Human Genetics Unit: Staff Papers 2011

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1. Aldhous MC, Soo K, Stark LA, Ulanicka AA, Easterbrook JE, Dunlop MG, Satsangi J: Cigarette smoke extract (CSE) delays NOD2 expression and affects NOD2/RIPK2 interactions in intestinal epithelial cells
   PLoS One 6:e24715, 2011
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2. Anastasaki, C.; Longman, D.; Capper, A.; Patton, E.E. and Caceres, J.F. Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafish.
   Nucleic Acids Res 39(9):3686-94, 2011
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3. Artigas MS, Loth DW, Wain LV, Gharib SA.... JH, Smith AV, Huffman JE, Albrecht E, Jackson CM, Evans DM, Cadby G, Fornage M, Manichaikul A, Lopez LM, Johnson T, Aldrich MC, Aspelund T, Barroso I, Campbell H, Cassano PA, ........Hankinson JL, Hardy R, Harris SE, Henderson J, Henry A, Hingorani AD, Hofman A, Holt PG, Hui J, Hunter ML, Imboden M, Jameson KA, Kerr SM, Kolcic I, Kronenberg F, Liu JZ, Marchini J, McKeever T, Morris AD, Olin AC, Porteous DJ, Postma DS, Rich SS, Ring SM, Rivadeneira F, Rochat T, Sayer AA, Sayers I, ............Rantanen T, Ripatti S, Rotter JI, Rudan I, Rudnicka AR, Schulz H, Shin SY, Spector TD, Surakka I, Vitart V, .....Wright AF, Zgaga L, Zemunik T, Pennell CE, Nyberg F, Kuh D, Holloway JW, Boezen HM, Lawlor DA, Morris RW, Probst-Hensch N, Kaprio J, Wilson JF, Hayward C, ......, Strachan DP, London SJ, Hall IP, Gudnason V, Tobin MD: Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function
   Nat Genet 43:1082-1090, 2011.
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4. Andersen, K.M.; Jensen, C.; Kriegenburg, F.; Lauridsen, A.M.; Gordon, C. and Hartmann-Petersen, R. Txl1 and Txc1 are co-factors of the 26S proteasome in fission yeast. Antioxid.Redox.Signal. 14(9):1601-1608, 2011
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5. Belbin, O.; Carrasquillo, M.M.; Crump, M.; Culley, O.J.; Hunter, T.A.; Ma, L.; Bisceglio, G.; Zou, F.; Allen, M.; Dickson, D.W.; Graff-Radford, N.R.; Petersen, R.C.; Morgan, K. and Younkin, S.G. Investigation of 15 of the top candidate genes for late-onset Alzheimer's disease. Hum Genet 129(3):273-282, 2011
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6. Bem, D.; Yoshimura, S.; Nunes-Bastos, R.; Bond, F.F.; Kurian, M.A.; Rahman, F.; Handley, M.T.; Hadzhiev, Y.; Masood, I.; Straatman-Iwanowska, A.A.; Cullinane, A.R.; McNeill, A.; Pasha, S.S.; Kirby, G.A.; Foster, K.; Ahmed, Z.; Morton, J.E.; Williams, D.; Graham, J.M.; Dobyns, W.B.; Burglen, L.; Ainsworth, J.R.; Gissen, P.; Muller, F.; Maher, E.R.; Barr, F.A. and Aligianis, I.A. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet 88(4):499-507, 2011
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7. Berry, R.; Harewood, L.; Pei, L.; Fisher, M.; Brownstein, D.; Ross, A.; Alaynick, W.A.; Moss, J.; Hastie, N.D.; Hohenstein, P.; Davies, J.A.; Evans, R.M. and Fitzpatrick, D.R. Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla.
   Hum.Mol Genet. 20(5):917-926, 2011 PubMed Abstract
   
   
8. Bicknell, L.S.; Bongers, E.M.; Leitch, A.; Brown, S.; Schoots, J.; Harley, M.E.; Aftimos, S.; Al Aama, J.Y.; Bober, M.; Brown, P.A.; van Bokhoven, H.; Dean, J.; Edrees, A.Y.; Feingold, M.; Fryer, A.; Hoefsloot, L.H.; Kau, N.; Knoers, N.V.; Mackenzie, J.; Opitz, J.M.; Sarda, P.; Ross, A.; Temple, I.K.; Toutain, A.; Wise, C.A.; Wright, M. and Jackson, A.P. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat.Genet 43(4):356-9, 2011
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9. Bicknell, L.S.; Walker, S.; Klingseisen, A.; Stiff, T.; Leitch, A.; Kerzendorfer, C.; Martin, C.A.; Yeyati, P.; Al Sanna, N.; Bober, M.; Johnson, D.; Wise, C.; Jackson, A.P.; O'Driscoll, M. and Jeggo, P.A. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat.Genet 43(4):350-5, 2011
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10. Bis JC, Kavousi M, Franceschini N, Isaacs A, Abecasis GR, Schminke U, Post WS, Smith AV, Cupples LA, Markus HS, Schmidt R, Huffman JE, Lehtimaki T, Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque
    Nat Genet 43:940-947, 2011.
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11. Boehm, B.; Rautschka, M.; Quintana, L.; Raspopovic, J.; Jan, Z. and Sharpe, J. A landmark-free morphometric staging system for the mouse limb bud. Development 138(6):1227-1234, 2011
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12. Boger, C.A.; Chen, M.H.; Tin, A.; Olden, M.; Kottgen, A.; de Boer, I.H.; Fuchsberger, C.; O'Seaghdha, C.M.; Pattaro, C.; Teumer, A.; Liu, C.T.; Glazer, N.L.; Li, M.; O'Connell, J.R.; Tanaka, T.; Peralta, C.A.; Kutalik, Z.; Luan, J.; Zhao, J.H.; Hwang, S.J.; Akylbekova, E.; .......Campbell, H.; Vitart, V.; Hastie, N.D.; Gudnason, V.; Kardia, S.L.; Liu, Y.; Polasek, O.; Curhan, G.; Kronenberg, F.; Prokopenko, I.; Rudan, I.; Arnlov, J.; Hallan, S.; Navis, G.; Parsa, A.; Ferrucci, L.; Coresh, J.; Shlipak, M.G.; Bull, S.B.; Paterson, N.J.; Wichmann, H.E.; Wareham, N.J.; Loos, R.J.; Rotter, J.I.; Pramstaller, P.P.; Cupples, L.A.; Beckmann, J.S.; Yang, Q.; Heid, I.M.; Rettig, R.; Dreisbach, A.W.; Bochud, M.; Fox, C.S. and Kao, W.H. CUBN is a gene locus for albuminuria. J Am Soc Nephrol 22(3):555-570, 2011
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13. Boyle S, Rodesch MJ, Halvensleben HA, Jeddeloh JA, Bickmore WA: Fluorescence in situ hybridization with high-complexity repeat-free oligonucleotide probes generated by massively parallel synthesis Chromosome Res 19:901-909, 2011.
