Publications 2012

Pubmed


Human Genetics Unit: Staff Papers 2012


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  1. 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 meckelin-filamin A interaction mediates ciliogenesis. Hum Mol Genet 21:1272-, 2012.
    PubMed Abstract

  2. Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le CC, Prontera P, Raas-Rothschild A, Rogaia D, van BB, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, and Fagerberg CR. Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. Am. J. Med. Genet. A 158A: 2091-2099. 2012
    PubMed Abstract


  3. Allen M, Cox C, Belbin O, Ma L, Bisceglio GD, Wilcox SL, Howell CC, Hunter TA, Culley O, Walker LP, Carrasquillo MM, Dickson DW, Petersen RC, Graff-Radford NR, Younkin SG, Ertekin-Taner N: Association and heterogeneity at the GAPDH locus in Alzheimer's disease. Neurobiol Aging 33:203-233, 2012.
    PubMed Abstract

  4. Ameur A, Enroth S, Johansson A, Zaboli G, Igl W, Johansson AC, Rivas MA, Daly MJ, Schmitz G, Hicks AA, Meitinger T, Feuk L, van DC, Oostra B, Pramstaller PP, Rudan I, Wright AF, Wilson JF, Campbell H, Gyllensten U: Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids
    Am J Hum Genet 90:809-820, 2012
    PubMed Abstract

  5. Anderson E, Peluso S, Lettice LA, Hill RE: Human limb abnormalities caused by disruption of hedgehog signaling Trends Genet 2012.
    PubMed Abstract

  6. Armit C, Venkataraman S, Richardson L, Stevenson P, Moss J, Graham L, Ross A, Yang Y, Burton N, Rao J, Hill B, Rannie D, Wicks M, Davidson D, Baldock R: eMouseAtlas, EMAGE, and the spatial dimension of the transcriptome
    Mamm Genome 23:514-524, 2012.
    PubMed Abstract

  7. Baldock RA, Burger A: Biomedical atlases: systematics, informatics and analysis
    Adv Exp Med Biol 736:655-677, 2012.
    PubMed Abstract

  8. Barraud P, Heale BS, O'Connell MA, Allain FH: Solution structure of the N-terminal dsRBD of Drosophila ADAR and interaction studies with RNA
    Biochimie 94:1499-1509, 2012.
    PubMed Abstract

  9. Blakeley P, Overton IM, Hubbard SJ: Addressing statistical biases in nucleotide-derived protein databases for proteogenomic search strategies.
    J Proteome Res 11:5221-5234, 2012
    PubMed Abstract

  10. Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP: Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet A 158A:2719-2725, 2012.
    PubMed Abstract

  11. Boehringer J, Riedinger C, Paraskevopoulos K, Johnson EO, Lowe ED, Khoudian C, Smith D, Noble ME, Gordon C, Endicott JA: Structural and functional characterization of Rpn12 identifies residues required for Rpn10 proteasome incorporation. Biochem J 448:55-65, 2012.
    PubMed Abstract

  12. Boraska V, Day-Williams A, Franklin CS, Elliott KS, Panoutsopoulou K, Tachmazidou I, Albrecht E, Bandinelli S, Beilin LJ, Bochud M, Cadby G, Ernst F, Evans DM, Hayward C, Hicks AA, Huffman J, Huth C, James AL, .......Winsvold BS, Dedoussis GV, Kaprio J, Province MA, Zwart JA, Burnier M, Campbell H, Cusi D, Smith GD, Frayling TM, Gieger C, Palmer LJ, Pramstaller PP, Rudan I, Volzke H, Wichmann HE, Wright AF, Zeggini E: Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts
    PLoS One 7:e31369, 2012.
    PubMed Abstract

  13. Boraska V, Jeroncic A, Colonna V, .....Campbell H, Corre T, Erdmann J, Esko .....Warrington NM, Widen E, Willemsen G, Wright AF, Zanke BW, Zgaga L, Boehnke ....Gudnason V, Hayward C, Hengstenberg C, Hudson TJ, Jarvelin MR, Kogevinas M, Loos RJ, Martin NG, Metspalu A, ......Volzke H, Wareham NJ, Wichmann HE, Wilson JF, Rudan I, Xue Y, Zeggini E: Genome-wide meta-analysis of common variant differences between men and women. Hum Mol Genet 21:4805-4815, 2012.
    PubMed Abstract

  14. Brook M, McCracken L, Reddington JP, Lu ZL, Morrice NA, Gray NK: The multifunctional poly(A)-binding protein (PABP) 1 is subject to extensive dynamic post-translational modification, which molecular modelling suggests plays an important role in co-ordinating its activities
    Biochem J 441:803-812, 2012.

