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

• Nakatomi M, Hovorakova M, Gritli-Linde A, Blair HJ, Macarthur K, Peterka M, Lesot H, Peterkova R, Ruiz-Perez VL, Goodship JA, Peters H. Evc regulates a symmetrical response to Shh signaling in molar development. Journal of Dental Research 2013, 92(3), 222-228.
• 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 2013, (epub ahead of print).
• Tilgner K, Neganova I, Moreno I, AlAama JY, Burks D, Yung S, Singhapol C, Saretzki G, Evans J, Gorbunova V, Gennery A, Pryzborski S, Stojkovic M, Armstrong L, Jeggo P, Lako M. A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors. Cell Death and Differentiation 2013. In Press.
• Rodenburg RJT, Schoonderwoerd GC, Tiranti V, Taylor RW, Rotig A, Valente L, Invernizzi F, Chretien D, He L, Backx GPBM, Janssen KJGM, Chinnery PF, Smeets HJ, De Coo IF, van den Heuvel LP. A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders. Mitochondrion 2013, 13(1), 36-43.
• Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, DeDeyn PP, Van Broeckhoven C, Mann DM, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin UM, Bras J, Hardy J, Clark L, Marder K, Honig LS, Berg D, Maetzler W, Brockmann K, Gasser T, Novellino F, Quattrone A, Annesi G, De Marco EV, Rogaeva E, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, Nichols WC, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson BI, Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, Singleton AB, Wolfsberg TG, Sidransky E. A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies. JAMA Neurology 2013, (epub ahead of print).
• Moad M, Pal D (joint first author), Hepburn AC, Williamson SC, Wilson L, Lako M, Armstrong L, Hayward SW, Franco O, Cates J, Fordham SE, Przyborskid S, Carr-Wilkinson J, Robson CN, Heer R. A novel model of urinary tract differentiation, tissue regeneration and disease: Reprogramming of human prostate and bladder cells into induced pluripotent stem cells. European Urology 2013. In Press.
• Gan E, Pattman S, Pearce SHS, Quinton R. A UK epidemic of testosterone prescribing, 2001-10. Clinical Endocrinology 2013, (epub ahead of print).
• Baylis O, Rooney P, Figueiredo F, Lako M, Ahmad S. An investigation of donor and culture parameters which influence epithelial outgrowths from cultured human cadaveric limbal explants. Journal of Cellular Physiology 2013, 228(5), 1025-1030.
• 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 2013, (epub ahead of print).
• Sims AJ, Keltie K, Burn J, Robson SC. Assessment of competency in clinical measurement: comparison of two forms of sequential test and sensitivity of test error rates to parameter choice. International Journal for Quality in Health Care 2013, 25(epub ahead of print).
• Blain A, Greally E, Laval S, Blamire A, Straub V, MacGowan GA. Beta-Blockers, Left and Right Ventricular Function, and In-Vivo Calcium Influx in Muscular Dystrophy Cardiomyopathy. PLoS One 2013, 8(2), e57260.
• Hunt NC, Shelton RM, Henderson DJ, Grover LM. Calcium-Alginate Hydrogel-Encapsulated Fibroblasts Provide Sustained Release of Vascular Endothelial Growth Factor. Tissue Engineering Part A 2013, 19(7-8), 905-914.
• Gericota B, Anderson JS, Mitchell G, Borjesson DL, Sturges BK, Nolta JA, Sieber-Blum M. Canine Epidermal Neural Crest Stem Cells (cEPI-NCSC) – Characterization and Potential as a Therapy Candidate for a Large Animal Model of Spinal Cord Injury. Stem Cells Translational Medicine 2013. Submitted.
• Meeson A. Cardiac Stem cells. European Pharmaceutical Review 2013, 18(2), 29-31.
