Publications

Last updated: 13rd May 2013

ARTICLES IN PEER-REVIEWED JOURNALS

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  1. Forabosco P, Ramasamy A, Trabzuni D, Walker R, Smith C, Bras J, Levine AP, Hardy J, Pocock JM, Guerreiro R, Weale ME, Ryten M. Insights into TREM2 biology using whole genome network analysis of gene expression data from post-mortem human brain tissue (accepted in Neurobiology of Aging).
  2. Glass D*, Vinuela A*, Davies MN, Ramasamy A, Buil A, Brown AA, Parts L, Knowles D, Hedman AK, Grundberg E, Small KS, Nica AC, Ryten M, Keildson S, Weale ME, di Meglio P, Nestle FO, the MuTHER consortium, the UK Brain Expression consortium, McCarthy MI, Deloukos P, Dermitzakis ET, Bataille V, Spector TD (2012). Altered gene expression with adult ageing: a cross tissue comparison in skin, adipose, blood and brain tissues (accepted in Genome Biology).
  3. Kasperaviciute D*, Catarino CB*, Matarin M*, 8 authors, Ramasamy A, 55 authors, Sisodiya SM. Genome-wide association study implicates SCN1A in mesial temporal lobe epilepsy with hippocampal sclerosis (accepted in Brain).
  4. Trabzuni D*, Ryten M*, Ramasamy A, Walker R, Smith C, Lewis P.A, Mamais A, de Silva R, Vandrovcova J, International Parkinson Disease Genomics Consortium (IPDGC), Cai H, Schadt E, Wood NW, Bandopadhyay R, Weale ME, Hardy J and Plagnol V. Fine-mapping, gene expression and splicing analysis of the Parkinson’s disease associated LRRK2 locus (accepted in PLoS ONE).
  5. Ramasamy A, Trabzuni D, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Walker R, Smith C, Ilori GP, Shabalin AA, Li Y, Singleton AB, Cookson MR; for NABEC, Hardy J; for UKBEC, Ryten M, Weale ME. Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.Nucleic Acids Res. 2013 Feb 21. http://dx.doi.org/10.1093/nar/gkt069
  6. Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC; French Parkinson’s Disease Genetics Study Group and the International Parkinson’s Disease Genomics Consortium (IPDGC). The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson’s disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry. 2013 Feb 13. http://dx.doi.org/10.1136/jnnp-2012-304475
  7. Charlesworth G,  Plagnol V, Holmström KM, Bras J, Sheerin U-M, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Wood NW#, Bhatia KP#. Novel molecular mechanism in dystonia:Mutations in ANO3 are a cause of adult-onset cranio-cervical dystonia. Am J Hum Genet. 2012 S0002-9297(12)00586-1. http://dx.doi.org/10.1016/j.ajhg.2012.10.024
  8. Kumar A, Gibbs JR, Beilina A, Dillman A, Kumaran R, Trabzuni D, Ryten M, Walker R, Smith C, Traynor BJ, Hardy J, Singleton AB, Cookson MA. Age associated changes in gene expression in human brain and isolated neurons. Neurobiol Aging. 2012 S0197-4580(12)00532-5. http://dx.doi.org/10.1016/j.neurobiolaging.2012.10.021
  9. Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; the Alzheimer Genetic Analysis Group. TREM2 Variants in Alzheimer’s Disease. New England Journal of Medicine. 2012 Nov 14. http://dx.doi.org/10.1056/NEJMoa1211851
  10. Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs J, Mayeux R, Haines J, Farrer L, Pericak-Vance M, Schellenberg G, The Alzheimer’s Disease Genetics Consortium, Ramirez- Restrepo M, Engel A, Myers A, Corneveaux J, Huentelman M, Dillman A, Cookson M, Reiman E, Singleton A, Hardy J, Guerreiro R. Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk loci. Annals of Human Genetics 2013 Mar;77(2):85-105. http://dx.doi.org/10.1111/ahg.12000
  11. Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A; for the North American Brain Expression Consortium, Hardy J; for the UK Human Brain Expression Database, Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ, Pauls DL. Genome-wide association study of Tourette’s syndrome. Molecular Psychiatry. 2012 Aug 14. http://dx.doi.org/10.1038/mp.2012.69
