Journal Article: Rare variant analyses across multiethnic cohorts identify novel genes for refractive error
Musolf, Anthony M., Haarman, Annechien E. G., Luben, Robert N., Ong, Jue-Sheng, Patasova, Karina, Trapero, Rolando Hernandez, Marsh, Joseph, Jain, Ishika, Jain, Riya, Wang, Paul Zhiping, Lewis, Deyana D., Tedja, Milly S., Iglesias, Adriana I., Li, Hengtong, Cowan, Cameron S., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching-Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Fan, Qiao ... Bailey-Wilson, Joan E. (2023). Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications Biology, 6 (1) 6. doi: 10.1038/s42003-022-04323-7
Journal Article: Do environmental effects indexed by parental genetic variation influence common psychiatric symptoms in childhood?
Jami, Eshim S., Hammerschlag, Anke R., Sallis, Hannah M., Qiao, Zhen, Andreassen, Ole A., Magnus, Per M., Njølstad, Pål R., Havdahl, Alexandra, Pingault, Jean-Baptiste, Evans, David M., Munafò, Marcus R., Ystrom, Eivind, Bartels, Meike and Middeldorp, Christel (2023). Do environmental effects indexed by parental genetic variation influence common psychiatric symptoms in childhood?. Translational Psychiatry, 13 (1) 94, 94. doi: 10.1038/s41398-023-02348-y
Journal Article: Causal effects of maternal circulating amino acids on offspring birthweight: a Mendelian randomisation study
Zhao, Jian, Stewart, Isobel D., Baird, Denis, Mason, Dan, Wright, John, Zheng, Jie, Gaunt, Tom R., Evans, David M., Freathy, Rachel M., Langenberg, Claudia, Warrington, Nicole M., Lawlor, Deborah A. and Borges, Maria Carolina (2023). Causal effects of maternal circulating amino acids on offspring birthweight: a Mendelian randomisation study. eBioMedicine, 88 104441, 1-14. doi: 10.1016/j.ebiom.2023.104441
(2023–2027) NHMRC Investigator Grants
(2020–2023) NHMRC IDEAS Grants
(2019–2022) NHMRC Project Grant
(2023) Doctor Philosophy
Investigating the association between maternal and fetal HLA-KIR genotypes and offspring birth weight
Doctor Philosophy
Multi-omic Approaches to Understanding Septic Shock
Doctor Philosophy
Investigating the genetic and environmental relationship between left-handedness, mortality, disease and other life outcomes
Handedness refers to the preferential use of one hand over the other. Conversely, ambidexterity refers to the ability to perform the same action equally well with both hands. Hand preference is first observed during gestation as embryos begin to exhibit single arm movements. Across the life span, the consistent use of one hand leads to alterations in the macromorphology and micromorphology of bone, which results in enduring asymmetries in bone form and density. At the neurological level, handedness is associated with the lateralization of language (the side of the brain involved in language) and other cognitive effects. The prevalence of left-handedness in modern western cultures is approximately 9% and is greater in males than females. While handedness is conceptually simple, its aetiology and whether it is related to brain and visceral (internal organ) asymmetry is unclear.
Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we recently conducted the world’s largest genetic study of handedness in over 1.7 million individuals (Cuellar-Partida et al 2020). We found 41 genetic loci associated with left-handedness and 7 associated with ambidexterity (P < 5 × 10−8). We would now like to take this work forward and use this resource to investigate the relationship between handedness and a variety of life outcomes including mortality and common complex diseases. The successful candidate will gain experience across a wide range of advanced statistical genetics methodologies including Mendelian randomization (a way of using genetic variants to investigate putatively causal relationships), genome-wide association analysis (GWAS), genetic restricted maximum likelihood (G-REML) analysis of genome-wide data which can be used to partition variation in phenotypes into genetic and environmental sources of variation, and instrumental variables analysis (using natural “experiments” to obtain information on causality from observational data).
Cuellar-Partida et al. (2020). Genome-wide association study identifies 48 common genetic variants associated with handedness. Nat Hum Behav. doi: 10.1038/s41562-020-00956-y.
Integrating family-based and Mendelian randomization designs
Hwang, Liang-Dar, Davies, Neil M., Warrington, Nicole M. and Evans, David M. (2022). Integrating family-based and Mendelian randomization designs. Combining human genetics and causal inference to understand human disease and development. (pp. 137-150) edited by George Davey Smith, Rebecca Richmond and Jean-Baptiste Pingault. Cold Spring Harbor, NY, United States: Cold Spring Harbor Laboratory Press.
Detailing patient specific modeling to aid clinical decision-making
Richmond, S., Al Ali, A. M., Beldie, L., Chong, Y. T., Cronin, A., Djordjevic, J., Drage, N. A., Evans, D. M., Jones, D., Lu, Y., Marshall, D., Middleton, J., Parker, G., Paternoster, L., Playle, R. A., Popat, H., Rosin, P. L., Sidorov, K., Toma, A. M., Walker, B., Wilson, C. and Zhurov, A. I. (2012). Detailing patient specific modeling to aid clinical decision-making. Patient-Specific Computational Modeling. (pp. 105-131) Dordrecht, Netherlands: Springer . doi: 10.1007/978-94-007-4552-0_5
Gene-gene interaction and epistasis
Evans, David M. (2011). Gene-gene interaction and epistasis. Analysis of complex disease association studies. (pp. 197-213) edited by Eleftheria Zeggini and Andrew Morris. Amsterdam, Netherlands: Elsevier. doi: 10.1016/B978-0-12-375142-3.10012-4
Mapping complex disease genes using linkage disequilibrium and genomewide association scans
Palmer, Lyle J., Timpson, Nicholas J., Evans, David M., Smith, George Davey and Cardon, Lon R. (2011). Mapping complex disease genes using linkage disequilibrium and genomewide association scans. An Introduction to Genetic Epidemiology. (pp. 91-130) Bristol, United Kingdom: Policy Press.
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error
Musolf, Anthony M., Haarman, Annechien E. G., Luben, Robert N., Ong, Jue-Sheng, Patasova, Karina, Trapero, Rolando Hernandez, Marsh, Joseph, Jain, Ishika, Jain, Riya, Wang, Paul Zhiping, Lewis, Deyana D., Tedja, Milly S., Iglesias, Adriana I., Li, Hengtong, Cowan, Cameron S., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching-Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Fan, Qiao ... Bailey-Wilson, Joan E. (2023). Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications Biology, 6 (1) 6. doi: 10.1038/s42003-022-04323-7
Jami, Eshim S., Hammerschlag, Anke R., Sallis, Hannah M., Qiao, Zhen, Andreassen, Ole A., Magnus, Per M., Njølstad, Pål R., Havdahl, Alexandra, Pingault, Jean-Baptiste, Evans, David M., Munafò, Marcus R., Ystrom, Eivind, Bartels, Meike and Middeldorp, Christel (2023). Do environmental effects indexed by parental genetic variation influence common psychiatric symptoms in childhood?. Translational Psychiatry, 13 (1) 94, 94. doi: 10.1038/s41398-023-02348-y
Zhao, Jian, Stewart, Isobel D., Baird, Denis, Mason, Dan, Wright, John, Zheng, Jie, Gaunt, Tom R., Evans, David M., Freathy, Rachel M., Langenberg, Claudia, Warrington, Nicole M., Lawlor, Deborah A. and Borges, Maria Carolina (2023). Causal effects of maternal circulating amino acids on offspring birthweight: a Mendelian randomisation study. eBioMedicine, 88 104441, 1-14. doi: 10.1016/j.ebiom.2023.104441
Decina, Caitlin S., Hopkins, Rhian, Bowden, Jack, Shields, Beverly M., Lawlor, Deborah A., Warrington, Nicole M., Evans, David M., Freathy, Rachel M. and Beaumont, Robin N. (2023). Investigating a possible causal relationship between maternal serum urate concentrations and offspring birthweight: a Mendelian randomization study. International Journal of Epidemiology, 52 (1), 178-189. doi: 10.1093/ije/dyac186
Genotype by sex interactions in ankylosing spondylitis
Li, Zhixiu, McRae, Allan F., Wang, Geng, Ellis, Jonathan J., Whyte, Jessica, Kenna, Tony J., Brown, Matthew A. and Evans, David M. (2023). Genotype by sex interactions in ankylosing spondylitis. Nature Genetics, 55 (1), 14-16. doi: 10.1038/s41588-022-01250-5
Insulin and body mass index decrease serum soluble leptin receptor levels in humans
Sommer, Christine, Vangberg, Kjersti G, Moen, Gunn-Helen, Evans, David M, Lee-Ødegård, Sindre, Blom-Høgestøl, Ingvild K, Sletner, Line, Jenum, Anne K, Drevon, Christian A, Gulseth, Hanne L and Birkeland, Kåre I (2022). Insulin and body mass index decrease serum soluble leptin receptor levels in humans. The Journal of Clinical Endocrinology & Metabolism, 108 (5), 1110-1119. doi: 10.1210/clinem/dgac699
Novel Genetic Determinants of Dental Maturation in Children
Grgic, O., Prijatelj, V., Dudakovic, A., Vucic, S., Dhamo, B., Trajanoska, K., Monnereau, C., Zrimsek, M., Gautvik, K.M., Reppe, S., Shimizu, E., Haworth, S., Timpson, N.J., Jaddoe, V.W.V., Jarvelin, M.-R., Evans, D., Uitterlinden, A.G., Ongkosuwito, E.M., van Wijnen, A.J., Medina-Gomez, C., Rivadeneira, F. and Wolvius, E.B. (2022). Novel Genetic Determinants of Dental Maturation in Children. Journal of Dental Research, 102 (3), 002203452211322-356. doi: 10.1177/00220345221132268
Moen, Gunn-Helen, Nivard, Michel, Bhatta, Laxmi, Warrington, Nicole M., Willer, Cristen, Åsvold, Bjørn Olav, Brumpton, Ben and Evans, David M. (2022). Using genomic structural equation modeling to partition the genetic covariance between birthweight and cardiometabolic risk factors into maternal and offspring components in the Norwegian HUNT study. Behavior Genetics, 53 (1), 1-13. doi: 10.1007/s10519-022-10116-9
D’Urso, Shannon, Arumugam, Pooja, Weider, Therese, Hwang, Liang-Dar, Bond, Tom A., Kemp, John P., Warrington, Nicole M., Evans, David M., O’Mara, Tracy A. and Moen, Gunn-Helen (2022). Mendelian randomization analysis of factors related to ovulation and reproductive function and endometrial cancer risk. BMC Medicine, 20 (1) 419, 1-17. doi: 10.1186/s12916-022-02585-w
Birth weight and cardiometabolic risk factors: a discordant twin study in the UK Biobank
Wang, Geng, Bond, Tom A., Warrington, Nicole M. and Evans, David M. (2022). Birth weight and cardiometabolic risk factors: a discordant twin study in the UK Biobank. Journal of Developmental Origins of Health and Disease, 14 (2), 1-7. doi: 10.1017/s2040174422000538
Hwang, Liang-Dar, Moen, Gunn-Helen and Evans, David M. (2022). Using adopted individuals to partition indirect maternal genetic effects into prenatal and postnatal effects on offspring phenotypes. eLife, 11 e73671, 1-27. doi: 10.7554/elife.73671
Evaluating indirect genetic effects of siblings using singletons
Howe, Laurence J., Evans, David M., Hemani, Gibran, Davey Smith, George and Davies, Neil M. (2022). Evaluating indirect genetic effects of siblings using singletons. PLOS Genetics, 18 (7) e1010247, 1-16. doi: 10.1371/journal.pgen.1010247
Brito Nunes, Caroline, Huang, Peiyuan, Wang, Geng, Lundberg, Mischa, D’Urso, Shannon, Wootton, Robyn E., Borges, Maria Carolina, Lawlor, Deborah A., Warrington, Nicole M., Evans, David M., Hwang, Liang-Dar and Moen, Gunn-Helen (2022). Mendelian randomization study of maternal coffee consumption and its influence on birthweight, stillbirth, miscarriage, gestational age and pre-term birth. International Journal of Epidemiology, 52 (1), 1-13. doi: 10.1093/ije/dyac121
Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects
Howe, Laurence J., Nivard, Michel G., Morris, Tim T., Hansen, Ailin F., Rasheed, Humaira, Cho, Yoonsu, Chittoor, Geetha, Ahlskog, Rafael, Lind, Penelope A., Palviainen, Teemu, van der Zee, Matthijs D., Cheesman, Rosa, Mangino, Massimo, Wang, Yunzhang, Li, Shuai, Klaric, Lucija, Ratliff, Scott M., Bielak, Lawrence F., Nygaard, Marianne, Giannelis, Alexandros, Willoughby, Emily A., Reynolds, Chandra A., Balbona, Jared V., Andreassen, Ole A., Ask, Helga, Baras, Aris, Bauer, Christopher R., Boomsma, Dorret I., Campbell, Archie ... Within Family Consortium (2022). Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects. Nature Genetics, 54 (5), 581-592. doi: 10.1038/s41588-022-01062-7
DNA methylation in peripheral tissues and left-handedness
Odintsova, Veronika V., Suderman, Matthew, Hagenbeek, Fiona A., Caramaschi, Doretta, Hottenga, Jouke-Jan, Pool, René, Dolan, Conor V., Ligthart, Lannie, van Beijsterveldt, Catharina E M, Willemsen, Gonneke, de Geus, Eco J C, Beck, Jeffrey J., Ehli, Erik A., Cuellar-Partida, Gabriel, Evans, David M., Medland, Sarah E., Relton, Caroline L., Boomsma, Dorret I. and van Dongen, Jenny (2022). DNA methylation in peripheral tissues and left-handedness. Scientific Reports, 12 (1) 5606, 5606. doi: 10.1038/s41598-022-08998-0
Okbay, Aysu, Wu, Yeda, Wang, Nancy, Jayashankar, Hariharan, Bennett, Michael, Nehzati, Seyed Moeen, Sidorenko, Julia, Kweon, Hyeokmoon, Goldman, Grant, Gjorgjieva, Tamara, Jiang, Yunxuan, Hicks, Barry, Tian, Chao, Hinds, David A., Ahlskog, Rafael, Magnusson, Patrik K E, Oskarsson, Sven, Hayward, Caroline, Campbell, Archie, Porteous, David J., Freese, Jeremy, Herd, Pamela, Watson, Chelsea, Jala, Jonathan, Conley, Dalton, Koellinger, Philipp D., Johannesson, Magnus, Laibson, David, Meyer, Michelle N. ... Social Science Genetic Association Consortium (2022). Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals. Nature Genetics, 54 (4), 437-449. doi: 10.1038/s41588-022-01016-z
Bond, Tom A., Richmond, Rebecca C., Karhunen, Ville, Cuellar-Partida, Gabriel, Borges, Maria Carolina, Zuber, Verena, Couto Alves, Alexessander, Mason, Dan, Yang, Tiffany C., Gunter, Marc J., Dehghan, Abbas, Tzoulaki, Ioanna, Sebert, Sylvain, Evans, David M., Lewin, Alex M., O’Reilly, Paul F., Lawlor, Deborah A. and Järvelin, Marjo-Riitta (2022). Exploring the causal effect of maternal pregnancy adiposity on offspring adiposity: Mendelian randomisation using polygenic risk scores. BMC Medicine, 20 (1) 34, 1-16. doi: 10.1186/s12916-021-02216-w
Limb development genes underlie variation in human fingerprint patterns
Li, Jinxi, Glover, James D., Zhang, Haiguo, Peng, Meifang, Tan, Jingze, Mallick, Chandana Basu, Hou, Dan, Yang, Yajun, Wu, Sijie, Liu, Yu, Peng, Qianqian, Zheng, Shijie C., Crosse, Edie I., Medvinsky, Alexander, Anderson, Richard A., Brown, Helen, Yuan, Ziyu, Zhou, Shen, Xu, Yanqing, Kemp, John P., Ho, Yvonne Y.W., Loesch, Danuta Z., Wang, Lizhong, Li, Yingxiang, Tang, Senwei, Wu, Xiaoli, Walters, Robin G., Lin, Kuang, Meng, Ruogu ... Wang, Sijia (2022). Limb development genes underlie variation in human fingerprint patterns. Cell, 185 (1), 95-112.e18. doi: 10.1016/j.cell.2021.12.008
Wang, Geng, Bhatta, Laxmi, Moen, Gunn-Helen, Hwang, Liang-Dar, Kemp, John P., Bond, Tom A., Åsvold, Bjørn Olav, Brumpton, Ben, Evans, David M. and Warrington, Nicole M. (2022). Investigating a potential causal relationship between maternal blood pressure during pregnancy and future offspring cardiometabolic health. Hypertension, 79 (1), 170-177. doi: 10.1161/hypertensionaha.121.17701
Thompson, William D., Beaumont, Robin N., Kuang, Alan, Warrington, Nicole M., Ji, Yingjie, Tyrrell, Jess, Wood, Andrew R., Scholtens, Denise, Knight, Bridget A., Evans, David M., Lowe, Bill L., Santorelli, Gillian, Azad, Raq, Mason, Dan, Hattersley, Andrew T., Frayling, Timothy M., Yaghootkar, Hanieh, Borges, Maria-Carolina, Lawlor, Deborah A. and Freathy, Rachel M. (2021). Fetal alleles predisposing to metabolically favourable adiposity are associated with higher birth weight. Human Molecular Genetics, 31 (11), 1762-1775. doi: 10.1093/hmg/ddab356
Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis
Kim, Peter Geon, Niroula, Abhishek, Shkolnik, Veronica, McConkey, Marie, Lin, Amy E., Słabicki, Mikołaj, Kemp, John P., Bick, Alexander, Gibson, Christopher J., Griffin, Gabriel, Sekar, Aswin, Brooks, Daniel J., Wong, Waihay J., Cohen, Drew N., Uddin, Md Mesbah, Shin, Wesley J., Pirruccello, James, Tsai, Jonathan M., Agrawal, Mridul, Kiel, Douglas P., Bouxsein, Mary L., Richards, J. Brent, Evans, David M., Wein, Marc N., Charles, Julia F., Jaiswal, Siddhartha, Natarajan, Pradeep and Ebert, Benjamin L. (2021). Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis. Journal of Experimental Medicine, 218 (12) e20211872. doi: 10.1084/jem.20211872
Thompson, William D., Beaumont, Robin N., Kuang, Alan, Warrington, Nicole M., Ji, Yingjie, Tyrrell, Jessica, Wood, Andrew R., Scholtens, Denise M., Knight, Bridget A., Evans, David M., Lowe, William L., Santorelli, Gillian, Azad, Rafaq, Mason, Dan, Hattersley, Andrew T., Frayling, Timothy M., Yaghootkar, Hanieh, Borges, Maria Carolina, Lawlor, Deborah A. and Freathy, Rachel M. (2021). Higher maternal adiposity reduces offspring birthweight if associated with a metabolically favourable profile. Diabetologia, 64 (12), 2790-2802. doi: 10.1007/s00125-021-05570-9
Warrington, Nicole M., Hwang, Liang-Dar, Nivard, Michel G. and Evans, David M. (2021). Estimating direct and indirect genetic effects on offspring phenotypes using genome-wide summary results data. Nature Communications, 12 (1) 5420, 1-12. doi: 10.1038/s41467-021-25723-z
Cartwright, Rufus, Franklin, Larissa, Tikkinen, Kari A. O., Kalliala, Ilkka, Miotla, Pawel, Rechberger, Tomasz, Offiah, Ifeoma, McMahon, Steve, O'Reilly, Barry, Lince, Sabrina, Kluivers, Kirsten, Post, Wilke M., Poelmans, Geert, Palmer, Melody R., Wessells, Hunter, Wong, Andrew, Kuh, Diana, Kivimaki, Mika, Kumari, Meena, Mangino, Massimo, Spector, Tim, Guggenheim, Jeremy A., Lehne, Benjamin, De Silva, N. Maneka G., Evans, David M., Lawlor, Debbie, Karhunen, Ville, Männikkö, Minna, Marczak, Malgorzata ... Walley, Andrew (2021). Genome-wide association study identifies two novel loci associated with female stress and urgency urinary incontinence. The Journal of Urology, 206 (3), 679-687. doi: 10.1097/JU.0000000000001822
Ten simple rules for conducting a mendelian randomization study
Gagliano Taliun, Sarah A. and Evans, David M. (2021). Ten simple rules for conducting a mendelian randomization study. PLoS Computational Biology, 17 (8) e1009238, 1-8. doi: 10.1371/journal.pcbi.1009238
Shedding light on the genetics of fetal growth
Evans, David M. and Freathy, Rachel M. (2021). Shedding light on the genetics of fetal growth. Nature Genetics, 53 (8), 1120-1121. doi: 10.1038/s41588-021-00902-2
