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

• Borras S, Bromley D, Scully P, Coxhead JM, Spiden S, Short J, Robinson J, Huntley D, Curtis A, Taylor R. 'Noonan Spectrum Test' - comprehensive screening for RASopathies. In: European Human Genetics Conference 2012. 2012, Nürnberg, Germany: Nature Publishing Group.
• Jaiser S, Fisher KM, Zaaimi B, Seow H, Miller JAL, Chinnery PF, Williams TL, Baker SN, Baker MR. 15-30 HZ Intermuscular Coherence as a Potential Biomarker of Upper Motor Neuron Dysfunction in Motor Neuron Disease. In: Annual Meeting of the Association of British Neurologists 2011. 2012, Gateshead, UK: B M J Group.
• Richardson GD, Meeson AP, Laval SH, Fuller A, Owens WA. mTert Expression is Increased in the mdx Model of Cardiomyopathy. In: BSCR. Novel Insights into the Pathogenesis of Cardiac Remodelling. 2012, Queens University Belfast.
• Sitarz KS, Almind GJ, Horvath R, Czermin B, Grønskov K, Pyle A, Taylor RW, Larsen M, Chinnery PF, Yu Wai Man P. OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy. Neurology 2012, 79(14), 1515-1517.
• Goodship JA, Hall D, Topf A, Mamasoula C, Griffin H, Rahman TJ, Glen E, Tan H, Doza JP, Relton CL, Bentham J, Bhattacharya S, Cosgrove C, Brook D, Granados-Riveron J, Bu'Lock FA, O'Sullivan J, Stuart AG, Parsons J, Cordell HJ, Keavney B. A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot. Circulation: Cardiovascular Genetics 2012, 5(3), 287-292.
• Adams M, Simms RJ, Abdelhamed Z, Dawe HR, Szymanska K, Logan CV, Wheway G, Pitt E, Gull K, Knowles MA, Blair E, Cross SH, Sayer JA, Johnson CA. A meckelinfilamin A interaction mediates ciliogenesis. HUMAN MOLECULAR GENETICS 2012, 21(6), 1272-1286.
• Neeve VCM, Pyle A, Holinski-Feder E, Griffin H, Ashok D, Foley C, Hudson G, Rautensstrauss B, Lochmuller H, Santibanez-Koref M, Chinnery PF, Horvath R. A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Horvath R, Holinski Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bäßmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez Koref M, Chinnery PF. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Movement Disorders 2012, 76(6), 789-793.
• Suleman F, Gualeni B, Gregson HJ, Leighton MP, Piróg KA, Edwards S, Holden P, Boot-Handford RP, Briggs MD. A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. Human Mutation 2012, 33(1), 218-231.
• Hyslop L, Prathalingam N, Nowak L, Fenwick J, Harbottle S, Byerley S, Rhodes J, Watson B, Henderson R, Murdoch A, Herbert M. A Novel Isolator-Based System Promotes Viability of Human Embryos during Laboratory Processing. PLoS ONE 2012, 7(2), e31010.
• Yarham JW, McFarland R, Taylor RW, Elson JL. A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations. Mitochondrion 2012, 12(5), 533-538.
• Yarham JW, Elson JL, Taylor RW, McFarland R. A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Atkinson SP, Collin J, Irina N, Anyfantis G, Kyung BK, Lako M, Armstrong L. A Putative Role for the Immunoproteasome in the Maintenance of Pluripotency in Human Embryonic Stem Cells. Stem Cells 2012, 30(7), 1373-1384.
• Chaouch A, Muller JS, Guergueltcheva V, Dusl M, Schara U, Rakocevic-Stojanovic V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmuller H. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. Journal of Neurology 2012, 259(3), 474-481.
• Chaouch A, Muller JS, Guergueltcheva V, Dusl M, Schara U, Rakocevic-Stojanovic V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmuller H. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Pearce SHS, Mitchell AL, Bennett S, King P, Chandran S, Nag S, Chen S, Smith BR, Isaacs JD, Vaidya B. Adrenal Steroidogenesis after B Lymphocyte Depletion Therapy in New-Onset Addison's Disease. Journal of Clinical Endocrinology and Metabolism 2012, 97(10), E1927-E1932.
• Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmuller H, Holinski-Feder E, Taylor RW, Chinnery PF. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. Journal of Neurology, Neurosurgery and Psychiatry 2012, 83(2), 174-178.
• Horvath PO, Czermin B, Gulati S, Pyle A, Hassani A, Foley C, Taylor RW, Chinnery PF. Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene. In: Journal of Neurology, Neurosurgery and Psychiatry: Association of British Neurologists Annual Meeting. 2012, Gateshead, UK: BMJ Group.
• Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations. Journal of Neurology, Neurosurgery and Psychiatry 2012, 83(9), 883-886.
• Pitceathly RDS, Smith C, Fratter C, Alston CL, He LP, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain 2012, 135(11), 3392-3403.
• Mamasoula C, Pierscionek T, Hall D, Topf A, Doza JP, Rahman T, Tan A, Bentham J, Bhattacharya S, Cosgrove C, Brook D, Riveron JG, Bu'Lock FA, O'Sullivan J, Wren C, Goodship JA, Cordell HJ, Keavney B. Aetiological Role Of Folate Deficiency In Congenital Cardiovascular Malformation: Evidence From "Mendelian Randomisation" And Meta-Analysis. In: 20th Annual Meeting of the International Genetic Epidemiology Society (IGES). 2012, Heidelberg, Germany: John Wiley & Sons, Inc.
• Proctor CJ, Pienaar IS, Elson JL, Kirkwood TBL. Aggregation, impaired degradation and immunization targeting of amyloid-beta dimers in Alzheimer's disease: A stochastic modelling approach. Molecular Neurodegeneration 2012, 7(1), 32.
• Ratnayake M, Reynard LN, Raine EV, Santibanez-Koref M, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3. In: World Congress on Osteoarthritis. 2012, Barcelona, Spain: Elsevier Ltd.
• Ratnayake M, Reynard LN, Raine EVA, Santibanez-Koref M, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3. BMC Medical Genetics 2012, 13(1), 12.
• Stefanija MA, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF, Pitteloud N. An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics 2012, 21(19), 4314-4324.
• Ratnavake M, Ploger F, Santibanez-Koref M, Loughlin J. An investigation of the effect of exogenous growth factor GDF5 on primary OA chondrocytes - is there a predictable response?. In: World Congress on Osteoarthritis. 2012, Barcelona, Spain: Elsevier Ltd.
• Watkins SJ, Borthwick GM, Oakenfull R, Robson A, Arthur HM. Angiotensin II-induced cardiomyocyte hypertrophy in vitro is TAK1-dependent and Smad2/3-independent. Hypertension Research 2012, 35(4), 393-398.
• Blain A, Greally E, Laval S, Blamire A, MacGowan G, Straub V. Animal Models of Duchenne Muscular Dystrophy, with Special Reference to the mdx Mouse. Biocybernetics and Biomedical Engineering 2012, 32(4), 3-15.
• Korkmaz C, Sayer JA. ANKH and Renal Stone Formation in Ankylosing Spondylitis. Journal of Rheumatology 2012, 39(8), 1756-1757.
• Boczonadi V, Määttä A. Annexin A9 is a periplakin interacting partner in membrane-targeted cytoskeletal linker protein complexes. FEBS Letters 2012, 19(586), 3090-3096.
• Francis NJ, McNicholas B, Awan A, Waldron M, Reddan D, Sadlier D, Kavanagh D, Strain L, Marchbank KJ, Harris CL, Goodship THJ. Anovel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. Blood 2012, 119(2), 591-601.
• Payne BAI, Pfeffer G, Price DA, Chinnery PF. Anti-retroviral exposure and somatic mitochondrial DNA mutations. In: Journal of Neurology, Neurosurgery and Psychiatry: Association of British Neurologists Annual Meeting. 2012, Gateshead, UK: BMJ Group.