    PubMed Abstract

  15. Cabrera CP, Dunn IC, Fell M, Wilson PW, Burt DW, Waddington D, Talbot R, Hocking PM, Law A, Knott S, Haley CS, De Koning DJ: Complex traits analysis of chicken growth using targeted genetical genomics.
    Anim Genet 43:163-171, 2012.
    PubMed Abstract

  16. Cajal M, Lawson KA, Hill B, Moreau A, Rao J, Ross A, Collignon J, Camus A: Clonal and molecular analysis of the prospective anterior neural boundary in the mouse embryo. Development 139:423-436, 2012.
    PubMed Abstract

  17. Chasman DI, Fuchsberger C, Pattaro C, Teumer A, Boger CA, Endlich K, Olden M, ....Rao M, Hu F, Demirkan A, Oostra BA, de AM, Turner ST, Ding J, Andrews JS, ...... Wright AF, Campbell H, Ellinghaus D, Nothlings U, Jacobs G, Biffar R, Ernst F, ...........Hastie N, Vitart V, Helmer C, Wang JJ, Stengel B, Ruggiero D, Bergmann S, Kahonen M, Viikari J, Nikopensius T, Province M, Ketkar S, Colhoun H, Doney A, ...... Probst-Hensch NM, Kronenberg F, Toniolo D, Gudnason V, Shuldiner AR, .....Rudan I, Gyllensten U, Wilson JF, ....., Hayward C, Ridker PM, Parsa A, Bochud M, Heid IM, Kao WH, Fox CS, Kottgen A: Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet 2012.
    PubMed Abstract

  18. Chau YY and Hastie ND. The role of Wt1 in regulating mesenchyme in cancer, development, and tissue homeostasis
    Trends Genet. 28: 515-524.2012
    PubMed Abstract

  19. Chen D, Zhang Y, Yi Q, Huang Y, Hou H, Zhang Y, Hao Q, Cooke HJ, Li L, Sun Q, Shi Q: Regulation of Asymmetrical Cytokinesis by cAMP during Meiosis I in Mouse Oocytes
    PLoS One 7:e29735, 2012.
    PubMed Abstract

  20. Cipriani V, Matharu BK, Khan JC, Shahid H, Stanton CM, Hayward C, Wright AF, Bunce C, Clayton DG, Moore AT, Yates JR: Genetic variation in complement regulators and susceptibility to age-related macular degeneration
    Immunobiology 217:158-161, 2012.
    PubMed Abstract

  21. Colanesi S, Taylor KL, Temperley ND, Lundegaard PR, Liu D, North TE, Ishizaki H, Kelsh RN, Patton EE: Small molecule screening identifies targetable zebrafish pigmentation pathways
    Pigment Cell Melanoma Res 25:131-143, 2012.
    PubMed Abstract

  22. Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikainen LP, Fuchsberger C, ... Bidulescu A, Rasmussen-Torvik LJ, Greenwood CM, Ladouceur M, ..........Semple R, Teslovich TM, Allison MA, Redline S, Buxbaum SG, Mohlke KL, Dupuis J, Richards ...........T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jorgensen T, Kao WH, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, .........Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, ...Altshuler D, Boehnke M, McCarthy MI: Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet 8:e1002607, 2012.
    PubMed Abstract

  23. Davies JA, Little MH, Aronow B, Armstrong J, Brennan J, Lloyd-Macgilp S, Armit C, Harding S, Piu X, Roochun Y, Haggarty B, Houghton D, Davidson D, Baldock R: Access and Use of the GUDMAP Database of Genitourinary Development
    Methods Mol Biol 886:185-201, 2012.
    PubMed Abstract

  24. Davies JL, Cazier JB, Dunlop MG, Houlston RS, Tomlinson IP, and Holmes CC. A novel test for gene-ancestry interactions in genome-wide association data. PLoS. One. 7: e48687. 2012
    PubMed Abstract

  25. Deary IJ, Yang J, Davies G, Harris SE, Tenesa A, Liewald D, Luciano M, Lopez LM, Gow AJ, Corley J, Redmond P, Fox HC, Rowe SJ, Haggarty P, McNeill G, Goddard ME, Porteous DJ, Whalley LJ, Starr JM, Visscher PM: Genetic contributions to stability and change in intelligence from childhood to old age
    Nature 482:212-215, 2012.
    PubMed Abstract