Cohen, Jeremy, Blumenthal, Antje, Cuellar-Partida, Gabriel, Evans, David M., Finfer, Simon, Li, Qiang, Ljungberg, Johanna, Myburgh, John, Peach, Elizabeth, Powell, Joseph, Rajbhandari, Dorrilyn, Rhodes, Andrew, Senabouth, Anne and Venkatesh, Balasubramanian (2021). The relationship between adrenocortical candidate gene expression and clinical response to hydrocortisone in patients with septic shock. Intensive Care Medicine, 47 (9), 974-983. doi: 10.1007/s00134-021-06464-5
Hwang, Liang-Dar, Mitchell, Brittany L., Medland, Sarah E., Martin, Nicholas G., Neale, Michael C. and Evans, David M. (2021). Correction to: The augmented Classical Twin Design: incorporating genome‐wide identity by descent sharing into twin studies in order to model violations of the equal environments assumption. Behavior Genetics, 51 (4), 441-442. doi: 10.1007/s10519-021-10065-9
Youlten, Scott E., Kemp, John P., Logan, John G., Ghirardello, Elena J., Sergio, Claudio M., Dack, Michael R. G., Guilfoyle, Siobhan E., Leitch, Victoria D., Butterfield, Natalie C., Komla-Ebri, Davide, Chai, Ryan C., Corr, Alexander P., Smith, James T., Mohanty, Sindhu T., Morris, John A., McDonald, Michelle M., Quinn, Julian M. W., McGlade, Amelia R., Bartonicek, Nenad, Jansson, Matt, Hatzikotoulas, Konstantinos, Irving, Melita D., Beleza-Meireles, Ana, Rivadeneira, Fernando, Duncan, Emma, Richards, J. Brent, Adams, David J., Lelliott, Christopher J., Brink, Robert ... Croucher, Peter I. (2021). Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease. Nature Communications, 12 (1) 2444, 1-21. doi: 10.1038/s41467-021-22517-1
Introduction to the special issue on statistical genetic methods for human complex traits
Evans, David M., Medland, Sarah E. and Prom-Wormley, Elizabeth (2021). Introduction to the special issue on statistical genetic methods for human complex traits. Behavior Genetics, 51 (3), 165-169. doi: 10.1007/s10519-021-10057-9
Direct and indirect effects of maternal, paternal, and offspring genotypes: Trio-GCTA
Eilertsen, Espen Moen, Jami, Eshim Shahid, McAdams, Tom A., Hannigan, Laurie J., Havdahl, Alexandra S., Magnus, Per, Evans, David M. and Ystrom, Eivind (2021). Direct and indirect effects of maternal, paternal, and offspring genotypes: Trio-GCTA. Behavior Genetics, 51 (2), 154-161. doi: 10.1007/s10519-020-10036-6
Simcoe, Mark, Valdes, Ana, Liu, Fan, Furlotte, Nicholas A., Evans, David M., Hemani, Gibran, Ring, Susan M., Smith, George Davey, Duffy, David L., Zhu, Gu, Gordon, Scott D., Medland, Sarah E., Vuckovic, Dragana, Girotto, Giorgia, Sala, Cinzia, Catamo, Eulalia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan, Hewitt, Alex, Wu, Wenting, Kraft, Peter, Hammond, Christopher J., Shi, Yuan, Chen, Yan ... the International Visible Trait Genetics Consortium (2021). Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color. Science Advances, 7 (11) abd1239, eabd1239. doi: 10.1126/sciadv.abd1239
Genome-wide association study of circulating interleukin 6 levels identifies novel loci
Ahluwalia, Tarunveer S., Prins, Bram P., Abdollahi, Mohammadreza, Armstrong, Nicola J., Aslibekyan, Stella, Bain, Lisa, Jefferis, Barbara, Baumert, Jens, Beekman, Marian, Ben-Shlomo, Yoav, Bis, Joshua C., Mitchell, Braxton D., de Geus, Eco, Delgado, Graciela E., Marek, Diana, Eriksson, Joel, Kajantie, Eero, Kanoni, Stavroula, Kemp, John P., Lu, Chen, Marioni, Riccardo E., McLachlan, Stela, Milaneschi, Yuri, Nolte, Ilja M., Petrelis, Alexandros M., Porcu, Eleonora, Sabater-Lleal, Maria, Naderi, Elnaz, Seppälä, Ilkka ... CHARGE Inflammation Working Group (2021). Genome-wide association study of circulating interleukin 6 levels identifies novel loci. Human Molecular Genetics, 30 (5), 393-409. doi: 10.1093/hmg/ddab023
Hwang, Liang-Dar, Mitchell, Brittany L., Medland, Sarah E., Martin, Nicholas G., Neale, Michael C. and Evans, David M. (2021). The augmented Classical Twin Design: incorporating genome‐wide identity by descent sharing into twin studies in order to model violations of the equal environments assumption. Behavior Genetics, 51 (3), 223-236. doi: 10.1007/s10519-021-10044-0
Tubbs, Justin D., Hwang, Liang-Dar, Luong, Justin, Evans, David M. and Sham, Pak C. (2021). Modeling parent-specific genetic nurture in families with missing parental genotypes: application to birthweight and BMI. Behavior Genetics, 51 (3), 289-300. doi: 10.1007/s10519-020-10040-w
Variants associated with HHIP expression have sexdifferential effects on lung function
Fawcett, Katherine A., Obeidat, Ma'en, Melbourne, Carl, Shrine, Nick, Guyatt, Anna L., John, Catherine, Luan, Jian'an, Richmond, Anne, Moksnes, Marta R., Granell, Raquel, Weiss, Stefan, Imboden, Medea, May-Wilson, Sebastian, Hysi, Pirro, Boutin, Thibaud S., Portas, Laura, Flexeder, Claudia, Harris, Sarah E., Wang, Carol A., Lyytikäinen, Leo-Pekka, Palviainen, Teemu, Foong, Rachel E., Keidel, Dirk, Minelli, Cosetta, Langenberg, Claudia, Bossé, Yohan, Berge, Maarten Van den, Sin, Don D., Hao, Ke ... Wain, Louise V. (2021). Variants associated with HHIP expression have sexdifferential effects on lung function. Wellcome Open Research, 5, 1-20. doi: 10.12688/WELLCOMEOPENRES.15846.2
Investigating the causal effect of maternal vitamin B12 and folate levels on offspring birthweight
Moen, Gunn-Helen, Beaumont, Robin N., Grarup, Niels, Sommer, Christine, Shields, Beverley M., Lawlor, Deborah A., Freathy, Rachel M., Evans, David M. and Warrington, Nicole M. (2020). Investigating the causal effect of maternal vitamin B12 and folate levels on offspring birthweight. International Journal of Epidemiology, 50 (1), 179-189. doi: 10.1093/ije/dyaa256
D'Urso, Shannon, Wang, Geng, Hwang, Liang-Dar, Moen, Gunn-Helen, Warrington, Nicole M. and Evans, David M. (2020). A cautionary note on using Mendelian randomization to examine the Barker hypothesis and Developmental Origins of Health and Disease (DOHaD). Journal of Developmental Origins of Health and Disease, 12 (5), 1-6. doi: 10.1017/S2040174420001105
Brumpton, Ben, Sanderson, Eleanor, Heilbron, Karl, Hartwig, Fernando Pires, Harrison, Sean, Vie, Gunnhild Åberge, Cho, Yoonsu, Howe, Laura D., Hughes, Amanda, Boomsma, Dorret I., Havdahl, Alexandra, Hopper, John, Neale, Michael, Nivard, Michel G., Pedersen, Nancy L., Reynolds, Chandra A., Tucker-Drob, Elliot M., Grotzinger, Andrew, Howe, Laurence, Morris, Tim, Li, Shuai, Brumpton, Ben, Sanderson, Eleanor, Heilbron, Karl, Hartwig, Fernando Pires, Harrison, Sean, Vie, Gunnhild Åberge, Cho, Yoonsu, Howe, Laura D. ... Davies, Neil M. (2020). Avoiding dynastic, assortative mating, and population stratification biases in Mendelian randomization through within-family analyses. Nature Communications, 11 (1) 3519, 3519. doi: 10.1038/s41467-020-17117-4
Hwang, Liang-Dar, Tubbs, Justin D., Luong, Justin, Lundberg, Mischa, Moen, Gunn-Helen, Wang, Geng, Warrington, Nicole M., Sham, Pak C., Cuellar-Partida, Gabriel and Evans, David M. (2020). Estimating indirect parental genetic effects on offspring phenotypes using virtual parental genotypes derived from sibling and half sibling pairs. PLoS Genetics, 16 (10) e1009154, e1009154. doi: 10.1371/journal.pgen.1009154
Moen, Gunn-Helen, Brumpton, Ben, Willer, Cristen, Åsvold, Bjørn Olav, Birkeland, Kåre I., Wang, Geng, Neale, Michael C., Freathy, Rachel M., Smith, George Davey, Lawlor, Deborah A., Kirkpatrick, Robert M., Warrington, Nicole M. and Evans, David M. (2020). Mendelian randomization study of maternal influences on birthweight and future cardiometabolic risk in the HUNT cohort. Nature Communications, 11 (1) 5404, 5404. doi: 10.1038/s41467-020-19257-z
Genome-wide association study identifies 48 common genetic variants associated with handedness
Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M. B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J. C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali ... Medland, Sarah E. (2020). Genome-wide association study identifies 48 common genetic variants associated with handedness. Nature Human Behaviour, 5 (1), 59-70. doi: 10.1038/s41562-020-00956-y
The Boulder Workshop Question Box
Evans, David M. (2020). The Boulder Workshop Question Box. Behavior Genetics, 51 (3), 181-190. doi: 10.1007/s10519-020-10022-y
Cohen, Jeremy, Bellomo, Rinaldo, Billot, Laurent, Burrell, Louise M., Evans, David M., Finfer, Simon, Hammond, Naomi E., Li, Qiang, Liu, David, McArthur, Colin, McWhinney, Brett, Moore, John, Myburgh, John, Peake, Sandra, Pretorius, Carel, Rajbhandari, Dorrilyn, Rhodes, Andrew, Saxena, Manoj, Ungerer, Jacobus P. J., Young, Morag J. and Venkatesh, Balasubramanian (2020). Plasma cortisol, aldosterone, and ascorbic acid concentrations in patients with septic shock do not predict treatment effect of hydrocortisone on mortality. A nested cohort study. American Journal of Respiratory and Critical Care Medicine, 202 (5), 700-707. doi: 10.1164/rccm.202002-0281OC
Septic shock: a genomewide association study and polygenic risk score analysis
D'Urso, Shannon, Rajbhandari, Dorrilyn, Peach, Elizabeth, De Guzman, Erika, Li, Qiang, Medland, Sarah E., Gordon, Scott D., Martin, Nicholas G., Ligthart, Symen, Brown, Matthew A., Powell, Joseph, McArthur, Colin, Rhodes, Andrew, Meyer, Jason, Finfer, Simon, Myburgh, John, Blumenthal, Antje, Cohen, Jeremy, Venkatesh, Balasubramanian, Cuellar-Partida, Gabriel and Evans, David M. (2020). Septic shock: a genomewide association study and polygenic risk score analysis. Twin Research and Human Genetics, 23 (4), 204-213. doi: 10.1017/thg.2020.60
Forgetta, Vincenzo, Keller-Baruch, Julyan, Forest, Marie, Durand, Audrey, Bhatnagar, Sahir, Kemp, John P., Nethander, Maria, Evans, Daniel, Morris, John A., Kiel, Douglas P., Rivadeneira, Fernando, Johansson, Helena, Harvey, Nicholas C., Mellström, Dan, Karlsson, Magnus, Cooper, Cyrus, Evans, David M., Clarke, Robert, Kanis, John A., Orwoll, Eric, McCloskey, Eugene V., Ohlsson, Claes, Pineau, Joelle, Leslie, William D., Greenwood, Celia M. T. and Richards, J. Brent (2020). Development of a polygenic risk score to improve screening for fracture risk: a genetic risk prediction study. PLOS Medicine, 17 (7) e1003152, e1003152. doi: 10.1371/journal.pmed.1003152
RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro
Loh, Nellie Y., Minchin, James E. N., Pinnick, Katherine E., Verma, Manu, Todorčević, Marijana, Denton, Nathan, Moustafa, Julia El-Sayed, Kemp, John P., Gregson, Celia L., Evans, David M., Neville, Matt J., Small, Kerrin S., McCarthy, Mark I., Mahajan, Anubha, Rawls, John F., Karpe, Fredrik and Christodoulides, Constantinos (2020). RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro. Nature Communications, 11 (1) 2797, 1-15. doi: 10.1038/s41467-020-16592-z
Hwang, Liang-Dar and Evans, David M. (2020). Proxy gene-by-environment Mendelian randomization for assessing causal effects of maternal exposures on offspring outcomes. International Journal of Epidemiology, 49 (4), 1218-1220. doi: 10.1093/ije/dyaa069
Evans, David, Medland, Sarah E. and Gillespie, Nathan (2020). Editorial. Twin Research and Human Genetics, 23 (2), 67-67. doi: 10.1017/thg.2020.45
Evans, David M. (2020). It's in the bloody genes!. Twin Research and Human Genetics, 23 (2), 96-97. doi: 10.1017/thg.2020.31
Fan, Qiao, Pozarickij, Alfred, Tan, Nicholas Y. Q., Guo, Xiaobo, Verhoeven, Virginie J. M., Vitart, Veronique, Guggenheim, Jeremy A., Miyake, Masahiro, Tideman, J. Willem L., Khawaja, Anthony P., Zhang, Liang, MacGregor, Stuart, Höhn, René, Chen, Peng, Biino, Ginevra, Wedenoja, Juho, Saffari, Seyed Ehsan, Tedja, Milly S., Xie, Jing, Lanca, Carla, Wang, Ya Xing, Sahebjada, Srujana, Mazur, Johanna, Mirshahi, Alireza, Martin, Nicholas G., Yazar, Seyhan, Pennell, Craig E., Yap, Maurice, Haarman, Annechien E. G. ... Evans, David M. (2020). Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. Communications Biology, 3 (1) 133, 133. doi: 10.1038/s42003-020-0802-y
Zheng, Jie, Brion, Marie-Jo, Kemp, John P., Warrington, Nicole M., Borges, Maria-Carolina, Hemani, Gibran, Richardson, Tom G., Rasheed, Humaira, Qiao, Zhen, Haycock, Philip, Ala-Korpela, Mika, Davey Smith, George, Tobias, Jon H. and Evans, David M. (2020). The effect of plasma lipids and lipid-lowering interventions on bone mineral density: a Mendelian randomization study. Journal of Bone and Mineral Research, 35 (7) jbmr.3989, 1224-1235. doi: 10.1002/jbmr.3989
Integrating family-based and Mendelian randomization designs
Hwang, Liang-Dar, Davies, Neil M., Warrington, Nicole M. and Evans, David M. (2020). Integrating family-based and Mendelian randomization designs. Cold Spring Harbor Perspectives in Medicine, 11 (3) a039503, 1-15. doi: 10.1101/cshperspect.a039503
Exploring the genetic relationship between hearing impairment and Alzheimer's disease
Mitchell, Brittany L., Thorp, Jackson G., Evans, David M., Nyholt, Dale R., Martin, Nicholas G. and Lupton, Michelle K. (2020). Exploring the genetic relationship between hearing impairment and Alzheimer's disease. Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring, 12 (1) e12108, 1-10. doi: 10.1002/dad2.12108
Jami, Eshim S., Eilertsen, Espen Moen, Hammerschlag, Anke R., Qiao, Zhen, Evans, David M., Ystrøm, Eivind, Bartels, Meike and Middeldorp, Christel M. (2020). Maternal and paternal effects on offspring internalizing problems: results from genetic and family-based analyses. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 183 (5), 258-267. doi: 10.1002/ajmg.b.32784
Variants associated withHHIP expression have sex-differential effects on lung function
Fawcett, Katherine A., Wain, Louise V., Obeidat, Ma'en, Melbourne, Carl, Shrine, Nick, Guyatt, Anna L., John, Catherine, Luan, Jian'an, Richmond, Anne, Moksnes, Marta R., Granell, Raquel, Weiss, Stefan, Imboden, Medea, May-Wilson, Sebastian, Hysi, Pirro, Boutin, Thibaud S., Portas, Laura, Flexeder, Claudia, Harris, Sarah E., Wang, Carol A., Lyytikäinen, Leo-Pekka, Palviainen, Teemu, Foong, Rachel E., Keidel, Dirk, Minelli, Cosetta, Langenberg, Claudia, Bossé, Yohan, Van den Berge, Maarten, Sin, Don D. ... Tobin, Martin D. (2020). Variants associated withHHIP expression have sex-differential effects on lung function. Wellcome Open Research, 5 111, 1-19. doi: 10.12688/wellcomeopenres.15846.1
Use of Mendelian randomization to examine causal inference in osteoporosis
Zheng, Jie, Frysz, Monika, Kemp, John P., Evans, David M., Smith, George Davey and Tobias, Jonathan H. (2019). Use of Mendelian randomization to examine causal inference in osteoporosis. Frontiers in Endocrinology, 10 807, 807. doi: 10.3389/fendo.2019.00807
Hartley, April, Paternoster, Lavinia, Evans, David M., Fraser, William D., Tang, Jonathan, Lawlor, Debbie A., Tobias, Jon H. and Gregson, Celia L. (2019). Metabolomics analysis in adults with high bone mass identifies a relationship between bone resorption and circulating citrate which replicates in the general population. Clinical Endocrinology, 92 (1) cen.14119, 29-37. doi: 10.1111/cen.14119
Within family Mendelian randomization studies
Davies, Neil M., Howe, Laurence J., Brumpton, Ben, Havdahl, Alexandra, Evans, David M. and Davey Smith, George (2019). Within family Mendelian randomization studies. Human Molecular Genetics, 28 (R2), R170-R179. doi: 10.1093/hmg/ddz204
Qiao, Zhen, Zheng, Jie, Helgeland, Øyvind, Vaudel, Marc, Johansson, Stefan, Njølstad, Pål R., Smith, George Davey, Warrington, Nicole M. and Evans, David M. (2019). Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. Behavior Genetics, 50 (1), 51-66. doi: 10.1007/s10519-019-09969-4
Hwang, Liang-Dar, Lawlor, Deborah A., Freathy, Rachel M., Evans, David M. and Warrington, Nicole M. (2019). Using a two-sample Mendelian randomization design to investigate a possible causal effect of maternal lipid concentrations on offspring birth weight. International Journal of Epidemiology, 48 (5), 1457-1467. doi: 10.1093/ije/dyz160
Romagnoni, Alberto, Jégou, Simon, Van Steen, Kristel, Wainrib, Gilles, Hugot, Jean-Pierre, Peyrin-Biroulet, Laurent, Chamaillard, Mathias, Colombel, Jean-Frederick, Cottone, Mario, D’Amato, Mauro, D’Incà, Renata, Halfvarson, Jonas, Henderson, Paul, Karban, Amir, Kennedy, Nicholas A., Khan, Mohammed Azam, Lémann, Marc, Levine, Arie, Massey, Dunecan, Milla, Monica, Ng, Sok Meng Evelyn, Oikonomou, Ioannis, Peeters, Harald, Proctor, Deborah D., Rahier, Jean-Francois, Rutgeerts, Paul, Seibold, Frank, Stronati, Laura, Taylor, Kirstin M. ... Whittaker, Pamela (2019). Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data. Scientific Reports, 9 (1) 10351. doi: 10.1038/s41598-019-46649-z
Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene
Brown, Matthew A., Duncan, Emma L. and Evans, David M. (2019). Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene. The New England Journal of Medicine, 380 (26), 2583-2583. doi: 10.1056/NEJMc1905282
Hysi, Pirro G., Valdes, Ana M., Liu, Fan, Furlotte, Nicholas A., Evans, David M., Bataille, Veronique, Visconti, Alessia, Hemani, Gibran, McMahon, George, Ring, Susan M., Smith, George Davey, Duffy, David L., Zhu, Gu, Gordon, Scott D., Medland, Sarah E., Lin, Bochao D., Willemsen, Gonneke, Jan Hottenga, Jouke, Vuckovic, Dragana, Girotto, Giorgia, Gandin, Ilaria, Sala, Cinzia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan ... Spector, Timothy D. (2019). Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability. Nature Genetics, 51 (7), 1190-1190. doi: 10.1038/s41588-019-0446-3
Bond, Tom A., Karhunen, Ville, Wielscher, Matthias, Auvinen, Juha, Männikkö, Minna, Keinänen-Kiukaanniemi, Sirkka, Gunter, Marc J., Felix, Janine F., Prokopenko, Inga, Yang, Jian, Visscher, Peter M., Evans, David M, Sebert, Sylvain, Lewin, Alex, O’Reilly, Paul F., Lawlor, Debbie A. and Jarvelin, Marjo-Riitta (2019). Exploring the role of genetic confounding in the association between maternal and offspring body mass index: evidence from three birth cohorts. International Journal of Epidemiology, 49 (1), 233-243. doi: 10.1093/ije/dyz095
Warrington, Nicole M., Beaumont, Robin N., Horikoshi, Momoko, Day, Felix R., Helgeland, Øyvind, Laurin, Charles, Bacelis, Jonas, Peng, Shouneng, Hao, Ke, Feenstra, Bjarke, Wood, Andrew R., Mahajan, Anubha, Tyrrell, Jessica, Robertson, Neil R., Rayner, N. William, Qiao, Zhen, Moen, Gunn-Helen, Vaudel, Marc, Marsit, Carmen J., Chen, Jia, Nodzenski, Michael, Schnurr, Theresia M., Zafarmand, Mohammad H., Bradfield, Jonathan P., Grarup, Niels, Kooijman, Marjolein N., Li-Gao, Ruifang, Geller, Frank, Paternoster, Lavinia ... Freathy, Rachel M. (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nature Genetics, 51 (5), 804-814. doi: 10.1038/s41588-019-0403-1
