2017 Journal Article Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traitsTachmazidou, Ioanna, Suveges, Daniel, Min, Josine L., Ritchie, Graham R. S., Steinberg, Julia, Walter, Klaudia, Iotchkova, Valentina, Schwartzentruber, Jeremy, Huang, Jie, Memari, Yasin, McCarthy, Shane, Crawford, Andrew A., Bombieri, Cristina, Cocca, Massimiliano, Farmaki, Aliki-Eleni, Gaunt, Tom R., Jousilahti, Pekka, Kooijman, Marjolein N., Lehne, Benjamin, Malerba, Giovanni, Mannisto, Satu, Matchan, Angela, Medina-Gomez, Carolina, Metrustry, Sarah J., Nag, Abhishek, Ntalla, Ioanna, Paternoster, Lavinia, Rayner, Nigel W., Sala, Cinzia ... Zeggini, Eleftheria (2017). Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits. American Journal of Human Genetics, 100 (6), 865-884. doi: 10.1016/j.ajhg.2017.04.014 |
2017 Journal Article LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysisZheng, Jie, Erzurumluoglu, A. Mesut, Elsworth, Benjamin L., Kemp, John P., Howe, Laurence, Haycock, Philip C., Hemani, Gibran, Tansey, Katherine, Laurin, Charles, St Pourcain, Beate, Warrington, Nicole M., Finucane, Hilary K., Price, Alkes L., Bulik-Sullivan, Brendan K., Anttila, Verneri, Paternoster, Lavinia, Gaunt, Tom R., Evans, David M. and Neale, Benjamin M. (2017). LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. Bioinformatics, 33 (2), 272-279. doi: 10.1093/bioinformatics/btw613 |
2016 Journal Article Why internal weights should be avoided (not only) in MR-Egger regression responseKemp, 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 |
2016 Journal Article Using Mendelian randomization to investigate a possible causal relationship between adiposity and increased bone mineral density at different skeletal sites in childrenKemp, 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 |
2016 Journal Article A genome-wide association meta-analysis of attention-deficit/hyperactivity disorder symptoms in population-based pediatric cohortsMiddeldorp, 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 |
2016 Journal Article Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescencePourcain, Beate St, 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 (2016). Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence. Human Genetics, 135 (8), 965-965. doi: 10.1007/s00439-016-1695-1 |
2016 Journal Article The case for genome-wide association studies of bone acquisition in paediatric and adolescent populationsKemp, John P, Medina-Gomez, Carolina, Tobias, Jonathan H, Rivadeneira, Fernando and Evans, David M (2016). The case for genome-wide association studies of bone acquisition in paediatric and adolescent populations. BoneKEy reports, 5, 796. doi: 10.1038/bonekey.2016.23 |
2016 Journal Article Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive errorFan, Qiao, Verhoeven, Virginie J. M., Wojciechowski, Robert, Barathi, Veluchamy A., Hysi, Pirro G., Guggenheim, Jeremy A., Hoehn, Rene, Vitart, Veronique, Khawaja, Anthony P., Yamashiro, Kenji, Hosseini, S. Mohsen, Lehtimaki, Terho, Lu, Yi, Haller, Toomas, Xie, Jing, Delcourt, Cecile, Pirastu, Mario, Wedenoja, Juho, Gharahkhani, Puya, Venturini, Cristina, Miyake, Masahiro, Hewitt, Alex W., Guo, Xiaobo, Mazur, Johanna, Huffman, Jenifer E., Williams, Katie M., Polasek, Ozren, Campbell, Harry, Rudan, Igor ... Makela, Kari Matti (2016). Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nature Communications, 7 (1) 11008, 11008-11008. doi: 10.1038/ncomms11008 |
