• Ioannides AS, Massa V, Ferraro E, Cecconi F, Spitz L, Henderson DJ, Copp AJ. Foregut separation and tracheo-oesophageal malformations: The role of tracheal outgrowth, dorso-ventral patterning and programmed cell death. Developmental Biology 2010, 337(2), 351-262.
• Nakatomi M, Wang XP, Key D, Lund JJ, Turbe-Doan A, Kist R, Aw A, Chen YP, Maas RL, Peters H. Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Developmental Biology 2010, 340(2), 438-449.
• Hudson G, Stutt A, Eccles M, Robinson L, Allcock LM, Wesnes KA, Chinnery PF, Burn DJ. Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease. Neuroscience Letters 2010, 479(2), 123-125.
• Kavanagh D, Goodship T. Genetics and complement in atypical HUS. Pediatric Nephrology 2010. ,25 12 2431-2442.
• Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JMC, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JMM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Armer M, Maller J, Mansfield J, Martin P, Massey DCO, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C, Myers S, Newman W, Nimmo ER, O'Donovan MC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Pernet D, Perry JRB, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick A, Ring SM, Robertson N, Russell E, St Clair D, Sambrook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DPM, Thompson JR, Thomson W, Travers ME, Turnbull C, Valsesia A, Walker M, Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SCL, Hall AS, Hattersley AT, Hill AVS, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Parkes M, Rahman N, Todd JA, Samani NJ, Donnelly P, Wellcome Trust Case Control. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010, 464(7289), 713-U86.
• Keefe KW, Hoang XH, Plummer L, Dwyer AA, Au MG, Sykiotis GP, Thambundit A, Raivio T, Jacobson-Dickman E, Quinton R, Hughes VA, Seminara SB, Hayes FJ, Hall JE, Crowley WF, Pitteloud N. Genotype Prediction Based on Clinical Features of GnRH Deficiency. In: Endocrine Reviews: 92nd Meeting and Expo of the Endocrine Society (ENDO). 2010, San Diego, California, USA: The Endocrine Society.
• Geranmayeh F, Clement E, Feng L, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs A, Jungbluth H, De Goede C, Lynch B, Lin J, Chow G, Sousa C, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscular Disorders 2010, 20(4), 241-250.
• Moreno-Gimeno I, Ledran MH, Lako M. Hematopoietic differentiation from human ESCs as a model for developmental studies and future clinical translations. Invited review following the FEBS Anniversary Prize received on 5 July 2009 at the 34th FEBS Congress in Prague. FEBS Journal 2010, 277(24), 5014-5025.
• Mitchell AL, Pearce SHS. How should we treat patients with low serum thyrotropin concentrations?. Clinical Endocrinology 2010, 72(3), 292-296.
• Kohonen-Corish MRJ, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I, Beroud C, Burn J, Cunningham F, Cutting GR, den Dunnen JT, Greenblatt MS, Kaput J, Katz M, Lindblom A, Macrae F, Maglott D, Moslein G, Povey S, Ramesar R, Richards S, Seminara D, Sobrido MJ, Tavtigian S, Taylor G, Vihinen M, Winship I, Cotton RGH, Contributors Human Variome Project. How to Catch All Those Mutations-The Report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010. Human Mutation 2010. Hoboken, New Jersey, USA: John Wiley & Sons, Inc., 31(12), 1374-1381.
• Sieber-Blum M, Clewes O, Loughney AD, Murdoch A. Human Epidermal Neural Crest Stem Cells (hEPI-NCSC). In: FASEB Journal: Experimental Biology 2010 Meeting. 2010, Anaheim, California, USA: Federation of American Societies for Experimental Biology.
• Armstrong L, Tilgner K, Saretzki G, Atkinson SP, Stojkovic M, Moreno R, Przyborski S, Lako M. Human Induced Pluripotent Stem Cell Lines Show Stress Defense Mechanisms and Mitochondrial Regulation Similar to Those of Human Embryonic Stem Cells. Stem Cells 2010, 28(4), 661-673.
• Dreumont N, Bourgeois CF, Lejeune F, Liu Y, Ehrmann IE, Elliott DJ, Stevenin J. Human RBMY regulates germline-specific splicing events by modulating the function of the serine/arginine-rich proteins 9G8 and Tra2-β. Journal of Cell Science 2010, 123(1), 40-50.