• Hallsworth K, Hollingsworth KG, Thoma C, Jakovljevic DG, MacGowan GA, Anstee QM, Taylor R, Day CP, Trenell MI. Cardiac structure and function are altered in adults with non-alcoholic fatty liver disease. Journal of Hepatology 2013, (epub ahead of print).
• 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 2013, 26(2), 173-182.
• Spicer DE, Anderson RH, Backer CL. Clarifying the Surgical Morphology of Inlet Ventricular Septal Defects. Annals of Thoracic Surgery 2013, 95(1), 236-241.
• Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. Mitochondrion 2013, (epub ahead of print).
• Bresin E, Rurali E, Caprioli J, Sanchez-Corral P, Fremeaux-Bacchi V, de Cordoba SR, Pinto S, Goodship THJ, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M, European Working Party Complement. Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype. Journal of the American Society of Nephrology 2013, 24(3), 475-486.
• Fakiola M, Strange A, Cordell HJ, Miller EN, Pirinen M, Su Z, Mishra A, Mehrotra S, Monteiro GR, Band G, Bellenguez C, Dronov S, Edkins S, Freeman C, Giannoulatou E, Gray E, Hunt SE, Lacerda HG, Langford C, Pearson R, Pontes NN, Rai M, Singh SP, Smith L, Sousa O, Vukcevic D, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CNA, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Wilson ME, Deloukas P, Peltonen L, Christiansen F, Witt C, Jeronimo SMB, Sundar S, Spencer CCA, Blackwell JM, Donnelly P, LeishGEN Consortium, Wellcome Trust Case Control. Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. Nature Genetics 2013, 45(2), 208-213.
• Harper AR, Mayosi BM, Rodriguez A, Rahman T, Hall D, Mamasoula C, Avery PJ, Keavney BD. Common Variation Neighbouring Micro-RNA 22 Is Associated with Increased Left Ventricular Mass. PLoS One 2013, 8(1), e55061.
• Koika V, Varnavas P, Valavani H, Sidis Y, Plummer L, Dwyer A, Quinton R, Kanaka-Gantenbein C, Pitteloud N, Sertedaki A, Dacou-Voutetakis C, Georgopoulos NA. Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH). Gene 2013, 516(1), 146-151.
• Sethe S, Murdoch A. Comparing the burden: What can we learn by comparing regulatory frameworks in Abortion and Fertility services?. Health Care Analysis 2013, (epub ahead of print).
• Honold J, DeRosa S, Spyridopoulos I, Fischer-Rasokat U, Seeger FH, Leistner D, Lotz S, Levy WC, Zeiher AM, Assmus B. Comparison of the Seattle Heart Failure Model and Cardiopulmonary Exercise Capacity for Prediction of Death in Patients With Chronic Ischemic Heart Failure and Intracoronary Progenitor Cell Application. Clinical Cardiology 2013, 36(3), 153-159.
• Bates MG, Hollingsworth KG, Newman J, Jakovljevic DG, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodeling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. European Heart Journal - Cardiovascular Imaging 2013, (epub ahead of print).
• Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ, WGS500 Consortium, Donnelly P, Bentley D, McGowan SJ, Muller J, Palace J, Lochmuller H, Beeson D. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain 2013, 136(3), 944-956.
• Vettukattil JJ, Ahmed Z, Salmon AP, Mohun T, Anderson RH. Defects in the Oval Fossa: Morphologic Variations and Impact on Transcatheter Closure. Journal of the American Society of Echocardiography 2013, 26(2), 192-199.
• Anderberg C, Cunha S, Zhai Z, Cortez E, Pardali E, Johnson J, Franco M, Paez-Ribes M, Cordiner R, Fuxe J, Johansson BR, Goumans MJ, Casanovas O, ten Dijke P, Arthur HM, Pietras K. Deficiency for endoglin in tumor vasculature weakens the endothelial barrier to metastatic dissemination. Journal of Experimental Medicine 2013, 210(3), 563-579.
