Human Genetics Unit: Staff Papers 2008

Keyword Search

1. Baldock, R. A. and Burger, A. Anatomical Ontologies: Linking Names to Places in Biology. In: Anatomy Ontologies for Bioinformatics: Principles and Practice. Burger, A.; Davidson, D. and Baldock, R. (Eds.) Springer, 197-211, 2008
   
   
2. Baldock, R. and Davidson, D. The Edinburgh Mouse Atlas. In: Anatomy Ontologies for Bioinformatics: Principles and Practice. Burger, A.; Davidson, D. and Baldock, R. (Eds.) Springer, 249-265, 2008
   
   
3. Barnetson, R.A.; Cartwright, N.; van Vliet, A.; Haq, N.; Drew, K.; Farrington, S.; Williams, N.; Warner, J.; Campbell, H.; Porteous, M.E., and Dunlop, M.G. Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. Hum Mutat 29(3): 367-374, 2008 PubMed Abstract
   
   
4. Best, D.; Sahlender, D.A.; Walther, N.; Peden, A.A., and Adams, I.A. Sdmg1 is a conserved transmembrane protein associated with germ cell determination and germline-soma interactions in mice. Development 135:1415-1425, 2008 PubMed Abstract
   
   
5. Boot, M.J.; Westerberg, C.H.; Sanz-Ezquerro, J.; Cotterell, J.; Schweitzer, R.; Torres, M., and Sharpe, J. In vitro whole-organ imaging: 4D quantification of growing mouse limb buds.
   Nat Methods 5(7):609-612, 2008
   PubMed Abstract
   
   
6. Burger, A. and Bard, J. XSPAN--A Cross-Species Anatomy Network. In: Anatomy Ontologies for Bioinformatics: Principles and Practice. Burger, A.; Davidson, D. and Baldock, R. (Eds.) Springer, 163-175, 2008
   
   
7. Burger, A.; Davidson, D, and Baldock, R.(eds.)‚ Anatomy Ontologies for Bioinformatics: Principles and Practice. Springer, 2008
   
   
8. Burn, S.F.; Boot, M.J.; De Angelis, C.; Doohan, R.; Arques, C.G.; Torres, M., and Hill, R.E. The dynamics of spleen morphogenesis.
   Dev Biol 318:303-311, 2008
   Pubmed Abstract
   
   
9. Cenci, C.; Barzotti, R.; Galeano, F.; Corbelli, S.; Rota, R.; Massimi, L.; Di Rocco, C. O'Connell, M.A.and Gallo, A. Down-regulation of RNA editing in pediatric astrocytomas: ADARC editing activity inhabits cell migration and proliferation. Journal of Biological Chemistry 283(11):7251-7260, 2008
   PubMed Abstract
   
   
10. Chen, Y.; Doughman, Y.Q.; Gu, S.; Jarrell, A.; Aota, S.I.; Cvekl, A.; Watanabe, M.; Dunwoodie, S.L.; Johnson, R.S.; van Heyningen, V.; Kleinjan, D.A.; Beebe, D.C., and Yang, Y.C. Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis.
    Development 135(17):2939-48, 2008
    PubMed Abstract
    
    
11. Cotton, R.G.H.; Auerbach, A.D.; Beckmann, J.S.; Blumenfeld, O.O.; Brookes, A.J.; Brown, A.F.; Carrera, P.; Cox, D.W.; Gottlieb, B.; Greenblatt, M.S.; Hilbert, P.; Lehvaslaiho, H.; Liang, P.; Marsh, S.; Nebert, D.W.; Povey, S.; Rossetti, S.; Scriver, C.R.; Summar, M.; Tolan, D.R.; Verma, L.C.; Vihinen, M. and den Dunnen, J.T. Recommendations for Locus-Specific databases and Their Curation.
    Human Mutation 29(1):2-5, 2008
    PubMed Abstract
    
    
12. Daburon, V.; Mella, S.; Plouhinec, J.L.; Mazan, S.; Crozatier, M., and Vincent, A. The metazoan history of the COE transcription factors. Selection of a variant HLH motif by mandatory inclusion of a duplicated exon in vertebrates.
    BMC Evol Biol 8:131, 2008
    PubMed Abstract
    
    
13. Davidson, D. Time in Anatomy. In: Anatomy Ontologies for Bioinformatics: Principles and Practice. Burger, A.; Davidson, D. and Baldock, R. (Eds.) Springer, 213-247, 2008
    
