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2014

Journal Article

Cis and trans effects of human genomic variants on gene expression

Bryois, Julien, Buil, Alfonso, Evans, David M., Kemp, John P., Montgomery, Stephen B., Conrad, Donald F., Ho, Karen M., Ring, Susan, Hurles, Matthew, Deloukas, Panos, Smith, George Davey and Dermitzakis, Emmanouil T. (2014). Cis and trans effects of human genomic variants on gene expression. PLoS Genetics, 10 (7) e1004461, e1004461. doi: 10.1371/journal.pgen.1004461

Cis and trans effects of human genomic variants on gene expression

2014

Journal Article

Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies

Knipe, Duleeka W., Evans, David M., Kemp, John P., Eeles, Rosalind, Easton, Douglas F., Kote-Jarai, Zsofia, Al Omama, Ali Amin, Benlloch, Sara, Donovan, Jenny L., Hamdy, Freddie C., Neal, David E., Davey Smith, George, Lathrop, Mark and Martin, Richard M. (2014). Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. Cancer Epidemiology, Biomarkers and Prevention, 23 (7), 1356-1365. doi: 10.1158/1055-9965.EPI-13-0889

Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies

2014

Journal Article

Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment

Kemp, John P., Medina-Gomez, Carolina, Estrada, Karol, St Pourcain, Beate, Heppe, Denise H. M., Warrington, Nicole M., Oei, Ling, Ring, Susan M., Kruithof, Claudia J., Timpson, Nicholas J., Wolber, Lisa E., Reppe, Sjur, Gautvik, Kaare, Grundberg, Elin, Ge, Bing, van der Eerden, Bram, van de Peppel, Jeroen, Hibbs, Matthew A., Ackert-Bicknell, Cheryl L., Choi, Kwangbom, Koller, Daniel L., Econs, Michael J., Williams, Frances M. K., Foroud, Tatiana, Carola Zillikens, M., Ohlsson, Claes, Hofman, Albert, Uitterlinden, Andre G., Davey Smith, George ... Evans, David M. (2014). Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. PLoS Genetics, 10 (6) e1004423, 1-18. doi: 10.1371/journal.pgen.1004423

Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment

2014

Journal Article

Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

van der Valk, Ralf J. P., Duijts, Liesbeth, Timpson, Nicolas J., Salam, Muhammad T., Standl, Marie, Curtin, John A., Genuneit, Jon, Kerhof, Marjan, Kreiner-Møller, Eskil, Cáceres, Alejandro, Gref, Anna, Liang, Liming L., Taal, H. Rob, Bouzigon, Emmanuelle, Demenais, Florence, Nadif, Rachel, Ober, Carole, Thompson, Emma E., Estrada, Karol, Hofman, Albert, Uitterlinden, André G., van Duijn, Cornélia, Rivadeneira, Fernando, Li, Xia, Eckel, Sandrah P., Berhane, Kiros, Gauderman, W. James, Granell, Raquel, Evans, David M. ... de Jongste, Johan C. (2014). Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. Journal of Allergy and Clinical Immunology, 134 (1), 46-55. doi: 10.1016/j.jaci.2013.08.053

Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

2014

Journal Article

The association between primary tooth emergence and anthropometric measures in young adults: Findings from a large prospective cohort study

Fatemifar, Ghazaleh, Evans, David M. and Tobias, Jonathan H. (2014). The association between primary tooth emergence and anthropometric measures in young adults: Findings from a large prospective cohort study. PLoS One, 9 (5) e96355, e96355.1-e96355.9. doi: 10.1371/journal.pone.0096355

The association between primary tooth emergence and anthropometric measures in young adults: Findings from a large prospective cohort study

2014

Journal Article

Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of beta-C-telopeptides of type I collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCT

Kemp, John P., Sayers, Adrian, Paternoster, Lavinia, Evans, David M., Deere, Kevin, St Pourcain, Beate, Timpson, Nicholas J., Ring, Susan M., Lorentzon, Mattias, Lehtimäki, Terho, Eriksson, Joel, Kähönen, Mika, Raitakari, Olli, Laaksonen, Marika, Sievänen, Harri, Viikari, Jorma, Lyytikäinen, Leo‐Pekka, Smith, George Davey, Fraser, William D., Vandenput, Liesbeth, Ohlsson, Claes and Tobias, Jon H. (2014). Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of beta-C-telopeptides of type I collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCT. Journal of Bone and Mineral Research, 29 (4), 1015-1024. doi: 10.1002/jbmr.2093

Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of beta-C-telopeptides of type I collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCT

2014

Journal Article

Childhood intelligence is heritable, highly polygenic and associated with FNBP1L

Benyamin, B., St Pourcain, B., Davis, O. S., Davies, G., Hansell, N. K., Brion, M. J., Kirkpatrick, R. M., Cents, R. A. M., Franic, S., Miller, M. B., Haworth, C. M. A., Meaburn, E., Price, T. S., Evans, D. M., Timpson, N., Kemp, J., Ring, S., McArdle, W., Medland, S. E., Yang, J., Harris, S. E., Liewald, D. C., Scheet, P., Xiao, X., Hudziak, J. J., de Geus, E. J. C., Wellcome Trust Case Control Consortium 2 (WTCCC2), Jaddoe, V. W. V., Starr, J. M. ... Visscher, P. M. (2014). Childhood intelligence is heritable, highly polygenic and associated with FNBP1L. Molecular Psychiatry, 19 (2), 253-258. doi: 10.1038/mp.2012.184

Childhood intelligence is heritable, highly polygenic and associated with FNBP1L

2014

Journal Article

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus

Oei, Ling, Estrada, Karol, Duncan, Emma L., Christiansen, Claus, Liu, Ching-Ti, Langdahl, Bente L., Obermayer-Pietsch, Barbara, Riancho, José A., Prince, Richard L., van Schoor, Natasja M., McCloskey, Eugene, Hsu, Yi-Hsiang, Evangelou, Evangelos, Ntzani, Evangelia, Evans, David M., Alonso, Nerea, Husted, Lise B., Valero, Carmen, Hernandez, Jose L., Lewis, Joshua R., Kaptoge, Stephen K., Zhu, Kun, Cupples, L. Adrienne, Medina-Gómez, Carolina, Vandenput, Liesbeth, Kim, Ghi Su, Lee, Seung Hun, Castaño-Betancourt, Martha C., Oei, Edwin H. G. ... Rivadeneira, Fernando (2014). Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus. Bone, 59, 20-27. doi: 10.1016/j.bone.2013.10.015

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus

2014

Journal Article

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

St Pourcain, Beate, Skuse, David H., Mandy, William P., Wang, Kai, Hakonarson, Hakon, Timpson, Nicholas J., Evans, David M., Kemp, John P., Ring, Susan M., McArdle, Wendy L., Golding, Jean and Smith, George Davey (2014). Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. Molecular Autism, 5 (1) 18, 18. doi: 10.1186/2040-2392-5-18

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

2014

Journal Article

Polygenic scores predict alcohol problems in an independent sample and show moderation by the environment

Salvatore, Jessica E., Aliev, Fazil, Edwards, Alexia C., Evans, David M., Macleod, John, Hickman, Matthew, Lewis, Glyn, Kendler, Kenneth S., Loukola, Anu, Korhonen, Tellervo, Latvala, Antti, Rose, Richard J., Kaprio, Jaakko and Dick, Danielle M. (2014). Polygenic scores predict alcohol problems in an independent sample and show moderation by the environment. Genes, 5 (2), 330-346. doi: 10.3390/genes5020330

Polygenic scores predict alcohol problems in an independent sample and show moderation by the environment

2014

Conference Publication

Genome Wide Association Study in 8,997 Women Identifies Novel Genetic Variants At Five Genomic Loci Associated with Stress and Urgency Urinary Incontinence