  12. Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, Osiecki L, McGrath L, Haddad S, Crane J, Hezel D, Illman C, Mayerfeld C, Konkashbaev A, Liu C, Pluzhnikov A, Tikhomirov A, Edlund CK, Rauch SL, Moessner R, Falkai P, Maier W, Ruhrmann S, Grabe HJ, Lennertz L, Wagner M, Bellodi L, Cavallini MC, Richter MA, Cook EH Jr, Kennedy JL, Rosenberg D, Stein DJ, Hemmings SM, Lochner C, Azzam A, Chavira DA, Fournier E, Garrido H, Sheppard B, Umaña P, Murphy DL, Wendland JR, Veenstra-Vanderweele J, Denys D, Blom R, Deforce D, Van Nieuwerburgh F, Westenberg HG, Walitza S, Egberts K, Renner T, Miguel EC, Cappi C, Hounie AG, Conceição do Rosário M, Sampaio AS, Vallada H, Nicolini H, Lanzagorta N, Camarena B, Delorme R, Leboyer M, Pato CN, Pato MT, Voyiaziakis E, Heutink P, Cath DC, Posthuma D,  Smit JH, Samuels J, Bienvenu OJ, Cullen B, Fyer AJ, Grados MA, Greenberg BD, McCracken JT, Riddle MA, Wang Y, Coric V, Leckman JF, Bloch M, Pittenger C, Eapen V, Black DW, Ophoff RA, Strengman E, Cusi D, Turiel M, Frau F, Macciardi F, Gibbs JR, Cookson MR, Singleton A; for the North American Brain Expression Consortium, Hardy J; for the UK Brain Expression Database, Crenshaw AT, Parkin MA, Mirel DB, Conti DV, Purcell S, Nestadt G, Hanna GL, Jenike MA, Knowles JA, Cox N, Pauls DL. Genome-wide association study of obsessive-compulsive disorder. Mol Psychiatry. 2012 Aug 14. http://dx.doi.org/10.1038/mp.2012.85
  13. Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M. MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Human Molecular Genetics. 2012 Sep 15;21(18):4094-103. http://dx.doi.org/10.1093/hmg/dds238
  14. Patani R, Lewis PA, Trabzuni D, Puddifoot CA, Wyllie DJ, Walker R, Smith C, Hardingham GE, Weale M, Hardy J, Chandran S, Ryten M. Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis. Journal of Neurochemistry. 2012 Aug;122(4):738-51. http://dx.doi.org/10.1111/j.1471-4159.2012.07825.x
  15. Named collaborators in Bis JC, DeCarli C, Smith AV, van der Lijn F, Crivello F, Fornage M, Debette S, Shulman JM, Schmidt H, Srikanth V, Schuur M, Yu L, Choi SH, Sigurdsson S, Verhaaren BF, DeStefano AL, Lambert JC, Jack CR Jr, Struchalin M, Stankovich J, Ibrahim-Verbaas CA, Fleischman D, Zijdenbos A, den Heijer T, Mazoyer B, Coker LH, Enzinger C, Danoy P, Amin N, Arfanakis K, van Buchem MA, de Bruijn RF, Beiser A, Dufouil C, Huang J, Cavalieri M, Thomson R, Niessen WJ, Chibnik LB, Gislason GK, Hofman A, Pikula A, Amouyel P, Freeman KB, Phan TG, Oostra BA, Stein JL, Medland SE, Vasquez AA, Hibar DP, Wright MJ, Franke B, Martin NG, Thompson PM; Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium, Nalls MA, Uitterlinden AG, Au R, Elbaz A, Beare RJ, van Swieten JC, Lopez OL, Harris TB, Chouraki V, Breteler MM, De Jager PL, Becker JT, Vernooij MW, Knopman D, Fazekas F, Wolf PA, van der Lugt A, Gudnason V, Longstreth WT Jr, Brown MA, Bennett DA, van Duijn CM, Mosley TH, Schmidt R, Tzourio C, Launer LJ, Ikram MA, Seshadri S; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium. Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nature Genetics. 2012 Apr 15;44(5):545-51.  http://dx.doi.org/10.1038/ng.2237
  16. Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes AJ, Homuth G, Hottenga JJ, Langan C, Lopez LM, Hansell NK, Hwang KS, Kim S, Laje G, Lee PH, Liu X, Loth E, Lourdusamy A, Mattingsdal M, Mohnke S, Maniega SM, Nho K, Nugent AC, O’Brien C, Papmeyer M, Pütz B, Ramasamy A, Rasmussen J, Rijpkema M, Risacher SL, Roddey JC, Rose EJ, Ryten M, Shen L, Sprooten E, Strengman E, Teumer A, Trabzuni D, Turner J, van Eijk K, van Erp TG, van Tol MJ, Wittfeld K, Wolf C, Woudstra S, Aleman A, Alhusaini S, Almasy L, Binder EB, Brohawn DG, Cantor RM, Carless MA, Corvin A, Czisch M, Curran JE, Davies G, de Almeida MA, Delanty N, Depondt C, Duggirala R, Dyer TD, Erk S, Fagerness J, Fox PT, Freimer NB, Gill M, Göring HH, Hagler DJ, Hoehn D, Holsboer