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14. Brush J, Boyd K, Chappell F, Crawford F, Dozier M, Fenwick E, Glanville J, McIntosh H, Renehan A, Weller D, Dunlop M: The value of FDG positron emission tomography/computerised tomography (PET/CT) in pre-operative staging of colorectal cancer: a systematic review and economic evaluation
    Health Technol Assess 15:1-iv, 2011.
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15. Bubeck, D.; Reijns, M.A.; Graham, S.C.; Astell, K.R.; Jones, E.Y. and Jackson, A.P. PCNA directs type 2 RNase H activity on DNA replication and repair substrates. Nucleic Acids Res 39(9):3652-66, 2011
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16. Burn J, Gerdes AM, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JW, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJ, Vasen HF, Barker G, Crawford G, Elliott F, Movahedi M, Pylvanainen K, Wijnen JT, Fodde R, Lynch HT, Mathers JC, Bishop DT: Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
    Lancet 378:2081-2087, 2011.
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17. Burn, S.F.; Webb, A.; Berry, R.L.; Davies, J.A.; Ferrer-Vaquer, A.; Hadjantonakis, A.K.; Hastie, N.D. and Hohenstein, P. Calcium/NFAT signalling promotes early nephrogenesis. Dev.Biol. 352(2):288-98, 2011
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18. Carvajal-Carmona, L. G., Cazier, J. B., Jones, A. M., Howarth, K., Broderick, P., Pittman, A., Dobbins, S., Tenesa, A., Farrington, S., Prendergast, J., Theodoratou, E., Barnetson, R., Conti, D., Newcomb, P., Hopper, J. L., Jenkins, M. A., Gallinger, S., Duggan, D. J., Campbell, H., Kerr, D., Casey, G., Houlston, R., Dunlop, M., and Tomlinson, I. Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes
    5. Hum.Mol.Genet. 20(14), 2879-2888. 2011
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19. Chassot AA, Gregoire EP, Lavery R, Taketo MM, de Rooij DG, Adams IR, Chaboissier MC: RSPO1/beta-catenin signaling pathway regulates oogonia differentiation and entry into meiosis in the mouse fetal ovary
    PLoS One 6:e25641, 2011.
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20. Chambers EV, Kindt AS, Semple CA: Opening sequence: computational genomics in the era of high-throughput sequencing
    Genome Biol 12:310, 2011.
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21. Chau YY, Brownstein D, Mjoseng H, Lee WC, Buza-Vidas N, Nerlov C, Jacobsen SE, Perry P, Berry R, Thornburn A, Sexton D, Morton N, Hohenstein P, Freyer E, Samuel K, Van't Hof R, Hastie N: Acute multiple organ failure in adult mice deleted for the developmental regulator wt1
    PLoS Genet 7:e1002404, 2011.
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22. Chen W, Hayward C, Wright AF, Hicks AA, Vitart V, Knott S, Wild SH, Pramstaller PP, Wilson JF, Rudan I, Porteous DJ: Copy number variation across European populations.
    PLoS One 6:e23087, 2011.
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23. Clericuzio, C.; Hingorani, M.; Crolla, J.A.; van, H., V and Verloes, A. Clinical utility gene card for: WAGR syndrome. Eur.J Hum Genet 19(4), 2011
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24. Coutinho, P.; Pavlou, S.; Bhatia, S.; Chalmers, K.J.; Kleinjan, D.A. and Vanheyningen, V. Discovery and assessment of conserved Pax6 target genes and enhancers. Genome Res, 2011
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25. Cross, S.H.; McKie, L.; West, K.; Coghill, E.L.; Favor, J.; Bhattacharya, S.; Brown, S.D. and Jackson, I.J. The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype
    Hum.Mol Genet. 20(2):223-234, 2011 PubMed Abstract
    
    
26. Daniel, K.; Lange, J.; Hached, K.; Fu, J.; Anastassiadis, K.; Roig, I.; Cooke, H.J.; Stewart, A.F.; Wassmann, K.; Jasin, M.; Keeney, S. and Toth, A. Meiotic homologue alignment and its quality surveillance are controlled by mouse HORMAD1. Nat.Cell Biol 13(5):599-610, 2011
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27. Davies G, Tenesa A, Payton A, Yang J, Harris SE, Liewald D, Ke X, Le HS, Christoforou A, Luciano M, McGhee K, Lopez L, Gow AJ, Corley J, Redmond P, Fox HC, Haggarty P, Whalley LJ, McNeill G, Goddard ME, Espeseth T, Lundervold AJ, Reinvang I, Pickles A, Steen VM, Ollier W, Porteous DJ, Horan M, Starr JM, Pendleton N, Visscher PM, Deary IJ: Genome-wide association studies establish that human intelligence is highly heritable and polygenic.
    Mol Psychiatry 16:996-1005, 2011.