Cartwright, R., Tikkinen, K., Mangino, M., Guggenheim, J., Franklin-Nembhard, L., Evans, D., Bennett, P., Khullar, V, Spector, T., Lawlor, D., Walley, A. and Jarvelin, M. (2014). Genome Wide Association Study in 8,997 Women Identifies Novel Genetic Variants At Five Genomic Loci Associated with Stress and Urgency Urinary Incontinence. 44th Annual Meeting of the International Continence Society (ICS), Rio de Janeiro, Brazil, 20-24 October 2014. Hoboken, NJ United States: John Wiley and Sons. doi: 10.1002/nau.22655

Genome Wide Association Study in 8,997 Women Identifies Novel Genetic Variants At Five Genomic Loci Associated with Stress and Urgency Urinary Incontinence

2014

Journal Article

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

Hoggart, C. J., Venturini, G., Mangino, M., Gomez, F., Ascari, G., Zhao, J.H., Teumer, A., Winkler, T. W., Tsernikova, N., Luan, J., Mihailov, E., Ehret, G. B., Zhang, W., Lamparter, D., Esko, T., Mace, A., Rueger, S., Bochud, P.-Y., Barcella, M., Dauvilliers, Y., Benyamin, B., Evans, D. M., Hayward, C., Lopez, M. F., Franke, L., Russo, A., Heid, I. M., Salvi, E., Vendantam, S. ... Kutalik Z. (2014). Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index. PLoS Genetics, 10 (7) e1004508, 1-12. doi: 10.1371/journal.pgen.1004508

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

2014

Conference Publication

Antxr2 Is Associated with Ankylosing Spondylitis

Karaderi, T., Keidel, S., Appleton, L. H., Evans, D. M. and Wordsworth, B. P. (2014). Antxr2 Is Associated with Ankylosing Spondylitis. 9th International Cogress on Spondyloarthritis, Gent, Belgium, 23-25 October 2014. Ospedaletto, Italy: Pacini Editore SpA.

Antxr2 Is Associated with Ankylosing Spondylitis

2014

Conference Publication

Bivariate genetic association analysis of pediatric total-body DXA parameters identifies two novel genetic variants that jointly influence bone mineral content and bone area

Kemp, John P., Medina-Gomez, Carolina, Warrington, Nicole M., Heppe, Denise H. M., Timpson, Nicholas J., Oei, Ling, St Pourcain, Beate, Kruithof, Claudia J., Zillikens, M. Carola, Hofman, Albert, Uitterlinden, Andre G., Smith, George Davey, Jaddoe, Vincent W. V., Tobias, Jonathan H., Rivadeneira, Fernando and Evans, David M. (2014). Bivariate genetic association analysis of pediatric total-body DXA parameters identifies two novel genetic variants that jointly influence bone mineral content and bone area. Annual Meeting of the American Society for Bone and Mineral Research, Houston, Texas, United States, 12-15 September 2014. Hoboken, NJ, United States: Wiley-Blackwell Publishing.

Bivariate genetic association analysis of pediatric total-body DXA parameters identifies two novel genetic variants that jointly influence bone mineral content and bone area

2013

Journal Article

Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

Ferreira, Manuel A. R., Matheson, Melanie C., Tang, Clara S., Granell, Raquel, Ang, Wei., Hui, Jennie, Kiefer, Amy K., Duffy, David L., Baltic, Svetlana, Danoy, Patrick, Bui, Minh, Price, Loren, Sly, Peter D., Eriksson, Nicholas, Madden, Pamela A., Abraham, Michael J. A., Holt, Patrick G., Heath, p Andrew C., Hunter, Michael, Musk, Bill, Robertson, Colin F., Le Souef, Peter, Montgomery, Grant W., Henderson, A. John, Tung, Joyce Y., Dharmage, Shyamali C., Brown, Matthew A., James, Alan, Thompson, Philip J. ... Australian Asthma Genetics Consortium Collaborators (2013). Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. Journal of Allergy And Clinical Immunology, 133 (6), 1564-1571. doi: 10.1016/j.jaci.2013.10.030

Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

2013

Journal Article

A population-based study of genetic variation and psychotic experiences in adolescents

