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

• 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.
• MacDonald ST, Bamforth SD, Bragança J, Chen C-M, Broadbent C, Schneider JE, Schwartz R, Bhattacharya S. A cell-autonomous role of Cited2 in controlling myocardial and coronary vascular development. European Heart Journal 2012, (epub ahead of print).
• 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.
• Hyslop L, Prathalingam N, Nowaki L, Fenwick J, Harbottle S, Byerley S, Rhodes J, Watson B, Henderson R, Murdoch A, Herbert M. A novel isolator-based system to control physicochemical environment during laboratory processing promotes viability of human embryos. PLoS One 2012. In Press.
• 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.
• 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.
• 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.
• Ratnayake M, Reynard LN, Raine EV, Santibanez-Koref M, Loughlin J. ALLELIC EXPRESSION ANALYSIS OF THE OSTEOARTHRITIS SUSCEPTIBILITY LOCUS THAT MAPS TO MICAL3. In: OSTEOARTHRITIS AND CARTILAGE. 2012, THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND: ELSEVIER SCI LTD.
• Watkins SJ, Borthwick GM, Oakenfull R, Robson A, Arthur HM. Angiotensin II-induced cardiomyocyte hypertrophy in vitro is mediated by Smad-independent TGFβ1 signalling through TAK1. Hypertension Research 2012. In Press.
• 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.
• Murray JS, Baines LA, Pearce SHS, Ball S, Leech N, Wood KM, Kanagasundaram NS. Anti-neutrophil cytoplasmic antibody (ANCA) associated small-vessel vasculitis in a patient with diabetic nephropathy and autoimmune polyendocrinopathy syndrome (APS) type 2: a case report. Clinical Nephrology 2012. In Press.
• 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.
• 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.
• Mitchell AL, Pearce SHS. Autoimmune Addison disease: pathophysiology and genetic complexity. Nature Reviews Endocrinology 2012, 8(5), 306-316.
• 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.
• 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.
• 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, (epub ahead of print).
• 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.
• Bamforth SD, Chaudhry B, Bennett M, Wilson R, Mohun TJ, van Mierop LHS, Henderson DJ, Anderson RH. Clarification of the identity of the mammalian fifth pharyngeal arch artery. Clinical Anatomy 2012. In Press.
• Wright MJ, Irving MD. Clinical management of achondroplasia. Archives of Disease in Childhood 2012, 97(2), 129-134.
• 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.
• Sethe S, Murdoch A. Comparing the burden: What can we learn by comparing regulatory frameworks in Abortion and Fertility services?. Health Care Analysis 2012, (epub ahead of print).
• Ermini L, Wilson IJ, Goodship THJ, Sheerin NS. Complement polymorphisms: Geographical distribution and relevance to disease. Immunobiology 2012, 217(2), 265-271.
• 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.
• 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, Zwolinski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O'Sullivan J, Winlaw DS, Bu'Lock F, Brook F, Bhattacharya S, Lathrop M, Santibanez-Koref H, 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. Submitted.
• Ternent L, Vale L, Boachie C, Burr JM, Lois N, Full-Thickness Macular Hole and Internal Limiting Membrane Peeling Study (FILMS) Group. Cost-effectiveness of internal limiting membrane peeling versus no peeling for patients with an idiopathic full-thickness macular hole: results from a randomised controlled trial. British Journal of Opthalmology 2012, 96(3), 438-443.
• Jiang Y, Cowley SA, Siler U, Melguizo D, Tilgner K, Browne C, Dewilton A, Przyborski 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. Stem Cells 2012, 30(4), 599-611.
• Bell E, Richardson GD, Jahoda C, Phillips H, Henderson D, Owens WA, Hole H. Dermal stem cells can differentiate down an endothelial lineage. Stem Cells and Development 2012. In Press.
• Chuang SC, Jenab M, Heck JE, Bosetti C, Talamini R, Matsuo K, Castellsague X, Franceschi S, Herrero R, Winn DM, La Vecchia C, Morgenstern H, Zhang ZF, Levi F, Dal Maso L, Kelsey K, McClean MD, Vaughan T, Lazarus P, Muscat J, Ramroth H, Chen C, Schwartz SM, Eluf-Neto J, Hayes RB, Purdue M, Boccia S, Cadoni G, Zaridze D, Koifman S, Curado MP, Ahrens W, Benhamou S, Matos E, Lagiou P, Szeszenia-Dabrowska N, Olshan AF, Fernandez L, Menezes A, Agudo A, Daudt AW, Merletti F, Macfarlane GJ, Kjaerheim K, Mates D, Holcatova I, Schantz S, Yu GP, Simonato L, Brenner H, Mueller H, Conway DI, Thomson P, Fabianova E, Znaor A, Rudnai P, Healy CM, Ferro G, Brennan P, Boffetta P, Hashibe M. Diet and the risk of head and neck cancer: a pooled analysis in the INHANCE consortium. Cancer Causes & Control 2012, 23(1), 69-88.