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28. Dehghan, A.; Dupuis, J.; Barbalic, M.; Bis, J.C.; Eiriksdottir, G.; Lu, C.; Pellikka, N.; Wallaschofski, H.; Kettunen, J.; Henneman, P.; Baumert, J.; Strachan, D.P.; Fuchsberger, C.; Vitart, V.; Wilson, J.F.; Pare, G.; Naitza, S.; Rudock, M.E.; Surakka, I.; de Geus, E.J.; Alizadeh, B.Z.; et al. Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple Loci for C-reactive protein levels. Circulation 123(7):731-738, 2011
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29. Demirkan, A.; Amin, N.; Isaacs, A.; Jarvelin, M.R.; Whitfield, J.B.; Wichmann, H.E.; Kyvik, K.O.; Rudan, I.; Gieger, C.; Hicks, A.A.; Johansson, A.; Hottenga, J.J.; Smith, J.J.; Wild, S.H.; Pedersen, N.L.; Willemsen, G.; Mangino, M.; Hayward, C.; Uitterlinden, A.G.; Hofman, A.; Witteman, J.; Montgomery, G.W.; Pietilainen, K.H.; Rantanen, T.; Kaprio, J.; Doring, A.; Pramstaller, P.P.; Gyllensten, U.; de Geus, E.J.; Penninx, B.W.; Wilson, J.F.; Rivadeneria, F.; Magnusson, P.K.; Boomsma, D.I.; Spector, T.; Campbell, H.; Hoehne, B.; Martin, N.G.; Oostra, B.A.; McCarthy, M.; Peltonen-Palotie, L.; Aulchenko, Y.; Visscher, P.M.; Ripatti, S.; Janssens, A.C. and van Duijn, C.M. Genetic architecture of circulating lipid levels. Eur.J Hum Genet 19(7):813-9 , 2011
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30. Diez-Roux, G.; Banfi, S.;….. Feng, G.; Milyaev, N.; Ong, C.K.; Kumar, L.; Lam, M.; Semple, C.A.; Gyenesei, A.; …….Davidson, D.R.; Dolle, P.; Antonarakis, S.E.; Yaspo, M.L.; Martinez, S.; Baldock, R.A.;…… and Ballabio, A. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol 9(1):e1000582, 2011 PubMed Abstract
    
    
31. Donaldson,L.R.; Wallace, S.; Haigh, D.; Patton, E.E. and Hulme, A.N. Rapid synthesis and zebrafish evaluation of a phenanthridine-based small molecule library. Organic & Biomolecular Chemistry
    9(7):2233-9, 2011
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32. Drake AJ, Liu L, Kerrigan D, Meehan RR, Seckl JR: Multigenerational programming in the glucocorticoid programmed rat is associated with generation-specific and parent of origin effects
    Epigenetics 6: 2011.
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33. Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, Bragg-Gresham JL, Teumer A, Glazer NL, Launer L, Zhao JH, Aulchenko Y, Heath S, Sober S, Parsa A, Luan J, Arora P, Dehghan A, Zhang F, Lucas G, Hicks AA, Jackson AU, Peden JF, Tanaka T, Wild SH, Rudan I, Igl W, Milaneschi Y, Parker AN, Fava C, et al: Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
    Nature 478:103-109, 2011.
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34. Eskeland, R.; Freyer, E.; Leeb, M.; Wutz, A. and Bickmore, W.A. Histone Acetylation and the Maintenance of Chromatin Compaction by Polycomb Repressive Complexes. Cold Spring Harb.Symp.Quant.Biol 75:71-8 , 2011
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35. Essafi A, Webb A, Berry RL, Slight J, Burn SF, Spraggon L, Velecela V, Martinez-Estrada OM, Wiltshire JH, Roberts SG, Brownstein D, Davies JA, Hastie ND, Hohenstein P: A Wt1-Controlled Chromatin Switching Mechanism Underpins Tissue-Specific Wnt4 Activation and Repression
    Dev Cell 2011
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36. Facheris, M.F.; Hicks, A.A.; Minelli, C.; Hagenah, J.M.; Kostic, V.; Campbell, S.; Hayward, C.; Volpato, C.B.; Pattaro, C.; Vitart, V.; Wright, A.; Campbell, H.; Klein, C. and Pramstaller, P.P. Variation in the Uric Acid Transporter Gene SLC2A9 and Its Association with AAO of Parkinson's Disease.
    J Mol.Neurosci. 30: 246-250 2011
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37. Fox, E.R.; Young, J.H.; Li, Y.; Dreisbach, A.W.; Keating, B.J.; Musani, S.K.; Liu, K.; Morrison, A.C.; Ganesh, S.; Kutlar, A.; Ramachandran, V.S.; Polak, J.F.; Fabsitz, R.R.; Dries, D.L.; Farlow, D.N.; Redline, S.; Adeyemo, A.; Hirschorn, J.N.; Sun, Y.V.; Wyatt, S.B.; Penman, A.D.; Palmas, W.; Rotter, J.I.; Townsend, R.R.; Doumatey, A.P.; Tayo, B.O.; Mosley, T.H., Jr.; Lyon, H.N.; Kang, S.J.; Rotimi, C.N.; Cooper, R.S.; Franceschini, N.; Curb, J.D.; Martin, L.W.; Eaton, C.B.; Kardia, S.L.; Taylor, H.A.; Caulfield, M.J.; Ehret, G.B.; Johnson, T.; Chakravarti, A.; Zhu, X. and Levy, D. Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. Hum Mol Genet 20(11):2273-2284, 2011
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38. Frank, R.A.; McRae, A.F.; Pocklington, A.J.; van de Lagemaat, L.N.; Navarro, P.; Croning, M.D.; Komiyama, N.H.; Bradley, S.J.; Challiss, R.A.; Armstrong, J.D.; Finn, R.D.; Malloy, M.P.; Maclean, A.W.; Harris, S.E.; Starr, J.M.; Bhaskar, S.S.; Howard, E.K.; Hunt, S.E.; Coffey, A.J.; Ranganath, V.; Deloukas, P.; Rogers, J.; Muir, W.J.; Deary, I.J.; Blackwood, D.H.; Visscher, P.M. and Grant, S.G. Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder. PLoS One. 6(4):e19011, 2011
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39. Gakovic M, Shu X, Kasioulis I, Carpanini S, Moraga I, Wright AF: The role of RPGR in cilia formation and actin stability
    Hum Mol Genet 20:4840-4850, 2011.
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40. Gaudet, P.; Bairoch, A.; Field, D.; Sansone, S.A.; Taylor, C.; Attwood, T.K.; Bateman, A.; Blake, J.A.; Bult, C.J.; Cherry, J.M.; Chisholm, R.L.; Cochrane, G.; Cook, C.E.; Eppig, J.T.; Galperin, M.Y.; Gentleman, R.; Goble, C.A.; Gojobori, T.; Hancock, J.M.; Howe, D.G.; Imanishi, T.; Kelso, J.; Landsman, D.; Lewis, S.E.; Mizrachi, I.K.; Orchard, S.; Ouellette, B.F.; Ranganathan, S.; Richardson, L.; Rocca-Serra, P.; Schofield, P.N.; Smedley, D.; Southan, C.; Tan, T.W.; Tatusova, T.; Whetzel, P.L.; White, O. and Yamasaki, C. Towards BioDBcore: a community-defined information specification for biological databases. Nucleic Acids Res 39(Database issue):D7-10, 2011
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41. Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, et al. New gene functions in megakaryopoiesis and platelet formation. Nature 480:201-208, 2011.
