Human Genetics Unit: Staff Papers 2013

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1. Adams D, Baldock R, Bhattacharya S, Copp AJ, Dickinson M, Greene ND, Henkelman M, Justice M, Mohun T, Murray SA, Pauws E, Raess M, Rossant J, Weaver T, and West D. Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening. Dis. Model. Mech. 2013
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2. Allebrandt KV, Amin N, Muller-Myhsok B, Esko T, Teder-Laving M, Azevedo RV, Hayward C, van MJ, ......... Campbell H, Wilson JF, ...... Z, Rudan I, Merrow M, Penninx B, Kyriacou CP, Metspalu A, van Duijn CM, Meitinger T, and Roenneberg T. A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. Mol. Psychiatry 18: 122-132. 2013
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3. Bickmore WA and van SB. 2013. Genome architecture: domain organization of interphase chromosomes. Cell 152: 1270-1284. 2013
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4. Chapman JR, Barral P, Vannier JB, Borel V, Steger M, Tomas-Loba A, Sartori AA, Adams IR, Batista FD, and Boulton SJ. RIF1 Is Essential for 53BP1-Dependent Nonhomologous End Joining and Suppression of DNA Double-Strand Break Resection. Mol. Cell 49: 858-871. 2013
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5. Choudhury NR, de Lima AF, de Andres-Aguayo L, Graf T, Caceres JF, Rappsilber J, and Michlewski G. Tissue-specific control of brain-enriched miR-7 biogenesis. Genes Dev. 27: 24-38. 2013
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6. Christmann M, Schmaler T, Gordon C, Huang X, Bayram O, Schinke J, Stumpf S, Dubiel W, and Braus GH. Control of multicellular development by the physically interacting deneddylases DEN1/DenA and COP9 signalosome. PLoS. Genet. 9: e1003275. 2013
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7. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani ………….., Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Leveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, and Abecasis GR. Seven new loci associated with age-related macular degeneration. Nat. Genet. 45: 433-439. 2013
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8. Glodzik D, Navarro P, Vitart V, Hayward C, McQuillan R, Wild SH, Dunlop MG, Rudan I, Campbell H, Haley C, Wright AF, Wilson JF, and McKeigue P.  Inference of identity by descent in population isolates and optimal sequencing studies. Eur. J. Hum. Genet. 2013
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9. Gu X, Reid D, Higham DJ, and Gilbert D. Mathematical Modelling of Polyamine Metabolism in Bloodstream-Form Trypanosoma brucei: An Application to Drug Target Identification. PLoS. One. 8: e53734. 2013
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10. Hansen A, Corless S, Cleland A, Petrik J, Gilbert N, and Bradley M. Polymers for the Cell-Specific Immobilisation of Megakaryocytic Cell Lines. Macromol. Biosci. 2013
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11. Hart AW, Mella S, Mendrychowski J, van H, V, and Kleinjan DA. The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas. 2013
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12. Hemani G, Knott S, and Haley C. An evolutionary perspective on epistasis and the missing heritability. PLoS. Genet. 9: e1003295. 2013
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13. Hohenstein P.. The stem and roots of Wilms' tumours. EMBO Mol. Med. 5: 4-6. 2013
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14. Kind J, Pagie L, Ortabozkoyun H, Boyle S, de Vries SS, Janssen H, Amendola M, Nolen LD, Bickmore WA, and van SB. Single-cell dynamics of genome-nuclear lamina interactions. Cell 153: 178-192. 2013
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15. Kindt AS, Navarro P, Semple CA, and Haley CS.. The genomic signature of trait-associated variants. BMC. Genomics 14: 108. 2013
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16. Kirin M, Chandra A, Charteris DG, Hayward C, Campbell S, Celap I, Bencic G, Vatavuk Z, Kirac I, Richards AJ, Tenesa A, Snead MP, Fleck BW, Singh J, Harsum S, Maclaren RE, den Hollander AI, Dunlop MG, Hoyng CB, Wright AF, Campbell H, Vitart V, and Mitry D. Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. Hum. Mol. Genet. 2013
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17. Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, …….Hayward C, Zemunik T, Huffman J, ……...Hastie N, Balkau B,....Rivadeneira F, …………, Schurmann C, Budde K, Ernst F, Farrington SM, ....... …… Campbell H, Rudan I, ….., Deary IJ, …….Schipf S, Dunlop MG, Tonjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, .....Caulfield M, Bochud M, and Gieger C. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat. Genet. 45: 145-154. 2013
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18. Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A, Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V, Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I, Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd PM, Hayward C, Aulchenko Y, Campbell H, and Rudan I. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. PLoS. Genet. 9: e1003225. 2013
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19. Lempiainen H, Couttet P, Bolognani F, Muller A, Dubost V, Luisier R, Espinola AR, Vitry V, Unterberger EB, Thomson JP, Treindl F, Metzger U, Wrzodek C, Hahne F, Zollinger T, Brasa S, Kalteis M, Marcellin M, Giudicelli F, Braeuning A, Morawiec L, Zamurovic N, Langle U, Scheer N, Schubeler D, Goodman J, Chibout SD, Marlowe J, Theil D, Heard DJ, Grenet O, Zell A, Templin MF, Meehan RR, Wolf RC, Elcombe CR, Schwarz M, Moulin P, Terranova R, and Moggs JG. 2013. Identification of Dlk1-Dio3 imprinted gene cluster noncoding RNAs as novel candidate biomarkers for liver tumor promotion. Toxicol. Sci. 131: 375-386. 2013