Author Correction: an atlas of genetic influences on osteoporosis in humans and mice
Morris, John A., Kemp, John P., Youlten, Scott E., Laurent, Laetitia, Logan, John G., Chai, Ryan C., Vulpescu, Nicholas A., Forgetta, Vincenzo, Kleinman, Aaron, Mohanty, Sindhu T., Sergio, C. Marcelo, Quinn, Julian, Nguyen-Yamamoto, Loan, Luco, Aimee-Lee, Vijay, Jinchu, Simon, Marie-Michelle, Pramatarova, Albena, Medina-Gomez, Carolina, Trajanoska, Katerina, Ghirardello, Elena J., Butterfield, Natalie C., Curry, Katharine F., Leitch, Victoria D., Sparkes, Penny C., Adoum, Anne-Tounsia, Mannan, Naila S., Komla-Ebri, Davide S. K., Pollard, Andrea S., Dewhurst, Hannah F. ... Richards, J. Brent (2019). Author Correction: an atlas of genetic influences on osteoporosis in humans and mice. Nature Genetics, 51 (5), 920-920. doi: 10.1038/s41588-019-0415-x
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis
Yang, Yongjie, van der Klaauw, Agatha A., Zhu, Liangru, Cacciottolo, Tessa M., He, Yanlin, Stadler, Lukas K. J., Wang, Chunmei, Xu, Pingwen, Saito, Kenji, Hinton, Antentor, Yan, Xiaofeng, Keogh, Julia M., Henning, Elana, Banton, Matthew C., Hendricks, Audrey E., Bochukova, Elena G., Mistry, Vanisha, Lawler, Katherine L., Liao, Lan, Xu, Jianming, O'Rahilly, Stephen, Tong, Qingchun, Barroso, Ines, O'Malley, Bert W., Farooqi, I. Sadaf, Xu, Yong, Balasubramanian, Senduran, Clapham, Peter, Coates, Guy ... Zhang, Weihua (2019). Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis. Nature Communications, 10 (1) 1718. doi: 10.1038/s41467-019-08737-6
Kemp, John P., Sayers, Adrian, Fraser, William D., Davey Smith, George, Ala-Korpela, Mika, Evans, David M. and Tobias, Jonathan H. (2019). A metabolic screen in adolescents reveals an association between circulating citrate and cortical bone mineral density. Journal of Bone and Mineral Research, 34 (7), e3697-1313. doi: 10.1002/jbmr.3697
Evans, David M., Moen, Gunn-Helen, Hwang, Liang-Dar, Lawlor, Debbie A. and Warrington, Nicole M. (2019). Elucidating the role of maternal environmental exposures on offspring health and disease using two-sample Mendelian randomization. International Journal of Epidemiology, 48 (3), 861-875. doi: 10.1093/ije/dyz019
An atlas of genetic influences on osteoporosis in humans and mice
Morris, John A., Kemp, John P., Youlten, Scott E., Laurent, Laetitia, Logan, John G., Chai, Ryan C., Vulpescu, Nicholas A., Forgetta, Vincenzo, Kleinman, Aaron, Mohanty, Sindhu T., Sergio, C. Marcelo, Quinn, Julian, Nguyen-Yamamoto, Loan, Luco, Aimee-Lee, Vijay, Jinchu, Simon, Marie-Michelle, Pramatarova, Albena, Medina-Gomez, Carolina, Trajanoska, Katerina, Ghirardello, Elena J., Butterfield, Natalie C., Curry, Katharine F., Leitch, Victoria D., Sparkes, Penny C., Adoum, Anne-Tounsia, Mannan, Naila S., Komla-Ebri, Davide S. K., Pollard, Andrea S., Dewhurst, Hannah F. ... Richards, J. Brent (2019). An atlas of genetic influences on osteoporosis in humans and mice. Nature Genetics, 51 (2), 258-266. doi: 10.1038/s41588-018-0302-x
Tedja, Milly S., Haarman, Annechien E. G., Meester-Smoor, Magda A., Kaprio, Jaakko, Mackey, David A., Guggenheim, Jeremy A., Hammond, Christopher J., Verhoeven, Virginie J. M., Klaver, Caroline C. W., for the CREAM Consortium, Bailey-Wilson, Joan E., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Biino, Ginevra, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching-Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cecile, Ding, Xiaohu, van Duijn, Cornelia M., Evans, David M., Fan, Qiao, Fossarello, Maurizio, Foster, Paul J. ... Zhou, Xiangtian (2019). IMI - Myopia Genetics Report. Investigative Ophthalmology & Visual Science, 60 (3), M89-M105. doi: 10.1167/iovs.18-25965
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
Haworth, Simon, Shapland, Chin Yang, Hayward, Caroline, Prins, Bram P., Felix, Janine F., Medina-Gomez, Carolina, Rivadeneira, Fernando, Wang, Carol, Ahluwalia, Tarunveer S., Vrijheid, Martine, Guxens, Mònica, Sunyer, Jordi, Tachmazidou, Ioanna, Walter, Klaudia, Iotchkova, Valentina, Jackson, Andrew, Cleal, Louise, Huffmann, Jennifer, Min, Josine L., Sass, Lærke, Timmers, Paul R. H. J., Turki, Saeed Al, Anderson, Carl A., Anney, Richard, Antony, Dinu, Artigas, María Soler, Ayub, Muhammad, Bala, Senduran, Barrett, Jeffrey C. ... St Pourcain, Beate (2019). Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications, 10 (1) 357. doi: 10.1038/s41467-018-07863-x
Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart ... Martin, Nicholas G. (2019). Publisher correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nature Communications, 10 (1) 299, 299. doi: 10.1038/s41467-018-08078-w
Calculating Power to Detect Maternal and Offspring Genetic Effects in Genetic Association Studies
Moen, Gunn-Helen, Hemani, Gibran, Warrington, Nicole M. and Evans, David M. (2019). Calculating Power to Detect Maternal and Offspring Genetic Effects in Genetic Association Studies. Behavior Genetics, 49 (3), 327-339. doi: 10.1007/s10519-018-9944-9
Demontis, Ditte, Walters, Raymond K., Martin, Joanna, Mattheisen, Manuel, Als, Thomas D., Agerbo, Esben, Baldursson, Gísli, Belliveau, Rich, Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Marie, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dumont, Ashley, Eriksson, Nicholas, Gandal, Michael, Goldstein, Jacqueline I., Grasby, Katrina L., Grove, Jakob, Gudmundsson, Olafur O., Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Howrigan, Daniel P., Huang, Hailiang, Maller, Julian B., Martin, Alicia R., Martin, Nicholas G., Moran, Jennifer ... Kemp, John P. (2019). Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nature Genetics, 51 (1), 63-75. doi: 10.1038/s41588-018-0269-7
Antibody response to common human viruses is shaped by genetic factors
Hayward, Tanisha A., Zhu, Gu, Warrington, Nicole M., Wong, Yide, Ryan, Rachael Y.M., Murray, Abella M., Haigh, Oscar, Martin, Nicholas G., Miles, John J. and Evans, David M. (2018). Antibody response to common human viruses is shaped by genetic factors. Journal of Allergy and Clinical Immunology, 143 (4), 1640-1643. doi: 10.1016/j.jaci.2018.11.039
Moen, Gunn-Helen, LeBlanc, Marissa, Sommer, Christine, Prasad, Rashmi B., Lekva, Tove, Normann, Kjersti R., Qvigstad, Elisabeth, Groop, Leif, Birkeland, Kåre I., Evans, David M. and Frøslie, Kathrine F. (2018). Genetic determinants of glucose levels in pregnancy: genetic risk scores analysis and GWAS in the Norwegian STORK cohort. European Journal of Endocrinology, 179 (6), 363-372. doi: 10.1530/EJE-18-0478
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Lui, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, Arfan M., Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart ... Martin, Nicholas G. (2018). Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nature Communications, 9 (1) 4774, 4774. doi: 10.1038/s41467-018-06649-5
Ligthart, Symen, Vaez, Ahmad, Võsa, Urmo, Stathopoulou, Maria G., de Vries, Paul S., Prins, Bram P., Van der Most, Peter J., Tanaka, Toshiko, Naderi, Elnaz, Rose, Lynda M., Wu, Ying, Karlsson, Robert, Barbalic, Maja, Lin, Honghuang, Pool, René, Zhu, Gu, Macé, Aurélien, Sidore, Carlo, Trompet, Stella, Mangino, Massimo, Sabater-Lleal, Maria, Kemp, John P., Abbasi, Ali, Kacprowski, Tim, Verweij, Niek, Smith, Albert V., Huang, Tao, Marzi, Carola, Feitosa, Mary F. ... Alizadeh, Behrooz Z. (2018). Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders. American Journal of Human Genetics, 103 (5), 691-706. doi: 10.1016/j.ajhg.2018.09.009
Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis
Cortes, Adrian, Gladman, Dafna, Raychaudhuri, Soumya, Cui, Jing, Wheeler, Lawrie, Brown, Matthew A., International Genetics of Ankylosing Spondylitis Consortium (IGAS) and Evans, David (2018). Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis. Annals of the Rheumatic Diseases, 77 (11), 1691-1692. doi: 10.1136/annrheumdis-2018-213413
Baird, Denis A., Evans, Daniel S., Kamanu, Frederick K., Gregory, Jennifer S., Saunders, Fiona R., Giuraniuc, Claudiu V., Barr, Rebecca J., Aspden, Richard M., Jenkins, Deborah, Kiel, Douglas P., Orwoll, Eric S., Cummings, Steven R., Lane, Nancy E., Mullin, Benjamin H., Williams, Frances M. K., Richards, J Brent, Wilson, Scott G., Spector, Tim D., Faber, Benjamin G., Lawlor, Deborah A., Grundberg, Elin, Ohlsson, Claes, Pettersson-Kymmer, Ulrika, Capellini, Terence D., Richard, Daniel, Beck, Thomas J., Evans, David M., Paternoster, Lavinia, Karasik, David and Tobias, Jonathan H. (2018). Identification of novel loci associated with hip shape: a meta-analysis of genomewide association studies. Journal of Bone and Mineral Research, 34 (2), 241-251. doi: 10.1002/jbmr.3605
Gregson, Celia L., Newell, Felicity, Leo, Paul J., Clark, Graeme R., Paternoster, Lavinia, Marshall, Mhairi, Forgetta, Vincenzo, Morris, John A., Ge, Bing, Bao, Xiao, Duncan Bassett, J. H., Williams, Graham R., Youlten, Scott E., Croucher, Peter I., Davey Smith, George, Evans, David M., Kemp, John P., Brown, Matthew A., Tobias, Jon H. and Duncan, Emma L. (2018). Genome-wide association study of extreme high bone mass: contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes. Bone, 114, 62-71. doi: 10.1016/j.bone.2018.06.001
Assessing the role of DNA methylation-derived neutrophil-to-lymphocyte ratio in rheumatoid arthritis
Ambatipudi, Srikant, Sharp, Gemma C., Clarke, Sarah L. N., Plant, Darren, Tobias, Jonathan H., Evans, David M., Barton, Anne and Belton, Caroline L. (2018). Assessing the role of DNA methylation-derived neutrophil-to-lymphocyte ratio in rheumatoid arthritis. Journal of Immunology Research, 2018 2624981, 1-10. doi: 10.1155/2018/2624981
Moen, Gunn-Helen, Qvigstad, Elisabeth, Birkeland, Kåre I., Evans, David M. and Sommer, Christine (2018). Are serum concentrations of vitamin B-12 causally related to cardiometabolic risk factors and disease? A Mendelian randomization study. The American Journal of Clinical Nutrition, 108 (2), 398-404. doi: 10.1093/ajcn/nqy101
Tedja, Milly S., Wojciechowski, Robert, Hysi, Pirro G., Eriksson, Nicholas, Furlotte, Nicholas A., Verhoeven, Virginie J. M., Iglesias, Adriana I., Meester-Smoor, Magda A., Tompson, Stuart W., Fan, Qiao, Khawaja, Anthony P., Cheng, Ching-Yu, Höhn, René, Yamashiro, Kenji, Wenocur, Adam, Grazal, Clare, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Jonas, Jost B., Wang, Ya Xing, Xie, Jing, Mitchell, Paul, Foster, Paul J., Klein, Barbara E. K., Klein, Ronald, Paterson, Andrew D., Hosseini, S. Mohsen, Shah, Rupal L. ... UK Biobank Eye and Vision Consortium (2018). Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nature Genetics, 50 (6), 834-848. doi: 10.1038/s41588-018-0127-7
Cuellar Partida, Gabriel, Laurin, Charles, Ring, Susan M., Gaunt, Tom R., McRae, Allan, Visscher, Peter M., Montgomery, Grant W., Martin, Nicholas G., Hemani, Gibran, Suderman, Matthew, Relton, Caroline L., Davey Smith, George and Evans, David M. (2018). Genome-wide survey of parent-of-origin effects on DNA methylation identifies candidate imprinted loci in humans. Human Molecular Genetics, 27 (16), 2927-2939. doi: 10.1093/hmg/ddy206
The MR-Base platform supports systematic causal inference across the human phenome
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Circulating Selenium and Prostate Cancer Risk: A Mendelian Randomization Analysis
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Hysi, Pirro G., Valdes, Ana M., Liu, Fan, Furlotte, Nicholas A., Evans, David M., Bataille, Veronique, Visconti, Alessia, Hemani, Gibran, McMahon, George, Ring, Susan M., Smith, George Davey, Duffy, David L., Zhu, Gu, Gordon, Scott D., Medland, Sarah E., Lin, Bochao D., Willemsen, Gonneke, Jan Hottenga, Jouke, Vuckovic, Dragana, Girotto, Giorgia, Gandin, Ilaria, Sala, Cinzia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan ... Spector, Timothy D. (2018). Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability. Nature Genetics, 50 (5), 652-656. doi: 10.1038/s41588-018-0100-5
Warrington, Nicole M., Shevroja, Enisa, Hemani, Gibran, Hysi, Pirro G., Jiang, Yunxuan, Auton, Adam, Boer, Cindy G., Mangino, Massimo, Wang, Carol A., Kemp, John P., McMahon, George, Medina-Gomez, Carolina, Hickey, Martha, Trajanoska, Katerina, Wolke, Dieter, Ikram, Arfan M., 23 and Me Research Team, Montgomery, Grant W., Felix, Janine F., Wright, Margaret J., Mackey, David A., Jaddoe, Vincent W., Martin, Nicholas G., Tung, Joyce Y., Davey Smith, George, Pennell, Craig E., Spector, Tim D., van Meurs, Joyce, Rivadeneira, Fernando ... Evans, David M. (2018). Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero. Human Molecular Genetics, 27 (11), 2025-2038. doi: 10.1093/hmg/ddy121
Elucidating the genetics of craniofacial shape
Evans, David M (2018). Elucidating the genetics of craniofacial shape. Nature Genetics, 50 (3), 319-321. doi: 10.1038/s41588-018-0065-4
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference
Corbin, Laura J., Tan, Vanessa Y., Hughes, David A., Wade, Kaitlin H., Paul, Dirk S., Tansey, Katherine E., Butcher, Frances, Dudbridge, Frank, Howson, Joanna M., Jallow, Momodou W., John, Catherine, Kingston, Nathalie, Lindgren, Cecilia M., O'Donavan, Michael, O'Rahilly, Stephen, Owen, Michael J., Palmer, Colin N. A., Pearson, Ewan R., Scott, Robert A., van Heel, David A., Whittaker, John, Frayling, Tim, Tobin, Martin D., Wain, Louise V., Smith, George Davey, Evans, David M., Karpe, Fredrik, McCarthy, Mark I., Danesh, John ... Timpson, Nicholas J. (2018). Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference. Nature Communications, 9 (1) 711, 711. doi: 10.1038/s41467-018-03109-y
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Warrington, Nicole M., Freathy, Rachel M., Neale, Michael C. and Evans, David M. (2018). Using structural equation modelling to jointly estimate maternal and fetal effects on birthweight in the UK Biobank. International Journal of Epidemiology, 47 (4), 1229-1241. doi: 10.1093/ije/dyy015
Qiao, Zhen, Powell, Joseph E. and Evans, David M. (2018). MHC-dependent mate selection within 872 spousal pairs of European ancestry from the health and retirement study. Genes, 9 (1) 53, 53. doi: 10.3390/genes9010053
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Trajanoska, Katerina, Morris, John A., Oei, Ling, Zheng, Hou-Feng, Evans, David M., Kiel, Douglas P., Ohlsson, Claes, Richards, J. Brent and Rivadeneira, Fernando (2018). Assessment of the genetic and clinical determinants of fracture risk: Genome wide association and mendelian randomisation study. BMJ, 362 k3225, k3225. doi: 10.1136/bmj.k3225
Rare variant analysis of human and rodent obesity genes in individuals with severe childhood obesity
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Recent Developments in Mendelian Randomization Studies
Zheng, Jie, Baird, Denis, Borges, Maria-Carolina, Bowden, Jack, Hemani, Gibran, Haycock, Philip, Evans, David M and Smith, George Davey (2017). Recent Developments in Mendelian Randomization Studies. Current epidemiology reports, 4 (4), 330-345. doi: 10.1007/s40471-017-0128-6
Rietschel, Liz, Streit, Fabian, Zhu, Gu, McAloney, Kerrie, Frank, Josef, Couvy-Duchesne, Baptiste, Witt, Stephanie H., Binz, Tina M., Bolton, Jennifer L., Hayward, Caroline, Direk, Nese, Anderson, Anna, Huffman, Jennifer, Wilson, James F., Campbell, Harry, Rudan, Igor, Wright, Alan, Hastie, Nicholas, Wild, Sarah H., Velders, Fleur P., Hofman, Albert, Uitterlinden, Andre G., Lahti, Jari, Räikkönen, Katri, Kajantie, Eero, Widen, Elisabeth, Palotie, Aarno, Eriksson, Johan G., Kaakinen, Marika ... Rietschel, Marcella (2017). Hair Cortisol in Twins: Heritability and Genetic Overlap with Psychological Variables and Stress-System Genes. Scientific Reports, 7 (1) 15351, 15351. doi: 10.1038/s41598-017-11852-3
Identification of atopic dermatitis subgroups in children from 2 longitudinal birth cohorts
Paternoster, Lavinia, Savenije, Olga E.M., Heron, Jon, Evans, David M., Vonk, Judith M., Brunekreef, Bert, Wijga, Alet H., Henderson, A. John, Koppelman, Gerard H. and Brown, Sara J. (2017). Identification of atopic dermatitis subgroups in children from 2 longitudinal birth cohorts. Journal of Allergy and Clinical Immunology, 141 (3), 964-971. doi: 10.1016/j.jaci.2017.09.044
Partitioning phenotypic variance due to parent-of-origin effects using genomic relatedness matrices
Laurin, Charles, Cuellar-Partida, Gabriel, Hemani, Gibran, Smith, George Davey, Yang, Jian and Evans, David M. (2017). Partitioning phenotypic variance due to parent-of-origin effects using genomic relatedness matrices. Behavior Genetics, 48 (1), 67-79. doi: 10.1007/s10519-017-9880-0
Maternal and fetal genetic contribution to gestational weight gain
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Hackinger, Sophie, Trajanoska, Katerina, Styrkarsdottir, Unnur, Zengini, Eleni, Steinberg, Julia, Ritchie, Graham R.S., Hatzikotoulas, Konstantinos, Gilly, Arthur, Evangelou, Evangelos, Kemp, John P., Evans, David, Ingvarsson, Thorvaldur, Jonsson, Helgi, Thorsteinsdottir, Unnur, Stefansson, Kari, McCaskie, Andrew W., Brooks, Roger A., Wilkinson, Jeremy M., Rivadeneira, Fernando and Zeggini, Eleftheria (2017). Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus. Human Molecular Genetics, 26 (19), 3850-3858. doi: 10.1093/hmg/ddx285
St Pourcain, Beate, Eaves, Lindon J, Ring, Susan M, Fisher, Simon E, Medland, Sarah, Evans, David M and Davey Smith, George (2017). Developmental Changes Within the Genetic Architecture of Social Communication Behavior: A Multivariate Study of Genetic Variance in Unrelated Individuals. Biological psychiatry, 83 (7), 598-606. doi: 10.1016/j.biopsych.2017.09.020
Collider scope: when selection bias can substantially influence observed associations
Munafò, Marcus R, Tilling, Kate, Taylor, Amy E, Evans, David M and Davey Smith, George (2017). Collider scope: when selection bias can substantially influence observed associations. International journal of epidemiology, 47 (1) dyx217, 226-235. doi: 10.1093/ije/dyx206
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Back to school to protect against coronary heart disease?