• Helgadottir A, Gretarsdottir S, Thorleifsson G, Holm H, Patel RS, Gudnason T, Jones GT, van Rij AM, Eapen DJ, Baas AF, Tregouet DA, Morange PE, Emmerich J, Lindblad B, Gottsater A, Kiemeny LA, Lindholt JS, Sakalihasan N, Ferrell RE, Carey DJ, Elmore JR, Tsao PS, Grarup N, Jorgensen T, Witte DR, Hansen T, Pedersen O, Pola R, Gaetani E, Magnadottir HB, Wijmenga C, Tromp G, Ronkainen A, Ruigrok YM, Blankensteijn JD, Mueller T, Wells PS, Corral J, Soria JM, Souto JC, Peden JF, Jalilzadeh S, Mayosi BM, Keavney B, Strawbridge RJ, Sabater-Lleal M, Gertow K, Baldassarre D, Nyyssonen K, Rauramaa R, Smit AJ, Mannarino E, Giral P, Tremoli E, de Faire U, Humphries SE, Hamsten A, Haraldsdottir V, Olafsson I, Magnusson MK, Samani NJ, Levey AI, Markus HS, Kostulas K, Dichgans M, Berger K, Kuhlenbaumer G, Ringelstein EB, Stoll M, Seedorf U, Rothwell PM, Powell JT, Kuivaniemi H, Onundarson PT, Valdimarsson E, Matthiasson SE, Gudbjartsson DF, Thorgeirsson G, Quyyumi AA, Watkins H, Farrall M, Thorsteinsdottir U, Stefansson K. Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous Thromboembolism. Journal of the American College of Cardiology 2012, 60(8), 722-729.
• Wilson IJ. Approximate Likelihood Methods for SNP data with Genetic Correlations. 2012. In Preparation.
• Chan AT, Arber N, Burn J, Chia WK, Elwood P, Hull MA, Logan RF, Rothwell PM, Schror K, Baron JA. Aspirin in the Chemoprevention of Colorectal Neoplasia: An Overview. Cancer Prevention Research 2012, 5(2), 164-178.
• Gerrelli D, Suren S, Morrison V, Cheng Y, Overman L, Crosier M, Lisgo S, Lindsay S, Copp AJ. Assisting research into human embryonic and fetal development. In: 23rd Mammalian Genetics and Development Workshop of the Genetics Society. 2012, London: Cambridge University Press.
• Munafo MR, Timofeeva MN, Morris RW, Prieto-Merino D, Sattar N, Brennan P, Johnstone EC, Relton C, Johnson PCD, Walther D, Whincup PH, Casas JP, Uhl GR, Vineis P, Padmanabhan S, Jefferis BJ, Amuzu A, Riboli E, Upton MN, Aveyard P, Ebrahim S, Hingorani AD, Watt G, Palmer TM, Timpson NJ, Smith GD, EPIC Study Grp. Association Between Genetic Variants on Chromosome 15q25 Locus and Objective Measures of Tobacco Exposure. Journal of the National Cancer Institute 2012, 104(10), 740-748.
• Mitchell AL, Pearce SHS. Autoimmune Addison disease: pathophysiology and genetic complexity. Nature Reviews Endocrinology 2012, 8(5), 306-316.
• Hambleton S, McDonald DO, Morgan NV, Griffin H, Singh-Dang T, Grainger A, Reynard L, Gennery AR, Slatter M, Flood TJ, McKiernan P, Barge D, Abinun M, Hackett S, Loughlin J, Lakey J, Cant AJ, Santibanez-Koref M. Autosomal recessive combines immunodeficiency due to loss of function mutation in Tripeptidyl Peptidase II. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
• Barresi R, De Waele L, Henderson M, Hudson J, Horrocks I, Longman C, Bushby K. Autosomal recessive desminopathy with desmin-null mutations presenting in childhood. In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
• Pyle A, Horvath R, Chinnery PF. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing Reply. Archives of Neurology 2012, 69(12), 1661-1662.
• Houseman M, Potter C, Marshall N, Lakey R, Cawston T, Griffiths I, Young-Min S, Isaacs JD. Baseline serum MMP-3 levels in patients with Rheumatoid Arthritis are still independently predictive of radiographic progression in a longitudinal observational cohort at 8 years follow up. Arthritis Research & Therapy 2012, 14(1), R30.