• Lehmann R, Luxembourg B, Miesbach W, Suess C, Leus M, Lindhoff-Last E, Zeiher AM, Spyridopoulos I. Idiopathic (unexplained) pulmonary embolism is associated with an impaired prognosis compared to other entities of pulmonary embolism. Blood Coagulation & Fibrinolysis 2010, 21(1), 70-76.
• Johnson SA, Williams JM, Hakobyan S, Richards A, Perkins SJ, Marchbank KJ, Goodship THJ, Morgan BP, Taylor CM, Savage COS. Impact of compound heterozygous complement factor H mutations on development of atypical hemolytic uremic syndrome-A pedigree revisited. Molecular Immunology 2010, 47(7-8), 1585-1591.
• Lako M, Armstrong L, Stojkovic M. Induced Pluripotent Stem Cells : It Looks Simple but Can Looks Deceive?. Stem Cells 2010, 28(5), 845-850.
• Dhomen N, DaRochaDias S, Hayward R, Ogilvie L, Hedley D, Delmas V, Henderson D, Springer CS, Pritchard C, Larue L, Marais R. Inducible expression of V^600EBraf using tyrosinase-driven Cre recombinase results in embryonic lethality. Pigment Cell & Melanoma Research 2010, 23(1), 112-120.
• Mathers J, Strathdee G, Relton C. Induction of Epigenetic Alterations by Dietary and Other Environmental Factors. In: Herceg, Z., Ushijima, T, ed. Advances in Genetics: Epigenetics and Cancer, Part B. Amsterdam; London: Academic Press, 2010, pp.4-39.
• Horvath R, Kemp JP, Tuppen HAL, Hudson G, Pyle A, Holinski-Feder E, Abicht A, Czermin B, Walter MC, Gunther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Lochmuller H, Taylor RW, Chinnery PF. Infantile reversible COX deficiency myopathy caused by the m.14674T > C mutation in mt-tRNA(Glu) in a German family. In: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford, UK: Neuromuscular Disorders, Elsevier.
• Bauer R, Blain A, Greally E, Bushby K, Lochmuller H, Laval S, Straub V, MacGowan GA. Intolerance to beta-blockade in a mouse model of delta-sarcoglycan-deficient muscular dystrophy cardiomyopathy. European Journal of Heart Failure 2010, 12(11), 1163-1170.
• Walter MC, Czemin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmuller H, Chinnery PF, Klopstock T, Horvath R. Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. Journal of Neurology 2010,257 9 1517-1523.
• Lako M, Trounson AO, Daher S, Webster A. Law, Ethics, Religion, and Clinical Translation in the 21st Century-A Discussion with Andrew Webster. Stem Cells 2010. Durham, NC:AlphaMed Press, Inc.,28 11 1915-1917.
• Keavney B. Left, right: A step forward in understanding transposition of the great arteries. Heart 2010, 96(9), 653-655.
• Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Muller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P. LPIN1 Gene Mutations: A Major Cause of Severe Rhabdomyolysis in Early Childhood. Human Mutation 2010, 31(7), E1564-E1573.
• Davin JC, Gracchi V, Bouts A, Groothoff J, Strain L, Goodship T. Maintenance of Kidney Function Following Treatment With Eculizumab and Discontinuation of Plasma Exchange After a Third Kidney Transplant for Atypical Hemolytic Uremic Syndrome Associated With a CFH Mutation. American Journal of Kidney Diseases 2010, 55(4), 708-711.