F, Hoogman M, Hosten N, Jahanshad N, Johnson MP, Kasperaviciute D, Kent JW Jr, Kochunov P, Lancaster JL, Lawrie SM, Liewald DC, Mandl R, Matarin M, Mattheisen M, Meisenzahl E, Melle I, Moses EK, Mühleisen TW, Nauck M, Nöthen MM, Olvera RL, Pandolfo M, Pike GB, Puls R, Reinvang I, Rentería ME, Rietschel M, Roffman JL, Royle NA, Rujescu D, Savitz J, Schnack HG, Schnell K, Seiferth N, Smith C, Steen VM, Valdés Hernández MC, Van den Heuvel M, van der Wee NJ, Van Haren NE, Veltman JA, Völzke H, Walker R, Westlye LT, Whelan CD, Agartz I, Boomsma DI, Cavalleri GL, Dale AM, Djurovic S, Drevets WC, Hagoort P, Hall J, Heinz A, Jack CR Jr, Foroud TM, Le Hellard S, Macciardi F, Montgomery GW, Poline JB, Porteous DJ, Sisodiya SM, Starr JM, Sussmann J, Toga AW, Veltman DJ, Walter H, Weiner MW; Alzheimer’s Disease Neuroimaging Initiative; EPIGEN Consortium; IMAGEN Consortium; Saguenay Youth Study Group, Bis JC, Ikram MA, Smith AV, Gudnason V, Tzourio C, Vernooij MW, Launer LJ, DeCarli C, Seshadri S; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium, Andreassen OA, Apostolova LG, Bastin ME, Blangero J, Brunner HG, Buckner RL, Cichon S, Coppola G, de Zubicaray GI, Deary IJ, Donohoe G, de Geus EJ, Espeseth T, Fernández G, Glahn DC, Grabe HJ, Hardy J, Hulshoff Pol HE, Jenkinson M, Kahn RS, McDonald C, McIntosh AM, McMahon FJ, McMahon KL, Meyer-Lindenberg A, Morris DW, Müller-Myhsok B, Nichols TE, Ophoff RA, Paus T, Pausova Z, Penninx BW, Potkin SG, Sämann PG, Saykin AJ, Schumann G, Smoller JW, Wardlaw JM, Weale ME, Martin NG, Franke B, Wright MJ, Thompson PM; Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium. Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics. 2012 Apr 15;44(5):552-61. http://dx.doi.org/10.1038/ng.2250
  17. Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, Gibbs JR, Ryten M, Arepalli S, Weale ME, Zonderman AB, Troncoso J, O’Brien R, Walker R, Smith C, Bandinelli S, Traynor BJ, Hardy J, Singleton AB, Cookson MR. Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiology of Disease. 2012 Jul;47(1):20-8. http://dx.doi.org/10.1016/j.nbd.2012.03.020
  18. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257-68. http://dx.doi.org/10.1016/j.neuron.2011.09.010
  19. Trabzuni D, Ryten M, Walker R, Smith C, Imran S, Ramasamy A, Weale ME, Hardy J. Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies. Journal of Neurochemistry. 2011 Oct;119(2):275-82. http://dx.doi.org/10.1111/j.1471-4159.2011.07432.x
  20. Devine MJ*, Kaganovich A*, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman JW, Hardy J, Marti-Masso JF, Healy D, Schapira AH, Wolozin B, Bandopadhyay R, Cookson MR, van der Brug MP, Lewis PA. Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue. PLOS One. 2011;6(7):e22489. http://dx.doi.org/10.1371/journal.pone.0022489
  21. International Parkinson’s Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2). A two-stage meta-analysis identifies several new loci for Parkinson’s disease. PLOS Genetics. 2011 Jun;7(6):e1002142. http://dx.doi.org/10.1371/journal.pgen.1002142
  22. International Parkinson Disease Genomics Consortium, Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simon-Sanchez J, Schulte C, Lesage S, Sveinbjornsdottir S, Stefansson K, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW. Imputation of sequence variants for identification of genetic risks for Parkinson’s disease: a meta-analysis of genome-wide association studies. Lancet. 2011 Feb 19;377(9766):641-9. http://dx.doi.org/10.1016/S0140-6736(10)62345-8
  23. Hardy J, Trabzuni D, Ryten M. Whole genome expression as a quantitative trait. Biochem Soc Trans. 2009 Dec;37(Pt 6):1276-7. http://dx.doi.org/10.1042/BST0371276
  24. Ryten M, Trabzuni D, Hardy J. Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases. Brief Funct Genomic Proteomic. 2009 May;8(3):194-8. Review. http://dx.doi.org/10.1093/bfgp/elp028