• Anderson RH, Spicer DE, Hlavacek AJ, Hill A, Loukas M. Describing the Cardiac Components-Attitudinally Appropriate Nomenclature. Journal of Cardiovascular Translational Research 2013, 6(2), 118-123.
• van Engelen K, Postma AV, van de Meerakker JBA, Roos-Hesselink JW, Helderman-van den Enden ATJM, Vliegen HW, Rahman T, Baars MJH, Sels JW, Bauer U, Pickardt T, Sperling SR, Moorman AFM, Keavney B, Goodship J, Klaassen S, Mulder BJM. Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7. Netherlands Heart Journal 2013, 21(3), 113-117.
• Garralda ME, McConachie H, LeCouteur A, Sriranjan S, Chakrabarti I, Guglieri M, Cirak S, Bushby K, Muntoni F. Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. Child: Care, Health and Development 2013, (epub ahead of print).
• Blakey K, Johnson G, McNally RJ, Court S, Potts A, Stephenson C, Lamb B, Cheetham TD. Establishing a registry of children and young people with diabetes in north east England and north Cumbria. Practical Diabetes 2013, 30(2), 85-90.
• Pienaar IS, Chinnery PF. Existing and emerging mitochondrial-targeting therapies for altering Parkinson's disease severity and progression. Pharmacology & Therapeutics 2013, 137(1), 1-21.
• Collerton J, Asok D, Martin Ruiz C, Pyle A, Hudson G, Yadegarfar M, Davies K, Jagger C, von Zglinicki T, Kirkwood T, Chinnery P. Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old. Neurobiology of Aging 2013. In Press.
• Cordell HJ, Topf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Riveron JG, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJM, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu'Lock FA, Thornborough C, O'Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw D, Mital S, Gewillig M, Breckpot J, Devriendt K, Moorman AFM, Rauch A, Lathrop GM, Keavney BD, Goodship JA. Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot. Human Molecular Genetics 2013, 22(7), 1473-1481.
• Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Winlaw D, Bhattacharya S, Brook JD, Mulder BJM, Devriendt K, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nature Genetics 2013. In Press.
• Beekman M, Blanche H, Perola M, Hervonen A, Bezrukov V, Sikora E, Flachsbart F, Christiansen L, De Craen AJM, Kirkwood TBL, Rea IM, Poulain M, Robine JM, Valensin S, Stazi MA, Passarino G, Deiana L, Gonos ES, Paternoster L, Sorensen TIA, Tan QH, Helmer Q, van den Akker EB, Deelen J, Martella F, Cordell HJ, Ayers KL, Vaupel JW, Tornwall O, Johnson TE, Schreiber S, Lathrop M, Skytthe A, Westendorp RGJ, Christensen K, Gampe J, Nebel A, Houwing-Duistermaat JJ, Slagboom PE, Franceschi C, GEHA Consortium. Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study. Aging Cell 2013, 12(2), 184-193.
• McCormack P, Woods S, Aartsma-Rus A, Hagger L, Herczegfalvi A, Heslop E, Irwin J, Kirschner J, Moeschen P, Muntoni F, Ouillade M-C, Rahbek J, Rehmann-Sutter C, Rouault F, Sejersen T, Vroom E, Straub V, Bushby K, Ferlini A. Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. 2013. Available at: http://dx.doi.org/10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec.
• McDiarmid A, Gordon B, Wrightson N, Robinson-Smith N, Pillay T, Parry G, Schueler S, MacGowan GA. Hemodynamic, Echocardiographic, and Exercise-Related Effects of the HeartWare Left Ventricular Assist Device in Advanced Heart Failure. Congestive Heart Failure 2013, 19(1), 11-15.
• Greally E, Davison BJ, Blain A, Laval S, Blamire A, Straub V, MacGowan GA. Heterogeneous abnormalities of in-vivo left ventricular calcium influx and function in mouse models of muscular dystrophy cardiomyopathy. Journal of Cardiovascular Magnetic Resonance 2013, 15, 4.