Richards, J. Brent and Evans, David M. (2017). Back to school to protect against coronary heart disease?. BMJ, 358 j3849, j3849. doi: 10.1136/bmj.j3849
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Luciano, Michelle, Hagenaars, Saskia P. , Cox, Simon R. , Hill, William David , Davies, Gail , Harris, Sarah E. , Deary, Ian J. , Evans, David M. , Martin, Nicholas G. , Wright, Margaret J. and Bates, Timothy C. (2017). Single Nucleotide Polymorphisms Associated with Reading Ability Show Connection to Socio-Economic Outcomes. Behavior Genetics, 47 (5), 469-479. doi: 10.1007/s10519-017-9859-x
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Haycock, Philip C., Burgess, Stephen, Nounu, Aayah, Zheng, Jie, Okoli, George N., Bowden, Jack, Wade, Kaitlin Hazel, Timpson, Nicholas J., Evans, David M., Willeit, Peter, Aviv, Abraham, Gaunt, Tomr., Hemani, Gibran, Mangino, Massimo, Ellis, Hayley Patricia, Kurian, Kathreena M., Pooley, Karen A., Eeles, Rosalind A., Lee, Jeffrey E., Fang, Shenying, Chen, Wei V., Law, Matthew H., Bowdler, Lisa M., Iles, Mark M., Yang, Qiong, Worrall, Bradford B., Markus, Hugh Stephen, Hung, Rayjean J., Amos, Chris I. ... Smith, George Davey (2017). Association between telomere length and risk of cancer and non-neoplastic diseases a Mendelian randomization study. JAMA Oncology, 3 (5), 636-651. doi: 10.1001/jamaoncol.2016.5945
Epigenome-wide association of DNA methylation in whole blood with bone mineral density
Morris, John A., Tsai, Pei-Chien, Joehanes, Roby, Zeng, Jie, Trajanoska, Katerina, Soerensen, Mette, Forgetta, Vincenzo, Castillo-Fernandez, Juan Edgar, Frost, Morten, Spector, Tim D., Christensen, Kaare, Christiansen, Lene, Rivadeneira, Fernando, Tobias, Jonathan H., Evans, David M., Kiel, Douglas P., Hsu, Yi-Hsiang, Richards, J. Brent and Bell, Jordana T. (2017). Epigenome-wide association of DNA methylation in whole blood with bone mineral density. Journal of Bone and Mineral Research, 32 (8), 1644-1650. doi: 10.1002/jbmr.3148
Pharmacogenetics of antidepressant response: a polygenic approach
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Stergiakouli, Evie, Davey Smith, George, Martin, Joanna, Skuse, David H., Viechtbauer, Wolfgang, Ring, Susan M., Ronald, Angelica, Evans, David E., Fisher, Simon E., Thapar, Anita and St Pourcain, Beate (2017). Shared genetic influences between dimensional ASD and ADHD symptoms during child and adolescent development. Molecular Autism, 8 (1) 18, 18. doi: 10.1186/s13229-017-0131-2
Wain, Louise V., Shrine, Nick, Artigas, María Soler, Erzurumluoglu, A. Mesut, Noyvert, Boris, Bossini-Castillo, Lara, Obeidat, Ma’en, Henry, Amanda P., Portelli, Michael A., Hall, Robert J., Billington, Charlotte K., Rimington, Tracy L., Fenech, Anthony G., John, Catherine, Blake, Tineka, Jackson, Victoria E., Allen, Richard J., Prins, Bram P., Campbell, Archie, Porteous, David J., Jarvelin, Marjo-Riitta, Wielscher, Matthias, James, Alan L., Hui, Jennie, Wareham, Nicholas J., Zhao, Jing Hua, Wilson, James F., Joshi, Peter K., Stubbe, Beate ... Tobin, Martin D. (2017). Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. Nature Genetics, 49 (3), 416-425. doi: 10.1038/ng.3787
Lawlor, Deborah, Richmond, Rebecca, Warrington, Nicole , McMahon, George, Davery Smith, George, Bowden, Jack and Evans, David M. (2017). Using Mendelian randomization to determine causal effects of maternal pregnancy (intrauterine) exposures on offspring outcomes: Sources of bias and methods for assessing them. Wellcome Open Research, 2 (11) 11, 11. doi: 10.12688/wellcomeopenres.10567.1
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Genome-wide associations for birth weight and correlations with adult disease
Horikoshi, Momoko, Beaumont, Robin N., Day, Felix R., Warrington, Nicole M., Kooijman, Marjolein N., Fernandez-Tajes, Juan, Feenstra, Bjarke, van Zuydam, Natalie R., Gaulton, Kyle J., Grarup, Niels, Bradfield, Jonathan P., Strachan, David P., Li-Gao, Ruifang, Ahluwalia, Tarunveer S., Kreiner, Eskil, Rueedi, Rico, Lyytikainen, Leo-Pekka, Cousminer, Diana L., Wu, Ying, Thiering, Elisabeth, Wang, Carol A., Have, Christian T., Hottenga, Jouke-Jan, Vilor-Tejedor, Natalia, Joshi, Peter K., Boh, Eileen Tai Hui, Ntalla, Ioanna, Pitkanen, Niina, Mahajan, Anubha ... Freathy, Rachel M. (2016). Genome-wide associations for birth weight and correlations with adult disease. Nature, 538 (7624), 248-252. doi: 10.1038/nature19806
Middeldorp, Christel M., Hammerschlag, Anke R., Ouwens, Klaasjan G., Groen-Blokhuis, Maria M., St Pourcain, Beate, Greven, Corina U., Pappa, Irene, Tiesler, Carla M. T., Ang, Wei, Nolte, Ilja M., Vilor-Tejedor, Natalia, Bacelis, Jonas, Ebejer, Jane L., Zhao, Huiying, Davies, Gareth E., Ehli, Erik A., Evans, David M., Fedko, Iryna O., Guxens, Monica, Hottenga, Jouke-Jan, Hudziak, James J., Jugessur, Astanand, Kemp, John P., Krapohl, Eva, Martin, Nicholas G., Murcia, Mario, Myhre, Ronny, Ormel, Johan, Ring, Susan M. ... Boomsma, Dorret I. (2016). A genome-wide association meta-analysis of attention-deficit/hyperactivity disorder symptoms in population-based pediatric cohorts. Journal of the American Academy of Child and Adolescent Psychiatry, 55 (10), 896-905.e6. doi: 10.1016/j.jaac.2016.05.025
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Kemp, John P., Sayers, Adrian, Smith, George Davey, Tobias, Jonathan H. and Evans, David M. (2016). Using Mendelian randomization to investigate a possible causal relationship between adiposity and increased bone mineral density at different skeletal sites in children. International Journal of Epidemiology, 45 (5), 1560-1572. doi: 10.1093/ije/dyw079
Why internal weights should be avoided (not only) in MR-Egger regression response
Kemp, John P., Sayers, Adrian, Smith, George Davey, Tobias, Jonathan H. and Evans, David M. (2016). Why internal weights should be avoided (not only) in MR-Egger regression response. International Journal of Epidemiology, 45 (5), 1678-1679. doi: 10.1093/ije/dyw241
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Genome-wide association study identifies 74 loci associated with educational attainment
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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
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Common genetic variants influence whorls in fingerprint patterns
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Systematic identification of genetic influences on methylation across the human life course
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Genetic evidence for causal relationships between maternal obesity-related traits and birth weight
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Association of forced vital capacity with the developmental gene NCOR2
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New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk
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Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation
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Integrative pathway genomics of lung function and airflow obstruction
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The UK10K project identifies rare variants in health and disease
The UK10K Consortium, Evans, David M., Kemp, John P., Visscher, Peter M. and Yang, Jian (2015). The UK10K project identifies rare variants in health and disease. Nature, 526 (7571), 82-89. doi: 10.1038/nature14962
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture
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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
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Are obesity risk genes associated with binge eating in adolescence?
Micali, Nadia, Field, Alison E., Treasure, Janet L. and Evans, David M. (2015). Are obesity risk genes associated with binge eating in adolescence?. Obesity, 23 (8), 1729-1736. doi: 10.1002/oby.21147
ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients
Robinson, Philip C., Costello, Mary-Ellen, Leo, Paul, Bradbury, Linda A., Hollis, Kelly, Cortes, Adrian, Lee, Seunghun, Joo, Kyung Bin, Shim, Seung-Cheol, Weisman, Michael, Ward, Michael, Zhou, Xiaodong, Garchon, Henri-Jean, Chiocchia, Gilles, Nossent, Johannes, Lie, Benedicte A., Forre, Oystein, Tuomilehto, Jaakko, Laiho, Kari, Jiang, Lei, Liu, Yu, Wu, Xin, Elewaut, Dirk, Burgos-Vargas, Ruben, Gensler, Lianne S., Stebbings, Simon, Haroon, Nigil, Mulero, Juan, Luis Fernandez-Sueiro, Jose ... Brown, Matthew A. (2015). ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients. Annals of the Rheumatic Diseases, 74 (8), 1627-1629. doi: 10.1136/annrheumdis-2015-207416
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A genome-wide approach to children's aggressive behavior: the EAGLE consortium
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Data Resource Profile: Accessible Resource for Integrated Epigenomic Studies (ARIES)
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Warrington, Nicole M., Kemp, John P., Tilling, Kate, Tobias, Jonathan H. and Evans, David M. (2015). Genetic variants in adult bone mineral density and fracture risk genes are associated with the rate of bone mineral density acquisition in adolescence. Human Molecular Genetics, 24 (14) ddv143, 4158-4166. doi: 10.1093/hmg/ddv143
A genome-wide association study of body mass index across early life and childhood
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Stergiakouli, Evie, Martin, Joanna, Hamshere, Marian L., Langley, Kate, Evans, David M., St Pourcain, Beate, Timpson, Nicholas J., Owen, Michael J., O'Donovan, Michael, Thapar, Anita and Davey Smith, George (2015). Shared genetic influences between attention-deficit/hyperactivity disorder (ADHD) traits in children and clinical ADHD. Journal of the American Academy of Child and Adolescent Psychiatry, 54 (4), 322-327. doi: 10.1016/j.jaac.2015.01.010
Genome-wide association study of blood lead shows multiple associations near ALAD
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Whole-genome sequence-based analysis of thyroid function
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Genomic influences on alcohol problems in a population-based sample of young adults
Edwards, Alexis C., Aliev, Fazil, Wolen, Aaron R., Salvatore, Jessica E., Gardner, Charles O., McMahon, George, Evans, David M., Macleod, John, Hickman, Matthew, Dick, Danielle M. and Kendler, Kenneth S. (2015). Genomic influences on alcohol problems in a population-based sample of young adults. Addiction, 110 (3), 461-470. doi: 10.1111/add.12822
A novel common variant in DCST2 is associated with length in early life and height in adulthood
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Gilbert, Rebecca, Bonilla, Carolina, Metcalfe, Chris, Lewis, Sarah, Evans, David M., Fraser, William D., Kemp, John P., Donovan, Jenny L., Hamdy, Freddie C., Neal, David E., Lane, J. Athene, Smith, George Davey, Lathrop, Mark and Martin, Richard M. (2015). Associations of vitamin D pathway genes with circulating 25-hydroxyvitamin-D, 1,25-dihydroxyvitamin-D, and prostate cancer: a nested case–control study. Cancer Causes and Control, 26 (2), 205-218. doi: 10.1007/s10552-014-0500-5
Assumption-free estimation of the genetic contribution to refractive error across childhood
Guggenheim, Jeremy A., St Pourcain, Beate, McMahon, George, Timpson, Nicholas J., Evans, David M. and Williams, Cathy (2015). Assumption-free estimation of the genetic contribution to refractive error across childhood. Molecular Vision, 21, 621-632.
Robinson, Philip C., Claushuis, Theodora A. M., Cortes, Adrian, Martin, Tammy M., Evans, David M., Leo, Paul, Mukhopadhyay, Pamela, Bradbury, Linda A., Cremin, Katie, Harris, Jessica, Maksymowych, Walter P., Inman, Robert D., Rahman, Proton, Haroon, Nigil, Gensler, Lianne, Powell, Joseph E., Van Der Horst-Bruinsma, Irene E., Hewitt, Alex W., Craig, Jamie E., Lim, Lyndell L., Wakefield, Denis, McCluskey, Peter, Voigt, Valentina, Fleming, Peter, Spondyloarthritis Research Consortium of Canada, Australio-Anglo-American Spondylitis Consortium, International Genetics of Ankylosing Spondylitis Consortium, Wellcome Trust Case Control Study 2, Degli-Esposti, Mariapia ... Brown, Matthew A. (2015). Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis. Arthritis and Rheumatology, 67 (1), 140-151. doi: 10.1002/art.38873
Mendelian randomization: new applications in the coming age of hypothesis free causality
Evans, David M. and Smith, George Davey (2015). Mendelian randomization: new applications in the coming age of hypothesis free causality. Annual Review of Genomics and Human Genetics, 16 (1), 327-350. doi: 10.1146/annurev-genom-090314-050016
St Pourcain, Beate, Haworth, C. M. A., Davis, O. S. P., Wang, Kai, Timpson, Nicholas J., Evans, David M., Kemp, John P., Ronald, Angelica, Price, Tom, Meaburn, Emma, Ring, Susan M., Golding, Jean, Hakonarson, Hakon, Plomin, R. and Smith, George Davey (2014). Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence. Human Genetics, 134 (6), 539-551. doi: 10.1007/s00439-014-1514-5
Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Hohn, Rene, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Makela, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beate, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polasek, Ozren, Campbell, Harry, Bencic, Goran ... Guggenheim, Jeremy A. (2014). Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Human Genetics, 134 (2), 131-146. doi: 10.1007/s00439-014-1500-y
Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene (ANTXR2)
Karaderi, T., Keidel, S. M., Pointon, J. J., Appleton, L. H., Brown, M. A., Evans, D. M. and Wordsworth, B. P. (2014). Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene (ANTXR2). Annals of the Rheumatic Diseases, 73 (11), 2054-2058. doi: 10.1136/annrheumdis-2014-205643
Stergiakouli, Evangelia, Gaillard, Romy, Tavare, Jeremy M., Balthasar, Nina, Loos, Ruth J., Taal, Hendrik R., Evans, David M., Rivadeneira, Fernando, St Pourcain, Beate, Uitterlinden, Andre G., Kemp, John P., Hofman, Albert, Ring, Susan M., Cole, Tim J., Jaddoe, Vincent W.V., Smith, George Davey and Timpson, Nicholas J. (2014). Genome-wide association study of height-adjusted BMI in childhood identifies functional variant in ADCY3. Obesity, 22 (10), 2252-2259. doi: 10.1002/oby.20840
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard ... Yang, Jian (2014). A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nature Communications, 5 (1) 4871, 1-10. doi: 10.1038/ncomms5871
Common variation near ROBO2 is associated with expressive vocabulary in infancy
St Pourcain, Beate, Cents, Rolieke A. M., Whitehouse, Andrew J. O., Haworth, Claire M. A., Davis, Oliver S. P., O'Reilly, Paul F., Roulstone, Susan, Wren, Yvonne, Ang, Qi W., Velders, Fleur P., Evans, David M., Kemp, John P., Warrington, Nicole M., Miller, Laura, Timpson, Nicholas J., Ring, Susan M., Verhulst, Frank C., Hofman, Albert, Rivadeneira, Fernando, Meaburn, Emma L., Price, Thomas S., Dale, Philip S., Pillas, Demetris, Yliherva, Anneli, Rodriguez, Alina, Golding, Jean, Jaddoe, Vincent W. V., Jarvelin, Marjo-Riitta, Plomin, Robert ... Smith, George Davey (2014). Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nature Communications, 5 (1) A4831, 1-9. doi: 10.1038/ncomms5831
Genome-wide screening for DNA variants associated with reading and language traits
Gialluisi, A., Newbury, D. F., Wilcutt, E. G., Olson, R. K., Defries, J. C., Brandler, W. M., Pennington, B. F., Smith, S. D., Scerri, T. S., Simpson, N. H., Luciano, M., Evans, D. M., Bates, T. C., Stein, J. F., Talcott, J. B., Monaco, A. P., Paracchini, S., Francks, C. and Fisher, S. E. (2014). Genome-wide screening for DNA variants associated with reading and language traits. Genes, Brain and Behavior, 13 (7), 686-701. doi: 10.1111/gbb.12158
Eaves, Lindon J., Pourcain, Beate St., Smith, George Davey, York, Timothy P. and Evans, David M. (2014). Resolving the effects of maternal and offspring genotype on dyadic outcomes in genome wide complex trait analysis ("M-GCTA"). Behavior Genetics, 44 (5), 445-455. doi: 10.1007/s10519-014-9666-6
Tansey, K. E., Rucker, J. J. H., Kavanagh, D. H., Guipponi, M., Perroud, N., Bondolfi, G., Domenici, E., Evans, D. M., Hausers, J., Henigsberg, N., Jerman, B., Maier, W., Mors, O., O'Donovan, M., Peters, T. J., Placentino, A., Rietschel, M., Souery, D., Aitchison, K. J., Craig, I., Farmer, A., Wendland, J. R., Malafosse, A., Lewis, G., Kapur, S., McGuffin, P. and Uher, R. (2014). Copy number variants and therapeutic response to antidepressant medication in major depressive disorder. Pharmacogenomics Journal, 14 (4), 395-399. doi: 10.1038/tpj.2013.51
Applying polygenic risk scores to postpartum depression