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42. Girdwood, D.; Xirodimas, D.P. and Gordon, C. The Essential Functions of NEDD8 Are Mediated via Distinct Surface Regions, and Not by Polyneddylation in Schizosaccharomyces pombe. PLoS One. 6(5):e20089, 2011
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43. Girotto, G.; Pirastu, N.; Sorice, R.; Biino, G.; Campbell, H.; d'Adamo, A.P.; Hastie, N.D.; Nutile, T.; Polasek, O.; Portas, L.; Rudan, I.; Ulivi, S.; Zemunik, T.; Wright, A.F.; Ciullo, M.; Hayward, C.; Pirastu, M. and Gasparini, P. Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways.  J Med Genet 48(6):369-74, 2011
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44. Gorgoni, B.; Richardson, W.A.; Burgess, H.M.; Anderson, R.C.; Wilkie, G.S.; Gautier, P.; Martins, J.P.; Brook, M.; Sheets, M.D. and Gray, N.K. Poly(A)-binding proteins are functionally distinct and have essential roles during vertebrate development. Proc.Natl.Acad.Sci U.S.A  108(19):7844-7849, 2011
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45. Guadix, J.A.; Ruiz-Villalba, A.; Lettice, L.; Velecela, V.; Munoz-Chapuli, R.; Hastie, N.D.; Perez-Pomares, J.M. and Martinez-Estrada, O.M. Wt1 controls retinoic acid signalling in embryonic epicardium through transcriptional activation of Raldh2. Development 138(6):1093-1097, 2011
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46. Guberman JM, Ai J, Arnaiz O, Baran J, Blake A, Baldock R, Chelala C, Croft D, Cros A, Cutts RJ, Di GA, Forbes S, Fujisawa T, Gadaleta E, Goodstein DM, Gundem G, Haggarty B, Haider S, Hall M, Harris T, Haw R, Hu S, Hubbard S, Hsu J, Iyer V, Jones P, Katayama T, Kinsella R, Kong L, Lawson D, Liang Y, Lopez-Bigas N, Luo J, Lush M, Mason J, Moreews F, Ndegwa N, Oakley D, Perez-Llamas C, Primig M, Rivkin E, Rosanoff S, Shepherd R, Simon R, Skarnes B, Smedley D, Sperling L, Spooner W, Stevenson P, Stone K, Teague J, Wang J, Wang J, Whitty B, Wong DT, Wong-Erasmus M, Yao L, Youens-Clark K, Yung C, Zhang J, Kasprzyk A: BioMart Central Portal: an open database network for the biological community
    Database (Oxford) 2011:bar041, 2011.
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47. Hamza TH, Chen H, Hill-Burns EM, Rhodes SL, Montimurro J, Kay DM, Tenesa A, Kusel VI, Sheehan P, Eaaswarkhanth M, Yearout D, Samii A, Roberts JW, Agarwal P, Bordelon Y, Park Y, Wang L, Gao J, Vance JM, Kendler KS, Bacanu SA, Scott WK, Ritz B, Nutt J, Factor SA, Zabetian CP, Payami H: Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee. PLoS Genet:e1002237, 2011.
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48. Han, L.; van Hemert, J.I. and Baldock, R.A. Automatically identifying and annotating mouse embryo gene expression patterns. Bioinformatics 27(8):1101-1107, 2011
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49. Harding, S.D. Armit, C.; Armstrong, J. Brennan, J. Cheng, Y. Haggarty, B. Houghton, D. Lloyd-Macgilp, S. Pi, X. Roochun, Y. Sharghi, M. Tindal, C. McMahon, A.P. Gottesman, B. Little, M.H. Georgas, K. Aronow, B.J. Potter, S.S. Brunskill, E.W. Southard-Smith, E.M. Mendelsohn, C. Baldock, R.A. Davies, J.A. and Davidson, D. The GUDMAP database - an online resource for genitourinary research. Development 138(13):2845-2853, 2011
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50. Hawrylycz, M.; Baldock, R.A.; Burger, A.; Hashikawa, T.; Johnson, G.A.; Martone, M.; Ng, L.; Lau, C.; Larsen, S.D.; Nissanov, J.; Puelles, L.; Ruffins, S.; Verbeek, F.; Zaslavsky, I. and Boline, J. Digital atlasing and standardization in the mouse brain. PLoS Comput.Biol 7(2):e1001065, 2011 PubMed Abstract
    
    
51. Hemani, G.; Theocharidis, A.; Wei, W. and Haley, C. EpiGPU: Exhaustive pairwise epistasis scans parallelised on consumer level graphics cards. Bioinformatics, 2011
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52. Hornblad, A.; Eriksson, A.U.; Sock, E.; Hill, R.E. and Ahlgren, U. Impaired spleen formation perturbs morphogenesis of the gastric lobe of the pancreas. PLoS One. 6(6):e21753, 2011
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53. Huang-Doran, I.; Bicknell, L.S.; Finucane, F.M.; Rocha, N.; Porter, K.M.; Tung, Y.C.; Szekeres, F.; Krook, A.; Nolan, J.J.; O'Driscoll, M.; Bober, M.; O'Rahilly, S.; Jackson, A.P. and Semple, R.K. Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes 60(3):925-935, 2011
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54. Huffman JE, Knezevic A, Vitart V, Kattla J, Adamczyk B, Novokmet M, Igl W, Pucic M, Zgaga L, Johannson A, Redzic I, Gornik O, Zemunik T, Polasek O, Kolcic I, Pehlic M, Koeleman CA, Campbell S, Wild SH, Hastie ND, Campbell H, Gyllensten U, Wuhrer M, Wilson JF, Hayward C, Rudan I, Rudd PM, Wright AF, Lauc G: Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults
    Hum Mol Genet 2011. epub
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55. Igl, W.; Polasek, O.; Gornik, O.; Knezevic, A.; Pucic, M.; Novokmet, M.; Huffman, J.; Gnewuch, C.; Liebisch, G.; Rudd, P.M.; Campbell, H.; Wilson, J.F.; Rudan, I.; Gyllensten, U.; Schmitz, G. and Lauc, G. Glycomics meets lipidomics-associations of N-glycans with classical lipids, glycerophospholipids, and sphingolipids in three European populations. Mol Biosyst. 7(6):1852-1862, 2011
