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2019 Journal Article An atlas of genetic influences on osteoporosis in humans and miceMorris, 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 |
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2019 Journal Article Low-frequency variation in TP53 has large effects on head circumference and intracranial volumeHaworth, 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 |
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2019 Conference Publication Identification and Validation of Targets for Osteoporosis: Evidence from Whole exome Sequencing in 42,263 individuals, CRISPR-Cas9 and murine modelsLaurent, 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 |
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2019 Journal Article Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorderDemontis, 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 |
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2018 Journal Article Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disordersLigthart, 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 |
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2018 Journal Article Genome-wide association study of extreme high bone mass: contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genesGregson, 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 |
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2018 Journal Article Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive errorTedja, 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 |
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2018 Journal Article Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in uteroWarrington, 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 |
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2018 Journal Article Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific EffectsMedina-Gomez, Carolina, Kemp, John P., Trajanoska, Katerina, Luan, Jian'an, Chesi, Alessandra, Ahluwalia, Tarunveer S., Mook-Kanamori, Dennis O., Ham, Annelies, Hartwig, Fernando P., Evans, Daniel S., Joro, Raimo, Nedeljkovic, Ivana, Zheng, Hou-Feng, Zhu, Kun, Atalay, Mustafa, Liu, Ching-Ti, Nethander, Maria, Broer, Linda, Porleifsson, Gudmar, Mullin, Benjamin H., Handelman, Samuel K., Nalls, Mike A., Jessen, Leon E, Heppe, Denise H. M., Richards, J. Brent, Wang, Carol, Chawes, Bo, Schraut, Katharina E, Amin, Najaf ... Rivadeneira, Fernando (2018). Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. American journal of human genetics, 102 (1), 88-102. doi: 10.1016/j.ajhg.2017.12.005 |
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2018 Conference Publication An Atlas of Human and Murine Genetic Influences on OsteoporosisMorris, John, Kemp, John, Youlten, Scott, Logan, John, Chai, Ryan, Vulpescu, Nicholas, Forgetta, Vincenzo, Kleinman, Aaron, Mohanty, Sindhu, Sergio, Marcelo, Medina-Gomez, Carolina, Trajanoska, Katerina, Quinn, Julian, Ghirardello, Elena, Butterfield, Natalie, Curry, Katharine, Leitch, Victoria, Sparkes, Penny, Laurent, Laetitia, Adoum, Anne-Tounsia, Mannan, Naila, Komla-Ebri, Davide, Pollard, Andrea, Dewhurst, Hannah, Kaptoge, Stephen, Baldock, Paul, Cooper, Cyrus, Reeve, Jonathan, Ntzani, Evangelia ... Richards, Brent (2018). An Atlas of Human and Murine Genetic Influences on Osteoporosis. Annual Meeting of the American Society for Bone and Mineral Research, Montreal, Canada, 28 September - 1 October, 2018. Hoboken, NJ United States: Wiley-Blackwell Publishing. doi: 10.1002/jbmr.3621 |
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2018 Conference Publication Genomic Prediction of Osteoporosis Using 426,000 Individuals from UK BiobankForgetta, Vincenzo, Keller-Baruch, Julyan, Forest, Marie, Durand, Audrey, Bhatnagar, Sahir, Kemp, John, Morris, John, Kanis, John, Kiel, Douglas, Mccloskey, Eugene, Johansson, Helena, Harvey, Nicholas, Evans, Dave, Pineau, Joelle, Leslie, William, Greenwood, Celia M. T. and Richards, J. Brent (2018). Genomic Prediction of Osteoporosis Using 426,000 Individuals from UK Biobank. Annual Meeting of the American Society for Bone and Mineral Research, Montreal Canada, 28 September - 1 October 2018. Hoboken, NJ United States: Wiley. |