• 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.
• Yu-Wai-Man P, Chinnery PF. Dysfunctional mitochondrial maintenance: what breaks the circle of life?. Brain 2012, 135(1), 9-11.
• 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.
• Lindsay S, Brittain K, Jackson D, Ladha C, Ladha K, Olivier P. Empathy, Participatory Design and People with Dementia. In: Human Factors in Computing Systems (CHI). 2012, Austin, Texas, USA. In Press.
• 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.
• Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee NY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJF, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Ysunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Joles JA, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Otto EA, Hildebrandt F. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012. In Press.
• Kavanagh D, Pappworth IY, Anderson H, Hayes CM, Moore I, Hunze EM, Bennaceur K, Roversi P, Lea S, Strain L, Ward R, Plant N, Nailescu C, Goodship TH, Marchbank KJ. Factor I Autoantibodies in Patients with Atypical Hemolytic Uremic Syndrome: Disease-Associated or an Epiphenomenon?. Clinical Journal of the American Society of Nephrology 2012, (epub ahead of print).
• Chaudhry B, Chrystal P, Henderson DJ. Fast Digital Laser Sheet Microscopy: swimaging in 6 dimensions. In: 2nd Congress of the European Society of Cardiology Council on Basic Cardiovascular Science: Frontiers in Cardiovascular Biology. 2012, London, UK: Oxford University Press.
• Allen D, Habib M, Steel D. Final incision size after implantation of a hydrophobic acrylic aspheric intraocular lens: New motorized injector versus standard manual injector. Journal of Cataract & Refractive Surgery 2012, 38(2), 249–255.
• McKay JA, Groom A, Potter C, Coneyworth LJ, Ford D, Mathers JC, Relton CL. Genetic and Non-Genetic Influences during Pregnancy on Infant Global and Site Specific DNA Methylation: Role for Folate Gene Variants and Vitamin B₁₂. PLoS One 2012, 7(3), e33290.
• Winder-Rhodes SE, Garcia-Reitbock P, Ban M, Evans JR, Jacques TS, Kemppinen A, Foltynie T, Williams-Gray CH, Chinnery PF, Hudson G, Burn DJ, Allcock LM, Sawcer SJ, Barker RA, Spillantini MG. Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome. Movement Disorders 2012, 27(2), 312-315.
• Sitarz KS, Yu-Wai-Man P, Hudson G, Jacob A, Boggild M, Horvath R, Chinnery PF. Genetic variations within the OPA1 gene are not associated with neuromyelitis optica. Multiple Sclerosis 2012, 18(2), 240-243.
• Sans-Coma V, Fernandez MC, Fernandez B, Duran AC, Anderson RH, Arque JM. Genetically alike Syrian hamsters display both bifoliate and trifoliate aortic valves. Journal of Anatomy 2012, 220(1), 92-101.
• Pearce MS, McConnell JC, Barrett LM, Mathers JC, Parker L, Relton CL. Global LINE-1 DNA methylation is associated with blood glycaemic and lipid profiles. International Journal of Epidemiology 2012. In Press.
• Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VPM, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WWK, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, Garcia-Minaur S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, de Silva DC, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. European Journal of Human Genetics 2012, 20(4), 381-388.
• Hollingsworth KG, Hodgson T, Macgowan GA, Blamire AM, Newton JL. Impaired cardiac function in chronic fatigue syndrome measured using magnetic resonance cardiac tagging. Journal of Internal Medicine 2012, 271(3), 264-270.
• Ueki M, Cordell HJ. Improved Statistics for Genome-Wide Interaction Analysis. PLoS Genetics 2012, 8(4), e1002625.
• Ali H, Forraz N, McGuckin C, Jurga M, Lindsay S, Ip BK, Trevelyan A, Basford C, Habibollah S, Ahmad S, Clowry GJ, Bayatti N. In vitro modelling of cortical neurogenesis by sequential induction of human umbilical cord blood stem cells. Stem Cell Reviews and Reports 2012, 8(1), 210-223.
• Kavanagh D, Anderson HE. Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome. Kidney International 2012, 81(1), 11-3.
• Brown SJ, Kroboth K, Sandilands A, Campbell LE, Pohler E, Kezic S, Cordell HJ, McLean WHI, Irvine AD. Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect. Journal of Investigative Dermatology 2012, 132(1), 98-104.