Byrne, Edna M., Carrillo-Roa, Tania, Penninx, Brenda W. J. H., Sallis, Hannah M., Viktorin, Alexander, Chapman, Brett, Henders, Anjali K., Pergadia, Michele L., Heath, Andrew C., Madden, Pamela A. F., Sullivan, Patrick F., Boschloo, Lynn, van Grootheest, Gerard, McMahon, George, Lawlor, Debbie A., Landen, Mikael, Lichtenstein, Paul, Magnusson, Patrik K. E., Evans, David M., Montgomery, Grant W., Boomsma, Dorret I., Martin, Nicholas G., Meltzer-Brody, Samantha and Wray, Naomi R. (2014). Applying polygenic risk scores to postpartum depression. Archives of Women's Mental Health, 17 (6), 519-528. doi: 10.1007/s00737-014-0428-5
Ward, Mary E., McMahon, George, St Pourcain, Beate, Evans, David M., Rietveld, Cornelius A., Benjamin, Daniel J., Koellinger, Philipp D., Cesarini, David, The Social Science Genetic Association Consortium, Smith, George Davey and Timpson, Nicholas J. (2014). Genetic variation associated with differential educational attainment in adults has anticipated associations with school performance in children. PLoS One, 9 (7) e100248, e100248.1-e100248.7. doi: 10.1371/journal.pone.0100248
Bolton, Jennifer L., Hayward, Caroline, Direk, Nese, Lewis, John G., Hammond, Geoffrey L., Hill, Lesley A., Anderson, Anna, Huffman, Jennifer, Wilson, James F., Campbell, Harry, Rudan, Igor, Wright, Alan, Hastie, Nicholas, Wild, Sarah H., Velders, Fleur P., Hofman, Albert, Uitterlinden, Andre G., Lahti, Jari, Raikkonen, Katri, Kajantie, Eero, Widen, Elisabeth, Palotie, Aarno, Eriksson, Johan G., Kaakinen, Marika, Jarvelin, Marjo-Riitta, Timpson, Nicholas J., Smith, George Davey, Ring, Susan M., Evans, David M. ... Walker, Brian R. (2014). Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin. PLoS Genetics, 10 (7) e1004474, 1-11. doi: 10.1371/journal.pgen.1004474
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
Effects of BMI, fat mass, and lean mass on asthma in childhood: a Mendelian Randomization Study
Granell, Raquel, Henderson, A. John, Evans, David M., Smith, George Davey, Ness, Andrew R., Lewis, Sarah, Palmer, Tom M. and Sterne, Jonathan A. C. (2014). Effects of BMI, fat mass, and lean mass on asthma in childhood: a Mendelian Randomization Study. PLoS Medicine, 11 (7) e1001669, e1001669. doi: 10.1371/journal.pmed.1001669
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
van den Berg, Stephanie M., de Moor, Marleen H. M., McGue, Matt, Pettersson, Erik, Terracciano, Antonio, Verweij, Karin J. H., Amin, Najaf, Derringer, Jaime, Esko, Tonu, van Grootheest, Gerard, Hansell, Narelle K., Huffman, Jennifer, Konte, Bettina, Lahti, Jari, Luciano, Michelle, Matteson, Lindsay K., Viktorin, Alexander, Wouda, Jasper, Agrawal, Arpana, Allik, Jueri, Bierut, Laura, Broms, Ulla, Campbell, Harry, Smith, George Davey, Eriksson, Johan G., Ferrucci, Luigi, Franke, Barbera, Fox, Jean-Paul, de Geus, Eco J. C. ... Boomsma, Dorret I. (2014). Harmonization of neuroticism and extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of item response theory. Behavior Genetics, 44 (4), 295-313. doi: 10.1007/s10519-014-9654-x
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
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
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
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
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
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
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
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
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
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
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
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
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. ... Baird P.N. (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
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
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
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment
Rietveld, Cornelius A., Medland, Sarah E., Derringer, Jaime, Yang, Jian, Esko, Tonu, Martin, Nicolas W., Westra, Harm-Jan, Shakhbazov, Konstantin, Abdellaoui, Abdel, Agrawal, Arpana, Albrecht, Eva, Alizadeh, Behrooz Z., Amin, Najaf, Bamard, John, Baumeister, Sebastian E., Benke, Kelly S., Bielak, Lawrence F., Boatman, Jeffrey A., Boyle, Patricia A., Davies, Gail, De Leeuw, Christiaan, Eklund, Niina, Evans, Daniel S., Ferhmann, Rudolf, Fischer, Krista, Gieger, Christian, Gjessing, Hakon K., Haegg, Sara, Harris, Jennifer R. ... Koellinger, Philipp D. (2013). GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science, 340 (6139), 1467-1471. doi: 10.1126/science.1235488
den Hoed, Marcel, Eijgelsheim, Mark, Esko, Tonu, Brundel, Bianca J. J. M., Peal, David S., Evans, David M., Nolte, Ilja M., Segre, Ayellet V., Holm, Hilma, Handsaker, Robert E., Westra, Harm-Jan, Johnson, Toby, Isaacs, Aaron, Yang, Jian, Lundby, Alicia, Zhao, Jing Hua, Kim, Young Jin, Go, Min Jin, Almgren, Peter, Bochud, Murielle, Boucher, Gabrielle, Cornelis, Marilyn C., Gudbjartsson, Daniel, Hadley, David, van der Harst, Pim, Hayward, Caroline, den Heijer, Martin, Igl, Wilmar, Jackson, Anne U. ... Loos, Ruth J. F. (2013). Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics, 45 (6), 621-634. doi: 10.1038/ng.2610
Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Moller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Monica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bonnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., EKim, Cecilia, Klopp, Norman, Lahti, Jari, Lye, Stephen J. ... Jaddoe, Vincent W. V. (2013). Corrigendum: Common variants at 12q15 and 12q24 are associated with infant head circumference (vol 44, pg 532, 2012). Nature Genetics, 45 (6), 713-713. doi: 10.1038/ng0613-713a
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
Evans, David M., Zhu, Gu, Dy, Veronica, Heath, Andrew C., Madden, Pamela A. F., Kemp, John P., McMahon, George, St Pourcain, Beate, Timpson, Nicholas J., Golding, Jean, Lawlor, Debbie A., Steer, Colin, Montgomery, Grant W., Martin, Nicholas G, Smith, George Davey and Whitfield, John B. (2013). Genome-wide association study identifies loci affecting blood copper, selenium and zinc.. Human Molecular Genetics, 22 (19), 3998-4006. doi: 10.1093/hmg/ddt239
Verhoeven, Virginie J. M., Hysi, Pirro G., Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A., Hoehn, Rene, MacGregor, Stuart, Hewitt, Alex W., Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M. Kamran, Buitendijk, Gabrielle H. S., McMahon, George, Kemp, John P., St Pourcain, Beate, Simpson, Claire L., Makela, Kari-Matti, Lehtimaki, Terho, Kahonen, Mika, Paterson, Andrew D., Hosseini, S. Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B., Parssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping ... Hammond, Christopher J. (2013). Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (vol 45, pg 314, 2013). Nature Genetics, 45 (6), 712-712. doi: 10.1038/ng0613-712b
Berndt, Sonja I., Gustafsson, Stefan, Maegi, Reedik, Ganna, Andrea, Wheeler, Eleanor, Feitosa, Mary F., Justice, Anne E., Monda, Keri L., Croteau-Chonka, Damien C., Day, Felix R., Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gentilini, Davide, Jackson, Anne U., Luan, Jian'an, Randall, Joshua C., Vedantam, Sailaja, Willer, Cristen J., Winkler, Thomas W., Wood, Andrew R., Workalemahu, Tsegaselassie, Hu, Yi-Juan, Lee, Sang Hong, Liang, Liming, Lin, Dan-Yu, Min, Josine L., Neale, Benjamin M., Thorleifsson, Gudmar ... Ingelsson, Erik (2013). Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics, 45 (5), 501-U69. doi: 10.1038/ng.2606
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Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes
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Association study of 25 type 2 diabetes related loci with measures of obesity in Indian sib pairs
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Hinds, David A., McMahon, George, Kiefer, Amy K., Do, Chuong B., Eriksson, Nicholas, Evans, David M., St Pourcain, Beate, Ring, Susan M., Mountain, Joanna L., Francke, Uta, Davey-Smith, George, Timpson, Nicholas J. and Tung, Joyce Y. (2013). A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. Nature Genetics, 45 (8), 907-911. doi: 10.1038/ng.2686
Guggenheim, Jeremy A., McMahon, George, Kemp, John P., Akhtar, Saeed, St Pourcain, Beate, Northstone, Kate, Ring, Susan M., Evans, David M., Smith, George Davey, Timpson, Nicholas J. and Williams, Cathy (2013). A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha gene as a quantitative trait locus for eye size in white Europeans. Molecular Vision, 19, 243-253.
A genome-wide association study for reading and language abilities in two population cohorts
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Common Variants in Left/Right Asymmetry Genes and Pathways Are Associated with Relative Hand Skill
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Common variation contributes to the genetic architecture of social communication traits
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Genetic influences on trajectories of systolic blood pressure across childhood and adolescence
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Genome-wide meta-analysis identifies new susceptibility loci for migraine
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Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates
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Seven newly identified loci for autoimmune thyroid disease
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Seventy-five genetic loci influencing the human red blood cell
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Power calculations in genetic studies
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A genome-wide association meta-analysis identifies new childhood obesity loci
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Common variants at 12q15 and 12q24 are associated with infant head circumference
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Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?
Joshi, Reeti, Reveille, John D., Brown, Matthew A., Weisman, Michael H., Ward, Michael M., Gensler, Lianne S., Wordsworth, B. Paul, Evans, David M. and Assassi, Shervin (2012). Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?. Arthritis Care and Research, 64 (5), 780-784. doi: 10.1002/acr.21601
Patterns of Cis regulatory variation in diverse human populations
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Genome-wide prediction of childhood asthma and related phenotypes in a longitudinal birth cohort
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Molecular and population analysis of natural selection on the human haptoglobin duplication
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Groom, Alexandra, Potter, Catherine, Swan, Daniel C., Fatemifar, Ghazaleh, Evans, David M., Ring, Susan M., Turcot, Valerie, Pearce, Mark S., Embleton, Nicholas D., Smith, George Davey, Mathers, John C. and Relton, Caroline L. (2012). Postnatal growth and DNA methylation are associated with differential gene expression of the TACSTD2 gene and childhood fat mass. Diabetes, 61 (2), 391-400. doi: 10.2337/db11-1039
New gene functions in megakaryopoiesis and platelet formation
Gieger, Christian, Radhakrishnan, Aparna, Cvejic, Ana, Tang, Weihong, Porcu, Eleonora, Pistis, Giorgio, Serbanovic-Canic, Jovana, Elling, Ulrich, Goodall, Alison H., Labrune, Yann, Lopez, Lorna M., Magi, Reedik, Meacham, Stuart, Okada, Yukinori, Pirastu, Nicola, Sorice, Rossella, Teumer, Alexander, Voss, Katrin, Zhang, Weihua, Ramirez-Solis, Ramiro, Bis, Joshua C., Ellinghaus, David, Gogele, Martin, Hottenga, Jouke-Jan, Langenberg, Claudia, Kovacs, Peter, O'Reilly, Paul F., Shin, So-Youn, Esko, Tonu ... Soranzo, Nicole (2011). New gene functions in megakaryopoiesis and platelet formation. Nature, 480 (7376), 201-208. doi: 10.1038/nature10659
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function
Artigas, M.S., Loth, D.W., Wain, L.V., Gharib, S.A., Obeidat, M., Tang, W.B., Zhai, G.J., Zhao, J.H., Smith, A.V., Huffman, J.E., Albrecht, E., Jackson, C.M., Evans, D.M., Cadby, G., Fornage, M., Manichaikul, A., Lopez, L.M., Johnson, T., Aldrich, M.C., Aspelund, T., Barroso, I., Campbell, H., Cassano, P.A., Couper, D.J., Eiriksdottir, G., Franceschini, N., Garcia, M., Gieger, C., Gislason, G.K. ... GIANT Consortium (2011). Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nature Genetics, 43 (11), 1082-1090. doi: 10.1038/ng.941
Genome-wide population-based association study of extremely overweight young adults - the GOYA study
Paternoster, Lavinia, Evans, David M., Aagaard Nohr, Ellen, Holst, Claus, Gaborieau, Valerie, Brennan, Paul, Prior Gjesing, Anette, Grarup, Niels, Witte, Daniel R., Jorgensen, Torben, Linneberg, Allan, Lauritzen, Torsten, Sandbaek, Anelli, Hansen, Torben, Pedersen, Oluf, Elliott, Katherine S., Kemp, John P., St. Pourcain, Beate, McMahon, George, Zelenika, Diana, Hager, Jorg, Lathrop, Mark, Timpson, Nicholas J., Smith, George Davey and Sorensen, Thorkild I. A. (2011). Genome-wide population-based association study of extremely overweight young adults - the GOYA study. PLoS One, 6 (9) e24303, e24303.1-e24303.9. doi: 10.1371/journal.pone.0024303
The Australo-Anglo-American Spondyloarthritis Consortium (TASC), Wellcome Trust Case Control Consortium 2 (WTCCC2), Evans, David M., Spencer, Chris C. A., Pointon, Jennifer J., Su, Zhan, Harvey, David, Kochan, Grazyna, Opperman, Udo, Dilthey, Alexander, Pirinen, Matti, Stone, Millicent A., Appleton, Louise, Moutsianis, Loukas, Leslie, Stephen, Wordsworth, Tom, Kenna, Tony J., Karaderi, Tugce, Thomas, Gethin P., Ward, Michael M., Weisman, Michael H., Farrar, Claire, Bradbury, Linda A., Danoy, Patrick, Inman, Robert D., Maksymowych, Walter, Gladman, Dafna, Rahman, Proton, Spondyloarthritis Research Consortium of Canada (SPARCC) ... Donnelly, Peter (2011). Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nature Genetics, 43 (8), 761-767. doi: 10.1038/ng.873
Obeidat, Ma’en, Wain, Louise V., Shrine, Nick, Kalsheker, Noor, Artigas, Maria Soler, Repapi, Emmanouela, Burton, Paul R, Johnson, Toby, Ramasamy, Adaikalavan, Zhao, Jing Hua, Zhai, Guangju, Huffman, Jennifer E., Vitart, Veronique, Albrecht, Eva, Igl, Wilmar, Hartikainen, Anna-Liisa, Pouta, Anneli, Cadby,Gemma, Hui, Jennie, Palmer, Lyle J., Hadley, David, McArdle, Wendy L., Rudnicka, Alicja R, Barroso, Ines, Loos, Ruth J.F., Wareham, Nicholas J., Mangino, Massimo, Soranzo, Nicole, Spector, Tim D. ... SpiroMeta Consortium (2011). A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample. PLoS ONE, 6 (5) e19382, e19382.1-e19382.9. doi: 10.1371/journal.pone.0019382
Barker, Adam, Sharp, Stephen J., Timpson, Nicholas J., Bouatia-Naji, Nabila, Warrington, Nicole M., Kanoni, Stavroula, Beilin, Lawrence J., Brage, Soren, Deloukas, Panos, Evans, David M., Grontved, Anders, Hassanali, Neelam, Lawlor, Deborah A., Lecoeur, Cecile, Loos, Ruth J.F., Lye, Stephen J., McCarthy, Mark I., Mori, Trevor A., Ndiaye, Ndeye Coumba, Newnham, John P., Ntalla, Ioanna, Pennell, Craig E., St Pourcain, Beate, Prokopenko, Inga, Ring, Susan M., Sattar, Naveed, Visvikis-Siest, Sophie, Dedoussis, George V., Palmer, Lyle J. ... Langenberg, Claudia (2011). Association of genetic loci with glucose levels in childhood and adolescence: A meta-analysis of over 6,000 children. Diabetes, 60 (6), 1805-1812. doi: 10.2337/db10-1575
Evans, D. M., Reveille, J. D., Brown, M., Chandran, V., Gladman, D. D., Martin, T. M., McGovern, D., Wordsworth, Paul and Inman, R. D. (2011). Correction: The genetic basis of spondyloarthritis: SPARTAN/IGAS 2009 (Journal of Rheumatology (2010) 37 (2626-2631)). Journal of Rheumatology, 38 (4). doi: 10.3899/jrheum.100892C1
Duncan, Emma L., Danoy, Patrick, Kemp, John P., Leo, Paul J., McCloskey, Eugene, Nicholson, Geoffrey C., Eastell, Richard, Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Reid, Ian R., Dennison, Elaine M., Wark, John, Richards, J. Brent, Uitterlinden, Andre G., Spector, Tim D., Esapa, Chris, Cox, Roger D., Brown, Steve D. M., Thakker, Rajesh V., Addison, Kathryn A., Bradbury, Linda A., Center, Jacqueline R., Cooper, Cyrus, Cremin, Catherine, Estrada, Karol, Felsenberg, Dieter, Glueer, Claus-C. ... Brown, Matthew A. (2011). Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genetics, 7 (4) e1001372, e1001372.1-e1001372.10. doi: 10.1371/journal.pgen.1001372
Kilpelainen T.O., Den Hoed M., Ong K.K., Grontved A., Brage S., Jameson K., Cooper C., Khaw K.-T., Ekelund U., Wareham N.J., Loos R.J.F., Freathy R.M., Mook-Kanamori D.O., Sovio U., Prokopenko I., Timpson N.J., Berry D.J., Warrington N.M., Widen E., Hottenga J.J., Kaakinen M., Lange L.A., Bradfield J.P., Kerkhof M., Marsh J.A., Magi R., Chen C.-M., Lyon H.N., Kirin M. ... McCarthy M.I. (2011). Obesity-susceptibility loci have a limited influence on birth weight: A meta-analysis of up to 28,219 individuals. American Journal of Clinical Nutrition, 93 (4), 851-860. doi: 10.3945/ajcn.110.000828
Wan, Yize I., Strachan, David P., Evans, David M., Henderson, John, McKeever, Tricia, Holloway, John W., Hall, Ian P. and Sayers, Ian (2011). A genome-wide association study to identify genetic determinants of atopy in subjects from the United Kingdom. Journal of Allergy and Clinical Immunology, 127 (1), 223-231. doi: 10.1016/j.jaci.2010.10.006