• Wood A, Cumine AP, Muller J, Laval SH, Bushby K, Lochmuller H, Barresi R, Straub V. Basement membrane pathology associated with FKRP and fukutin deficiency in zebrafish. In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
• Blain A, Greally E, MacGowan G, Laval S, Blamire A, Gillender K, Lochmuller H, Bushby K, Straub V. Beta-blocker/ACE-inhibitor combination treatment in mdx mice. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy. In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
• Turcot V, Groom A, McConnell JC, Pearce MS, Potter C, Embleton ND, Swan DC, Relton CL. Bioinformatic selection of putative epigenetically regulated loci associated with obesity using gene expression data. Gene 2012, 499(1), 99-107.
• Lamb CA, O'Boyle G, Jones DE, Mansfield JC, Kirby JA. Blockade of the B7 integrin prevents adherence of t lymphocytes to MAdCAM-1 in an in vitro model of vascular microcirculation post-capillary shear flow. In: Digestive Disorders Federation Meeting. 2012, Liverpool, UK: BMJ Group.
• Britton KM, Eyre R, Harvey IJ, Stemke-Hale K, Browell D, Lennard TWJ, Meeson AP. Breast cancer, side population cells and ABCG2 expression. Cancer Letters 2012, 323(1), 97-105.
• Chiu IS, Anderson RH. Can We Better Understand the Known Variations in Coronary Arterial Anatomy?. Annals of Thoracic Surgery 2012, 94(5), 1751-1760.
• Collerton J, Yousaf F, Kingston A, Kenny A, Davies K, Robinson L, Kirkwood T, Keavney B. Cardiac dysfunction among the community dwelling very old. In: GSA 65th Annual Scientific Meeting. 2012, San Diego, California, USA: Oxford University Press.
• Willis TA, Hollingsworth KG, Dixon BJ, MacGowan GA, Blamire AM, Straub V. Cardiac MRI in LGMD2I patients. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Hollingsworth KG, Macgowan GA, Morris L, Bates MG, Taylor R, Jones DE, Newton JL, Blamire AM. Cardiac torsion-strain relationships in fatigued primary biliary cirrhosis patients show accelerated aging: a pilot cross-sectional study. Journal of Applied Physiology 2012, 112(12), 2043-2048.
• Chaudhry B, Burns D, Henderson DJ. Cardiomyocyte aging: swimming against the clock. In: 2nd Congress of the European Society of Cardiology Council on Basic Cardiovascular Science: Frontiers in Cardiovascular Biology. 2012, London, UK: Oxford University Press.
• Hollingsworth KG, Gorman GS, Trenell MI, McFarland R, Taylor RW, Turnbull DM, Macgowan GA, Blamire AM, Chinnery PF. Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load. Neuromuscular Disorders 2012, 22(7), 592-596.
• van der Walt EM, Smuts I, Taylor RW, Elson JL, Turnbull DM, Louw R, van der Westhuizen FH. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. European Journal of Human Genetics 2012, 20, 650-656.
• Foley C, Schofield I, Eglon G, Bailey G, Chinnery PF, Horvath R. Charcot-Marie-Tooth disease in Northern England. Journal of Neurology, Neurosurgery and Psychiatry 2012, 83(5), 573-574.
• Tual-Chalot S, Fatoumata K, Priou P, Trzepizur W, Gaceb A, Contreras C, Prieto D, Martinez MC, Gagnadoux F, Andriantsitohaina R. Circulating microparticles from patients with obstructive sleep apnea enhance vascular contraction: mandatory role of the endothelium. American Journal of Pathology 2012, 181(4), 1473-1482.
• Hartley AE, Edwards N, Khan F, Playford M, Thomas DJ, Sayer JA. Clinical analysis of a north-east England cystinuria cohort. In: 30th World Congress of Endourology & SWL. 2012, Istanbul, Turkey: Mary Ann Liebert, Inc. Publishers.
• Klein A, Lillis S, Munteanu I, Scoto M, Zhou HY, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012). Human Mutation 2012, 33(8), 1310-1310.
• Wright MJ, Irving MD. Clinical management of achondroplasia. Archives of Disease in Childhood 2012, 97(2), 129-134.