  26. Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP, Liebisch G, Wilson JF, Johansson A, Rudan I, Aulchenko YS, .......... Huffman J, Hastie ND, Uitterlinden A, Franke L, Franklin CS, Vitart V, Nelson CP, Preuss M, Bis JC, O'Donnell CJ, Franceschini N, Witteman JC, Axenovich T, Oostra BA, Meitinger T, Hicks AA, Hayward C, Wright AF, Gyllensten U, Campbell H, Schmitz G: Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations
    PLoS Genet 8:e1002490, 2012.
    PubMed Abstract

  27. De Moor MH, Costa PT, Terracciano A, Krueger RF, de Geus EJ, Toshiko T, Penninx BW, Esko T, Madden PA, Derringer J, Amin N, Willemsen G, Hottenga JJ, Distel MA, Uda M, Sanna S, Spinhoven P, Hartman CA, Sullivan P, Realo A, Allik J, Heath AC, Pergadia ML, Agrawal A, Lin P, Grucza R, Nutile T, Ciullo M, Rujescu D, Giegling I, Konte B, Widen E, Cousminer DL, Eriksson JG, Palotie A, Peltonen L, Luciano M, Tenesa A, Davies G, Lopez LM, Hansell NK, Medland SE, Ferrucci L, Schlessinger D, Montgomery GW, Wright MJ, Aulchenko YS, Janssens AC, Oostra BA, Metspalu A, Abecasis GR, Deary IJ, Raikkonen K, Bierut LJ, Martin NG, van Duijn CM, Boomsma DI: Meta-analysis of genome-wide association studies for personality. Mol Psychiatry 17:337-349, 2012.
    PubMed Abstract

  28. de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van BY, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM: Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
    Eur J Hum Genet 20:598-606, 2012.
    PubMed Abstract

  29. Devonshire AS, Sanders R, Wilkes TM, Taylor MS, Foy CA, Huggett JF: Application of next generation qPCR and sequencing platforms to mRNA biomarker analysis
    Methods 2012.
    PubMed Abstract

  30. Din FV, Valanciute A, Houde VP, Zibrova D, Green KA, Sakamoto K, Alessi DR, Dunlop MG: Aspirin Inhibits mTOR Signaling, Activates AMP-Activated Protein Kinase, and Induces Autophagy in Colorectal Cancer Cells
    Gastroenterology 142:1504-1515, 2012.
    PubMed Abstract

  31. Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamidou E, Landau D, Wright AF, Holtzman EJ: Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. Nephrol Dial Transplant 27:1035-1041, 2012.
    PubMed Abstract

  32. di PM, Lao-Sirieix P, Boyle S, Cassidy A, Castillo D, Saadi A, Eskeland R, Fitzgerald RC: Evidence for a functional role of epigenetically regulated midcluster HOXB genes in the development of Barrett esophagus. Proc Natl Acad Sci U S A 109:9077-9082, 2012.
    PubMed Abstract

  33. Dostie J, Bickmore WA: Chromosome organization in the nucleus - charting new territory across the Hi-Cs. Curr Opin Genet Dev 2012.
    PubMed Abstract

  34. Douvaras P, Webb S, Whitaker DA, Dora N, Hill RE, Dorin JR, West JD: Rare corneal clones in mice suggest an age-related decrease of stem cell activity and support the limbal epithelial stem cell hypothesis
    Stem Cell Res 8:109-119, 2012.
    PubMed Abstract

  35. Drake AJ, McPherson RC, Godfrey KM, Cooper C, Lillycrop KA, Hanson MA, Meehan RR, Seckl JR, and Reynolds RM. An unbalanced maternal diet in pregnancy associates with offspring epigenetic changes in genes controlling glucocorticoid action and foetal growth. Clin. Endocrinol. (Oxf) 77: 808-815. 2012
    PubMed Abstract