    
14. Delaurier, A.; Burton, N.; Bennett, M.; Baldock, R.; Davidson, D.; Mohun, T.J. and Logan, M.P. The Mouse Limb Anatomy Atlas: an interactive 3D tool for studying embryonic limb patterning.
    BMC Dev Biol 8:83, 2008
    PubMed Abstract
    
    
15. Deutsch, E.W.; Ball, C.A.; Berman, J.J.; Bova, G.S.; Brazma, A.; Bumgarner, R.E.; Campbell, D.; Causton, H.C.; Christiansen, J.H.; Daian, F.; Dauga, D.; Davidson, D.R.; Gimenez, G.; Goo, Y.A.; Grimmond, S.; Henrich, T.; Herrmann, B.G.; Johnson, M.H.; Korb, M.; Mills, J.C.; Oudes, A.J.; Parkinson, H.E.; Pascal, L.E.; Pollet, N.; Quackenbush, J.; Ramialison, M.; Ringwald, M.; Salgado, D.; Sansone, S.A.; Sherlock, G.; Stoeckert, C.J., Jr.; Swedlow, J.; Taylor, R.C.; Walashek, L.; Warford, A.; Wilkinson, D.G.; Zhou, Y.; Zon, L.I.; Liu, A.Y., and True, L.D. Minimum information specification for in situ hybridization and immunohistochemistry experiments (MISFISHIE).
    Nat Biotechnol 26(3):305-312, 2008 PubMed Abstract
    
    
16. Dunican, D.S.; Ruzov, A.; Hackett, J.A., and Meehan, R.R. xDnmt1 regulates transcriptional silencing in pre-MBT Xenopus embryos independently of its catalytic function.
    Development 135(7):1295-1302, 2008 PubMed Abstract
    
    
17. Ellis, J.D.; Lleres, D.; Denegri, M.; Lamond, A.I., and Caceres, J.F. Spatial mapping of splicing factor complexes involved in exon and intron definition. Journal of Cell Biology 181(6):921-934, 2008
    PubMed Abstract
    
    
18. Fantes, J.A.; Boland, E.; Ramsay, J.; Donnai, D.; Splitt, M.; Goodship, J.A.; Stewart, H.; Whiteford, M.; Gautier, P.; Harewood, L.; Holloway, S.; Sharkey, F.; Maher, E.; van Heyningen, V.; Clayton-Smith, J.; Fitzpatrick, D.R. and Black, G.C. FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.
    Am J Hum Genet 82(4):916-926, 2008 PubMed Abstract
    
    
19. Finlan, L.E. and Bickmore, W.A. Porin new light onto chromatin and nuclear organisation.
    Genome Biology 9(5):222, 2008
    PubMed Abstract
    
    
20. Finlan, L.E.; Sproul, D.; Thomson, I.; Boyle, S.; Kerr, E.; Perry, P.; Ylstra, B.; Chubb, J.R., and Bickmore, W.A. Recruitment to the nuclear periphery can alter expression of genes in human cells.
    PLoS.Genet. 4(3): e1000039, 2008
    PubMed Abstract
    
    
21. Fisher, M.E.; Clelland, A.K.; Bain, A.; Baldock, R.A.; Murphy, P.; Downie, H.; Tickle, C.; Davidson, D.R. and Buckland, R.A. Integrating technologues for comparing 3D gene expression domains in developing chick limb. Developmental Biology 317(1):13-23, 2008
    PubMed Abstract
    
    
22. Francis-West, P. and Hill, R. Uncoupling the role of sonic hedgehog in limb development: growth and specification. Sci Signal 1(26):e34, 2008
    PubMed Abstract
    
    
23. Furniss, D.; Lettice, L. A.; Taylor, I. B.; Critchley, P. S.; Giele, H.; Hill, R. E., and Wilkie, A. O. A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.
    Hum Mol Genet 17(16):2417-2423, 2008 PubMed Abstract
    
    
24. Gautier, P.; Naranjo-Golborne, C.; Taylor, M. S.; Jackson, I. J. and Smyth, I. Expression of the fras1/frem gene family during zebrafish development and fin morphogenesis. Developmental Dynamics 237(11):3295-3304. 2008
    PubMed Abstract
    