• Maddison J, Straub V, Lochmuller H, Turnbull D, Chinnery P, Trennell M, McFarland R, Gorman G, Horvath R, Busbhy K. Clinical research activity in Newcastle MRC centre. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Ermini L, Goodship THJ, Strain L, Weale ME, Sacks SH, Cordell HJ, Fremeaux-Bacchi V, Sheerin NS. Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS. Molecular Immunology 2012, 49(4), 640-648.
• Quinton R. Communication skills & overseas medical graduates. Journal of the Royal Society of Medicine 2012, 105(6), 232-232.
• Greaves LC, Elson JL, Nooteboom M, Grady JP, Taylor GA, Taylor RW, Mathers JC, Kirkwood TBL, Turnbull DM. Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations. PLoS Genetics 2012, 8(11), e1003082.
• Xu Y, Barter MJ, Swan DC, Rankin KS, Rowan AD, Santibanez-Koref M, Lo Ighlin J, Young DA. Comparison of osteoarthritis and normal hip cartilage transcriptomes using RNA-seq reveals new candidate gene targets and associated pathways. In: World Congress on Osteoarthritis. 2012, Barcelona, Spain: Elsevier Ltd.
• Ermini L, Wilson IJ, Goodship THJ, Sheerin NS. Complement polymorphisms: Geographical distribution and relevance to disease. Immunobiology 2012, 217(2), 265-271.
• Bates MGD, Hollingsworth KG, Newman J, Jakovljevic DG, Keavney BD, Blamire AM, MacGowan GA, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. In: Annual Conference of the British Cardiovascular Society (BCS). 2012, Manchester, UK: BMJ Group.
• Henderson DJ, Boczonadi V, Humbert P, Chaudhry B. Conditional deletion of Scrib gene in the developing myocardium leads to congenital heart defects. In: 2nd Congress of the European Society of Cardiology Council on Basic Cardiovascular Science: Frontiers in Cardiovascular Biology. 2012, London, UK: Oxford University Press.
• Guergueltcheva V, Muller J, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera C, Nascimento A, Vilchez J, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb J, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein O, Najafi A, Urtizberea A, Soler D, Muntoni F, Hanna M, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmuller H. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. Journal of Neurology 2012, 259(5), 838-850.
• Abicht A, Dusl M, Gallenmuller C, Guergueltcheva V, Schara U, Della Marina A, Wibbeler E, Almaras S, Mihaylova V, von der Hagen M, Huebner A, Chaouch A, Muller JS, Lochmuller H. Congenital Myasthenic Syndromes: Achievements and Limitations of Phenotype-Guided Gene-After-Gene Sequencing in Diagnostic Practice: A Study of 680 Patients. Human Mutation 2012, 33(10), 1474-1484.
• Soemedi R, Wilson IJ, Bentham J, Darlay R, Topf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease. American Journal of Human Genetics 2012, 91(3), 489-501.
• Keogh MJ, Chinnery PF. Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation. Seminars in Pediatric Neurology 2012, 19(2), 51-56.
• Iglesias E, Llobet L, Pacheu-Grau D, Gómez-Durán A, Ruiz-Pesini E. Cybrids for Mitochondrial DNA Pharmacogenomics. Drug Development Research 2012, 73(8), 453-460.
• Anderson RH. Demolishing the Tower of Babel. European Journal of Cardio-Thoracic Surgery 2012, 41(3), 483-484.
• Liu JZ, Almarri MA, Gaffney DJ, Mells GF, Jostins L, Cordell HJ, Ducker SJ, Day DB, Heneghan MA, Neuberger JM, Donaldson PT, Bathgate AJ, Burroughs A, Davies MH, Jones DE, Alexander GJ, Barrett JC, Sandford RN, Anderson CA, UK Primary Biliary Cirrhosis PBC C, Wellcome Trust Case Control Consor. Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. Nature Genetics 2012, 44(10), 1137-1141.