  36. Dunlop MG, Tenesa A, Farrington SM, Ballereau S, Brewster DH, Koessler T, Pharoah P, Schafmayer C, Hampe J, Volzke H, Chang-Claude J, Hoffmeister M, Brenner H, von HS, Picelli S, Lindblom A, Jenkins MA, Hopper JL, Casey G, Duggan D, Newcomb PA, Abuli A, Bessa X, Ruiz-Ponte C, Castellvi-Bel S, Niittymaki I, Tuupanen S, Karhu A, Aaltonen L, Zanke B, Hudson T, Gallinger S, Barclay E, Martin L, Gorman M, Carvajal-Carmona L, Walther A, Kerr D, Lubbe S, Broderick P, Chandler I, Pittman A, Penegar S, Campbell H, Tomlinson I, Houlston RS: Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals
    Gut 2012.
    PubMed Abstract

  37. Dunlop MG, Dobbins SE, Farrington SM, Jones AM, Palles C, Whiffin N, Tenesa A, Spain S, Broderick P, Ooi LY, Domingo E, Smillie C, Henrion M, Frampton M, Martin L, Grimes G, Gorman M, Semple C, Ma YP, Barclay E, Prendergast J, Polychronis A, ..................PD, Potter V, Jephcott C, McAdam K, Wrigley J, Osborne R, Muthuramalingam S, O'Callaghan A, Bridgewater J, Melcher L, Braconi C, Geh JI, Palmer D, Narayana P, Steven N, Gaya A: Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk
    Nat Genet 2012.
    PubMed Abstract

  38. Endoh M, Endo TA, Endoh T, Isono K, Sharif J, Ohara O, Toyoda T, Ito T, Eskeland R, Bickmore WA, Vidal M, Bernstein BE, Koseki H: Histone H2A Mono-Ubiquitination Is a Crucial Step to Mediate PRC1-Dependent Repression of Developmental Genes to Maintain ES Cell Identity
    PLoS Genet 8:e1002774, 2012.
    PubMed Abstract

  39. Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT, Minster RL, Moayyeri A, .....Wilson JF, Aalto V, Alen M, Aragaki AK, Aspelund T, Center JR, Dailiana Z, .............., Rotter JI, Sigurdsson G, van Meurs JB, Verlaan D, Williams FM, Wood AR, Zhou Y, Gautvik KM, Pastinen T, Raychaudhuri S, Cauley JA, ......Eisman JA, Gudnason V, Hofman A, Jackson RD, Jones G, Jukema JW, Khaw KT, Lehtimaki T, Liu Y, ......Reeve J, Spector TD, Streeten EA, Zillikens MC, ..........Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP, Rivadeneira F: Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet 44:491-501, 2012.
    PubMed Abstract

  40. Fakhouri WD, Rhea L, Du T, Sweezer E, Morrison H, Fitzpatrick D, Yang B, Dunnwald M, Schutte BC: MCS9.7 Enhancer activity is highly, but not completely, associated with expression of Irf6 and p63 Dev Dyn 241:i, 2012.
    PubMed Abstract

  41. Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M, Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA, Borecki IB: Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. PLoS Genet 8:e1002695, 2012.
    PubMed Abstract

  42. Franceschini N, van Rooij FJ, Prins BP, Feitosa MF, Karakas M, Eckfeldt JH, ... Baumert J, Boraska V, Broer L, Hayward C, ...........Glazer NL, Kapur K, Kema IP, Lopez LM, Schillert A, ........Hofman A, Hsu FC, Kolcic I, Kraja A, Kubo M, Lackner KJ, Launer L, Loehr LR, Li G, Meisinger C, Takahashi A, Torlak V, Uitterlinden AG, Vitart V, ......., Campbell H, Deary IJ, ........Wilson JF, Witteman JC, Wolffenbuttel BH, Wright AF, Wu Q, Liu Y, Jenny NS, North KE, Felix JF, .... Perry JR, Morris AP: Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    Am J Hum Genet 91:744-753, 2012.
    PubMed Abstract

  43. Girdwood D, Robertson M, Gordon C: Constitutively active Cullin-RING-Ligases fail to rescue loss of NEDD8 conjugation in Schizosaccharomyces pombe
    FEBS Lett 586:1522-1528, 2012.
    PubMed Abstract

  44. Gutierrez-Gil B, Wiener P, Williams JL, Haley CS: Investigation of the genetic architecture of a bone carcass weight QTL on BTA6. Anim Genet 43:654-661, 2012.
    PubMed Abstract

  45. Gyenesei A, Moody J, Semple CA, Haley CS, Wei WH: High-throughput analysis of epistasis in genome-wide association studies with BiForce. Bioinformatics 28:1957-1964, 2012.
    PubMed Abstract