INVITED AND PEER-REVIEWED PRESENTATIONS IN INTERNATIONAL CONFERENCES

  1. Weale ME, Ramasamy A, Trabzuni D, Walker R, Smith C, Ryten M, Hardy J, UK Brain Expression Consortium (Nov 2012). Gene-level and exon-level expression QTL signals in the UK Brain Expression Consortium dataset. American Society of Human Genetics (accepted for oral presentation).
  2. Ramasamy A, Trabzuni D, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Walker R, Smith C, Shabalin AA, Li Y, Singleton AB, Cookson MR, Hardy J, Ryten M#, Weale ME#; North American Brain Expression Consortium and UK Brain Expression Consortium (Nov 2012). The impact of polymorphisms within probe sequence on expression QTL studies. American Society of Human Genetics (accepted for poster presentation).
  3. Trabzuni D (June 2012). The role of genetic variations on gene expression and splicing in multiple regions of control human post-mortem brain tissue. 4th International Conference on Quantitative Genetics, Edinburgh (accepted for oral presentation).
  4. Hardy J (???) John’s talk on MAPT or LRRK2 in New York (invited talk)
  5. Ryten M (May 2012). Transcriptomic Analysis of the Human Brain using Affymetrix Exon 1.0 ST Arrays. Europe-wide Medical Genomics Research Seminar Series hosted by Affymetrix Medical Genomics Research Programme. (invited talk)

* = Equal first authors

# = Equal last authors