Adult height variants affect birth length and growth rate in children
Paternoster, Lavinia, Howe, Laura D., Tilling, Kate, Weedon, Michael N., Freathy, Rachel M., Frayling, Timothy M., Kemp, John P., Smith, George Davey, Timpson, Nicholas J., Ring, Susan M., Evans, David M. and Lawlor, Debbie A. (2011). Adult height variants affect birth length and growth rate in children. Human Molecular Genetics, 20 (20) ddr309, 4069-4075. doi: 10.1093/hmg/ddr309
Taylor, A. E., Sandeep, M. N., Janipalli, C. S., Giambartolomei, C., Evans, D. M., Kranthi Kumar, M. V., Vinay, D. G., Smitha, P., Gupta, V., Aruna, M., Kinra, S., Sullivan, R. M., Bowen, L., Timpson, N. J., Davey Smith, G., Dudbridge, F., Prabhakaran, D., Ben-Shlomo, Y., Reddy, K. S., Ebrahim, S. and Chandak, G. R. (2011). Associations of FTO and MC4R variants with obesity traits in Indians and the role of rural/urban environment as a possible effect modifier. Journal of Obesity, 2011 307542, 1-7. doi: 10.1155/2011/307542
Genome-wide association study identifies four loci associated with eruption of permanent teeth
Geller, Frank, Feenstra, Bjarke, Zhang, Hao, Shaffer, John R., Hansen, Thomas, Esserlind, Ann-Louise, Boyd, Heather A., Nohr, Ellen A., Timpson, Nicholas J., Fatemifar, Ghazaleh, Paternoster, Lavinia, Evans, David M., Weyant, Robert J., Levy, Steven M., Lathrop, Mark, Smith, George Davey, Murray, Jeffrey C., Olesen, Jes, Werge, Thomas, Marazita, Mary L., Sorensen, Thorkild I. A. and Melbye, Mads (2011). Genome-wide association study identifies four loci associated with eruption of permanent teeth. PLoS Genetics, 7 (9) e1002275, e1002275.1-e1002275.9. doi: 10.1371/journal.pgen.1002275
Rizzi, Thais S., Arias-Vasquez, Alejandro, Rommelse, Nanda, Kuntsi, Jonna, Anney, Richard, Asherson, Philip, Buitelaar, Jan, Banaschewski, Tobias, Ebstein, Richard, Ruano, Dina, van der Sluis, Sophie, Markunas, Christina A., Garrett, Melanie E., Ashley-Koch, Allison E., Kollins, Scott H., Anastopoulos, Arthur D., Hansell, Narelle K., Wright, Margaret J., Montgomery, Grant W., Martin, Nicholas G., Harris, Sarah E., Davies, Gail, Tenesa, Albert, Porteous, David J., Starr, John M., Deary, Ian J., St. Pourcain, Beate, Smith, George Davey, Timpson, Nicholas J. ... Posthuma, Danielle (2011). The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 156 (2), 145-157. doi: 10.1002/ajmg.b.31149
Strange, Amy, Capon, Francesca, Spencer, Chris C. A., Knight, Jo, Weale, Michael E., Allen, Michael H., Barton, Anne, Band, Gavin, Bellenguez, Céline, Bergboer, Judith G. M., Blackwell, Jenefer M., Bramon, Elvira, Bumpstead, Suzannah J., Casas, Juan P., Cork, Michael J., Corvin, Aiden, Deloukas, Panos, Dilthey, Alexander, Duncanson, Audrey, Edkins, Sarah, Estivill, Xavier, Fitzgerald, Oliver, Freeman, Colin, Giardina, Emiliano, Gray, Emma, Hofer, Angelika, Hüffmeier, Ulrike, Hunt, Sarah E., Irvine, Alan D. ... Trembath, Richard C. (2010). A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nature Genetics, 42 (11), 985-990. doi: 10.1038/ng.694
Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jaqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Wellcome Trust Case Control Consortium, Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L., Brown, Matthew A., Bradbury, Linda and Pointon, Jennifer (2010). Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9), 1021-1026. doi: 10.1038/ejhg.2010.55
Medland, Sarah E., Zayats,Tetyana, Glaser, Beate, Nyholt, Dale R., Gordon,Scott D., Wright, Margaret J., Montgomery, Grant W., Campbell, Megan J., Henders, Anjali K., Timpson, Nicholas J., Peltonen, Leena, Wolke, Dieter, Ring, Susan M., Deloukas, Panos, Martin, Nicholas G., Smith, George Davey and Evans, David M. (2010). A variant in LIN28B is Associated with 2D:4D finger-length ratio, a putative retrospective biomarker of prenatal testosterone exposure. American Journal of Human Genetics, 86 (4), 519-525. doi: 10.1016/j.ajhg.2010.02.017
Craddock, Nick, Hurles, Matthew E., Cardin, Niall, Pearson, Richard D., Plagnol, Vincent, Robson, Samuel, Vukcevic, Damjan, Barnes, Chris, Brown, Matthew A., Evans, David M. and The Wellcome Trust Case Control Consortium (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464 (7289), 713-720. doi: 10.1038/nature08979
Ruano, Dina, Abecasis, Goncalo R., Glaser, Beate, Lips, Esther S., Cornelisse, L. Niels, de Jong, Arthur P. H., Evans, David M., Smith, George Davey, Timpson, Nicolas J., Smit, August B., Heutink, Peter, Verhage, Mathhijs and Posthuma, Danielle (2010). Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability. American Journal of Human Genetics, 86 (2), 113-125. doi: 10.1016/j.ajhg.2009.12.006
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci
Reveille, John D., Sims, Anne-Marie, Danoy, Patrick, Evans, David M., Leo, Paul, Pointon, Jennifer J., Jin, Rui, Zhou, Xiaodong, Bradbury, Linda A., Appleton, Louise H., Davis, John C., Diekman, Laura, Doan, Tracey, Dowling, Alison, Duan, Ran, Duncan, Emma L., Farrar, Claire, Hadler, Johanna, Harvey, David, Karaderi, Tugce, Mogg, Rebecca, Pomeroy, Emma, Pryce, Karena, Taylor, Jacqueline, Savage, Laurie, Deloukas, Panos, Kumanduri, Vasudev, Peltonen, Leena, Ring, Sue M. ... Brown, Mathew A. (2010). Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nature Genetics, 42 (2), 123-127. doi: 10.1038/ng.513
Ferreira, Mar, Mangino, M, Brumme, CJ, Zhao, ZZ, Medland, SE, Wright, MJ, Nyholt, DR, Gordon, S, Campbell, M, McEvoy, BP, Henders, A, Evans, DM, Lanchbury, JS, Pereyra, F, Walker, BD, Haas, DW, Soranzo, N, Spector, TD, de Bakker, PIW, Frazer, IH, Montgomery, GW, Martin, NG and Int HIV Controllers Study (2010). Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control. American Journal of Human Genetics, 86 (1), 88-92. doi: 10.1016/j.ajhg.2009.12.008
Heid, Iris M., Henneman, Peter, Hicks, Andrew, Coassin, Stefan, Winkler, Thomas, Aulchenko, Yurii S., Fuchsberger, Christian, Song, Kijoung, Hivert, Marie-France, Waterworth, Dawn M., Timpson, Nicholas J., Richards, J. Brent, Perry, John R. B., Tanaka, Toshiko, Amin, Najaf, Kollerits, Barbara, Pichler, Irene, Oostra, Ben A., Thorand, Barbara, Frants, Rune R., Illig, Thomas, Dupuis, Josée, Glaser, Beate, Spector, Tim, Guralnik, Jack, Egan, Josephine M., Florez, Jose C., Evans, David M., Soranzo, Nicole ... van Duijn, Cornelia M. (2010). Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. Atherosclerosis, 208 (2), 412-420. doi: 10.1016/j.atherosclerosis.2009.11.035
Paternoster, Lavinia, Lorentzon, Mattias, Vandenput, Liesbeth, Karlsson, Magnus K., Ljunggren, Osten, Kindmark, Andreas, Mellstrom, Dan, Kemp, John P., Jarett, Caroline E., Holly, Jeff M. P., Sayers, Adrian, St. Pourcain, Beate, Timpson, Nicholas J., Deloukas, Panos, Smith, George Davey, Ring, Ssusan M., Evans, David M., Tobias, Jon H. and Ohlsson, Claes (2010). Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential Pleiotropic effects on bone. PLoS Genetics, 6 (11) e1001217, e1001217.1-e1001217.12. doi: 10.1371/journal.pgen.1001217
Pillas, Demetris, Hoggart, Clive J., Evans, David M., O'Reilly, Paul F., Sipila, Kirsi, Lahdesmaki, Raija, Millwood, Iona Y., Kaakinen, Marika., Netuveli, Gopalakrishnan, Blane, David, Charoen, Pimphen, Sovio, Ulla, Pouta, Anneli, Freimer, Nelson, Hartikainen, Anna-Lisa., Laitinen, Jaana, Vaara, Sarianna, Glaser, Beate, Crawford, Peter, Timpson, Nicholas J., Ring, Susan M., Deng, Guohong, Zhang, Weihua, McCarthy, Mark I., Deloukas, Panos, Peltonen, Leena, Elliott, Paul, Coin, Lachlan J. M., Smith, George D. and Jarvelin, Marjo-Riita (2010). Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. PLoS Genetics, 6 (2) e1000856, e1000856.1-e1000856.7. doi: 10.1371/journal.pgen.1000856
Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy
Bouzigon, Emmanuelle, Forabosco, Paola, Koppelman, Gerard H., Cookson, William O. C. M., Dizier, Marie-Helene, Duffy, David L., Evans, David M., Ferreira, Manuel A. R., Kere, Juha, Laitinen, Tarja, Malerba, Giovanni, Meyers, Deborah A., Moffatt, Miriam, Martin, Nicholas G, Ng, Mandy Y., Pignatti, Pier Franco, Wjst, Mathias, Kauffmann, Francine, Demenais, Florence and Lewis, Cathryn M. (2010). Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy. European Journal of Human Genetics, 18 (6), 700-706. doi: 10.1038/ejhg.2009.224
Paternoster, L., Ohlsson, C., Sayers, A., Vandenput, L., Lorentzon, M., Evans, D. M. and Tobias, J. H. (2010). OPG and RANK polymorphisms are both associated with cortical bone mineral density: Findings from a metaanalysis of the avon longitudinal study of parents and children and Gothenburg osteoporosis and obesity determinants cohorts. Journal of Clinical Endocrinology and Metabolism, 95 (8), 3940-3948. doi: 10.1210/jc.2010-0025
Triglyceride-mediated pathways and coronary disease: Collaborative analysis of 101 studies
Sarwar, N., Sandhu, M. S., Ricketts, S. L., Butterworth, Adam S., Di Angelantonio, Emanuele, Matthijs Boekholdt, S., Ouwehand, W., Watkins, H., Samani, N. J., Saleheen, D., Lawlor, Debbie, Reilly, Muredach P., Hingorani, A. D., Talmud, P. J., Danesh, J., Braund, P. S., Hall, A. S., Thompson, J., Marz, W., Trip, M., Lawlor, D. A., Casas, J. P., Ebrahim, S., Arsenault, B. J., Boekholdt, S. M., Khaw, K. T., Wareham, N. J., Grallert, H., Illig, T. ... Wood, A. M. (2010). Triglyceride-mediated pathways and coronary disease: Collaborative analysis of 101 studies. The Lancet, 375 (9726), 1634-1639. doi: 10.1016/S0140-6736(10)60545-4
Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight
Freathy, Rachel M., Mook-Kanamor, Dennis O., Sovio, Ulla, Prokopenko, Inga, Timpson, Nicholas J., Berry, Diane J., Warrington, Nicole M., Widen, Elisabeth, Hottenga, Jouke Jan, Kaakinen, Marika, Lange, Leslie A., Bradfield, Jonathan P., Kerkhof, Marjan, Marsh, Julie A., Magi, Reedik, Chen, Chih-Mei, Lyon, Helen N., Kirin, Mirna, Adair, Linda S., Aulchenko, Yurii S., Bennett, Amanda J., Borja, Judith B., Bouatia-Naji, Nabila, Charoen, Pimphen, Coin, Lachlan ..J. M., Cousminer, Diana L., De Geus, Eco J. C., Deloukas, Panos, Elliott, Paul ... McCarthy, Mark I. (2010). Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nature Genetics, 42 (5), 430-435. doi: 10.1038/ng.567
Genome-wide association study identifies five loci associated with lung function
Repapi, E., Sayers, I., Wain, L. V., Burton, P. R., Johnson, T., Obeidat, M., Zhao, J. H., Ramasamy, A., Evans, David M., Wellcome Trust Case Control Consortium, Brown, Matthew A. and Bradbury, Linda (2009). Genome-wide association study identifies five loci associated with lung function. Nature Genetics, 42 (1), 36-45. doi: 10.1038/ng.501
Investigating the genetic association between ERAP1 and ankylosing spondylitis
Harvey, David, Pointon, Jennifer J., Evans, David M., Karaderi, Tugce, Farrar, Claire, Appleton, Louise H., Sturrock, Roger D., Stone, Millicent A., Oppermann, Udo, Brown, Matthew A. and Wordsworth, B. Paul (2009). Investigating the genetic association between ERAP1 and ankylosing spondylitis. Human Molecular Genetics, 18 (21), 4204-4212. doi: 10.1093/hmg/ddp371
Sequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume
Ferreira, MAR, Hottenga, JJ, Warrington, NM, Medland, SE, Willemsen, G, Lawrence, RW, Gordon, S, de Geus, EJC, Henders, AK, Smit, JH, Campbell, MJ, Wallace, L, Evans, DM, Wright, MJ, Nyholt, DR, James, AL, Beilby, JP, Penninx, BW, Palmer, LJ, Frazer, IH, Montgomery, GW, Martin, NG and Boomsma, DI (2009). Sequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume. AMERICAN JOURNAL OF HUMAN GENETICS, 85 (5), 745-749. doi: 10.1016/j.ajhg.2009.10.005
Association and interaction analyses of eight genes under asthma linkage peaks
Ferreira, M. A. R., Zhao, Z. Z., Thomsen, S. F., James, M., Evans, D. M., Postmus, P. E., Kyvik, K. O., Backer, V., Boomsma, D. I., Martin, N. G., Montgomery, G. W. and Duffy, D. L. (2009). Association and interaction analyses of eight genes under asthma linkage peaks. Allergy, 64 (11), 1623-1628. doi: 10.1111/j.1398-9995.2009.02091.x
Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population
Pimentel-Santos, F. M., Ligeiro, D., Matos, M., Mourao, A. F., Sousa, E., Pinto, P., Ribeiro, A., Sousa, M., Barcelos, A., Godinho, F., Cruz, M., Fonseca, J. E., Guedes-Pinto, H., Trindade, H., Evans, D. M., Brown, M. A. and Branco, J. C. (2009). Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population. Clinical And Experimental Rheumatology, 27 (5), 800-806.
Genome-wide association study identifies eight loci associated with blood pressure.
Newton-Chen, C., Johnson, T., Gateva, V., Tobin, M. D., Bochud, M., Coin, L., Najjar, S. S., Zhao, J. H., et al, Wellcome Trust Case Control Consortium, Brown, Matthew A., Bradbury, Linda and Evans, David (2009). Genome-wide association study identifies eight loci associated with blood pressure.. Nature Genetics, 41 (6), 666-676. doi: 10.1038/ng.361
Timpson, Nicholas J., Tobias, Jon H., Richards, J. Brent, Soranzo, Nicole, Duncan, Emma L., Sims, Anne-Maree, Whittaker, Pamela, Kumanduri, Vasudev, Zhai, Guangju, Glaser, Beate, Eisman, John, Jones, Graeme, Nicholson, Geoff, Prince, Richard, Seeman, Ego, Spector, Tim D., Brown, Matthew A., Peltonen, Leena, Smith, George Davey, Deloukas, Panos and Evans, David M. (2009). Common variants in the region around Osterix are associated with bone mineral density and growth in childhood. Human Molecular Genetics, 18 (8), 1510-1517. doi: 10.1093/hmg/ddp052
A genome-wide association study reveals variants in ARL15 that influence adiponectin levels
Brent Richards, J., Waterworth, Dawn, O'Rahilly, Stephen, Hivert, Marie-France, Loos, Ruth J. F., Perry, John R. B., Tanaka, Toshiko, Timpson, Nicholas John, Semple, Robert K., Soranzo, Nicole, Song, Kijoung, Rocha, Nuno, Grundberg, Elin, Dupuis, Josee, Florez, Jose C., Langenberg, Claudia, Prokopenko, Inga, Saxena, Richa, Sladek, Robert, Aulchenko, Yurii, Evans, David, Waeber, Gerard, Erdmann, Jeanette, Burnett, Mary-Susan, Sattar, Naveed, Devaney, Joseph, Willenborg, Christina, Hingorani, Aroon, Witteman, Jaquelin C. M ... Spector, Tim D. (2009). A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. PLoS Genetics, 5 (12) e1000768, e1000768.1-e1000768.10. doi: 10.1371/journal.pgen.1000768
Chen, Lina, Smith, George Davey, Evans, David M., Cox, Angela, Lawlor, Debbie A., Donovan, Jenny, Yuan, Wei, Day, Ian N. M., Martin, Richard M., Lane, Athene, Rodriguez, Santi, Davis, Michael, Zuccolo, Luisa, Collin, Simon M., Hamdy, Freddie, Neal, David and Lewis, Sarah J. (2009). Genetic variants in the vitamin D receptor are associated with advanced prostate cancer at diagnosis: Findings from the prostate testing for cancer and treatment study and a systematic review. Cancer Epidemiology Biomarkers and Prevention, 18 (11), 2874-2881. doi: 10.1158/1055-9965.EPI-09-0544
Evans, David M., Visscher, Peter M. and Wray, Naomi R. (2009). Harnessing the information contained within genome-wide association studies to improve individual prediction of complex disease risk. Human Molecular Genetics, 18 (18), 3525-3531. doi: 10.1093/hmg/ddp295
Willer, Cristen J., Speliotes, Elizabeth K., Loos, Ruth J. F., Li, Shengxu, Lindgren, Cecilia M., Heid, Iris M., Berndt, Sonja I., Elliot, Amanda L., Jackson, Anne U., Lamina, Claudia, Lettre, Guillaume, Lim, Noha, Lyon, Helen N., McCarroll, Steven N., Papadakis, Konstantinos, Qi, Lu, Randall, Joshua C., Roccasecca, Rosa Maria, Sanna, Serena, Scheet, Paul, Weedon, Michael N., Wheeler, Eleanor, Zhao, Jing Hua, Jacobs, Leonie C., Prokopenko,, Soranzo, Nicole, Tanaka, Toshiko, Timpson, Nicholas J., Almgran, Peter ... GIANT consortium (2009). Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics, 41 (1), 25-34. doi: 10.1038/ng.287
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
Barrett, Jeffrey C., Wellcome Trust Case Control Consortium, Brown, Matthew A., Bradbury, Linda A., et al. and Evans, David (2008). Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nature Genetics, 40 (8), 955-962. doi: 10.1038/ng.175
Common variants near MC4R are associated with fat mass, weight and risk of obesity
Loos, Ruth J. F., Evans, David M., Wellcome Trust Case Control Consortium, Brown, Matthew A. and Bradbury, Linda A. (2008). Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nature Genetics, 40 (6), 768-775. doi: 10.1038/ng.140
Genome-wide association analysis identifies 20 loci that influence adult height
Weedon, Michael N., Evans, David M., Wellcome Trust Case Control Consortium, Brown, Matthew A. and Bradbury, Linda A. (2008). Genome-wide association analysis identifies 20 loci that influence adult height. Nature Genetics, 40 (5), 575-583. doi: 10.1038/ng.121
Gillespie, Nathan A., Zhu, Gu, Evans, David M., Medland, Sarah E., Wright, Margie J. and Martin, Nick G. (2008). A genome-wide scan for Eysenckian personality dimensions in adolescent twin sibships: Psychoticism, Extraversion, Neuroticism, and Lie. Journal of Personality, 76 (6), 1415-1445. doi: 10.1111/j.1467-6494.2008.00527.x
To what extent do scans of non-synonymous SNPs complement denser genome-wide association studies?