• Duffy SW, Mackay J, Thomas S, Anderson E, Evans DG, Fielder H, Fox R, Gray J, Gui G, Macmillan D, Moss S, Rogers C, Sainsbury R, Sibbering M, Boggis C, Burn J, Cuzick J, Haward B, Howell A, Mansel R, Cork HM, Robertson J, Patnick J, Pharoah P, Robinson A, Sutton S, Kataoka M, Moyle P, Wallis M, Warren R, Jones EL, Austoker J, Clements A, Watson E, Young K, Allgood P, Duffy P, Gabe R, Roberts L, Warsi I, Caunt J, Brentnall A, Dungey F, Lorincz A, Offman J, Adams M, Affen J, Aldous M, Allen A, Ames A, Audisio R, Ashworth S, Barnes A, Botham P, Brown D, Bullard S, Carpenter R, Chorley W, Christensen D, Coleman C, Coe C, Collier DS, Cooke J, Cooke TG, Crichton R, Crockett S, Dalgliesh D, Davies M, Deacon C, Douglas F, Drummond S, Ebbs S, Edwardson J, Elliott J, Evans S, Farnon C, Ferguson J, Fowler G, Gallegos N, Gaskell C, Gay J, Gilbert F, Thomas KG, Greenhalgh R, Hansell D, Mackean CH, Hartup S, Hayman J, Hill P, Hodgson S, Holcombe S, Hogg M, Hubbard C, Izatt L, Jacobs C, Jmor S, Jobson I, Kanani R, Kent M, Knight K, Lannigan A, Lewis C, MacArthur S, Marano C, Martin L, Matheson D, Maurice A, McClement J, McCarrick J, Miedzybrodska Z, Mortimer C, Moss L, Nejim A, Pallister D, Paterson J, Rai S, Ramm J, Ravisekar O, Read F, Ridley P, Roche N, Rockall L, Rogers M, Rothnie N, Rubin G, Saad Z, Sheppard C, Shere M, Silva ID, Simpson C, Smith D, Stallard S, Schuh KS, Stebbing A, Steel J, Stewart R, Stone M, Strukowska O, Tee E, Taylor A, Teh W, Thompson A, Thompson WD, Thompson WO, Toye R, Turton P, Vishwanath L, Walsh J, Williams M, Williamson J, Wise J, Wise M, Whitford P, Zammit C, FH01 Collaborative Teams. Mammographic surveillance in women younger than 50 years who have a family history of breast cancer: tumour characteristics and projected effect on mortality in the prospective, single-arm, FH01 study. Lancet Oncology 2010, 11(12), 1127-1134.
• Al-Diri B, Hunter A, Steel D, Habib M. Manual measurement of retinal bifurcation features. In: Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). 2010, Buenos Aires, Argentina: IEEE.
• Horvath R, Lochmüller H, Acsadi G. Metabolic stroke in childhood: Diagnostic approach and suggestions for therapy. Journal of Pediatric Neurology 2010, 8(3), 321-332.
• Chinnery PF, Elliott HR, Syed A, Rothwell PM, Oxford Vascular Study. Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study. Lancet Neurology 2010, 9(5), 498-503.
• Hassani A, Horvath R, Chinnery PF. Mitochondrial myopathies: developments in treatment. Current Opinion in Neurology 2010, 23(5), 459-465.
• Santibanez Koref M, Wilson V, Cartwright N, Cunnington MS, Mathers JC, Bishop DT, Curtis A, Dunlop MG, Burn J. MLH1 Differential Allelic Expression in Mutation Carriers and Controls. Annals of Human Genetics 2010,74 6 479-488.
• Cunnington MS, Koref MS, Mayosi B, Burn J, Keavney B. Modulation of Anril Expression May Mediate the Association Between Chromosome 9P21 Variants and Coronary Atherosclerosis Risk. In: Annual Conference and Exhibition of the British Cardiovascular Society. 2010, Manchester: Heart, BMJ Publushing Group.
• Cunnington M, Koref MS, Mayosi B, Burn J, Keavney B. Modulation of anril expression may mediate the association of chromosome 9P21 variants with coronary artery disease and stroke. In: 78th Congress of the European Atherosclerosis Society. 2010, Hamburg, Germany: Atherosclerosis Supplements, Elsevier.
• Guglieri M, Bushby K. Molecular treatments in Duchenne muscular dystrophy. Current Opinion in Pharmacology 2010, 10(3), 331-337.
• Yu Wai Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010, 133, 771-786.
• Chinnery P, Jackson M, Amati-Bonneau P, Yu-Wai-Man P, Gorman G, Duffey P, Baker M, Zeviani M, Horvath R, Miller J. Mutations in OPA1 expand the clinical phenotype of mitochondrial disease. In: Journal of Neurology, Neurosurgery and Psychiatry: Annual Meeting of the Association of British Neurologists. 2010, Bournemouth, UK: BMJ Group.
• Loirat C, Macher MA, Elmaleh-Berges M, Kwon T, Deschenes G, Goodship THJ, Majoie C, Davin JC, Blanc R, Savatovsky J, Moret J, Fremeaux-Bacchi V. Non-atheromatous arterial stenoses in atypical haemolytic uraemic syndrome associated with complement dysregulation. Nephrology, Dialysis, Transplantation 2010,25 10 3421-3425.