• Jamil F, McNally RJ, Richardson D, Ball S, Cheetham T. High likelihood of malignancy in young patients presenting with a thyroid nodule in Northern England. Clinical Endocrinology 2013, (epub ahead of print).
• Narytnyk A, Verdon B, Loughney A, Sweeney M, Clewes O, Taggart MJ, Sieber-Blum M. Homogeneous population of midbrain dopaminergic neurons from human epidermal neural crest stem cells (hEPI-NCSC). Annals of Neurology 2013. Submitted.
• Muirhead CR, Cheetham TD, Court S, Begon M, McNally RJQ. How do childhood diagnoses of type 1 diabetes cluster in time?. PLoS One 2013, 8(4), e60489.
• Keogh MJ, Chinnery PF. How to spot mitochondrial disease in adults. Clinical Medicine 2013, 13(1), 87-92.
• Hill RP, Gardner A, Crawford HC, Richer R, Dodds A, Owens WA, Lawrence C, Rao S, Kara B, James SE, Jahoda CA. Human hair follicle dermal sheath and papilla cells support keratinocyte growth in monolayer coculture. Experimental Dermatology 2013, 22(3), 236-238.
• 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 LY, Carter-Su C, Farooqi IS. Human SH2B1 mutations are associated with maladaptive behaviors and obesity (vol 123, pg 526, 2013). Journal of Clinical Investigation 2013, 123(1), 526-526.
• Shaharuddin B, Ahmad S, Meeson A, Ail S. Immunological Properties of Ocular surface and Importance of Limbal Stem Cells for Transplantation. Stem Cells Translation Medicine 2013. In Press.
• Sinha A, Hollingsworth K, Ball S, Cheetham T. Improving the Vitamin D status of Vitamin D deficient adults is associated with improved mitochondrial oxidative function in skeletal muscle. Journal of Clinical Endocrinology and Metabolism 2013, 98(3), E509-E513.
• Lee K, Santibanez-Koref M, Polvikoski T, Birchall D, Mendelow AD, Keavney B. Increased expression of fatty acid binding protein 4 and leptin in resident macrophages characterises atherosclerotic plaque rupture. Atherosclerosis 2013, 226(1), 74-81.
• Elson JL, Cadogan M, Apabhai S, Whittaker RG, Phillips A, Trennell MI, Horvath R, Taylor RW, McFarland R, McColl E, Turnbull DM, Gorman GS. Initial development and validation of a mitochondrial disease quality of life scale. Neuromuscul Disord 2013, 324-9.
• Anderson RH, Brown NA, Mohun TJ, Moorman AFM. Insights from Cardiac Development Relevant to Congenital Defects and Adult Clinical Anatomy. Journal of Cardiovascular Translational Research 2013, 6(2), 107-117.
• Shaharuddin B, Ahmad S, Ali S, Meeson A. Limbal Side Population cells: a future treatment for limbal stem cell deficiency. Regenerative Medicine 2013, 8(3), 319-331.
• Knuth CA, Clark ME, Meeson AP, Khan SK, Dowen DJ, Deehan DJ, Oldershaw RA. Low Oxygen Tension is Critical for the Culture Of Human Mesenchymal Stem Cells with Strong Osteogenic Potential from Haemarthrosis Fluid. Stem Cell Reviews and Reports 2013. In Press.
• Wang X, Abraham S, McKenzie JAG, Jeffs N, Swire M, Tripathi V, Luhmann UFO, Lange CAK, Zhai Z, Arthur HM, Bainbridge J, Moss SE, Greenwood J. LRG1 promotes angiogenesis by modulating endothelial TGFß signalling. Nature 2013. In Press.
• Spicer DE, Anderson RH. Methodological Review of Ventricular Anatomy-the Basis for Understanding Congenital Cardiac Malformations. Journal of Cardiovascular Translational Research 2013, 6(2), 145-154.