Zammit, Stanley, Hamshere, Marian, Dwyer, Sarah, Georgiva, Lyudmila, Timpson, Nic, Moskvina, Valentina, Richards, Alexander, Evans, David M., Lewis, Glyn, Jones, Peter, Owen, Michael J. and O'Donovan, Michael C. (2013). A population-based study of genetic variation and psychotic experiences in adolescents. Schizophrenia Bulletin, Advance Access (6), 1-9. doi: 10.1093/schbul/sbt146

A population-based study of genetic variation and psychotic experiences in adolescents

2013

Journal Article

Meta-analysis of gene-level associations for rare variants based on single-variant statistics

Hu, Yi-Juan, Berndt, Sonja I., Gustafsson, Stefan, Ganna, Andrea, Hirschhorn, Joel, North, Kari E., Ingelsson, Erik, Lin, Dan-Yu, Collins, Francis S., Berndt, Sonja I., Gustafsson, Stefan, Ma¨gi, Reedik, Ganna, Andrea, Wheeler, Eleanor, Feitosa, Mary F., Justice, Anne E., Monda, Keri L., Croteau-Chonka, Damien C., Day, Felix R., Esko, To˜nu, Fall, Tove, Ferreira, Teresa, Gentilini, Davide, Jackson, Anne U., Luan, Jian’an, Randall, Joshua C., Vedantam, Sailaja, Willer, Cristen J., Winkler, Thomas W. ... Ingelsson, Erik (2013). Meta-analysis of gene-level associations for rare variants based on single-variant statistics. American Journal of Human Genetics, 93 (2), 236-248. doi: 10.1016/j.ajhg.2013.06.011

Meta-analysis of gene-level associations for rare variants based on single-variant statistics

2013

Journal Article

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

Cheng C.-Y., Schache M., Ikram M.K., Young T.L., Guggenheim J.A., Vitart V., MacGregor S., Verhoeven V.J.M., Barathi V.A., Liao J., Hysi P.G., Bailey-Wilson J.E., St. Pourcain B., Kemp J.P., McMahon G., Timpson N.J., Evans D.M., Montgomery G.W., Mishra A., Wang Y.X., Wang J.J., Rochtchina E., Polasek O., Wright A.F., Amin N., Van Leeuwen E.M., Wilson J.F., Pennell C.E., Van Duijn C.M. ... Consortium for Refractive Error and Myopia (2013). Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. American Journal of Human Genetics, 93 (2), 264-277. doi: 10.1016/j.ajhg.2013.06.016

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

2013

Journal Article

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

Cousminer D.L., Berry D.J., Timpson N.J., Ang W., Thiering E., Byrne E.M., Rob Taal H., Huikari V., Bradfield J.P., Kerkhof M., Groen-Blokhuis M.M., Kreiner-Moller E., Marinelli M., Holst C., Leinonen J.T., Perry J.R.B., Surakka I., Pietilainen O., Kettunen J., Anttila V., Kaakinen M., Sovio U., Pouta A., Das S., Lagou V., Power C., Prokopenko I., Evans D.M., Kemp J.P. ... Middeldorp, Christel (2013). Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Human Molecular Genetics, 22 (13), 2735-2747. doi: 10.1093/hmg/ddt104

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

2013

Journal Article

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci

Cortes, Adrian, Hadler, Johanna, Pointon, Jenny P., Robinson, Philip C., Karaderi, Tugce, Leo, Paul, Cremin, Katie, Pryce, Karena, Harris, Jessica, Lee, Seunghun, Joo, Kyung Bin, Shim, Seung-Cheol, Weisman, Michael, Ward, Michael, Zhou, Xiaodong, Garchon, Henri-Jean, Chiocchia, Gilles, Nossent, Johannes, Lie, Benedicte A., Førre, Øystein, Tuomilehto, Jaakko, Laiho, Kari, Jiang, Lei, Liu, Yu, Wu, Xin, Bradbury, Linda A., Elewaut, Dirk, Burgos-Vargas, Ruben, Stebbings, Simon ... Wellcome Trust Case Control Consortium 2 (WTCCC2) (2013). Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nature Genetics, 45 (7), 730-740. doi: 10.1038/ng.2667

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci