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2020 Journal Article RSPO3 impacts body fat distribution and regulates adipose cell biology in vitroLoh, 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 |
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2020 Journal Article The effect of plasma lipids and lipid-lowering interventions on bone mineral density: a Mendelian randomization studyZheng, 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 |
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2019 Journal Article Use of Mendelian randomization to examine causal inference in osteoporosisZheng, 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 |
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2019 Journal Article A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signaling pathway as a potential anabolic target for osteoporosisGregson, Celia L., Bergen, Dylan J. M., Leo, Paul, Sessions, Richard B., Wheeler, Lawrie, Hartley, April, Youlten, Scott, Croucher, Peter I., McInerney-Leo, Aideen M., Fraser, William, Tang, Jonathan C.Y., Anderson, Lisa, Marshall, Mhairi, Sergot, Leon, Paternoster, Lavinia, Davey Smith, George, Brown, Matthew A., Hammond, Chrissy, Kemp, John P., Tobias, Jon H. and Duncan, Emma L. (2019). A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signaling pathway as a potential anabolic target for osteoporosis. Journal of Bone and Mineral Research, 35 (1) jbmr.3875, 92-105. doi: 10.1002/jbmr.3875 |
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2019 Journal Article Author Correction: 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). 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 |
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2019 Journal Article Meta-analysis of genomewide association studies reveals genetic variants for hip bone geometryHsu, Yi-Hsiang, Estrada, Karol, Evangelou, Evangelos, Ackert-Bicknell, Cheryl, Akesson, Kristina, Beck, Thomas, Brown, Suzanne J, Capellini, Terence, Carbone, Laura, Cauley, Jane, Cheung, Ching-Lung, Cummings, Steven R, Czerwinski, Stefan, Demissie, Serkalem, Econs, Michael, Evans, Daniel, Farber, Charles, Gautvik, Kaare, Harris, Tamara, Kammerer, Candace, Kemp, John, Koller, Daniel L, Kung, Annie, Lawlor, Debbie, Lee, Miryoung, Lorentzon, Mattias, McGuigan, Fiona, Medina-Gomez, Carolina, Mitchell, Braxton ... Karasik, David (2019). Meta-analysis of genomewide association studies reveals genetic variants for hip bone geometry. Journal of Bone and Mineral Research, 34 (7) e3698, e3698-1296. doi: 10.1002/jbmr.3698 |
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2019 Journal Article A metabolic screen in adolescents reveals an association between circulating citrate and cortical bone mineral densityKemp, 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, e3697-1313. doi: 10.1002/jbmr.3697 |
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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 |