    
25. Goobie, S.; Knijnenburg, J.; Fitzpatrick, D.; Sharkey, F.H.; Lionel, A.C.; Marshall, C.R.; Azam, T.; Shago, M.; Chong, K.; Mendoza-Londono, R.; den Hollander, N.S.; Ruivenkamp, C.; Maher, E.; Tanke, H.J.; Szuhai, K.; Wintle, R.F. and Scherer, S.W. Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. Cytogenet.Genome Res 123(1-4):65-78, 2008
    PubMed Abstract
    
    
26. Griffith, E.; Walker, S.; Martin, C.A.; Vagnarelli, P.; Stiff, T.; Vernay, B.; Al Sanna, N.; Saggar, A.; Hamel, B.; Earnshaw, W.C.; Jeggo, P.A.; Jackson, A.P., and O'Driscoll, M. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
    Nat Genet 40(2): 232-236, 2008
    PubMed Abstract
    
    
27. Hajihosseini, M.K.; De Langhe, S.; Lana-Elola, E.; Morrison, H.; Sparshott, N.; Kelly, R.; Sharpe, J.; Rice, D., and Bellusci, S. Localization and fate of Fgf10-expressing cells in the adult mouse brain implicate Fgf10 in control neurogenesis. Molecular and Cellular Neuroscience 37:857-868, 2008
    Pubmed Abstract
    
    
28. Hamer, G.; Wang, H.; Bolcun-Filas, E.; Cooke, H.J.; Benavente, R., and Hoog, C. Progression of meiotic recombination requires structural maturation of the central element of the synaptonemal complex. J Cell Sci 121:2445-2451, 2008 PubMed Abstract
    
    
29. Hastie, N. and Chakravarti, A. Genetics of disease. Curr.Opin.Genet.Dev. 18(3):227-228, 2008
    PubMed Abstract
    
    
30. Hohenstein, P.; Slight, J.; Ozdemir, D.; Burn, S.F.; Berry, R. and Hastie, N.D. High-efficiency Rosa26 knock-in vector construction for Cre-regulated overexpression and RNAi.
    PathoGenetics 1:3, 2008
    PubMed Abstract
    
    
31. Houlston, R.S.; Webb, E.; Broderick, P.; Pittman, A.M.; Di Bernardo, M.C.; Lubbe, S.; Chandler, I.; Vijayakrishnan, J.; Sullivan, K.; Penegar, S.; Carvajal-Carmona, L.; Howarth, K.; Jaeger, E.; Spain, S.L.; Walther, A.; Barclay, E.; Martin, L.; Gorman, M.; Domingo, E.; Teixeira, A.S.; Kerr, D.; Cazier, J.B.; Niittymaki, I.; Tuupanen, S.; Karhu, A.; Aaltonen, L.A.; Tomlinson, I.P.; Farrington, S.M.; Tenesa, A.; Prendergast, J.G.; Barnetson, R.A.; Cetnarskyj, R.; Porteous, M.E.; Pharoah, P.D.; Koessler, T.; Hampe, J.; Buch, S.; Schafmayer, C.; Tepel, J.; Schreiber, S.; Volzke, H.; Chang-Claude, J.; Hoffmeister, M.; Brenner, H.; Zanke, B.W.; Montpetit, A.; Hudson, T.J.; Gallinger, S.; Campbell, H. and Dunlop, M.G. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
    Nat Genet 40(12):1426-1435, 2008 PubMed Abstract
    
    
32. Jaeger, E.; Webb, E.; Howarth, K.; Carvajal-Carmona, L.; Rowan, A.; Broderick, P.; Walther, A.; Spain, S.; Pittman, A.; Kemp, Z.; Sullivan, K.; Heinimann, K.; Lubbe, S.; Domingo, E.; Barclay, E.; Martin, L.; Gorman, M.; Chandler, I.; Vijayakrishnan, J.; Wood, W.; Papaemmanuil, E.; Penegar, S.; Qureshi, M.; Farrington, S.; Tenesa, A.; Cazier, J.B.; Kerr, D.; Gray, R.; Peto, J.; Dunlop, M.; Campbell, H.; Thomas, H.; Houlston, R., and Tomlinson, I. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.
    Nat.Genet. 40(1):26-28, 2008
    PubMed Abstract
    