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56. Kalay, E.; Yigit, G.; Aslan, Y.; Brown, K.E.; Pohl, E.; Bicknell, L.S.; Kayserili, H.; Li, Y.; Tuysuz, B.; Nurnberg, G.; Kiess, W.; Koegl, M.; Baessmann, I.; Buruk, K.; Toraman, B.; Kayipmaz, S.; Kul, S.; Ikbal, M.; Turner, D.J.; Taylor, M.S.; Aerts, J.; Scott, C.; Milstein, K.; Dollfus, H.; Wieczorek, D.; Brunner, H.G.; Hurles, M.; Jackson, A.P.; Rauch, A.; Nurnberg, P.; Karaguzel, A. and Wollnik, B. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat.Genet. 43(1):23-26, 2011 PubMed Abstract
    
    
57. Katz, E.; Dubois-Marshall, S.; Sims, A.H.; Gautier, P.; Caldwell, H.; Meehan, R.R. and Harrison, D.J. An In Vitro Model That Recapitulates the Epithelial to Mesenchymal Transition (EMT) in Human Breast Cancer. PLoS One. 6(2):e17083, 2011
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58. Keane TM, Goodstadt L, Danecek P, White MA, Wong K, Yalcin B, Heger A, Agam A, Slater G, Goodson M, Furlotte NA, Eskin E, Nellaker C, Whitley H, Cleak J, Janowitz D, Hernandez-Pliego P, Edwards A, Belgard TG, Oliver PL, McIntyre RE, Bhomra A, Nicod J, Gan X, Yuan W, van der Weyden L, Steward CA, Bala S, Stalker J, Mott R, Durbin R, Jackson IJ, Czechanski A, Guerra-Assuncao JA, Donahue LR, Reinholdt LG, Payseur BA, Ponting CP, Birney E, Flint J, Adams DJ: Mouse genomic variation and its effect on phenotypes and gene regulation. Nature 477(7364):289-294, 2011. PubMed Abstract
    
    
59. Keegan LP, McGurk L, Palavicini JP, Brindle J, Paro S, Li X, Rosenthal JJ, O'Connell MA: Functional conservation in human and Drosophila of Metazoan ADAR2 involved in RNA editing: loss of ADAR1 in insects
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60. Kilpelainen, T.O, Zillikens, M.C. Stancakova, A., Finucane, F.M., Ried, J.S. Langenberg, C, Zhang, W.; Beckmann, J.S.; Luan, J, Vandenput, L., Styrkarsdottir, U. Zhou, Y, Smith, A.V. et al. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat.Genet 43(8):753-760, 2011
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61. Kornfeld JW, Isaacs A, Vitart V, Pospisilik JA, Meitinger T, Gyllensten U, Wilson JF, Rudan I, Campbell H, Penninger JM, Sexl V, Moriggl R, van DC, Pramstaller PP, Hicks AA: Variants in STAT5B Associate with Serum TC and LDL-C Levels. J Clin Endocrinol Metab 96(9):E1496-E1501, 2011.
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62. Le Masson, F.; Razak, Z.; Kaigo, M.; Audouard, C.; Charry, C.; Cooke, H.; Westwood, J.T. and Christians, E.S. Identification of Heat Shock Factor 1 Molecular and Cellular Targets during Embryonic and Adult Female Meiosis. Mol Cell Biol 31(16):3410-3423, 2011
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63. Lettice LA, Daniels S, Sweeney E, Venkataraman S, Devenney PS, Gautier P, Morrison H, Fantes J, Hill RE, FitzPatrick DR: Enhancer-adoption as a mechanism of human developmental disease. Hum Mutat 32:1492-1499, 2011
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64. Leung, J.W.; Leitch, A.; Wood, J.L.; Shaw-Smith, C.; Metcalfe, K.; Bicknell, L.S.; Jackson, A.P. and Chen, J. Set protein associates with microcephalin/MCPH1 and regulates chromosome condensation. J Biol Chem 286(24):21393-400, 2011
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65. Li A, Ma Y, Yu X, Mort RL, Lindsay CR, Stevenson D, Strathdee D, Insall RH, Chernoff J, Snapper SB, Jackson IJ, Larue L, Sansom OJ, Machesky LM: Rac1 Drives Melanoblast Organization during Mouse Development by Orchestrating Pseudopod- Driven Motility and Cell-Cycle Progression
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66. Lindsay CR, Lawn S, Campbell AD, Faller WJ, Rambow F, Mort RL, Timpson P, Li A, Cammareri P, Ridgway RA, Morton JP, Doyle B, Hegarty S, Rafferty M, Murphy IG, McDermott EW, Sheahan K, Pedone K, Finn AJ, Groben PA, Thomas NE, Hao H, Carson C, Norman JC, Machesky LM, Gallagher WM, Jackson IJ, Van KL, Beermann F, Der C, Larue L, Welch HC, Ozanne BW, Sansom OJ: P-Rex1 is required for efficient melanoblast migration and melanoma metastasis
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67. Loughery, J.E.; Dunne, P.D.; O'Neill, K.M.; Meehan, R.R.; McDaid, J.R. and Walsh, C.P. DNMT1 deficiency triggers mismatch repair defects in human cells through depletion of repair protein levels in a process involving the DNA damage response. Hum Mol Genet 20(16):3241-3255, 2011
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65. Luciano, M.; Hansell, N.K.; Lahti, J.; Davies, G.; Medland, S.E.; Raikkonen, K.; Tenesa, A.; Widen, E.; McGhee, K.A.; Palotie, A.; Liewald, D.; Porteous, D.J.; Starr, J.M.; Montgomery, G.W.; Martin, N.G.; Eriksson, J.G.; Wright, M.J. and Deary, I.J. Whole genome association scan for genetic polymorphisms influencing information processing speed. Biol Psychol. 86(3):193-202, 2011
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66. Lynch, S.A.; Foulds, N.; Thuresson, A.C.; Collins, A.L.; Anneren, G.; Hedberg, B.O.; Delaney, C.A.; Iremonger, J.; Murray, C.M.; Crolla, J.A.; Costigan, C.; Lam, W.; Fitzpatrick, D.R.; Regan, R.; Ennis, S. and Sharkey, F. The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. Eur.J Hum Genet 19(5):534-539, 2011
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67. Madsen L, Kriegenburg F, Vala A, Best D, Prag S, Hofmann K, Seeger M, Adams IR, Hartmann-Petersen R: The tissue-specific Rep8/UBXD6 tethers p97 to the endoplasmic reticulum membrane for degradation of misfolded proteins. PLoS One 6:e25061, 2011.