Evans, David M., Barrett, Jeffrey C. and Cardon, Lon R. (2008). To what extent do scans of non-synonymous SNPs complement denser genome-wide association studies?. European Journal of Human Genetics, 16 (6), 718-723. doi: 10.1038/sj.ejhg.5202011
Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A
Nejentsev, S., Howson, J. M. M., Walker, N. M., Szeszko, J., Field, S. F., Stevens, H. E., Reynolds, P., Hardy, M., King, E., Masters, J., Hulme, J., Maier, L. M., Smyth, D., Bailey, R., Cooper, J. D., Ribas, G., Campbell, R. D., The Wellcome Trust Case Control Consortium, Bradbury, Linda A., Brown, Matthew A. and Evans, David (2007). Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature, 450 (7171), 887-892. doi: 10.1038/nature06406
Rheumatoid arthritis association at 6q23
Thompson, Wendy, Wellcome Trust Case Control Consortium, Brown, Matthew A., Bradbury, Linda A., et al. and Evans, David (2007). Rheumatoid arthritis association at 6q23. Nature Genetics, 39 (12), 1431-1433. doi: 10.1038/ng.2007.32
Association scan of 14,000 nonsynonymous SNP's in four diseases identifies autoimmunity variants
Wellcome Trust Case control Consortium, The Australo-Anglo-American Spondylitis Consortium, Sims, A-M., Bradbury, L. A., Brown, M. A., Doan, T., Dowling, A. and Evans, D. (2007). Association scan of 14,000 nonsynonymous SNP's in four diseases identifies autoimmunity variants. Nature Genetics, 39 (11), 1329-1337. doi: 10.1038/ng.2007.17
A second generation human haplotype map of over 3.1 million SNPs
Frazer, K.A., Ballinger, D.G., Cox, D.R., Hinds, D.A., Stuve, L.L., Gibbs, R.A., Belmont, J.W., Boudreau, A., Hardenbol, P., Leal, S.M., Pasternak, S., Wheeler, D.A., Willis, T.D., Yu, F., Yang, H., Zeng, C., Gao, Y., Hu, H., Hu, W., Li, C., Lin, W., Liu, S., Pan, H., Tang, X., Wang, J., Wang, W., Yu, J., Zhang, B., Zhang, Q. ... Stewart, J. (2007). A second generation human haplotype map of over 3.1 million SNPs. Nature, 449 (7164), 851-861. doi: 10.1038/nature06258
Genome-wide detection and characterization of positive selection in human populations
Sabeti P.C., Varilly P., Fry B., Lohmueller J., Hostetter E., Cotsapas C., Xie X., Byrne E.H., McCarroll S.A., Gaudet R., Schaffner S.F., Lander E.S., Frazer K.A., Ballinger D.G., Cox D.R., Hinds D.A., Stuve L.L., Gibbs R.A., Belmont J.W., Boudreau A., Hardenbol P., Leal S.M., Pasternak S., Wheeler D.A., Willis T.D., Yu F., Yang H., Zeng C., Gao Y. ... Stewart J. (2007). Genome-wide detection and characterization of positive selection in human populations. Nature, 449 (7164), 913-918. doi: 10.1038/nature06250
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Bradbury, L. A., Brown, M. A. and Evans, D. (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447 (7145), 661-678. doi: 10.1038/nature05911
Genomewide scans of red cell indices suggest linkage on chromosome 6q23
Iliadou, A., Evans, D. M., Zhu, G., Duffy, D. L., Frazer, I. H., Montgomery, G. W. and Martin, N. G. (2007). Genomewide scans of red cell indices suggest linkage on chromosome 6q23. Journal of Medical Genetics, 44 (1), 24-30. doi: 10.1136/jmg.2006.043521
Genome-wide association: a promising start to a long race
Evans, David M. and Cardon, Lon R. (2006). Genome-wide association: a promising start to a long race. Trends in Genetics, 22 (7), 350-354. doi: 10.1016/j.tig.2006.05.001
Evans D.M., Morris A.P., Cardon L.R. and Sham P.C. (2006). A note on the power to detect transmission distortion in parent-child trios via the transmission disequilibrium test.. Behavior genetics, 36 (6), 947-950. doi: 10.1007/s10519-006-9087-2
Genome-wide scan of IQ finds significant linkage to a quantitative trait locus on 2q
Luciano, M., Wright, M. J., Duffy, D. L., Wainwright, M. A., Zhu, G., Evans, D. M., Geffen, G. M., Montgomery, G. W. and Martin, N. G. (2006). Genome-wide scan of IQ finds significant linkage to a quantitative trait locus on 2q. Behavior Genetics, 36 (1), 45-55. doi: 10.1007/s10519-005-9003-1
Two-stage two-locus models in genome-wide association
Evans D.M., Marchini J., Morris A.P. and Cardon L.R. (2006). Two-stage two-locus models in genome-wide association. PLoS Genetics, 2 (9), 1424-1432. doi: 10.1371/journal.pgen.0020157
A haplotype map of the human genome
Belmont J.W., Boudreau A., Leal S.M., Hardenbol P., Pasternak S., Wheeler D.A., Willis T.D., Yu F., Yang H., Gao Y., Hu H., Hu W., Li C., Lin W., Liu S., Pan H., Tang X., Wang J., Wang W., Yu J., Zhang B., Zhang Q., Zhao H., Zhou J., Barry R., Blumenstiel B., Camargo A., Defelice M., Faggart M. ... Stewart J. (2005). A haplotype map of the human genome. Nature, 437 (7063), 1299-1320. doi: 10.1038/nature04226
Teenage acne is influenced by genetic factors
Evans, D. M., Kirk, K. M., Nyholt, D. R., Novac, C. and Martin, N. G. (2005). Teenage acne is influenced by genetic factors. British Journal of Dermatology, 152 (3), 579-581. doi: 10.1111/j.1365-2133.2005.06387.x
Evans D.M. and Cardon L.R. (2005). A comparison of linkage disequilibrium patterns and estimated population recombination rates across multiple populations. American Journal of Human Genetics, 76 (4), 681-687. doi: 10.1086/429274
Lawrence, Robert, Evans, David M., Morris, Andrew P., Ke, Xiayi, Hunt, Sarah, Paolucci, Marta, Ragoussis, Jiannis, Deloukas, Panos, Bentley, David and Cardon, Lon R. (2005). Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants. Genome Research, 15 (11), 1503-1510. doi: 10.1101/gr.4217605
Genotype prediction using a dense map of SNPs
Evans, David M., Cardon, Lon R. and Morris, Andrew P. (2004). Genotype prediction using a dense map of SNPs. Genetic Epidemiology, 27 (4), 375-384. doi: 10.1002/gepi.20045
Evans, David M. and Cardon, Lon R. (2004). Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps. American Journal of Human Genetics, 75 (4), 687-692. doi: 10.1086/424696
Major quantitative trait locus for eosinophil count is located on chromosome 2q
Evans, DM, Zhu, G, Duffy, DL, Montgomery, GW, Frazer, IH and Martin, NG (2004). Major quantitative trait locus for eosinophil count is located on chromosome 2q. Journal of Allergy And Clinical Immunology, 114 (4), 826-830. doi: 10.1016/j.jaci.2004.05.060
Evans, David M. and Duffy, David L. (2004). A simulation study concerning the effect of varying the residual phenotypic correlation on the power of bivariate quantitative trait loci linkage analysis. Behavior Genetics, 34 (2), 135-141. doi: 10.1023/B:BEGE.0000013727.15845.f8
A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q
Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y. W., Hayward, N. K., Sturm, R. A., Trent, J. M. and Martin, N. G. (2004). A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q. Twin Research, 7 (2), 197-210. doi: 10.1375/136905204323016186
A major quantitative trait locus for CD4-CD8 ratio is located on chromosome 11
Evans, D. M., Zhu, G., Duffy, D. L., Frazer, I. H., Montgomery, G. W. and Martin, N. G. (2004). A major quantitative trait locus for CD4-CD8 ratio is located on chromosome 11. Genes and Immunity, 5 (7), 548-552. doi: 10.1038/sj.gene.6364126
Gillespie, Nathan A., Kirk, Katherine M., Evans, David M., Heath, Andrew C., Hickie, Ian B. and Martin, Nicholas G. (2004). Do the Genetic or Environmental Determinants of Anxiety and Depression Change with Age? A Longitudinal Study of Australian Twins. Twin Research, 7 (1), 39-53. doi: 10.1375/13690520460741435
Gillespie, Nathan A., Evans, David E., Wright, Margie M. and Martin, Nicholas G. (2004). Genetic Simplex Modeling of Eysenck's Dimensions of Personality in a Sample of Young Australian Twins. Twin Research, 7 (6), 637-648. doi: 10.1375/1369052042663814
Multivariate QTL linkage analysis suggests a QTL for platelet count on chromosome 19q
Evans, D. M., Zhu, G., Duffy, D. L., Montgomery, G. W., Frazer, IH and Martin, NG (2004). Multivariate QTL linkage analysis suggests a QTL for platelet count on chromosome 19q. European Journal of Human Genetics, 12 (10), 835-842. doi: 10.1038/sj.ejhg.5201248
Luciano, M., Wright, M. J., Geffen, G. M., Geffen, L. B., Smith, G. A., Evans, D. M. and Martin, N. G. (2003). A genetic two-factor model of the covariation among a subset of Multidimensional Aptitude Battery and Wechsler Adult Intelligence Scale - Revised subtests. Intelligence, 31 (6), 589-605. doi: 10.1016/S0160-2896(03)00057-6
Evans D.M. and Medland S.E. (2003). A note on including phenotypic information from monozygotic twins in variance components Qtl linkage analysis. Annals of Human Genetics, 67 (6), 613-617. doi: 10.1046/j.1529-8817.2003.00069.x
Evans, David M., Gillespie, N. A. and Martin, N. G. (2002). Biometrical Genetics. Biological Psychology, 61 (1-2), 33-51. doi: 10.1016/S0301-0511(02)00051-0
Developmental genetics of red cell indices during puberty: A longitudinal twin study
Evans, D. M., Frazer, I. H., Boomsma, D. I. and Martin, N. G. (2001). Developmental genetics of red cell indices during puberty: A longitudinal twin study. International Journal of Human Genetics, 1 (1), 41-53. doi: 10.1080/09723757.2001.11885735
Evans, David M. and Martin, Nicholas G. (2000). The validity of twin studies. GeneScreen, 1 (2), 77-79. doi: 10.1046/j.1466-9218.2000.00027.x
Genetic and environmental causes of variation in basal levels of blood cells
Evans, David M., Frazer, Ian H. and Martin, Nicholas G. (1999). Genetic and environmental causes of variation in basal levels of blood cells. Twin Research, 2 (4), 250-257. doi: 10.1375/twin.2.4.250
Geffen, Gina M., Wright, Margaret J., Green, Heather J., Gillespie, Nicole A., Smyth, David C., Evans, David M. and Geffen, Laurence B. (1997). Effects of memory load and distraction on performance and event-related slow potentials in a visuospatial working memory task. Journal of Cognitive Neuroscience, 9 (6), 743-757. doi: 10.1162/jocn.1997.9.6.743
Hsu, Yi-Hsiang, Xu, Hanfei, Zhang, Xiaoyu, Liu, Ching-Ti, Montasser, May, Fu, Mao, O'Connell, Jeff, Perry, James, Salimi, Shabnam, Streeten, Elizabeth, Mitchell, Braxton D., Crandall, Carolyn, Delaney, Chris, Justice, Anne, Karasik, David, Wallace, Robert, Evans, David M., Tobias, Jonathan H., Richards, Brent, Blangero, John, Wiggins, Kerri, Jackson, Rebecca and Kiel, Douglas (2019). A large-scale deep-coverage whole genome sequencing to identify less common and rare variants associated with BMD and fractures: the NHLBI Trans-Omics for Precision Medicine (TOPMED) study. Annual Meeting of the American Society for Bone and Mineral Research, Orlando, FL, United States, 20-23 September 2019. Hoboken, NJ, United States: Wiley-Blackwell Publishing. doi: 10.1002/jbmr.3936
Effects of assortative mating on estimates of SNP heritability
Keller, Matthew, de Candia, Teresa, Jones, Matt, Tahmasbi, Rasool, Evans, Luke, Evans, David, Eaves, Lindon, Yang, Jian, Visscher, Peter and Goddard, Mike (2019). Effects of assortative mating on estimates of SNP heritability. 25th World Congress of Psychiatric Genetics (WCPG), Orlando, FL, United States, 13-17 October 2017. Amsterdam, Netherlands: Elsevier. doi: 10.1016/j.euroneuro.2017.08.016
St Pourcain, Beate, Eaves, Lindon, Verhoef, Ellen, Shapland, Chin Yang, Ring, Susan M., Fisher, Simon E., Medland, Sarah E., Evans, David and Smith, George Davey (2019). Genes within the context of development: changes in genetic trait architectures during childhood and adolescence. 25th World Congress of Psychiatric Genetics (WCPG), Orlando, FL, United States, 13-17 October 2017. Amsterdam, Netherlands: Elsevier. doi: 10.1016/j.euroneuro.2017.06.071
Laurent, Laetitia, Zhou, Sirui, Forgetta, Vincenzo, Richards, J. Brent, Kemp, John P., Evans, David M., Pramatarova, Albena, Croucher, Peter I., Williams, Graham R., Bassett, J. H. Duncan and Goltzman, David (2019). Identification and Validation of Targets for Osteoporosis: Evidence from Whole exome Sequencing in 42,263 individuals, CRISPR-Cas9 and murine models. Annual Meeting of the American Society for Bone and Mineral Research, Orlando, FL, United States, 20-23 September, 2019. Hoboken, NJ United States: Wiley-Blackwell Publishing. doi: 10.1002/jbmr.3936
Shahid, Eshim, Eilertsen, Espen, Hammerschlag, Anke, Sallis, Hannah, Qiao, Zhen, Evans, David, Ystrom, Eivind, Bartels, Meike and Middeldorp, Christel M. (2019). Maternal and paternal effects on offspring internalising problems: findings from family data and extended GCTA analyses. 27th World Congress of Psychiatric Genetics (WCPG), Los Angeles, CA, United States, 26-31 October, 2019. Amsterdam, Netherlands: Elsevier BV. doi: 10.1016/j.euroneuro.2019.07.034
Evans, David, Warrington, Nicole, Partida, Gabriel Cuellar and Hwang, Daniel (2019). Using Mendelian randomization to estimate the causal effect of maternal (intrauterine) exposures on late onset offspring outcomes. 49th Annual Meeting of the Behavior Genetics Association (BGA), Stockholm, Sweden, 26-29 June, 2019. New York, NY, United States: Springer New York LLC. doi: 10.1007/s10519-019-09973-8
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic disease
Beaumont, Robin N., Warrington, Nicole M., Horikoshi, Momoko, Day, Felix R., Ong, Ken K., McCarthy, Mark I., Perry, John R. B., Freathy, Rachel M. and Evans, David M. (2018). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic disease. 27th Annual Meeting of the International-Genetic-Epidemiology-Society (IGES), San Diego, Ca, United States, 14-16 October 2018. Hoboken, NJ, United States: John Wiley & Sons.
Baird, D., Evans, D. S., Gregory, J. S., Saunders, F. R., Giuraniuc, C. V., Barr, R. J., Aspden, R. M., Kamanu, F. K., Kiel, D. P., Orwoll, E. S., Cummings, S. R., Lane, N. E., Mullins, B. H., Williams, F. M., Richards, B., Wilson, S. G., Spector, T. D., Faber, B. G., Lawlor, D. A., Beck, T. J., Evans, D. M., Paternoster, L., Karasikl, D. and Tobias, J. H. (2018). The genetic architecture of hip statistical shape models suggests that endochondral bone formation makes an important contribution to hip shape. OARSI World Congress on Osteoarthritis - Promoting Clinical and Basic Research in Osteoarthritis, Liverpool, England, 26-29 April 2018. London, United Kingdom: Elsevier.
Cathepsins B and S Are Novel Biomarkers for Bone Mineral Density: A Mendelian Randomization Study
Morris, John, Kemp, John, Evans, David and Richards, Brent (2017). Cathepsins B and S Are Novel Biomarkers for Bone Mineral Density: A Mendelian Randomization Study. Annual Meeting of the American-Society-for-Bone-and-Mineral-Research (ASBMR), Denver CO, United States, 8-11 September 2017. Hoboken, NJ United States: Wiley.
St Pourcain, Beate, Verhoef, Ellen, Fisher, Simon E., Stergiakouli, Evie, Evans, David E., Ring, Susan M. and Smith, George Davey (2017). Common polygenic risk for ASD and ADHD is associated with childhood linguistic traits within the general population, but with opposite effects. 24th World Congress of Psychiatric Genetics (WCPG), Jerusalem Israel, October 30-November 4 2016. Amsterdam, Netherlands: Elsevier. doi: 10.1016/j.euroneuro.2016.09.470
St Pourcain, Beate, Robinson, Elise, Bulik-Sullivan, Brendan, Anttila, Verneri, Maller, Julian, Skuse, David, Rings, Susan, Evans, David, Timpson, Nicholas, Ronald, Angelica, Grove, Jakob, Borglum, Anders, Mortensen, Preben Bo, Daly, Mark and Smiths, George Davey (2017). Developmental changes in genetic relationships between traits and disease: Analyses of genetic overlaps between social-communication difficulties, autism spectrum disorders and schizophrenia. 23rd Annual World Congress of Psychiatric Genetics (WCPG), Toronto Canada, Oct 16-20 2015. Amsterdam, Netherlands: Elsevier.
St Pourcain, Beate, Eaves, Lindon, Verhoef, Ellen, Shapland, Chin Yang, Ring, Susan M., Fisher, Simon E., Medland, Sarah, Evans, David and Smith, George Davey (2017). Estimating developmental changes within the genetic architecture of social communication traits: a multivariate study of genetic variance in unrelated individuals. 47th Annual Meeting of the Behavior-Genetics-Association (BGA), Oslo Norway, Jun 28-Jul 01, 2017. New York, NY, United States: Springer.
Genetic links between social-communication traits, ADHD traits and clinical ADHD during development
St Pourcain, Beate, Martin, Joanna, Stergiakouli, Evie, Robinson, Elise, Skuse, David, Susan, Ring, Ronald, Angelica, Evans, David, Timpson, Nicholas, Thapar, Anita and Smith, George Davey (2017). Genetic links between social-communication traits, ADHD traits and clinical ADHD during development. 23rd Annual World Congress of Psychiatric Genetics (WCPG), Toronto Canada, Oct 16-20 2015. Amsterdam, Netherlands: Elsevier.
Genome-wide association study identifies three novel genetic determinants of dental maturation
Grgic, Olja, Medina-Gomez, Carolina, Dhamo, Brunilda, Trajanoska, Katerina, Vucic, Strahinja, Ongkosuwito, Edwin M., Jaddoe, Vincent W. V., Uitterlinden, Andre G., Jarvelin, Marjo-Riitta, Timpson, Nicholas, Evans, David M., Wolvius, Eppo B. and Rivadeneira, Fernando (2017). Genome-wide association study identifies three novel genetic determinants of dental maturation. Annual Meeting of the American-Society-for-Bone-and-Mineral-Research (ASBMR), Denver, CO USA, 8-11 September 2017. Hoboken, NJ United States: Wiley-Blackwell Publishing.
Gregson, Celia, Newell, Felicity, Leo, Paul, Paternoster, Lavinia, Marshall, Mhairi, Clark, Graeme, Morris, John, Ge, Bing, Bao, Xiao, Bassett, Duncan, Williams, Graham, Youlten, Scott, Croucher, Peter, Smith, George Davey, Evans, David, Kemp, John, Brown, Matthew, Tobias, Jon and Duncan, Emma (2017). Genome-wide association study of extreme high bone mass identifies NPR3 as a novel BMD-associated gene and highlights the contribution of common genetic variation to extreme BMD phenotypes. Annual Meeting of the American-Society-for-Bone-and-Mineral-Research (ASBMR), Denver CO, United States, 8-11 September 2017. Hoboken, NJ United States: Wiley.
Performing Mendelian randomization using structural equation models
Evans, David and Warrington, Nicole (2017). Performing Mendelian randomization using structural equation models. 47th Annual Meeting of the Behavior-Genetics-Association (BGA), Oslo Norway, 28 June - 1 July 2017. New York NY United States: Springer.
St Pourcain, Beate, Eaves, Lindon, Evans, David M., Stergiakouli, Evie, Fisher, Simon E., Ring, Susan M., Carey, Gregory and George, Davey Smith (2017). Trait-specific patterns of common genetic factors influence social-communication difficulties and ADHD symptoms during child and adolescent development. 24th World Congress of Psychiatric Genetics (WCPG), Jerusalem Israel, October 30 - November 4 2016. Amsterdam, Netherlands: Elsevier. doi: 10.1016/j.euroneuro.2016.09.411
Brion, Marie-Jo, Benyamin, Beben, Smith, George Davey, McGrath, John and Evans, David (2016). Can Mendelian randomization inform drug development research for neurobehavioural conditions? A study of Alzheimer's disease. 46th Annual Meeting of the Behavior-Genetics-Association, Brisbane Australia, Jun 20-23, 2016. NEW YORK: SPRINGER.
Detecting parent of origin effects using GREML of transmitted genotypes
Laurin, Charles, Hemani, Gibran and Evans, David (2016). Detecting parent of origin effects using GREML of transmitted genotypes. 46th Annual Meeting of the Behavior-Genetics-Association, Brisbane Australia, Jun 20-23, 2016. NEW YORK: SPRINGER.
Warrington, Nicole, Hemani, Gibran, Hysi, Pirro, Mangino, Massimo, McMahon, George, Hickey, Martha, Wolke, Dieter, Montgomery, Grant, Pennell, Craig, Spector, Tim, Martin, Nicholas, Medland, Sarah and Evans, David (2016). Genome-wide association study of 6,939 individuals identifies five novel loci and suggests that prenatal exposure to testosterone is not a major determinant of individual differences in 2D:4D finger ratio. 46th Annual Meeting of the Behavior-Genetics-Association, Brisbane Australia, Jun 20-23, 2016. NEW YORK: SPRINGER.
Zheng, Jie, Haycock, Philip, Hemani, Gibran, Elsworth, Benjamin, Shihab, Hashem, Laurin, Charles, Erzurumluoglu, Mesut, Howe, Laurence, Wade, Kaitlin, Warrington, Nicole, Finucane, Hilary, Price, Alkes, Anttila, Verneri, Paternoster, Lavinia, Martin, Richard, Relton, Caroline, Gaunt, Tom, Smith, George Davey, Neale, Benjamin and Evans, David (2016). LD hub and MR-base: online platforms for preforming LD score regression and Mendelian randomization analysis using GWAS summary data. 46th Annual Meeting of the Behavior-Genetics-Association, Brisbane Australia, Jun 20-23, 2016. NEW YORK: SPRINGER.
Locus Discovery in Genome-wide Association Studies using Bivariate Analysis
Warrington, Nicole M. and Evans, David M. (2016). Locus Discovery in Genome-wide Association Studies using Bivariate Analysis. Annual Meeting of the International-Genetic-Epidemiology-Society, Toronto Canada, Oct 24-26, 2016. HOBOKEN: WILEY-BLACKWELL.
New opportunities for structural equation modelling in the post GWAS era
Evans, David (2016). New opportunities for structural equation modelling in the post GWAS era. 46th Annual Meeting of the Behavior-Genetics-Association, Brisbane Australia, Jun 20-23, 2016. NEW YORK: SPRINGER.