    
33. Kleinjan, D.A.; Bancewicz, R.M.; Gautier, P.; Dahm, R.; Schonthaler, H.B.; Damante, G.; Seawright, A.; Hever, A.M.; Yeyati, P.L.; van Heyningen, V. and Coutinho, P. Subfunctionalization of Duplicated Zebrafish pax6 Genes by cis-Regulatory Divergence.
    PLoS.Genet. 4(2): e29, 2008
    PubMed Abstract
    
    
34. Kleinjan, D. A. and Lettice, L. Long-Range Gene Control and Genetic Disease. In: Long-Range Control of Gene Expression. van Heyningen, V. and Hill, R. E.(Eds.), 339-388, 2008
    
    
35. Lees, C.W.; Zacharias, W.J.; Tremelling, M.; Noble, C.L.; Nimmo, E.R.; Tenesa, A.; Cornelius, J.; Torkvist, L.; Kao, J.; Farrington, S.; Drummond, H.E.; Ho, G.T.; Arnott, I.D.; Appelman, H.D.; Diehl, L.; Campbell, H.; Dunlop, M.G.; Parkes, M.; Howie, S.E.; Gumucio, D.L. and Satsangi, J. Analysis of germline GLI1 variation implicates hedgehog signalling in the regulation of intestinal inflammatory pathways. PLoS Med 5(12):e239, 2008 PubMed Abstract
    
    
36. Lettice, L.A.; Hill, A.E.; Devenney, P.S., and Hill, R.E. Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly.
    Hum Mol Genet 17(7):978-985, 2008
    PubMed Abstract
    
    
37. Little, J.; Gilmour, M.; Mossey, P.A.; Fitzpatrick, D.; Cardy, A.; Clayton-Smith, J. and Fryer, A.E. Folate and clefts of the lip and palate--a U.K.-based case-control study: Part I: Dietary and supplemental folate. Cleft Palate Craniofac.J. 45(4):420-427, 2008
    PubMed Abstract
    
    
38. Little, J.; Gilmour, M.; Mossey, P.A.; Fitzpatrick, D.; Cardy, A.; Clayton-Smith, J.; Hill, A.; Duthie, S.J.; Fryer, A.E.; Molloy, A.M. and Scott, J.M. Folate and clefts of the lip and palate--a U.K.-based case-control study: Part II: Biochemical and genetic analysis. Cleft Palate Craniofac.J. 45(4):428-438, 2008
    PubMed Abstract
    
    
39. Longman, D.; Arrisi, P.; Johnstone, I.L. and Caceres, J.F. Chapter 7. Nonsense-mediated mRNA decay in Caenorhabditis elegans.
    Methods Enzymol 449:149-164, 2008 PubMed Abstract
    
    
40. Loveridge, C.J.; MacDonald, A.D.; Thoms, H.C.; Dunlop, M.G., and Stark, L.A. The proapoptotic effects of sulindac, sulindac sulfone and indomethacin are mediated by nucleolar translocation of the RelA(p65) subunit of NF-kappaB.
    Oncogene 27(18): 2648-2655, 2008 PubMed Abstract
    
    
41. McCullough, B.J.; Kalapothakis, J.; Eastwood, H.; Kemper, P.; MacMillan, D.; Taylor, K.; Dorin, J., and Barran, P.E. Development of an Ion Mobility Quadrupole Time of Flight Mass Spectrometer.
    Anal Chem 80(16):6336-44, 2008
    PubMed Abstracts
    
    
42. McGurk, L.; Pathirana, S.; Rothwell, K.; Trimbuch, T.; Colombini, P.; Yu, F.; Chia, W., and Bownes, M. The RGS gene loco is essential for male reproductive system differentiation in Drosophila melanogasterBMC Dev Biol 8:37, 2008
    PubMed Abstract
    
    
43. Madsen, L.; Andersen, K.M.; Prag, S.; Moos, T.; Semple, C.A.; Seeger, M. and Hartmann-Petersen, R. Ubxd1 is a novel co-factor of the human p97 ATPase. Int J Biochem Cell Biol 40(12):2927-2942, 2008 PubMed Abstract
    
    
44. McLeod, K. and Burger, A. Towards the use of argumentation in bioinformatics: a gene expression case study.
    Bioinformatics 24(13):i304-i312, 2008 PubMed Abstract
    
    
    
    
    
    

45. McMahon, A.P.; Aronow, B.J.; Davidson, D.R.; Davies, J.A.; Gaido, K.W.; Grimmond, S.; Lessard, J.L.; Little, M.H.; Potter, S.S.; Wilder, E.L. and Zhang, P. GUDMAP: the genitourinary developmental molecular anatomy project. J.Am.Soc.Nephrol. 19(4):667-671, 2008
    PubMed Abstract
    