• Siler U, Jiang Y, Cowley SA, Melguzo D, Tilgner K, Browne C, deWilton A, Pryzborski S, Saretzki G, James WS, Seger RA, Reichenbach J, Lako M, Armstrong L. Derivation and functional analysis of patient specific induced pluripotent stem cells (IPSCS) as an in vitro model of chronic granulomatous disease. In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
• Siler U, Jiang Y, Cowley SA, Melguzo D, Tilgner K, Browne C, Dewilton A, Pryzborski S, Saretzki G, James WS, Seger RA, Reichenbach J, Lako M, Armstrong L. Derivation and Functional Analysis of Patient Specific Induced Pluripotent Stem Cells as an In Vitro Model of Chronic Granulomatous Disease. In: 15th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT). 2012, Philadelphia, Pennsylvania, USA: Nature Publishing Group.
• Bell E, Richardson G, Jahoda CA, Gledhill K, Phillips HM, Henderson D, Owens WA, Hole N. Dermal stem cells can differentiate down an endothelial lineage. Stem Cells and Development 2012, 21(16), 3019-3030.
• Sitarz KS, Chinnery PF, Yu-Wai-Man P. Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets. Current Neurology and Neuroscience Reports 2012, 12(3), 308-317.
• Cooper FE, Grube M, Von Kriegstein K, Kumar S, English P, Kelly TP, Chinnery PF, Griffiths TD. Distinct critical cerebellar subregions for components of verbal working memory. Neuropsychologia 2012, 50(1), 189-197.
• Relton CL, Groom A, StPourcain B, Sayers AE, Swan DC, Embleton ND, Pearce MS, Ring SM, Northstone K, Tobias JH, Trakalo J, Ness AR, Shaheen SO, Davey-Smith G. DNA methylation patterns in cord blood DNA and body size in childhood. PLoS One 2012, 7(3), e31821.
• Krishnan KJ, Nelson G, Romero NB, Ratnaike T, Blakely EL, Ziyadeh-Isleem A, Miller J, Murphy JL, Horvath R, Lochmuller H, Flanigan K, Turnbull DM, Guicheney P, Bitoun M, Taylor RW. DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance. In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
• Burn J, Mathers JC, Bishop DT. Does aspirin really reduce the risk of colon cancer? Reply. Lancet 2012, 379(9826), 1587-1587.
• Yu-Wai-Man P, Chinnery PF. Dysfunctional mitochondrial maintenance: what breaks the circle of life?. Brain 2012, 135(1), 9-11.
• Hunt NC, Batsivari A, Chaudhry B, Henderson DJ. ECM control of neural crest cell (NCC) behaviour and implications for heart development. In: Autumn Meeting of the British Society for Matrix Biology (BSMB). 2012, Newcastle upon Tyne, UK: Wiley-Blackwell Publishing Ltd.
• Mellough CB, Sernagor E, Moreno-Gimeno I, Steel DH, Lako M. Efficient Stage-Specific Differentiation of Human Pluripotent Stem Cells Toward Retinal Photoreceptor Cells. Stem Cells 2012, 30(4), 673-686.
• Choudhary M, Nesbitt M, Burgess L, Hyslop L, Herbert M, Murdoch A. Egg Sharing for Research: A Successful Outcome for Patients and Researchers. Cell Stem Cell 2012, 10(3), 239-240.
• Howey R, Cordell HJ. EMIM: Estimation Of Maternal, Imprinting And Interaction Effects Using Multinomial Modelling. In: 20th Annual Meeting of the International Genetic Epidemiology Society (IGES). 2012, Heidelberg, Germany: John Wiley & Sons, Inc.
• Allinson KR, Lee HS, Fruttiger M, McCarty J, Arthur HM. Endothelial Expression of TGF beta Type II Receptor Is Required to Maintain Vascular Integrity during Postnatal Development of the Central Nervous System. PLoS One 2012, 7(6), e39336.
• Armstrong L. Epigenetic Control of Embryonic Stem Cell Differentiation. Stem Cell Reviews and Reports 2012, 8(1), 67-77.
• Potter C, Relton CL. Epigenetic Epidemiology. Karin B. Michels (ed). International Journal of Epidemiology 2012, 41(1), 308-309.
• Chinnery PF, Elliott HR, Hudson G, Samuels DC, Relton CL. Epigenetics, epidemiology and mitochondrial DNA diseases. International Journal of Epidemiology 2012, 41(1), 177-187.
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