St Pourcain, Beate, Eaves, Lindon, Evans, David, Fisher, Simon, Carey, Greg and Smith, George Davey (2016). Trait-specific patterns of common genetic factors influence social communication difficulties and ADHD symptoms during development. 46th Annual Meeting of the Behavior-Genetics-Association, Brisbane Australia, Jun 20-23, 2016. NEW YORK: SPRINGER.
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
Robinson, Elise B., St Pourcain, Beate, Anttilal, Verneri, Kosmicki, Jack, Bulik-Sullivan, Brendan, Grove, Jakob, Maller, Julian, Samocha, Kaitlin E., Sanders, Stephan, Ripke, Stephan, Martin, Joanna, Hollegaard, Mads V., Werge, Thomas, Hougaard, David M., Neale, Benjamin M., Evans, David M., Skuse, David, Mortensen, Preben Bo, Borglum, Anders D., Ronald, Angelica, Smith, George Davey and Daly, Mark J. (2016). Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. 71st Annual Scientific Convention and Meeting, Unknown, Unknown. Philadelphia, PA United States: Elsevier.
De Smit, Elisabeth, Hill, Catherine, Merriman, Tony, Cremin, Katie, Leo, Paul, McKelvie, Penny, Evans, David, Brown, Matta and Hewitt, Alex W. (2016). Investigation into the genetic architecture of Giant Cell Arteritis through a genome-wide association study. Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO), Seattle, WA, United States, May 01-05, 2016. Rockville, MD, United States: Association for Research in Vision and Ophthalmology.
De Smit, Elisabeth, Clarke, Linda, Ngygen, Khoa, Shuey, Neil, Hill, Catherine, Anderson, Lisa, Evans, David, Brown, Matt A., Powell, Joseph and Hewitt, Alex W. (2016). Longitudinal Expression Profiling of T Lymphocytes in Patients with Active to Quiescent Giant Cell Arteritis. The Royal Australian and New Zealand College of Ophthalmologists, 48th Annual Scientific Congress, Melbourne, VIC Australia, 19–23 November 2016. Richmond, VIC Australia: Wiley-Blackwell.
Kemp, John, Sayers, Adrian, Smith, George Davey, Tobias, Jonathan and Evans, David (2016). Using Mendelian randomization to investigate a possible causal relationship between adiposity and increased bone mineral density at different skeletal sites in children. 46th Annual Meeting of the Behavior Genetics Association, Brisbane, Australia, 20-23 June 2016. New York, NY, United States: Springer.
Paternoster, L., Standl, M., Baurecht, H., Evans, D. M. and Weidinger, S. (2015). Multi-ethnic genome-wide association study of 21,000 cases and 95,000 controls identifies 11 novel risk loci for atopic dermatitis. 45th Annual Meeting of the European Society for Dermatological Research, Rotterdam, the Netherlands, 09-12 September 2015. London, United Kingdom: Nature Publishing Group. doi: 10.1038/jid.2015.271
Katikireddi, V, Baker, P. and Evans, D. (2015). The relationship between lower back pain, inflammatory markers and genetic variants robustly associated with risk of Ankylosing Spondylitis in a population-based cohort. Australian Rheumatology Associationin conjunction with Rheumatology Health Professionals Association, 56th Annual Scientific Meeting, Adelaide, Australia, 23–26 May, 2015. Richmond, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/imj.12752
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.
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.
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
Kemp, John P., Sayers, Adrian, Evans, David M., Paternoster, Lavinia, Deere, Kevin, Lorentzon, Mattias, Lehtimaki, Terho, Eriksson, Joel, Kahonen, Mika, Raitakari, Olli, Laaksonen, Marika, Sievanen, Harri, Viikari, Jorma, Lyytikainen, Leo-Pekka, Fraser, William D., Vandenput, Liesbeth, Ohlsson, Claes and Tobias, Jonathan H. (2013). 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. Annual Meeting of the American Society for Bone and Mineral Research, Baltimore, MD, United States, 4-7 October 2013. Hoboken, NJ, United States: Wiley-Blackwell.
Genome-wide association for reading and language abilities in two population cohorts
Luciano, Michelle, Evans, David, Hansell, Narelle, Medland, Sarah, Montgomery, Grant, Martin, Nick G., Wright, Margaret and Bates, Timothy (2013). Genome-wide association for reading and language abilities in two population cohorts. 43rd Annual Meeting of the Behavior-Genetics-Association, Marseille, France, 28 June-2 July 2013. New York, NY United States: Springer New York.
Tobias, Jonathan, Ohlsson, Claes, Paternoster, Lavinia, Lehtimaki, Terho, Kahonen, Mika, Raitakari, Olli, Laaksonen, Marika, Viikari, Jorma, Mellstrom, Dan, Moverare-Skitric, Sofia, Karlsson, Magnus, Ljunggren, Osten, Kemp, John P., Nethander, Maria, Vandenput, Liesbeth, Brommage, Robert, Liu, Jeff, Evans, David M. and Lorentzon, Mattias (2012). A Genome-Wide Association Meta-Analysis and a Mouse Gene Deletion Model Identify Wnt16 as a Potential Regulator of Cortical Bone Thickness. Osteoporosis and Bone Conference, Manchester England, Jul 01-04, 2012. LONDON: SPRINGER LONDON LTD.
A genomewide association study of anterior uveiti
Claushuis, Dorith, Cortes, Adrian, Bradbury, Linda A., Martin, Tammy M., Rosenbaum, James T., Reveille, John D., Wordsworth, Paul, Pointon, Jennifer, Evans, David, Leo, Paul, Mukhopadhyay, Pamela and Brown, Matthew A. (2012). A genomewide association study of anterior uveiti. Annual Scientific Meeting of the American-College-of-Rheumatology (ACR) and Association-of-Rheumatology-Health-Professionals (ARHP), Washington, DC, United States, 9-14 November 2012. Hoboken, NJ, United States: John Wiley & Sons. doi: 10.1002/art.37735
A genomewide association study of anterior uveitis
Claushuis, T., Cortes, A., Bradbury, L. A., Martin, T. M., Rosenbaum, J. T., Reveille, J. D., Pointon, J. J., Wordsworth, B. P., Evans, D. M., Leo, P., Mukhopadhyay, P. and Brown, M. A. (2012). A genomewide association study of anterior uveitis. 8th International Congress on Spondyloarthritis, Granada, Spain, 9-13 May 2012. Ospedaletto, Italy: Pacini Editore SpA.
Robinson, Philip, Cortes, Adrian, Leo, Paul, Evans, David and Brown, Matthew A. (2012). Ankylosing spondylitis is associated with single nucleotide polymorphisms in loci implicating four aminopeptidases. Annual Scientific Meeting of the American-College-of-Rheumatology (ACR) and Association-of-Rheumatology-Health-Professionals (ARHP), Washington, DC, United States, 9-14 November 2012. Hoboken, NJ, United States: John Wiley & Sons. doi: 10.1002/art.37735
Ankylosing spondylitis is associated with snps in loci implicating four aminopeptidases
Robinson, P. C., Cortes, A., Leo, P., Evans, D. M. and Brown, M. A. (2012). Ankylosing spondylitis is associated with snps in loci implicating four aminopeptidases. 8th International Congress on Spondyloarthritis, Granada, Spain, 9-13 May 2012. Ospedaletto, Italy: Pacini Editore SpA.
Dense genotyping of candidate genes identifies 16 new susceptibility loci in ankylosing spondylitis
Cortes, A., Robinson, P. C., Hadler, J., Leo, P., Evans, D. M. and Brown, M. A. (2012). Dense genotyping of candidate genes identifies 16 new susceptibility loci in ankylosing spondylitis. Eighth International Congress on Spondyloarthropathies, Gent, Belgium, 4-6 October 2012. Ospedaletto, PI, Italy: Pacini Editore.
Genome-wide association study of primary tooth eruption
Fatemifar, G., Hoggart, C., Prokopenko, I., Horikoshi, M., Tobias, J., Jarvelin, M. -R. and Evans, D. M. (2012). Genome-wide association study of primary tooth eruption. 39th Annual Congress of the European-Calcified-Tissue-Society (ECTS), Stockholm Sweden, May 19-23, 2012. NEW YORK: ELSEVIER SCIENCE INC. doi: 10.1016/j.bone.2012.02.326
Kemp, John P., Medina-Gomez, Carolina, Estrada, Karol, Eriksson, Joel, Liu, Jeff, Reppe, Sjur, Evans, David M., Heppe, Denise, VandenPut, Liesbeth, Herrera, Lizbeth, Ring, Susan M., Kruithof, Claudia, Timpson, Nicholas J., Zillikens, M. Carola, Olstad, Ole K., Zheng, Hou-Feng, Richards, Brent, St Pourcain, Beate, Hofman, Albert, Jaddoe, Vincent W., Smith, George Davey, Lorentzon, Mattias, Gautvik, Kaare M., Uitterlinden, Andre G., Brommage, Robert, Ohlsson, Claes, Tobias, Jonathan H. and Rivadeneira, Fernando (2012). Meta-Analysis of Genome-Wide Scans for Total Body Bmd Reveals An Interaction with Weight Bearing At the Wnt16 Locus. Osteoporosis and Bone Conference, Manchester England, Jul 01-04, 2012. LONDON: SPRINGER LONDON LTD.
Medina-Gomez, C., Kemp, J. P., Estrada, K., Eriksson, J., Liu, J., Reppe, S., Evans, D. M., Heppe, D., van den Put, L., Herrera, L., Ring, S. M., Kruithof, C., Timpson, N. J., Zillikens, M. C., Olstad, O. K., St Pourcain, B., Hofman, A., Jaddoe, V. W., Smith, G. D., Lorentzon, M., Gautvik, K. M., Uitterlinden, A. G., Brommage, R., Ohlsson, C., Tobias, J. H. and Rivadeneira, F. (2012). Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity, pleiotropy and age-specific effects at the WNT16 locus. 39th Annual Congress of the European-Calcified-Tissue-Society (ECTS), Stockholm Sweden, May 19-23, 2012. NEW YORK: ELSEVIER SCIENCE INC. doi: 10.1016/j.bone.2012.02.085
Is There a Higher Genetic Load of Susceptibility Loci in Familial Ankylosing Spondylitis?
Joshi, Reeti K., Reveille, John D., Brown, Matthew A., Weisman, Michael H., Ward, Michael M., Gensler, Lianne S., Wordsworth, B. Paul, Evans, David M. and Assassi, Shervin (2011). Is There a Higher Genetic Load of Susceptibility Loci in Familial Ankylosing Spondylitis?. 75th Annual Scientific Meeting of the American-College-of-Rheumatology/46th Annual Scientific Meeting of the Association-of-Rheumatology-Health-Professionals, Chicago Il, Nov 04-09, 2011. MALDEN: WILEY-BLACKWELL.
Estrada, K, Evangelou, E, Hsu, YH, Styrkarsdottir, U, Liu, CT, Moayyeri, A, Kaptoge, S, Duncan, E, Amin, N, Kiel, D, Karasik, D, Albagha, OM, Brown, M, Spector, TD, Zillikens, MC, Ohlsson, C, Thorleifsson, G, Reeve, J, Vandenput, L, Pettersson, U, O'Neill, T, Riancho, JA, Ijunggren, O, Rousseau, F, Leslie, WD, Obermayer-Pietsch, B, Alonso, N, Langdahl, B, Nogues, X ... GENOMOS Consortia (2011). Association analyses of 47,500 individuals identifies six fracture loci and 82 BMD loci clustering in biological pathways that regulate osteoblast and osteoclast activity. 3rd Joint Meeting of the European-Calcified-Tissue-Society/International-Bone-and-Mineral-Society, Athens Greece, May 07-11, 2011. NEW YORK: ELSEVIER SCIENCE INC. doi: 10.1016/j.bone.2011.03.070
The genetic basis of spondyloarthritis: SPARTAN/IGAS 2009
Evans, David M., Reveille, John D., Brown, Matthew A., Chandran, Vinod, Gladman, Dafna D., Martin, Tammy M., McGovern, Dermot, Wordsworth, Paul and Inman, Robert D. (2010). The genetic basis of spondyloarthritis: SPARTAN/IGAS 2009. Toronto, ON, Canada: Journal of Rheumatology Publishing. doi: 10.3899/jrheum.100892
Diagnostic capacity of genetic tests in Ankylosing spondylitis can exceed MRI scanning
Evans, David, Reveille, John D., Weisman, Michael H., Stone, Millicent A., Ward, Michael M., Savage, Laurie, Zhou, Xiaodong, Wordsworth, B. Paul and Brown, Matthew A. (2008). Diagnostic capacity of genetic tests in Ankylosing spondylitis can exceed MRI scanning. 72nd Annual Scientific Meeting of the American-College-of-Rheumatology/43rd Annual Scientific Meeting of the Association-of-Rheumatology-Health-Professionals, San Francisco Ca, Oct 24-29, 2008. HOBOKEN: WILEY-LISS.
Duncan, E. L., Rivadeneira, F., Sims, A., Dowling, A., Doan, T., Arp, P. P., Jhamai, M., Moorhouse, M., Evans, D., Eisman, J., Jones, G., Nicholson, G., Prince, R., Seeman, E., Wass, J. A. H., Hofman, A., Pols, H. A., Brown, M. A. and Uitterlinden, A. G. (2008). Genome-wide association study identifies klotho and other novel loci as contributors to BMD variation in postmenopausal women. 35th European Symposium on Calcified Tissues, Barcelona, Spain, 24-28 May 2008. New York, United States: Springer.
Phased genome-wide association study identifies new gene affecting bone mineral density
Duncan, E. L., Addison, K., Brugmans, M., Irwin, D., Evans, D., Eisman, J., Jones, G., Nicholson, G., Prince, R., Seeman, E., Uitterlinden, A., Wark, J., Ralston, S. and Brown, M. A. (2008). Phased genome-wide association study identifies new gene affecting bone mineral density. American Society for Bone and Mineral Research (ASBMR) 30th Annual Meeting, Montreal,Canada, 12 - 16 September 2008. Malden, MA, United States: Wiley-Blackwell. doi: 10.1002/jbmr.5650231306
A Phase 1 Genomewide Association Study in Osteoporosis
Sims, A. M., Duncan, E. L., Dowling, A., Doan, T., Evans, D., Eisman, J., Jones, G., Nicholson, G., Prince, R., Seeman, E., Wass, J. and Brown, M. A. (2007). A Phase 1 Genomewide Association Study in Osteoporosis. GeneMappers 2007 Conference, Brisbane, Queensland, Australia, 29-31 August 2007.
A phase 1 Genome-wide association study in Ostoeporosis
Sims, A. M., Duncan, E. L., Dowling, A., Doan, T., Evans, D., Eisman, J., Jones, G., Nicholson, G., Prince, R., Seeman, E., Wass, J. and Brown, M. A. (2007). A phase 1 Genome-wide association study in Ostoeporosis. 17th Annual Meeting of the Australian & New Zealand Bone & Mineral Society, Queenstown, New Zealand,, 9-12 September, 2007.
Il-23r is a major determinant of ankylosing spondylitis risk - The tasc study
Reveille, J. D., Zhou, X., Bradbury, L. A., Cardon, L. R., Davis, J. C., Deloukas, P., Evans, D. M., Keniry, A., McGinnis, R., Pointon, J., Ward, M. M., Weisman, M. H., Wordsworth, P. and Brown, M. A. (2007). Il-23r is a major determinant of ankylosing spondylitis risk - The tasc study. Annual European Congress of Rheumatology (EULAR 2007), Barcelona Spain, Jun 13-16, 2007. LONDON: B M J PUBLISHING GROUP.
Prospects and pitfalls in whole genome association studies
Lawrence R.W., Evans D.M. and Cardon L.R. (2005). Prospects and pitfalls in whole genome association studies. Meeting on Genetic Variation and Human Health, London England, Jan, 2005. LONDON: ROYAL SOCIETY. doi: 10.1098/rstb.2005.1689
Quantitative trait loci underlying variation in blood cell concentrations
Evans, D. M., Zhu, G., Frazer, I. H. and Martin, N. G. (2001). Quantitative trait loci underlying variation in blood cell concentrations. It Runs in the Family: Twins and Families in Biome, Melbourne, Australia, 6-7 April, 2001. Cambridge, MA: Cell Press.
(2023–2027) NHMRC Investigator Grants
(2020–2023) NHMRC IDEAS Grants
(2019–2022) NHMRC Project Grant
(2018–2023) University of Bristol
(2018–2022) NHMRC Research Fellowship
Enhancing host defence mechanisms in severe bacterial infections
(2018–2020) NHMRC Project Grant
(2017–2021) NHMRC Project Grant
(2017–2020) NHMRC Project Grant
Establishing a gnotobiotic germ-free mouse facility
(2016) UQ Major Equipment and Infrastructure
Gene expression profiling in critically ill patients with septic shock: The ADRENAL-GEPS Study
(2015–2018) NHMRC Project Grant
(2015–2018) NHMRC Project Grant
Finding novel genetic associations in Ankylosing Spondylitis
(2015–2017) University of Oxford
A biomarker for sepsis to thwart antibiotic overuse in the intensive care unit
(2015–2016) Royal Brisbane and Women's Hospital
(2015) UWA-UQ Bilateral Research Collaboration Award
(2014–2016) Centre for Eye Research Australia
Calibration of single channel and liquid handling robots
(2014) UQ Major Equipment and Infrastructure
Multiplex High Throughput Bio-plex Protein Assay Platform
(2014) UQ Major Equipment and Infrastructure
(2012–2018) Research Donation Generic
Investigating the association between maternal and fetal HLA-KIR genotypes and offspring birth weight
Doctor Philosophy — Principal Advisor
Multi-omic Approaches to Understanding Septic Shock
Doctor Philosophy — Principal Advisor
Other advisors:
Developing and Applying Statistical Genetics Methods to Elucidate the Developmental Origins of Health and Disease
Doctor Philosophy — Principal Advisor
Other advisors:
Using Genetics to Investigate Maternal Pregnancy Exposures and the Fetal Origins of Mental Health Outcomes
Doctor Philosophy — Principal Advisor
Other advisors:
Using multi-omics approaches to characterise determinants of early growth trajectories and their consequences on later life health
Doctor Philosophy — Associate Advisor
Other advisors:
(2023) Doctor Philosophy — Principal Advisor
Other advisors:
(2019) Doctor Philosophy — Principal Advisor
Other advisors:
Genetics of ankylosing spondylitis
(2014) Doctor Philosophy — Associate Advisor
Note for students: The possible research projects listed on this page may not be comprehensive or up to date. Always feel free to contact the staff for more information, and also with your own research ideas.
Investigating the genetic and environmental relationship between left-handedness, mortality, disease and other life outcomes
Handedness refers to the preferential use of one hand over the other. Conversely, ambidexterity refers to the ability to perform the same action equally well with both hands. Hand preference is first observed during gestation as embryos begin to exhibit single arm movements. Across the life span, the consistent use of one hand leads to alterations in the macromorphology and micromorphology of bone, which results in enduring asymmetries in bone form and density. At the neurological level, handedness is associated with the lateralization of language (the side of the brain involved in language) and other cognitive effects. The prevalence of left-handedness in modern western cultures is approximately 9% and is greater in males than females. While handedness is conceptually simple, its aetiology and whether it is related to brain and visceral (internal organ) asymmetry is unclear.
Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we recently conducted the world’s largest genetic study of handedness in over 1.7 million individuals (Cuellar-Partida et al 2020). We found 41 genetic loci associated with left-handedness and 7 associated with ambidexterity (P < 5 × 10−8). We would now like to take this work forward and use this resource to investigate the relationship between handedness and a variety of life outcomes including mortality and common complex diseases. The successful candidate will gain experience across a wide range of advanced statistical genetics methodologies including Mendelian randomization (a way of using genetic variants to investigate putatively causal relationships), genome-wide association analysis (GWAS), genetic restricted maximum likelihood (G-REML) analysis of genome-wide data which can be used to partition variation in phenotypes into genetic and environmental sources of variation, and instrumental variables analysis (using natural “experiments” to obtain information on causality from observational data).
Cuellar-Partida et al. (2020). Genome-wide association study identifies 48 common genetic variants associated with handedness. Nat Hum Behav. doi: 10.1038/s41562-020-00956-y.