2016 Journal Article Common genetic variants influence whorls in fingerprint patternsHo, Yvonne Y. W., Evans, David M., Montgomery, Grant W., Henders, Anjali K., Kemp, John P., Timpson, Nicholas J., Pourcain, Beate St., Heath, Andrew C., Madden, Pamela A. F., Loesch, Danuta Z., McNevin, Dennis, Daniel, Runa, Davey-Smith, George, Martin, Nicholas G. and Medland, Sarah E. (2016). Common genetic variants influence whorls in fingerprint patterns. Journal of Investigative Dermatology, 136 (4), 859-862. doi: 10.1016/j.jid.2015.10.062 |
2015 Journal Article Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputationArtigas, Maria Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikainen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John ... Zeggini, Eleftheria (2015). Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. Nature Communications, 6 (8658) 89658, 1-12. doi: 10.1038/ncomms9658 |
2015 Journal Article Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitisPaternoster, Lavinia, Standl, Marie, Waage, Johannes, Baurecht, Hansjoerg, Hotze, Melanie, Strachan, David P., Curtin, John A., Bonnelykke, Klaus, Tian, Chao, Takahashi, Atsushi, Esparza-Gordillo, Jorge, Alves, Alexessander Couto, Thyssen, Jacob P., den Dekker, Herman T., Ferreira, Manuel A., Altmaier, Elisabeth, Sleiman, Patrick M. A., Xiao, Feng Li, Gonzalez, Juan R., Marenholz, Ingo, Kalb, Birgit, Pino-Yanes, Maria, Xu, Cheng-Jian, Carstensen, Lisbeth, Groen-Blokhuis, Maria M., Venturini, Cristina, Pennell, Craig E., Barton, Sheila J., Levin, Albert M. ... Weidinger, Stephan (2015). Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. Nature Genetics, 47 (12), 1449-1456. doi: 10.1038/ng.3424 |
2015 Journal Article Incorporating known genetic variants does not improve the accuracy of psa testing to identify high risk prostate cancer on biopsyGilbert, Rebecca, Martin, Richard M., Evans, David M., Tilling, Kate, Smith, George Davey, Kemp, John P., Lane, J. Athene, Hamdy, Freddie C., Neal, David E., Donovan, Jenny L. and Metcalfe, Chris (2015). Incorporating known genetic variants does not improve the accuracy of psa testing to identify high risk prostate cancer on biopsy. PL o S One, 10 (10) e136735, 1-17. doi: 10.1371/journal.pone.0136735 |
2015 Journal Article The UK10K project identifies rare variants in health and diseaseThe 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 |
2015 Journal Article Whole-genome sequencing identifies EN1 as a determinant of bone density and fractureZheng, Hou-Feng, Forgetta, Vincenzo, Hsu, Yi-Hsiang, Estrada, Karol, Rosello-Diez, Alberto, Leo, Paul J., Dahia, Chitra L., Park-Min, Kyung Hyun, Tobias, Jonathan H., Kooperberg, Charles, Kleinman, Aaron, Styrkarsdottir, Unnur, Liu, Ching-Ti, Uggla, Charlotta, Evans, Daniel S., Nielson, Carrie M., Walter, Klaudia, Pettersson-Kymmer, Ulrika, McCarthy, Shane, Eriksson, Joel, Kwan, Tony, Jhamai, Mila, Trajanoska, Katerina, Memari, Yasin, Min, Josine, Huang, Jie, Danecek, Petr, Wilmot, Beth, Li, Rui ... UK10K Consortium (2015). Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature, 526 (7571), 112-117. doi: 10.1038/nature14878 |
2015 Journal Article The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortiumDavies, Neil M., Gaunt, Tom R., Lewis, Sarah J., Holly, Jeff, Donovan, Jenny L., Hamdy, Freddie C., Kemp, John P., Eeles, Rosalind, Easton, Doug, Kote-Jarai, Zsofia, Al Olama, Ali Amin, Benlloch, Sara, Muir, Kenneth, Giles, Graham G., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher A., Schleutker, Johanna, Nordestgaard, Børge G., Travis, Ruth C., Neal, David, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L., Blot, William J., Thibodeau, Stephen, Maier, Christiane, Kibel, Adam S., Cybulski, Cezary ... Martin, Richard M. (2015). The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium. Cancer Causes and Control, 26 (11), 1603-1616. doi: 10.1007/s10552-015-0654-9 |