    
46. McQuillan, R.; Leutenegger, A.L.; Abdel-Rahman, R.; Franklin, C.S.; Pericic, M.; Barac-Lauc, L.; Smolej-Narancic, N.; Janicijevic, B.; Polasek, O.; Tenesa, A.; Macleod, A.K.; Farrington, S.M.; Rudan, P.; Hayward, C.; Vitart, V.; Rudan, I.; Wild, S.H.; Dunlop, M.G.; Wright, A.F.; Campbell, H., and Wilson, J.F. Runs of homozygosity in European populations.
    Am J Hum Genet 83(3):359-372, 2008 PubMed Abstract
    
    
47. Michailidou, Z.; Carter, R.N.; Marshall, E.; Sutherland, H.G.; Brownstein, D.G.; Owen, E.; Cockett, K.; Kelly, V.; Ramage, L.; Al Dujaili, E.A.; Ross, M.; Maraki, I.; Newton, K.; Holmes, M.C.; Seckl, J.R.; Morton, N.M.; Kenyon, C.J. and Chapman, K.E. Glucocorticoid receptor haploinsufficiency causes hypertension and attenuates hypothalamic-pituitary-adrenal axis and blood pressure adaptions to high-fat diet.
    FASEB Journal 22(11):3896-3907, 2008
    PubMed Abstract
    
    
48. Michlewski, G.; Guil, S.; Semple, C.A. and Caceres, J.F. Posttranscriptional regulation of miRNAs harboring conserved terminal loops. Molecular Cell 32(3):383-393, 2008 PubMed Abstract
    
    
49. Michlewski, G.; Sanford, J.R., and Caceres, J.F. The Splicing Factor SF2/ASF regulates translation initiation of cellular mRNAs by enhancing phosphorylation of 4EBP. Molecular Cell 30:179-189, 2008
    PubMed Abstract
    
    
50. Morey, C.; Da Silva, N.R.; Kmita,M.; Duboule, D. and Bickmore, W.A. Ectopic nuclear reorganisation driven by a Hoxb1 transgene transposed into Hoxd.
    Journal of Cell Science121:571-577, 2008
    PubMed Abstract
    
    
51. Ollinger, R.; Childs, A.J.; Burgess, H.M.; Speed, R.M.; Lundegaard, P.R.; Reynolds, N.; Gray, N.K.; Cooke, H.J., and Adams, I.R. Deletion of the pluripotency-associated Tex19.1 gene causes activation of endogenous retroviruses and defective spermatogenesis in mice.
    PLoS Genet 4(9):e1000199, 2008
    PubMed Abstract
    
    
52. Patek, C.E.; Arends, M.J.; Rose, L.; Luo, F.; Walker, M.; Devenney, P.S.; Berry, R.L.; Lawrence, N.J.; Ridgway, R.A.; Sansom, O.J., and Hooper, M.L. The pro-apoptotic K-Ras 4A proto-oncoprotein does not affect tumorigenesis in the ApcMin/+ mouse small intestine.
    BMC Gastroenterology 8: 24, 2008
    PubMed Abstract
    
    
53. Patek, C.E.; Brownstein, D.G.; Fleming, S.; Wroe, C.; Rose, L.; Webb, A.; Berry, R.L.; Devenney, P.S.; Walker, M.; Maddocks, O.D.; Lawrence, N.J.; Harrison, D.J.; Wood, K.M.; Miles, C.G., and Hooper, M.L. Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1 (tmT396)).
    Transgenic Res 17(3):459-475, 2008 PubMed Abstract
    
    
54. Pennings, S. and Meehan, R.R. Chromatin Remodeling and Cancer. In: Cancer Epigenetics. Tollefsbol, T. (ed.). CRC Press, 2008
    
    
55. Prabhakar, S.; Visel, A.; Akiyama, J.A.; Shoukry, M.; Lewis, K.D.; Holt, A.; Plajzer-Frick, I.; Morrison, H.; Fitzpatrick, D.R.; Afzal, V.; Pennacchio, L.A.; Rubin, E.M. and Noonan, J.P. Human-specific gain of function in a developmental enhancer.
    Science 321(5894):1346-1350, 2008 PubMed Abstract
    