• Collie AMB, Landsverk ML, Ruzzo E, Mefford HC, Buysse K, Adkins JR, Knutzen DM, Barnett K, Brown RH, Parry GJ, Yum SW, Simpson DA, Olney RK, Chinnery PF, Eichler EE, Chance PF, Hannibal MC. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. Journal of Medical Genetics 2010, 47(9), 601-607.
• Bushby K, Straub V. One gene, one or many diseases?: Simplifying dysferlinopathy. Neurology 2010, 75(4), 298-299.
• Chinnery PF. OPA1 codes for a mitochondrial fusion protein found on the inner mitochondrial membrane. In: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford: Neuromuscular Disorders, Elsevier.
• Yu Wai Man P, Stewart JD, Hudson G, Andrews RM, Griffiths PG, Birch MK, Chinnery PF. OPA1 increases the risk of normal but not high tension glaucoma. Journal of Medical Genetics 2010, 47(2), 120-125.
• Yu-Wai-Man P, Sitarz KS, Samuels DC, Griffiths PG, Reeve AK, Bindoff LA, Horvath R, Chinnery PF. OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Human Molecular Genetics 2010, 19(15), 3043-3052.
• Yang CB, Atkinson SP, Vilella F, Lloret M, Armstrong L, Mann DA, Lako M. Opposing Putative Roles for Canonical and Noncanonical NF kappa B Signaling on the Survival, Proliferation, and Differentiation Potential of Human Embryonic Stem Cells. Stem Cells 2010, 28(11), 1970-1980.
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• Stewart JD, Horvath R, Baruffini E, Ferrero I, Bulst S, Watkins PB, Fontana RJ, Day CP, Chinnery PF. Polymerase gamma Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity. Hepatology 2010, 52(5), 1791-1796.
• Tilgner K, Armstrong L, Lako M. Positive effect of human ESC conditioned medium on somatic cell reprogramming. Serbian Journal of Experimental and Clinical Research 2010, 11(1), 3-5.
• Wonnapinij P, Chinnery PF, Samuels DC. Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and Humans. American Journal of Human Genetics 2010, 86(4), 540-550.
• Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, Murdoch AP, Chinnery PF, Taylor RW, Lightowlers RN, Herbert M, Turnbull DM. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature 2010, 465(7294), 82-85.
• Goodship THJ, Kavanagh D. Pulling the Trigger in Atypical Hemolytic Uremic Syndrome: The Role of Pregnancy. Journal of the American Society of Nephrology 2010. Washington, D.C.: 1533-3450, 21(5), 731-732.
• Aminzadeh M, Kim H, Layman L, Cheetham T. Rarer syndromes characterized by hypogonadotropic hypogonadism. Frontiers of Hormone Research 2010, 39, 154-167.
• Samuels DC, Wonnapinij P, Cree LM, Chinnery PF. Reassessing evidence for a postnatal mitochondrial genetic bottleneck. Nature Genetics 2010. 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA: NATURE PUBLISHING GROUP, 42(6), 471-472.
• Clarke N, Waddell L, Cooper S, Perry M, Smith R, Kornberg A, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King M, Farrell M, Marty I, Lunardi J, Monnier N, North K. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Human Mutation 2010, 31(7), E1544-E1550.
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• Fuchs A, Inthal A, Herrmann D, Cheng S, Nakatomi M, Peters H, Neubüser A. Regulation of Tbx22 during facial and palatal development. Developmental Dynamics 2010, 239(11), 2860-2874.
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• Hughes A, Orr N, Cordell H, Goodship T. Reply to “Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent”. Nature Genetics 2010, 42(7), 555-556.
• Samuels D, Chinnery P. Reply to Lee and Sawcer. Trends in Genetics 2010, 26(6), 242-243.
• Fraser S, Steel D. Retinal detachment. Clinical Evidence 2010, (article 0710).
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• Sellier C, Rau F, Liu YL, Tassone F, Hukema RK, Gattoni R, Schneider A, Richard S, Willemsen R, Elliott DJ, Hagerman PJ, Charlet-Berguerand N. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO Journal 2010, 29(7), 1248-1261.