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20. Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, ….Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, ....Taylor KD, ….., Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, ….Craig JE, Macgregor S, and Wong TY. 2013. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat. Genet. 45: 155-163. 2013
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21. McTrusty AD, McCulloch DL, Strang NC, McCall A, Parks S, Brown A, and Kennedy GJ. Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs. Doc. Ophthalmol. 126: 171-176. 2013
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22. Mohun T, Adams DJ, Baldock R, Bhattacharya S, Copp AJ, Hemberger M, Houart C, Hurles ME, Robertson E, Smith JC, Weaver T, and Weninger W. Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice. Dis. Model. Mech. 2013
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23. Naughton C, Avlonitis N, Corless S, Prendergast JG, Mati IK, Eijk PP, Cockroft SL, Bradley M, Ylstra B, and Gilbert N. Transcription forms and remodels supercoiling domains unfolding large-scale chromatin structures. Nat. Struct. Mol. Biol. 20: 387-395. 2013
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24. O'Donoghue JE, Bech-Otschir D, Larsen IB, Wallace M, Hartmann-Petersen R, and Gordon C. Nedd8 processing enzymes in Schizosaccharomyces pombe. BMC. Biochem. 14: 8. 2013
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25. O'Mahony FC, Nanda J, Laird A, Mullen P, Caldwell H, Overton IM, Eory L, O'Donnell M, Faratian D, Powles T, Harrison DJ, and Stewart GD. The use of reverse phase protein arrays (RPPA) to explore protein expression variation within individual renal cell cancers. J. Vis. Exp. 2013
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26. Ramaswami G, Zhang R, Piskol R, Keegan LP, Deng P, O'Connell MA, and Li JB. Identifying RNA editing sites using RNA sequencing data alone. Nat. Methods 10: 128-132. 2013
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27. Ravi V, Bhatia S, Gautier P, Loosli F, Tay BH, Tay A, Murdoch E, Coutinho P, van H, V, Brenner S, Venkatesh B, and Kleinjan DA. Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences. PLoS. Genet. 9: e1003177. 2013
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28. Reddington JP, Pennings S, and Meehan RR. Non-canonical functions of the DNA methylome in gene regulation. Biochem. J. 451: 13-23. 2013
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29. Reichmann J, Reddington JP, Best D, Read D, Ollinger R, Meehan RR, and Adams IR. 2013. The genome-defence gene Tex19.1 suppresses LINE-1 retrotransposons in the placenta and prevents intra-uterine growth retardation in mice. Hum. Mol. Genet. 2013
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30. Smith MJ, O'Sullivan J, Bhaskar SS, Hadfield KD, Poke G, Caird J, Sharif S, Eccles D, Fitzpatrick D, Rawluk D, du PD, Newman WG, and Evans DG. Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. Nat. Genet. 45: 295-298. 2013
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31. Sproul D and Meehan RR. Genomic insights into cancer-associated aberrant CpG island hypermethylation. Brief. Funct. Genomics. 2013
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32. Thanabalasingham G, Huffman JE, Kattla JJ, Novokmet M, Rudan I, Gloyn AL, Hayward C, Adamczyk B, Reynolds RM, Muzinic A, Hassanali N, Pucic M, Bennett AJ, Essafi A, Polasek O, Mughal SA, Redzic I, Primorac D, Zgaga L, Kolcic I, Hansen T, Gasperikova D, Tjora E, Strachan MW, Nielsen T, Stanik J, Klimes I, Pedersen OB, Njolstad PR, Wild SH, Gyllensten U, Gornik O, Wilson JF, Hastie ND, Campbell H, McCarthy MI, Rudd PM, Owen KR, Lauc G, and Wright AF. 2. Mutations in HNF1A result in marked alterations of plasma glycan profile. Diabetes 62: 1329-1337. 2013
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33. Valdes-Sanchez L, De la Cerda B, Diaz-Corrales FJ, Massalini S, Chakarova CF, Wright AF, and Bhattacharya SS. ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice. Hum. Mol. Genet. 22: 1507-1515. 2013
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34. Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Hohn R, Macgregor .......... Iyengar SK, Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Muller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AA, Teo YY, Rahi JS, Vitart V, ... CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, and Hammond CJ. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat. Genet. 45: 314-318. 2013
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35. Vimaleswaran KS, Berry DJ, Lu C, Tikkanen E, Pilz S, ... Campbell H, Dunlop M, Mitchell BD, Herzig KH, Pouta A, Hartikainen AL, ......TJ, Jarvelin MR, Whittaker JC, Hingorani AD, and Hypponen E. Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts. PLoS. Med. 10: e1001383. 2013
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36. Wong F, Welten MC, Anderson C, Bain AA, Liu J, Wicks MN, Pavlovska G, Davey MG, Murphy P, Davidson D, Tickle CA, Stern CD, Baldock RA, and Burt DW. eChickAtlas: An introduction to the database. Genesis. 2013
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37. Zhang Y, Zhong L, Xu B, Yang Y, Ban R, Zhu J, Cooke HJ, Hao Q, and Shi Q. SpermatogenesisOnline 1.0: a resource for spermatogenesis based on manual literature curation and genome-wide data mining. Nucleic Acids Res. 41: D1055-D1062. 2013
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