• Relton CL, Davey-Smith G. Is epidemiology ready for epigenetics?. International Journal of Epidemiology 2012, 41(1), 5-9.
• Hynes AM, Sayer JA. Is there anything good in uric acid?. QJM 2012, 105(4), 395-395.
• Yu-Wai-Man P, Chinnery PF. Leber hereditary optic neuropathy – Therapeutic challenges and early promise. Taiwan Journal of Ophthalmology 2012, 1(1), 12-15.
• McDiarmid A, MacGowan GA, Parry G, Schueler S, Trenell MI, Jakovljevic DG. Left ventricular assist device implantation significantly improves everyday physical activity and quality of life in patients with chronic heart failure. In: Annual Congress of the International Society for Heart and Lung Transplantation. 2012, Prague, Czech Republic. In Press.
• Hollingsworth KG, Blamire AM, Keavney BD, MacGowan GA. Left ventricular torsion, energetics, and diastolic function in normal human aging. American Journal of Physiology: Heart and Circulatory Physiology 2012, 302(4), H885-H892.
• Razvi S, Weaver JU, Butler TJ, Pearce SHS. Levothyroxine Treatment of Subclinical Hypothyroidism, Fatal and Nonfatal Cardiovascular Events, and Mortality. Archives of Internal Medicine 2012, (epub ahead of print).
• Kwiatkowski A, Ryckewaert G, Tchofo PJ, Moreau C, Vuillaume I, Chinnery PF, Destee A, Defebvre L, Devos D. Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation. Parkinsonism & Related Disorders 2012, 18(1), 110-112.
• Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rotig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. Journal of Medical Genetics 2012, 49(2), 83-89.
• Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S. Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Human Molecular Genetics 2012, 21(7), 1496-1503.
• Phillips HM, Papoutsi T, Soenen H, Ybot-Gonzalez P, Henderson DJ, Chaudhry B. Neural Crest Cell Survival is Dependent on Rho Kinase and is Required for Development of the Mid Face in Mouse Embryos. PLoS One 2012. In Press.
• Sieber-Blum Maya, ed. Neural Crest Stem Cells: Breakthroughs and Applications. Singapore: World Scientific Publishing Co. Ltd, 2012. In Press.
• Keogh MJ, Jonas P, Coulthard A, Chinnery PF, Burn J. Neuroferritinopathy: a new inborn error of iron metabolism. Neurogenetics 2012, 13(1), 93-96.
• Tan HL, Glen E, Topf A, Hall D, O'Sullivan JJ, Sneddon L, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD. Non-synonymous variants in the SMAD6 gene exhibit impaired inhibition of BMP signalling and predispose to congenital cardiovascular malformation. Human Mutation 2012, (epub ahead of print).
• Anderson RH, Chaudhry B, Mohun TJ, Bamforth SD, Hoyland D, Phillips HM, Webb S, Moorman AF, Brown NA, Henderson DJ. Normal and abnormal development of the intrapericardial arterial trunks in man and mouse. Cardiovascular Research 2012, (epub ahead of print).
• Anderson RH, Chaudhry B, Mohun TJ, Bamforth SD, Hoyland D, Phillips HM, Webb S, Moorman AF, Brown NA, Henderson DJ. Normal and Abnormal Development of the Intrapericardial Arterial Trunks in Man and Mouse. Cardiovasc Res 2012. In Press.
• Richiardi L, Corbin M, Marron M, Ahrens W, Pohlabeln H, Lagiouu P, Agudo A, Castellsague X, Slamova A, Thomson PJ, Znoar A, Healy CM, McCartan BE, Brennan P, Merletti F. Occupation and risk of upper aerodigestive tract cancer: The ARCAGE study. International Journal of Cancer 2012, 130(10), 2397-2406.
• Armstrong L, Lako M, Buckley N, Lappin TRJ, Murphy MJ, Nolta JA, Pittenger M, Stojkovic M. Our Top 10 Developments in Stem Cell Biology over the Last 30 Years. Stem Cells 2012, 30(1), 2-9.
• Wilkes S, Murdoch A. Ovulation induction with clomifene: a primary care perspective. Journal of Family Planning and Reproductive Health Care 2012, 38(1), 48-52.
• Winney B, Boumertit A, Day T, Davison D, Echeta C, Evseeva I, Hutnik K, Leslie S, Nicodemus K, Royrvik EC, Tonks S, Yang XF, Cheshire J, Longley P, Mateos P, Groom A, Relton C, Bishop DT, Black K, Northwood E, Parkinson L, Frayling TM, Steele A, Sampson JR, King T, Dixon R, Middleton D, Jennings B, Bowden R, Donnelly P, Bodmer W. People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population. European Journal of Human Genetics 2012, 20(2), 203-210.