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68. Macmillan D, De CM, Reynolds NL, Santos LF, Barran PE, Dorin JR: Synthesis of cyclic peptides through an intramolecular amide bond rearrangement. Chembiochem 12:2133-2136, 2011.
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69. McKay GJ, Patterson CC, Chakravarthy U, Dasari S, Klaver CC, Vingerling JR, Ho L, De Jong PT, Fletcher AE, Young IS, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Hingorani AD, Sofat R, Dean M, Sawitzke J, Seddon JM, Peter I, Webster AR, Moore AT, Yates JR, Cipriani V, Fritsche LG, Weber BH, Keilhauer CN, Lotery AJ, Ennis S, Klein ML, Francis PJ, Stambolian D, Orlin A, Gorin MB, Weeks DE, Kuo CL, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Wright AF, Hayward C, Baird PN, Guymer RH, Attia J, Thakkinstian A, Silvestri G: Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat 32:1407-1416, 2011.
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70. Marcucci R, Brindle J, Paro S, Casadio A, Hempel S, Morrice N, Bisso A, Keegan LP, Del SG, O'Connell MA: Pin1 and WWP2 regulate GluR2 Q/R site RNA editing by ADAR2 with opposing effects.
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71. Massault, C.; Franch, R.; Haley, C.; De Koning, D.J.; Bovenhuis, H.; Pellizzari, C.; Patarnello, T. and Bargelloni, L. Quantitative trait loci for resistance to fish pasteurellosis in gilthead sea bream (Sparus aurata). Anim Genet 42(2):191-203, 2011
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72. McKay, G.J.; Silvestri, G.; Chakravarthy, U.; Dasari, S.; Fritsche, L.G.; Weber, B.H.; Keilhauer, C.N.; Klein, M.L.; Francis, P.J.; Klaver, C.C.; Vingerling, J.R.; Ho, L.; De Jong, P.T.; Dean, M.; Sawitzke, J.; Baird, P.N.; Guymer, R.H.; Stambolian, D.; Orlin, A.; Seddon, J.M.; Peter, I.; Wright, A.F.; Hayward, C.; Lotery, A.J.; Ennis, S.; Gorin, M.B.; Weeks, D.E.; Kuo, C.L.; Hingorani, A.D.; Sofat, R.; Cipriani, V.; Swaroop, A.; Othman, M.; Kanda, A.; Chen, W.; Abecasis, G.R.; Yates, J.R.; Webster, A.R.; Moore, A.T.; Seland, J.H.; Rahu, M.; Soubrane, G.; Tomazzoli, L.; Topouzis, F.; Vioque, J.; Young, I.S.; Fletcher, A.E. and Patterson, C.C. Variations in Apolipoprotein E Frequency With Age in a Pooled Analysis of a Large Group of Older People. Am J Epidemiol.173(12):1357-64, 2011
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73. Mill, P.; Lockhart, P.J.; Fitzpatrick, E.; Mountford, H.S.; Hall, E.A.; Reijns, M.A.; Keighren, M.; Bahlo, M.; Bromhead, C.J.; Budd, P.; Aftimos, S.; Delatycki, M.B.; Savarirayan, R.; Jackson, I.J. and Amor, D.J. Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis. Am J Hum Genet 88(4):508-515, 2011
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74. Mitry, D.; Campbell, H.; Charteris, D.G.; Fleck, B.W.; Tenesa, A.; Dunlop, M.G.; Hayward, C.; Wright, A.F. and Vitart, V. SNP mistyping in genotyping arrays-an important cause of spurious association in case-control studies.
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75. Mitry, D.; Chalmers, J.; Anderson, K.; Williams, L.; Fleck, B.W.; Wright, A. and Campbell, H. Temporal trends in retinal detachment incidence in Scotland between 1987 and 2006. Br.J Ophthalmol. 95(3):365-369, 2011
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76. Mitry, D.; Williams, L.; Charteris, D.G.; Fleck, B.W.; Wright, A.F. and Campbell, H. Population-based estimate of the sibling recurrence risk ratio for rhegmatogenous retinal detachment. Invest Ophthalmol.Vis.Sci 52(5):2551-2555, 2011
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77. Mitry, D.; Singh, J.; Yorston, D.; Siddiqui, M.A.; Wright, A.; Fleck, B.W.; Campbell, H. and Charteris, D.G. The predisposing pathology and clinical characteristics in the Scottish retinal detachment study. Ophthalmology 118(7):1429-1434, 2011
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78. Obeidat, M.; Wain, L.V.; Shrine, N.; Kalsheker, N.; Artigas, M.S.; Repapi, E.; Burton, P.R.; Johnson, T.; Ramasamy, A.; Zhao, J.H.; Zhai, G.; Huffman, J.E.; Vitart, V.; Albrecht, E.; Igl, W.; Hartikainen, A.L.; Pouta, A.; Cadby, G.; Hui, J.; Palmer, L.J.; Hadley, D.; McArdle, W.L.; Rudnicka, A.R.; Barroso, I.; Loos, R.J.; Wareham, N.J.; Mangino, M.; Soranzo, N.; Spector, T.D.; Glaser, S.; Homuth, G.; Volzke, H.; Deloukas, P.; Granell, R.; Henderson, J.; Grkovic, I.; Jankovic, S.; Zgaga, L.; Polasek, O.; Rudan, I.; Wright, A.F.; Campbell, H.; Wild, S.H.; Wilson, J.F.; Heinrich, J.; Imboden, M.; Probst-Hensch, N.M.; Gyllensten, U.; Johansson, A.; Zaboli, G.; Mustelin, L.; Rantanen, T.; Surakka, I.; Kaprio, J.; Jarvelin, M.R.; Hayward, C.; Evans, D.M.; Koch, B.; Musk, A.W.; Elliott, P.; Strachan, D.P.; Tobin, M.D.; Sayers, I. and Hall, I.P. A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample. PLoS One. 6(5):e19382, 2011
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79. Oexle, K.; Ried, J.S.; Hicks, A.A.; Tanaka, T.; Hayward, C.; Bruegel, M.; Gogele, M.; Lichtner, P.; Muller-Myhsok, B.; Doring, A.; Illig, T.; Schwienbacher, C.; Minelli, C.; Pichler, I.; Fiedler, G.M.; Thiery, J.; Rudan, I.; Wright, A.F.; Campbell, H.; Ferrucci, L.; Bandinelli, S.; Pramstaller, P.P.; Wichmann, H.E.; Gieger, C.; Winkelmann, J. and Meitinger, T. Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
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80. Overton IM, Barton GJ: Computational approaches to selecting and optimising targets for structural biology. Methods 55:3-11, 2011.