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2017 Journal Article Rare variant analysis of human and rodent obesity genes in individuals with severe childhood obesityHendricks, Audrey E., Bochukova, Elena G., Marenne, Gaelle, Keogh, Julia M., Atanassova, Neli, Bounds, Rebecca, Wheeler, Eleanor, Mistry, Vanisha, Henning, Elana, Koerner, Antje, Muddyman, Dawn, McCarthy, Shane, Hinney, Anke, Hebebrand, Johannes, Scott, Robert A., Langenberg, Claudia, Wareham, Nick J., Surendran, Praveen, Howson, Joanna M., Butterworth, Adam S., Danesh, John, Nordestgaard, Borge G., Nielsen, Sune F., Afzal, Shoaib, Papadia, Sofia, Ashford, Sofie, Garg, Sumedha, Millhauser, Glenn L., Palomino, Rafael I. ... Yang, Jian (2017). Rare variant analysis of human and rodent obesity genes in individuals with severe childhood obesity. Scientific Reports, 7 (1) 4394, 4394.1-4394.14. doi: 10.1038/s41598-017-03054-8 |
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2017 Journal Article Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locusHackinger, 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 |
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2017 Journal Article Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosisKemp, John P., Morris, John A., Medina-Gomez, Carolina, Forgetta, Vincenzo, Warrington, Nicole M., Youlten, Scott E., Zheng, Jie, Gregson, Celia L., Grundberg, Elin, Trajanoska, Katerina, Logan, John G., Pollard, Andrea S., Sparkes, Penny C., Ghirardello, Elena J., Allen, Rebecca, Leitch, Victoria D., Butterfield, Natalie C., Komla-Ebri, Davide, Adoum, Anne-Tounsia, Curry, Katharine F., White, Jacqueline K., Kussy, Fiona, Greenlaw, Keelin M., Xu, Changjiang, Harvey, Nicholas C., Cooper, Cyrus, Adams, David J., Greenwood, Celia M. T., Maurano, Matthew T. ... Evans, David M. (2017). Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. Nature Genetics, 49 (10), 1468-1475. doi: 10.1038/ng.3949 |
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2017 Journal Article Variants in the fetal genome near FLT1 are associated with risk of preeclampsiaMcGinnis, Ralph, Steinthorsdottir, Valgerdur, Williams, Nicholas O., Thorleifsson, Gudmar, Shooter, Scott, Hjartardottir, Sigrun, Bumpstead, Suzannah, Stefansdottir, Lilja, Hildyard, Lucy, Sigurdsson, Jon K., Kemp, John P., Silva, Gabriela B., Thomsen, Liv Cecilie V., Jaaskelainen, Tiina, Kajantie-, Eero, Chappell, Sally, Kalsheker, Noor, Moffett, Ashley, Hiby, Susan, Lee, Wai Kwong, Padmanabhan, Sandosh, Simpson, Nigel A. B., Dolby, Vivien A., Staines-Urias, Eleonora, Engel, Stephanie M., Haugan, Anita, Trogstad, Lill, Svyatova, Gulnara, Zakhidova, Nodira ... Morgan, Linda (2017). Variants in the fetal genome near FLT1 are associated with risk of preeclampsia. Nature Genetics, 49 (8), 1255-1260. doi: 10.1038/ng.3895 |
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2017 Journal Article Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locusMedina-Gomez, Carolina, Kemp, John P., Dimou, Niki L., Kreiner, Eskil, Chesi, Alessandra, Zemel, Babette S., Bonnelykke, Klaus, Boer, Cindy G., Ahluwalia, Tarunveer S., Bisgaard, Hans, Evangelou, Evangelos, Heppe, Denise H. M., Bonewald, Lynda F., Gorski, Jeffrey P., Ghanbari, Mohsen, Demissie, Serkalem, Duque, Gustavo, Maurano, Matthew T., Kiel, Douglas P., Hsu, Yi-Hsiang, Van Der Eerden, Bram C. J., Ackert-Bicknell, Cheryl, Reppe, Sjur, Gautvik, Kaare M., Raastad, Truls, Karasik, David, Van De Peppel, Jeroen, Jaddoe, Vincent W. V., Uitterlinden, André G. ... Rivadeneira, Fernando (2017). Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. Nature Communications, 8 (1) 121, 121. doi: 10.1038/s41467-017-00108-3 |
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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 |
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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 |
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2017 Conference Publication 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 phenotypesGregson, 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. |
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2017 Conference Publication Cathepsins B and S Are Novel Biomarkers for Bone Mineral Density: A Mendelian Randomization StudyMorris, 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. |