• Srinivasan R, Harigopal S, Turner S, Cheetham T. Permanent and transient congenital hypothyroidism in preterm infants. Acta Paediatrica 2012, 101(4), e179–e182.
• Jenkinson EM, Clayton-Smith J, Mehta S, Bennett C, Reardon W, Green A, Pearce SHS, De Michele G, Conway GS, Cilliers D, Moreton N, Davis JR, Trump D, Newman WG. Perrault syndrome: further evidence for genetic heterogeneity. Journal of Neurology 2012, 259(5), 168-176.
• Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devreindt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue G, Winlaw D, Hurles M, Santibanez-Koref M, Cordell H, Goodship J, Keavney B. Phenotype-Specific Effect of Chromosome 1q21.1Rearrangements and GJA5 Duplications in 2437 CongenitalHeart Disease Patients and 6760 Controls. Human Molecular Genetics 2012, (epub ahead of print).
• Groom A, Potter C, Swan DC, Fatemifar G, Evans DM, Ring SM, Turcot V, Pearce MS, Embleton ND, Smith GD, Mathers JC, Relton CL. Postnatal Growth and DNA Methylation Are Associated With Differential Gene Expression of the TACSTD2 Gene and Childhood Fat Mass. Diabetes 2012, 61(2), 391-400.
• Prathalingam N, Ferguson L, Young L, Lietz G, Oldershaw R, Healy L, Craig A, Lister H, Binaykia R, Sheth R, Murdoch A, Herbert M. Production and validation of a good manufacturing practice grade human fibroblast line for supporting human embryonic stem cell derivation and culture. Stem Cell Research and Therapy 2012, 3(2), 12.
• Bathgate D, Yu-Wai-Man P, Webb B, Taylor RW, Fowler B, Chinnery PF. Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations. Journal of Neurology, Neurosurgery and Psychiatry 2012, 83(1), 115-115.
• Woodsford P, Cheetham T. Recruiting to clinical trials: hospital or home?. Archives of Disease in Childhood 2012, 97(1), 91.
• Venables JP, Tazi J, Juge F. Regulated functional alternative splicing in Drosophila. Nucleic Acids Research 2012, 40(1), 1-10.
• Macfarlane T, Macfarlane G, Thakker N, Benhamou S, Bouchardy C, Ahrens W, Pohlabein H, Conway D, Thomson P, Sloan P, Znaor A, Healy C, McCartan B, Brennan P. Role of medical history and medication use in the aetiology of upper aerodigestive tract cancers in Europe: the ARACAGE study. Annals of Oncology 2012, 23(4), 1053-1060.
• Hong EA, Gautrey HL, Elliott DJ, Tyson-Capper AJ. SAFB1 and SAFB2 mediated transcriptional repression: relevance in cancer. Transactions of the Biochemical Society 2012. In Press.
• Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Guerreiro R, Hardy J, Holton JL, Lees A, Morrison K, Sheerin UM, Williams N, Morris H, Revesz T, Wood NW. Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiology of Aging 2012, 33(4), 838.e7.
• Swingler TE, Wheeler G, Carmont V, Elliott HR, Barter MJ, Abu-Elmagd M, Donell ST, Boot-Handford RP, Hajihosseini MK, Münsterberg A, Dalmay T, Young DA, Clark IM. The expression and function of microRNAs in chondrogenesis and osteoarthritis. Arthritis and Rheumatism 2012, (epub ahead of print).
• Narayan SK, Gorman G, Kalaria RN, Ford GA, Chinnery PF. The minimum prevalence of CADASIL in northeast England. Neurology 2012, 78(13), 1025-1027.
• 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 2012, 156(2), 133-138.
• Sizarov A, Lamers WH, Mohun TJ, Brown NA, Anderson RH, Moorman AFM. Three-dimensional and molecular analysis of the arterial pole of the developing human heart. Journal of Anatomy 2012, 220(4), 336-349.
• Venables JP, Vignal E, Baghdiguian S, Fort P, Tazi J. Tissue-specific alternative splicing of Tak1 is conserved in deuterostomes. Molecular Biology and Evolution 2012, 29(1), 261-269.
• Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012.
• Chakera AJ, Pearce SHS, Vaidya B. Treatment for primary hypothyroidism: current approaches and future possibilities. Drug Design, Development and Therapy 2012, 6, 1-11.
• Relton CL, Davey-Smith G. Two-step epigenetic Mendelian randomization: a strategy for establishing the causal role of epigenetic processes in pathways to disease. International Journal of Epidemiology 2012, 41(1), 161-176.
• Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Moriniere V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GCP, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang XJ, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Human Mutation 2012, 33(3), 457-466.