• Shawcross J, Sayer J. Secondary hyperparathyroidism in a poorly compliant patient. QJM 2010, 103(2), 125.
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• Botha P, MacGowan GA, Dark JH. Sildenafil Citrate Augments Myocardial Protection in Heart Transplantation. Transplantation 2010, 89(2), 169-177.
• Ayers K, Cordell H. SNP Selection in genome-wide and candidate gene studies via penalized logistic regression. Genetic Epidemiology 2010, 34(8), 879-891.
• Yu Wai Man P, Lai-Cheong J, Borthwick GM, He LP, Taylor GA, Greaves LC, Taylor RW, Griffiths PG, Turnbull DM. Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles. Investigative Ophthalmology & Visual Science 2010, 51(7), 3347-3353.
• Nilsson J, Ali S, Harvey I, Kirby J, Meeson A. Stem cell therapy: a role for CXCR4 in homing bone marrow side population cells to areas of myocardial damage. International Journal of Cardiology 2010. , epub ahead of print. In Press.
• Razvi S, Weaver JU, Pearce SHS. Subclinical thyroid disorders: significance and clinical impact. Journal of Clinical Pathology 2010, 63(5), 379-386.
• Steel DH, Sandhu SS. Submacular haemorrhages associated with neovascular age-related macular degeneration. British Journal of Ophthalmology 2010, (epub ahead of print).
• Wang WZ, Hoerder-Suabedissen A, Oeschger FM, Bayatti N, Ip BK, Lindsay S, Supramaniam V, Srinivasan L, Rutherford M, Mollgard K, Clowry GJ, Molnar Z. Subplate in the developing cortex of mouse and human. Journal of Anatomy 2010, 217(4), 368-380.
• Kolli S, Ahmad S, Lako M, Figueiredo F. Successful Clinical Implementation of Corneal Epithelial Stem Cell Therapy for Treatment of Unilateral Limbal Stem Cell Deficiency. Stem Cells 2010, 28(3), 597-610.
• Haller W, Milford DV, Goodship THJ, Sharif K, Mirza DF, McKiernan PJ. Successful Isolated Liver Transplantation in a Child with Atypical Hemolytic Uremic Syndrome and a Mutation in Complement Factor H. American Journal of Transplantation 2010, 10(9), 2142-2147.
• Waters AM, Pappworth I, Marchbank K, Bockenhauer D, Tullus K, Pickering MC, Strain L, Sebire N, Shroff R, Marks SD, Goodship THJ, Rees L. Successful Renal Transplantation in Factor H Autoantibody Associated HUS with CFHR1 and 3 Deficiency and CFH Variant G2850T. American Journal of Transplantation 2010, 10(1), 168-172.
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• Griffin HR, Topf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA. Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart 2010,96 20 1651-1655.
• Lebrin F, Srun S, Raymond K, Martin S, van den Brink S, Freitas C, Breant C, Mathivet T, Larrivee B, Thomas JL, Arthur HM, Westermann CJJ, Disch F, Mager JJ, Snijder RJ, Eichmann A, Mummery CL. Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. Nature Medicine 2010, 16(4), 420-U101.
• Macfarlane TV, Macfarlane GJ, Oliver RJ, Benhamou S, Bouchardy C, Ahrens W, Pohlabeln H, Lagiou P, Lagiou A, Castellsague X, Agudo A, Merletti F, Richiardi L, Kjaerheim K, Slamova A, Schejbalova M, Canova C, Simonato L, Talamini R, Barzan L, Conway DI, McKinney PA, Znaor A, Lowry RJ, Thomson PJ, Healy CM, McCartan BE, Marron M, Hashibe M, Brennan P. The aetiology of upper aerodigestive tract cancers among young adults in Europe: the ARCAGE study. Cancer Causes & Control 2010, 21(12), 2213-2221.
• Chinnery PF. The age of single-gene neurological disorders is not dead. Brain 2010. Oxford, UK: Oxford University Press, 133(7), 1865-1868.
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• Cooper FE, Grube M, Elsegood KJ, Welch JL, Kelly TR, Chinnery PF, Griffiths TD. The contribution of the cerebellum to cognition in Spinocerebellar Ataxia Type 6. Behavioural Neurology 2010, 23(1-2), 3-15.