    
56. Raciti, D.; Reggiani, L.; Geffers, L.; Jiang, Q.; Bacchion, F.; Subrizi, A.E.; Clements, D.; Tindal, C.; Davidson, D.R.; Kaissling, B., and Brandli, A.W. Organization of the pronephric kidney revealed by large-scale gene expression mapping.
    Genome Biol 9(5):R84, 2008
    PubMed Abstract
    
    
57. Rahimov, F.; Marazita, M.L.; Visel, A.; Cooper, M.E.; Hitchler, M.J.; Rubini, M.; Domann, F.E.; Govil, M.; Christensen, K.; Bille, C.; Melbye, M.; Jugessur, A.; Lie, R.T.; Wilcox, A.J.; Fitzpatrick, D.R.; Green, E.D.; Mossey, P.A.; Little, J.; Steegers-Theunissen, R.P.; Pennacchio, L.A.; Schutte, B.C. and Murray, J.C. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
    Nat Genet 40(11):1341-1347, 2008 PubMed Abstract
    
    
58. Richardson, J.; Lundegaard, P.R.; Porteous, D.J.; Jackson, I.J. and Patton, E.E. Mc1r-Pathway Regulation of Zebrafish Melanosome Dispersion.
    Zebrafish. 5(4):289-295, 2008
    PubMed Abstract
    
    
59. Rigby, R.E.; Leitch, A., and Jackson, A.P. Nucleic acid-mediated inflammatory diseases. BioEssays 30(9):833-842, 2008 PubMed Abstract
    
    
60. Robinson, D.O.; Howarth, R.J.; Williamson, K.A.; van Heyningen, V.; Beal, S.J., and Crolla, J.A. Genetic Analysis of Chromosome 11p13 and the PAX6 Gene in a Series of 125 Cases Referred With Aniridia.
    Am J Med Genet A 146A: 558-569, 2008 PubMed Abstract
    
    
61. Rudan, I.; Carothers, A.D.; Polasek, O.; Hayward, C.; Vitart, V.; Biloglav, Z.; Kolcic, I.; Zgaga, L.; Ivankovic, D.; Vorko-Jovic, A.; Wilson, J.F.; Weber, J.L.; Hastie, N.; Wright, A., and Campbell, H. Quantifying the increase in average human heterozygosity due to urbanisation.
    Eur J Hum Genet 16(9):1097-1102, 2008
    PubMed Abstract
    
    
62. Sanford, J.R.; Coutinho, P.; Hackett, J.A.; Wang, X.; Ranahan, W., and Caceres, J.F. Identification of nuclear and cytoplasmic mRNA targets for the shuttling protein SF2/ASF.
    PLoS.ONE 3(10):e3369, 2008
    PubMed Abstract
    
    
63. Schneider, A.; Bardakjian, T.M.; Zhou, J.; Hughes, N.; Keep, R.; Dorsainville, D.; Kherani, F.; Katowitz, J.; Schimmenti, L.A.; Hummel, M.; Fitzpatrick, D.R. and Young, T.L. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. Am J Med Genet A 146A(21):2794-2798, 2008
    PubMed Abstract
    
    
64. Schoemaker, M.J.; Swerdlow, A.J.; Higgins, C.D.; Wright, A.F., and Jacobs, P.A. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study.
    Lancet Oncol 9(3):239-246, 2008
    PubMed Abstract
    
    
65. Schoemaker, M.J.; Swerdlow, A.J.; Higgins, C.D.; Wright, A.F. and Jacobs, P.A. Mortality in women with turner syndrome in Great Britain: a national cohort study.
    J Clin Endocrinol Metab 93(12):4735-4742, 2008
    PubMed Abstract
    
    
66. Semple, C.A. Chromatin structure and human genome evolution. In: Encyclopedia of Life Sciences John Wiley & Sons Ltd, London. 2008
    
    
67. Shu, X.; McDowall, E.; Brown, A.F., and Wright, A.F. The human retinitis pigmentosa GTPase regulator gene variant database.
    Hum Mutat 29(5):605-608, 2008
    PubMed Abstract
    
    
68. Smith, R.W.; Graham, S.V., and Gray, N.K. Regulation of translation initiation by herpesviruses.
    Biochem Soc Trans 36(Pt 4):701-707, 2008
    PubMed Abstract
    