• Pacheu-Grau D, Gómez-Durán A, Iglesias E, López-Gallardo E, Montoya J, Ruiz-Pesini E. Mitochondrial antibiograms in personalized medicine. Human Molecular Genetics 2013, 22(6), 1132-1139.
• Sieber-Blum M, Hu YF. Mouse epidermal neural crest stem cell (EPI-NCSC) cultures. Journal of Visualized Experiments 2013, 15, e772.
• Talim B, Pyle A, Griffin H, Topaloglu H, Tokatli A, Keogh MJ, Santibanez-Koref M, Chinnery PF, Horvath R. Multisystem fatal infantile disease caused by a novel homozygous EARS₂ mutation. Brain 2013, 136(2), e228.
• Phillips HM, Mahendran P, Singh E, Anderson RH, Chaudhry B, Henderson DJ. Neural crest cells are required for correct positioning of the developing outflow cushions and pattern the arterial valve leaflets. Cardiovascular Research 2013. In Press.
• Hudson G, Panoutsopoulou K, Wilson I, Southam L, Rayner NW, Arden N, Birrell F, Carluke I, Carr A, Chapman K, Deloukas P, Doherty M, McCaskie A, Ollier WE, Ralston SH, Reed MR, Spector TD, Valdes AM, Wallis GA, Wilkinson JM, Zeggini E, Samuels DC, Loughlin J, Chinnery PF, arcOGEN Consortium. No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls. Annals of Rheumatic Diseases 2013, 72(1), 136-139.
• Meeson A, Fuller A, Breault D, Owens W, Richardson G. Optimised Protocols for the Identification of the Murine Cardiac Side Population. Stem Cell Reviews and Reports 2013, (epub ahead of print).
• Klopstock T, Metz G, Yu-Wai-Man P, Buchner B, Gallenmuller C, Bailie M, Nwali N, Griffiths PG, von Livonius B, Reznicek L, Rouleau J, Coppard N, Meier T, Chinnery PF. Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy. Brain 2013, 136(2), e230.
• Atkinson SP, Lako M, Armstrong L. Potential for Pharmacological Manipulation of Human Embryonic Stem Cells. British Journal of Pharmacology 2013, (epub ahead of print).
• Wagner M, Chaouch A, Muller JS, Polvikoski T, Willis TA, Sarkozy A, Eagle M, Bushby K, Straub V, Lochmuller H. Presymptomatic late-onset Pompe disease identified by the dried blood spot test. Neuromuscular Disorders 2013, 23(1), 89-92.
• Samuels DC, Wonnapinij P, Chinnery PF. Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer?. Human Reproduction 2013, 28(3), 554-559.
• Sinha A, Cheetham TD, Pearce SHS. Prevention and Treatment of Vitamin D Deficiency. Calcified Tissue International 2013, 92(2), 207-215.
• Venables JP, Brosseau JP, Gadea G, Klinck R, Prinos P, Beaulieu JF, Lapointe E, Durand M, Thibault P, Tremblay K, Rousset F, Tazi J, Abou Elela S, Chabot B. RBFOX2 Is an Important Regulator of Mesenchymal Tissue-Specific Splicing in both Normal and Cancer Tissues. Molecular and Cellular Biology 2013, 33(2), 396-405.
• Schwietz T, Spyridopoulos I, Pfeiffer S, Laskowski R, Palm S, De Rosa S, Jens K, Zeiher AM, Schachinger V, Fichtlscherer S, Lehmann R. Risk Stratification Following Complex PCI: Clinical Versus Anatomical Risk Stratification Including "Post PCI Residual SYNTAX-Score" as Quantification of Incomplete Revascularization. Journal of Interventional Cardiology 2013, 26(1), 29-37.
• Wong EKS, Brady M, Sheerin NS. Severe intestinal oedema due to nephrotic syndrome. QJM 2013, 106(2), 191-192.
• Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR. SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain 2013, 136(1), 294-303.
• Anderson RH, Boyett MR, Dobrzynski H, Moorman AFM. The Anatomy of the Conduction System: Implications for the Clinical Cardiologist. Journal of Cardiovascular Translational Research 2013, 6(2), 187-196.
• Caparrós-Martín JA, Valencia M, Reytor E, Pacheco M, Fernandez M, Perez-Aytes A, Gean E, Lapunzina P, Peters H, Goodship JA, Ruiz-Perez VL. The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia. Human Molecular Genetics 2013, 22(1), 124-139.
• Osei-Bempong C, Figueiredo FC, Lako M. The limbal epithelium of the eye A review of limbal stem cell biology, disease and treatment. BioEssays 2013, 35(3), 211-219.
• Guthrie G, Pfeffer G, Bailie M, Bradshaw K, Browning AC, Horvath R, Chinnery PF, Yu-Wai-Man P. The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia. Journal of Neurology 2013, 260(3), 906-909.
• Ehrmann I, Dalgliesh C, Liu Y, Danilenko M, Crosier M, Overman L, Arthur HM, Lindsay S, Clowry GJ, Venables JP, Fort P, Elliott DJ. The Tissue-Specific RNA Binding Protein T-STAR Controls Regional Splicing Patterns of Neurexin Pre-mRNAs in the Brain. PLoS Genetics 2013, 9(4), e1003474.
• Tremblay JP, Xiao X, Aartsma-Rus A, Barbas C, Blaus HM, Bogdanove AJ, Boycott K, Brauns S, Breakefield XO, Bueren JA, Buschmann M, Byrne BJ, Calos M, Cathomen T, Chamberlain J, Chuah M, Cornetta K, Davies KE, Dickson JG, Duchateau P, Flotte TR, Gaudet D, Gersbach CA, Gilbert R, Glorioso J, Herzog RW, High KA, Huang WL, Huard J, Joung JK, Liu DP, Liu DX, Lochmuller H, Lustig L, Martens J, Massie B, Mavilio F, Mendell JR, Nathwani A, Ponder K, Porteus M, Puymirat J, Samulski J, Takeda S, Thrasher A, VandenDriessche T, Wei YQ, Wilson JM, Wilton SD, Wolfe JH, Gao GP. Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases. Molecular Therapy 2013, 21(2), 266-268.
• Perugorria MJ, Murphy LB, Fullard N, Chakraborty JB, Vyrla D, Wilson CL, Oakley F, Mann J, Mann DA. Tumor progression locus 2/Cot is required for activation of extracellular regulated kinase in liver injury and toll-like receptor-induced TIMP-1 gene transcription in hepatic stellate cells in mice. Hepatology 2013, 57(3), 1238-1249.
• MacGowan GA, Parry G, Hasan A, Schueler S. Ventricular assist devices for advanced heart failure: evidence that cannot be ignored. European Journal of Cardio-Thoracic Surgery 2013, (epub ahead of print).
• Nelson KE, Bates MA, Turley AJ, Linker NJ, Owens WA. Video-Assisted Thoracoscopic Left Ventricular Pacing in Patients With and Without Previous Sternotomy. Annals of Thoracic Surgery 2013, 95(3), 907-913.
• Tual-Chalot S, Allinson KR, Fruttiger M, Arthur HM. Whole mount immunofluorescent staining of the neonatal mouse retina to investigate angiogenesis in vivo. Jove 2013. In Press.
• Manoukian S, Verderio P, Tabano S, Colapietro P, Pizzamiglio S, Grati FR, Calvello M, Peissel B, Burn J, Pensotti V, Allemani C, Sirchia SM, Radice P, Miozzo M. X chromosome inactivation pattern in BRCA gene mutation carriers. European Journal of Cancer 2013, 49(5), 1136-1141.