• Kerwin J, Yang YY, Merchan P, Sarma S, Thompson J, Wang XX, Sandoval J, Puelles L, Baldock R, Lindsay S. The HUDSEN Atlas: a three-dimensional (3D) spatial framework for studying gene expression in the developing human brain. Journal of Anatomy 2010, 217(4), 289-299.
• Razvi S, Weaver JU, Vanderpump MP, Pearce SHS. The Incidence of Ischemic Heart Disease and Mortality in People with Subclinical Hypothyroidism: Reanalysis of the Whickham Survey Cohort. Journal of Clinical Endocrinology and Metabolism 2010, 95(4), 1734-1740.
• Keavney B. The interleukin-1 cluster, dyslipidaemia and risk of myocardial infarction. BMC Medicine 2010. ,8 1 6.
• Sayer J, Moochhala S, Thomas D. The medical management of urolithiasis. British Journal of Medical and Surgical Urology 2010, 3(3), 87-95.
• Alston CL, Bender A, Hargreaves IP, Mundy H, Deshpande C, Klopstock T, McFarland R, Horvath R, Taylor RW. The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype. Neuromuscular Disorders 2010, 20(6), 403-406.
• Yu-Wai-Man P, Griffiths PG, Burke A, Sellar PW, Clarke MP, Gnanaraj L, Ah-Kine D, Hudson G, Czermin B, Taylor RW, Horvath R, Chinnery PF. The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations. Ophthalmology 2010, 117(8), 1538-U103.
• Alfakir A, Dawe N, Eyre R, Tyson-Capper A, Britton K, Robson SC, Meeson AP. The temporal and spatial expression patterns of ABCG2 in the developing human heart. International Journal of Cardiology 2010, (epub ahead of print).
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• Kavanagh D, Richards A, Goodship T, Jalanko H. Transplantation in Atypical Hemolytic Uremic Syndrome. Seminars in Thrombosis and Hemostasis 2010,36 6 653-659.
• Bento D, Mapril J, Rocha C, Marchbank KJ, Kavanagh D, Barge D, Strain L, Goodship THJ, Meneses-Oliveira C. Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1). Renal Failure 2010,32 6 753-756.
• Hudson G, Yu-Wai-Man P, Griffiths PG, Caporali L, Salomao SS, Berezovsky A, Carelli V, Zeviani M, Chinnery PF. Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. Molecular Vision 2010, 16, 2760-2764.
• Man CY, Steel D. Visual outcome after open globe injury: a comparison of two prognostic models--the Ocular Trauma Score and the Classification and Regression Tree. Eye 2010, 24(1), 84-89.
• Nicholas A, Khurshid M, Désir J, Carvalho O, Cox J, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson J, Lindsay S, Gergely F, Dobyns W, Roberts E, Abramowicz M, Woods C. WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nature Genetics 2010, 42(11), 1010-1014.
• Neeve VCM, Van den Bosch B, Van Goethem G, Bindoff L, Smeets B, Lombes A, Hirano M, DiMauro S, De Vries M, Smeitink J, Czermin B, Holinski-Feder E, Hudson G, Turnbull DM, Taylor RW, Chinnery PF, Horvath R. What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?. In: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford: Neuromuscular Disorders, Elsevier.
• Cordell HJ, Darlay R, Charoen P, Stewart A, Gullett AM, Lambert HJ, Malcolm S, Feather SA, Goodship THJ, Woolf AS, Kenda RB, Goodship JA, UK VUR Study Grp. Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux. Journal of the American Society of Nephrology 2010, 21(1), 113-123.
• Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Muller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, De Keyzer Y, De Lonlay P. [abstract] LPIN1 gene mutations: A major cause of severe rhabdomyolysis in early childhood. Journal of Inherited Metabolic Disease 2010, 33(s1), S56.
• Pearson JP, Kilarski LL, Newsway V, Majounie E, Perera D, Misbahuddin A, Chinnery PF, Burn DJ, Lewthwaite AJ, Clarke CE, Morrison KE, Evans JR, Sawcer SJ, Barker RA, Wickremaratchi MM, Williams NM, Morris HR. [Meeting Abstract] Prevalence of Mutations in Parkin, PINK1, and DJ-1 in Early Onset Parkinson's Disease - A Community Based and Regional Study. Movement Disorders 2010, 25(s3), S610.