    
69. Stewart, J.D.; Hudson, G.; Yu-Wai-Man, P.; Blakeley, E.L.; He, L.; Horvath, R.; Maddison, P.; Wright, A.; Griffiths, P.G.; Turnbull, D.M.; Taylor, R.W. and Chinnery, P.F. OPA1 in multiple mitochondrial DNA deletion disorders.
    Neurology 71(22):1829-1831, 2008
    PubMed Abstract
    
    
70. Summerhurst, K.; Stark, M.; Sharpe, J.; Davidson, D., and Murphy, P. 3D representation of Wnt and Frizzled gene expression patterns in the mouse embryo at embryonic day 11.5 (Ts 19). Gene Expression Patterns 8(5):331-348, 2008 PubMed Abstract
    
    
71. Swerdlow, A.J.; Schoemaker, M.J.; Higgins, C.D.; Wright, A.F. and Jacobs, P.A. Cancer risk in patients with constitutional chromosome deletions: a nationwide British cohort study. British Journal of Cancer 98:1929-1933, 2008
    PubMed Abstract
    
    
72. Swerdlow, A.J.; Schoemaker, M.J.; Higgins, C.D.; Wright, A.F. and Jacobs, P.A. Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study.
    Hum Genet 123(2):215-224, 2008
    PubMed Abstract
    
    
73. Taylor, K.; Barran, P.E., and Dorin, J.R. Structure-activity relationships in beta-defensin peptides.
    Biopolymers 90(1): 1-7, 2008
    PubMed Abstract
    
    
74. Taylor, K.; Clarke, D.J.; McCullough, B.; Chin, W.; Seo, E.; Yang, D.; Oppenheim, J.; Uhrin, D.; Govan, J.R.W.; Campopiano, D.J.; MacMillan, D.; Barran, P., and Dorin, J.R. Analysis and Separation of Residues Important for the Chemoattractant and Antimicrobial Activities. Journal of Biological Chemistry 283(11): 6631-6639, 2008 Pubmed Abstract
    
    
75. Taylor, M.S.; Massingham, T.; Hayashizaki, Y.; Carninci, P.; Goldman, N. and Semple, C.A. Rapidly evolving human promoter regions.
    Nat.Genet. 40(11):1262-1263, 2008 PubMed Abstract
    
    
76. Tenesa, A.; Farrington, S.M.; Prendergast, J.G.; Porteous, M.E.; Walker, M.; Haq, N.; Barnetson, R.A.; Theodoratou, E.; Cetnarskyj, R.; Cartwright, N.; Semple, C.; Clark, A.J.; Reid, F.J.; Smith, L.A.; Kavoussanakis, K.; Koessler, T.; Pharoah, P.D.; Buch, S.; Schafmayer, C.; Tepel, J.; Schreiber, S.; Volzke, H.; Schmidt, C.O.; Hampe, J.; Chang-Claude, J.; Hoffmeister, M.; Brenner, H.; Wilkening, S.; Canzian, F.; Capella, G.; Moreno, V.; Deary, I.J.; Starr, J.M.; Tomlinson, I.P.; Kemp, Z.; Howarth, K.; Carvajal-Carmona, L.; Webb, E.; Broderick, P.; Vijayakrishnan, J.; Houlston, R.S.; Rennert, G.; Ballinger, D.; Rozek, L.; Gruber, S.B.; Matsuda, K.; Kidokoro, T.; Nakamura, Y.; Zanke, B.W.; Greenwood, C.M.; Rangrej, J.; Kustra, R.; Montpetit, A.; Hudson, T.J.; Gallinger, S.; Campbell, H., and Dunlop, M.G. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
    Nat Genet 40(5): 631-637, 2008
    PubMed Abstract
    
    
77. Theodoratou, E.; Campbell, H.; Tenesa, A.; McNeill, G.; Cetnarskyj, R.; Barnetson, R.A.; Porteous, M.E.; Dunlop, M.G., and Farrington, S.M. Modification of the associations between lifestyle, dietary factors and colorectal cancer risk by APC variants.
    Carcinogenesis 29(9):17774-1780 2008
    PubMed Abstract
    