  46. Gyenesei A, Moody J, Laiho A, Semple CA, Haley CS, Wei WH: BiForce Toolbox: powerful high-throughput computational analysis of gene-gene interactions in genome-wide association studies.
    Nucleic Acids Res 40:W628-W632, 2012.
    PubMed Abstract

  47. Hackett JA, Reddington JP, Nestor CE, Dunican DS, Branco MR, Reichmann J, Reik W, Surani MA, Adams IR, Meehan RR: Promoter DNA methylation couples genome-defence mechanisms to epigenetic reprogramming in the mouse germline
    Development 139:3623-3632, 2012
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    PubMed Abstract

  48. Hamilton G, Harris SE, Davies G, Liewald DC, Tenesa A, Payton A, Horan MA, Ollier WE, Pendleton N, Starr JM, Porteous D, Deary IJ: The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk. Am J Med Genet B Neuropsychiatr Genet 2012.
    PubMed Abstract

  49. Handley MT and Aligianis IA. RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes. Biochem. Soc. Trans. 40: 1394-1397. 2012
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  50. Hekimoglu-Balkan B, Aszodi A, Heinen R, Jaritz M, Ringrose L: Intergenic Polycomb target sites are dynamically marked by non-coding transcription during lineage commitment. RNA Biol 9: 2012.
    PubMed Abstract

  51. Hingorani M, Hanson I, van Heyningen V: Aniridia
    Eur J Hum Genet 2012.
    PubMed Abstract

  52. Hu HY, He L, Fominykh K, Yan Z, Guo S, Zhang X, Taylor MS, Tang L, Li J, Liu J, Wang W, Yu H, Khaitovich P: Evolution of the human-specific microRNA miR-941. Nat Commun 3:1145, 2012.
    PubMed Abstract

  53. Huang WC, Wright AF, Roman AJ, Cideciyan AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG: RPGR-associated retinal degeneration in human X-linked RP and a murine model. Invest Ophthalmol Vis Sci 53:5594-5608, 2012.
    PubMed Abstract

  54. Husz ZL, Burton N, Hill B, Milyaev N, Baldock RA: Web tools for large-scale 3D biological images and atlases. BMC Bioinformatics 13:122, 2012.
    PubMed Abstract

  55. Illingworth RS, Botting CH, Grimes GR, Bickmore WA, Eskeland R: PRC1 and PRC2 are not required for targeting of H2A.Z to developmental genes in embryonic stem cells
    PLoS One 7:e34848, 2012.
    PubMed Abstract

  56. Jones AM, Beggs AD, Carvajal-Carmona L, Farrington S, Tenesa A, Walker M, Howarth K, Ballereau S, Hodgson SV, Zauber A, Bertagnolli M, Midgley R, Campbell H, Kerr D, Dunlop MG, Tomlinson IP: TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres
    Gut 61:248-254, 2012.
    PubMed Abstract

  57. Katz E, Sims AH, Sproul D, Caldwell H, Dixon MJ, Meehan RR, Harrison DJ: Targeting of Rac GTPases blocks the spread of intact human breast cancer. Oncotarget 3:608-619, 2012
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  58. Kinnersley B, Migliorini G, Broderick P, Whiffin N, Dobbins SE, Casey G, Hopper J, Sieber O, Lipton L, Kerr DJ, Dunlop MG, Tomlinson IP, Houlston RS: The TERT variant rs2736100 is associated with colorectal cancer risk. Br J Cancer 107:1001-1008, 2012.
    PubMed Abstract

  59. Kinsler VA, Abu-Amero S, Budd P, Jackson IJ, Ring SM, Northstone K, Atherton DJ, Bulstrode NW, Stanier P, Hennekam RC, Sebire NJ, Moore GE, Healy E: Germline Melanocortin-1-Receptor Genotype Is Associated with Severity of Cutaneous Phenotype in Congenital Melanocytic Nevi: A Role for MC1R in Human Fetal Development
    J Invest Dermatol 2012.
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  60. Lettice LA, Williamson I, Wiltshire JH, Peluso S, Devenney PS, Hill AE, Essafi A, Hagman J, Mort R, Grimes G, DeAngelis CL, Hill RE: Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly. Dev Cell 22:459-467, 2012.
    PubMed Abstract