2015 Journal Article Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panelHuang, Jie, Howie, Bryan, McCarthy, Shane, Memari, Yasin, Walter, Klaudia, Min, Josine L., Danecek, Petr, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hou-Feng, Gambaro, Giovanni, Richards, J. Brent, Durbin, Richard, Timpson, Nicholas J., Marchini, Jonathan, Soranzo, Nicole, UK10K Consortium, Evans, David M., Kemp, John P., Visscher, Peter M. and Yang, Jian (2015). Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature Communications, 6 (1) 8111, 8111.1-8111.9. doi: 10.1038/ncomms9111 |
2015 Journal Article Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortiumvan Den Berg, Stephanie M., de Moor, Marleen H.M., Verweij, Karin J.H., Krueger, Robert F., Luciano, Michelle, Arias Vasquez, Alejandro, Matteson, Lindsay K., Derringer, Jaime, Esko, Tonu, Amin, Najaf, Gordon, Scott D., Hansell, Narelle K., Hart, Amy B., Seppala, Ilkka, Huffman, Jennifer, Konte, Bettina, Lahti, Jari, Lee, Minyoung, Miller, Mike, Nutile, Teresa, Tanaka, Toshiko, Teumer, Alexander, Viktorin, Alexander, Wedenoja, Juho, Abdellaoui, Abdel, Abecasis, Goncalo R., Adkins, Daniel E., Agrawal, Arpana, Allik, Juri ... Boomsma, Dorret I. (2015). Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium. Behavior Genetics, 46 (2), 170-182. doi: 10.1007/s10519-015-9735-5 |
2015 Journal Article Meta-analysis of genome-wide association studies for neuroticism, and the polygenic association with major depressive disorderDe Moor, Marleen H.M, Van Den Berg, Stephanie M, Verweij, Karin J.H, Krueger, Robert F, Luciano, Michelle, Arias Vasquez, Alejandro, Matteson, Lindsay K, Derringer, Jaime, Esko, Tonu, Amin, Najaf, Gordon, Scott D, Hansell, Narelle K, Hart, Amy B, Seppala, Ilkka, Huffman, Jennifer E, Konte, Bettina, Lahti, Jari, Lee, Minyoung, Miller, Mike, Nutile, Teresa, Tanaka, Toshiko, Teumer, Alexander, Viktorin, Alexander, Wedenoja, Juho, Abecasis, Goncalo R, Adkins, Daniel E, Agrawal, Arpana, Allik, Juri, Appel, Katja ... Boomsma, Dorret I (2015). Meta-analysis of genome-wide association studies for neuroticism, and the polygenic association with major depressive disorder. JAMA Psychiatry, 72 (7), 642-650. doi: 10.1001/jamapsychiatry.2015.0554 |
2015 Journal Article A genome-wide approach to children's aggressive behavior: the EAGLE consortiumPappa, Irene, St Pourcain, Beate, Benke, Kelly, Cavadino, Alana, Hakulinen, Christian, Nivard, Michel G., Nolte, Ilja M., Tiesler, Carla M. T., Bakermans-Kranenburg, Marian J., Davies, Gareth E., Evans, David M., Geoffroy, Marie-Claude, Grallert, Harald, Groen-Blokhuis, Maria M., Hudziak, James J., Kemp, John P., Keltikangas-Järvinen, Liisa, McMahon, George, Mileva-Seitz, Viara R., Motazedi, Ehsan, Power, Christine, Raitakari, Olli T., Ring, Susan M., Rivadeneira, Fernando, Rodriguez, Alina, Scheet, Paul A., Seppälä, Ilkka, Snieder, Harold, Standl, Marie ... Tiemeier, Henning (2015). A genome-wide approach to children's aggressive behavior: the EAGLE consortium. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 171 (5), 1-11. doi: 10.1002/ajmg.b.32333 |
2015 Journal Article TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportSchmidts, Miriam, Hou, Yuqing, Cortes, Claudio R., Mans, Dorus A., Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteboer, Stef J. F., Taylor, S. Paige, Herridge, Warren, Johnson, Colin A., Scambler, Peter J., Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, King, Stephen M., Beales, Philip L., Al-Gazali, Lihadh, Wicking, Carol, Cormier-Daire, Valerie, Roepman, Ronald, Mitchison, Hannah M., Witman, George B., Al-Turki, Saeed, Anderson, Carl ... Zheng, Hou-Feng (2015). TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications, 6 (7074) 7074, 1-13. doi: 10.1038/ncomms8074 |