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81. Overton, I.M.; van Niekerk, C.A. and Barton, G.J. XANNpred: Neural nets that predict the propensity of a protein to yield diffraction-quality crystals.
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82. Overton, I.M.; Graham, S.; Gould, K.A.; Hinds, J.; Botting, C.H.; Shirran, S.; Barton, G.J. and Coote, P.J. Global Network Analysis of Drug Tolerance, Mode of Action and Virulence in Methicillin-Resistant S. aureus. BMC Syst.Biol 5(1):68, 2011
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83. Palin K, Campbell H, Wright AF, Wilson JF, Durbin R: Identity-by-descent-based phasing and imputation in founder populations using graphical models. Genet Epidemiol 35:853-860, 2011.
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84. Pereira PN, Dobreva MP, Graham L, Huylebroeck D, Lawson KA, Zwijsen AN: Amnion formation in the mouse embryo: the single amniochorionic fold model. BMC Dev Biol 11:48, 2011.
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85. Polasek, O.; Leutenegger, A.L.; Gornik, O.; Zgaga, L.; Kolcic, I.; McQuillan, R.; Wilson, J.F.; Hayward, C.; Wright, A.F.; Lauc, G.; Campbell, H. and Rudan, I. Does inbreeding affect N-glycosylation of human plasma proteins? Mol Genet Genomics 285(5):427-432, 2011
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86. Prendergast JG, Semple CA: Widespread signatures of recent selection linked to nucleosome positioning in the human lineage
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87. Pucic M, Knezevic A, Vidic J, Adamczyk B, Novokmet M, Polasek O, Gornik O, Supraha-Goreta S, Wormald MR, Redzic I, Campbell H, Wright A, Hastie ND, Wilson JF, Rudan I, Wuhrer M, Rudd PM, Josic D, Lauc G: High throughput isolation and glycosylation analysis of IgG - variability and heritability of the IgG glycome in three isolated human populations Mol Cell Proteomics 2011.
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88. Rainger, J.; van Beusekom, E.; Ramsay, J.K.; McKie, L.; Al Gazali, L.; Pallotta, R.; Saponari, A.; Branney, P.; Fisher, M.; Morrison, H.; Bicknell, L.; Gautier, P.; Perry, P.; Sokhi, K.; Sexton, D.; Bardakjian, T.M.; Schneider, A.S.; Elcioglu, N.; Ozkinay, F.; Koenig, R.; Megarbane, A.; Semerci, C.N.; Khan, A.; Zafar, S.; Hennekam, R.; Sousa, S.B.; Ramos, L.; Garavelli, L.; Furga, A.S.; Wischmeijer, A.; Jackson, I.J.; Gillessen-Kaesbach, G.; Brunner, H.G.; Wieczorek, D.; van Bokhoven, H. and Fitzpatrick, D.R. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. PLoS Genet 7(7):e1002114, 2011
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89. Reijns, M.A.; Bubeck, D.; Gibson, L.C.; Graham, S.C.; Baillie, G.S.; Jones, E.Y. and Jackson, A.P. The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease. J Biol Chem 286(12):10530-10539, 2011
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90. Richardson, J.; Zeng, Z.; Ceol, C.; Mione, M.; Jackson, I.J. and Patton, E.E. A zebrafish model for nevus regeneration. Pigment Cell Melanoma Res 24(2):378-381, 2011
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91. Ringwald, M.; Iyer, V.; Mason, J.C.; Stone, K.R.; Tadepally, H.D.; Kadin, J.A.; Bult, C.J.; Eppig, J.T.; Oakley, D.J.; Briois, S.; Stupka, E.; Maselli, V.; Smedley, D.; Liu, S.; Hansen, J.; Baldock, R.; Hicks, G.G. and Skarnes, W.C. The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium
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92. Rizzi, T.S.; Arias-Vasquez, A.; Rommelse, N.; Kuntsi, J.; Anney, R.; Asherson, P.; Buitelaar, J.; Banaschewski, T.; Ebstein, R.; Ruano, D.; Van der, S.S.; Markunas, C.A.; Garrett, M.E.; Ashley-Koch, A.E.; Kollins, S.H.; Anastopoulos, A.D.; Hansell, N.K.; Wright, M.J.; Montgomery, G.W.; Martin, N.G.; Harris, S.E.; Davies, G.; Tenesa, A.; Porteous, D.J.; Starr, J.M.; Deary, I.J.; St Pourcain, B.; Davey, S.G.; Timpson, N.J.; Evans, D.M.; Gill, M.; Miranda, A.; Mulas, F.; Oades, R.D.; Roeyers, H.; Rothenberger, A.; Sergeant, J.; Sonuga-Barke, E.; Steinhausen, H.C.; Taylor, E.; Faraone, S.V.; Franke, B. and Posthuma, D. The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects. Am J Med Genet B Neuropsychiatr.Genet 156(2):145-157, 2011
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93. Ruzov A, Tsenkina Y, Serio A, Dudnakova T, Fletcher J, Bai Y, Chebotareva T, Pells S, Hannoun Z, Sullivan G, Chandran S, Hay DC, Bradley M, Wilmut I, De SP: Lineage-specific distribution of high levels of genomic 5-hydroxymethylcytosine in mammalian development
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94. Sakurai, K.; Amarzguioui, M.; Kim, D.H.; Alluin, J.; Heale, B.; Song, M.S.; Gatignol, A.; Behlke, M.A. and Rossi, J.J. A role for human Dicer in pre-RISC loading of siRNAs. Nucleic Acids Res 39(4):1510-1525, 2011
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95. Schramm, S.; Fraune, J.; Naumann, R.; Hernandez-Hernandez, A.; Hoog, C.; Cooke, H.J.; Alsheimer, M. and Benavente, R. A novel mouse synaptonemal complex protein is essential for loading of central element proteins, recombination, and fertility. PLoS Genet 7(5):e1002088, 2011
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96. Schwartz, A.G.; Wenzlaff, A.S.; Bock, C.H.; Ruterbusch, J.J.; Chen, W.; Cote, M.L.; Artis, A.S.; Van Dyke, A.L.; Land, S.J.; Harris, C.C.; Pine, S.R.; Spitz, M.R.; Amos, C.I.; Levin, A.M. and McKeigue, P.M. Admixture mapping of lung cancer in 1812 African-Americans. Carcinogenesis 32(3):312-317, 2011
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97. Semple F, MacPherson H, Webb S, Cox SL, Mallin LJ, Tyrrell C, Grimes GR, Semple CA, Nix MA, Millhauser GL, Dorin JR: Human beta-defensin 3 affects the activity of pro-inflammatory pathways associated with MyD88 and TRIF
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98. Shah, S.P.; Taylor, A.E.; Sowden, J.C.; Ragge, N.K.; Russell-Eggitt, I.; Rahi, J.S. and Gilbert, C.E. Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Invest Ophthalmol.Vis.Sci 52(1):558-564, 2011
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99. Sivakumaran S, Agakov F, Theodoratou E, Prendergast JG, Zgaga L, Manolio T, Rudan I, McKeigue P, Wilson JF, Campbell H: Abundant pleiotropy in human complex diseases and traits
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100. Shu, X.; Zeng, Z.; Gautier, P.; Lennon, A.; Gakovic, M.; Cheetham, M.E.; Patton, E.E. and Wright, A.F. Knockdown of the Zebrafish Ortholog of the Retinitis Pigmentosa 2 (RP2) Gene Results in Retinal Degeneration. Invest Ophthalmol.Vis.Sci 52(6):2960-2966, 2011
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101. Shu X, Luhmann UF, Aleman TS, Barker SE, Lennon A, Tulloch B, Chen M, Xu H, Jacobson SG, Ali R, Wright AF: Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration. PLoS One 6:e27433, 2011.
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102. Smith, N.L.; Huffman, J.E.; Strachan, D.P.; Huang, J.; Dehghan, A.; Trompet, S.; Lopez, L.M.; Shin, S.Y.; Baumert, J.; Vitart, V.; Bis, J.C.; Wild, S.H.; Rumley, A.; Yang, Q.; Uitterlinden, A.G.; Stott, D.J.; Davies, G.; Carter, A.M.; Thorand, B.; Polasek, O.; McKnight, B.; Campbell, H.; Rudnicka, A.R.; Chen, M.H.; Buckley, B.M.; Harris, S.E.; Peters, A.; Pulanic, D.; Lumley, T.; de Craen, A.J.; Liewald, D.C.; Gieger, C.; Campbell, S.; Ford, I.; Gow, A.J.; Luciano, M.; Porteous, D.J.; Guo, X.; Sattar, N.; Tenesa, A.; Cushman, M.; Slagboom, P.E.; Visscher, P.M.; Spector, T.D.; Illig, T.; Rudan, I.; Bovill, E.G.; Wright, A.F.; McArdle, W.L.; Tofler, G.; Hofman, A.; Westendorp, R.G.; Starr, J.M.; Grant, P.J.; Karakas, M.; Hastie, N.D.; Psaty, B.M.; Wilson, J.F.; Lowe, G.D.; O'Donnell, C.J.; Witteman, J.C.; Jukema, J.W.; Deary, I.J.; Soranzo, N.; Koenig, W. and Hayward, C. Genetic predictors of fibrin d-dimer levels in healthy adults. Circulation 123(17):1864-1872, 2011
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103. Smith RW, Anderson RC, Smith JW, Brook M, Richardson WA, Gray NK: DAZAP1, an RNA-binding protein required for development and spermatogenesis, can regulate mRNA translation. RNA 17:1282-1295, 2011.
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104. Snape, K.; Hanks, S.; Ruark, E.; Barros-Nunez, P.; Elliott, A.; Murray, A.; Lane, A.H.; Shannon, N.; Callier, P.; Chitayat, D.; Clayton-Smith, J.; Fitzpatrick, D.R.; Gisselsson, D.; Jacquemont, S.; Asakura-Hay, K.; Micale, M.A.; Tolmie, J.; Turnpenny, P.D.; Wright, M.; Douglas, J. and Rahman, N. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat.Genet 43(6):527-529, 2011
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105. Song, L.; Winter, A.G.; Selfridge, J. and Melton, D.W. A novel transcript for DNA repair gene Ercc1 in mouse skin
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106. Southgate, L.; Machado, R.D.; Snape, K.M.; Primeau, M.; Dafou, D.; Ruddy, D.M.; Branney, P.A.; Fisher, M.; Lee, G.J.; Simpson, M.A.; He, Y.; Bradshaw, T.Y.; Blaumeiser, B.; Winship, W.S.; Reardon, W.; Maher, E.R.; Fitzpatrick, D.R.; Wuyts, W.; Zenker, M.; Lamarche-Vane, N. and Trembath, R.C. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet 88(5):574-585, 2011
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107. Sproul, D.; Nestor, C.; Culley, J.; Dickson, J.H.; Dixon, J.M.; Harrison, D.J.; Meehan, R.R.; Sims, A.H. and Ramsahoye, B.H. Transcriptionally repressed genes become aberrantly methylated and distinguish tumors of different lineages in breast cancer. Proc.Natl.Acad.Sci U.S.A 108(11):4364-4369, 2011
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108. Stanton CM, Yates JR, den Hollander AI, Seddon JM, Swaroop A, Stambolian D, Fauser S, Hoyng C, Yu Y, Atsuhiro K, Branham K, Othman M, Chen W, Kortvely E, Chalmers K, Hayward C, Moore AT, Dhillon B, Ueffing M, Wright AF: Complement factor D in age-related macular degeneration
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109. Stevenson P, Richardson L, Venkataraman S, Yang Y, Baldock R: The BioMart interface to the eMouseAtlas gene expression database EMAGE. Database (Oxford) 2011:bar029, 2011.
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