    
78. Tomlinson, I.P.; Webb, E.; Carvajal-Carmona, L.; Broderick, P.; Howarth, K.; Pittman, A.M.; Spain, S.; Lubbe, S.; Walther, A.; Sullivan, K.; Jaeger, E.; Fielding, S.; Rowan, A.; Vijayakrishnan, J.; Domingo, E.; Chandler, I.; Kemp, Z.; Qureshi, M.; Farrington, S.M.; Tenesa, A.; Prendergast, J.G.; Barnetson, R.A.; Penegar, S.; Barclay, E.; Wood, W.; Martin, L.; Gorman, M.; Thomas, H.; Peto, J.; Bishop, D.T.; Gray, R.; Maher, E.R.; Lucassen, A.; Kerr, D.; Evans, D.G.; Schafmayer, C.; Buch, S.; Volzke, H.; Hampe, J.; Schreiber, S.; John, U.; Koessler, T.; Pharoah, P.; van Wezel, T.; Morreau, H.; Wijnen, J.T.; Hopper, J.L.; Southey, M.C.; Giles, G.G.; Severi, G.; Castellvi-Bel, S.; Ruiz-Ponte, C.; Carracedo, A.; Castells, A.; Forsti, A.; Hemminki, K.; Vodicka, P.; Naccarati, A.; Lipton, L.; Ho, J.W.; Cheng, K.K.; Sham, P.C.; Luk, J.; Agundez, J.A.; Ladero, J.M.; de la, H.M.; Caldes, T.; Niittymaki, I.; Tuupanen, S.; Karhu, A.; Aaltonen, L.; Cazier, J.B.; Campbell, H.; Dunlop, M.G., and Houlston, R.S. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.
    Nat Genet 40(5):623-630, 2008
    PubMed Abstract
    
    
79. van Heyningen, V. and Hill, R. E.(Eds.). Long-Range Control of Gene Expression. London, Academic Press.2008
    
    
80. Venkataraman, S.; Stevenson, P. Yang, Y. ; Richardson, L.; Burton, N. ; Perry, P. ; Smith, P. ; Baldock, R.A.; Davidson, D.R. and Christiansen, J.H. EMAGE-Edinburgh Mouse Atlas of Gene Expression: 2008 update. Nucleic Acids Research 36: Database Issue, 2008 PubMed Abstract PubMed Abstract
    
    
81. Vitart, V.; Rudan, I.; Hayward, C.; Gray, N.K.; Floyd, J.; Palmer, C.N.; Knott, S.A.; Kolcic, I.; Polasek, O.; Graessler, J.; Wilson, J.F.; Marinaki, A.; Riches, P.L.; Shu, X.; Janicijevic, B.; Smolej-Narancic, N.; Gorgoni, B.; Morgan, J.; Campbell, S.; Biloglav, Z.; Barac-Lauc, L.; Pericic, M.; Klaric, I.M.; Zgaga, L.; Skaric-Juric, T.; Wild, S.H.; Richardson, W.A.; Hohenstein, P.; Kimber, C.H.; Tenesa, A.; Donnelly, L.A.; Fairbanks, L.D.; Aringer, M.; McKeigue, P.M.; Ralston, S.H.; Morris, A.D.; Rudan, P.; Hastie, N.D.; Campbell, H., and Wright, A.F. SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
    Nat.Genet 40(4): 437-442, 2008
    PubMed Abstract
    
    
82. Wagschal, A.; Sutherland, H.G.; Woodfine, K.; Henckel, A.; Chebli, K.; Schulz, R.; Oakey, R.J.; Bickmore, W.A. and Feil, R. G9a Histone Methyltransferase Contributes to Imprinting in the Mouse Placenta.
    Mol Cell Biol 28(3):1104-13, 2008
    PubMed Abstract
    
    
83. Webb, T.R.; Cross, S.H.; McKie, L.; Edgar, R.; Vizor, L.; Harrison, J.; Peters, J. and Jackson, I.J. Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development.
    J Cell Sci 121(19):3140-3145, 2008
    PubMed Abstract
    
    
84. Yeyati, P.L. and van Heyningen., V. Incapacitating the evolutionary capacitor: Hsp90 modulation of disease. Curr Opin Genet Dev 18(3):264-272, 2008
    PubMed Abstract
    
    
85. Zgaga, L.; Hayward, C.; Vatavuk, Z.; Bencic, G.; Zemunik, T.; Valkovic, A.; Valkovic-Antic, I.; Bucan, K. and Rudan, I. High prevalence of glaucoma in Veli Brgud, Croatia, is caused by a dominantly inherited T377M mutation in the MYOC gene.
    Br J Ophthalmol 92(11):1567-1568, 2008 PubMed Abstract