  61. Li A, Ma Y, Jin M, Mason S, Mort RL, Blyth K, Larue L, Sansom OJ, Machesky LM: Activated Mutant NRas(Q61K) Drives Aberrant Melanocyte Signaling, Survival, and Invasiveness via a Rac1-Dependent Mechanism.
    J Invest Dermatol 132:2610-2621, 2012.
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  62. Lian G, Lu J, Hu J, Zhang J, Cross SH, Ferland RJ, Sheen VL: Filamin A Regulates Neural Progenitor Proliferation and Cortical Size through Wee1-Dependent Cdk1 Phosphorylation
    J Neurosci 32:7672-7684, 2012.
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  63. Lopez LM, Harris SE, Luciano M, Liewald D, Davies G, Gow AJ, Tenesa A, Payton A, Ke X, Whalley LJ, Fox H, Haggerty P, Ollier W, Pickles A, Porteous DJ, Horan MA, Pendleton N, Starr JM, Deary IJ: Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts. Eur J Hum Genet 20:341-347, 2012.
    PubMed Abstract

  64. Lopez LM, Bastin ME, Maniega SM, Penke L, Davies G, Christoforou A, Valdes Hernandez MC, Royle NA, Tenesa A, Starr JM, Porteous DJ, Wardlaw JM, Deary IJ: A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity
    Neurobiol Aging 33:1847, 2012.
    PubMed Abstract

  65. Luciano M, Huffman JE, Arias-Vasquez A, Vinkhuyzen AA, Middeldorp CM, Giegling I, Payton A, Davies G, Zgaga L, Janzing J, Ke X, Galesloot T, Hartmann AM, Ollier W, Tenesa A, Hayward C, Verhagen M, Montgomery GW, Hottenga JJ, Konte B, Starr JM, Vitart V, Vos PE, Madden PA, Willemsen G, Konnerth H, Horan MA, Porteous DJ, Campbell H, Vermeulen SH, Heath AC, Wright A, Polasek O, Kovacevic SB, Hastie ND, Franke B, Boomsma DI, Martin NG, Rujescu D, Wilson JF, Buitelaar J, Pendleton N, Rudan I, Deary IJ: Genome-wide association uncovers shared genetic effects among personality traits and mood states.
    Am J Med Genet B Neuropsychiatr Genet 2012.
    PubMed Abstract

  66. Lv L, Zhang T, Yi Q, Huang Y, Wang Z, Hou H, Zhang H, Zheng W, Hao Q, Guo Z, Cooke HJ, Shi Q: Tetraploid cells from cytokinesis failure induce aneuploidy and spontaneous transformation of mouse ovarian surface epithelial cells. Cell Cycle 11:2864-2875, 2012.
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  1. Macias S, Plass M, Stajuda A, Michlewski G, Eyras E, Caceres JF: DGCR8 HITS-CLIP reveals novel functions for the Microprocessor
    Nat Struct Mol Biol 19:760-766, 2012.
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  2. Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H, Rybin D, Liu CT, Bielak LF, Prokopenko I, Amin N, Barnes D, Cadby G, Hottenga JJ, Ingelsson E, Jackson AU, Johnson T, Kanoni S, Ladenvall C, Lagou V, Lahti J,.........Hayward C, Heath S, Hercberg S, Hicks AA, Hingorani A, Hofman A, Hui J, Hung J, Jarvelin MR, Jhun .....P, Kumari M, Kuusisto J, Kyvik KO, Laakso M, Lakka T, Lannfelt L, Lathrop GM, ......Uitterlinden AG, Uusitupa M, Vikstrom M, Vitart V, Vohl MC, Voight BF, .....Witteman JC, Wright AF, Yaghootkar H, Zelenika D, Zemunik T, Zgaga L, Wareham NJ, McCarthy MI, Barroso I, Watanabe RM, Florez JC, Dupuis J, Meigs JB, Langenberg C: A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    Nat Genet 44:659-669, 2012.
    PubMed Abstract

  3. Martin A, Maher S, Summerhurst K, Davidson D, Murphy P: Differential deployment of paralogous Wnt genes in the mouse and chick embryo during development. Evol Dev 14:178-195, 2012.
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  4. Mathers JC, Movahedi M, Macrae F, Dunlop M, Ho JW, Hodgson S, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side Bishop DT, Burn J: Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet Oncol 13:1242-1249, 2012.
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  5. McLeod K, Ferguson G, Burger A: Argudas: lessons for argumentation in biology based on a gene expression use case. BMC Bioinformatics 13 Suppl 1:S8, 2012.
    PubMed Abstract

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