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2020 Journal Article Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian womenSteinthorsdottir, Valgerdur, McGinnis, Ralph, Williams, Nicholas O., Stefansdottir, Lilja, Thorleifsson, Gudmar, Shooter, Scott, Fadista, João, Sigurdsson, Jon K., Auro, Kirsi M., Berezina, Galina, Borges, Maria-Carolina, Bumpstead, Suzannah, Bybjerg-Grauholm, Jonas, Colgiu, Irina, Dolby, Vivien A., Dudbridge, Frank, Engel, Stephanie M., Franklin, Christopher S., Frigge, Michael L., Frisbaek, Yr, Geirsson, Reynir T., Geller, Frank, Gretarsdottir, Solveig, Gudbjartsson, Daniel F., Harmon, Quaker, Hougaard, David Michael, Hegay, Tatyana, Helgadottir, Anna, Hjartardottir, Sigrun ... Morgan, Linda (2020). Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women. Nature Communications, 11 (1) 5976, 5976. doi: 10.1038/s41467-020-19733-6 |
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2020 Journal Article Genome-wide association study identifies 48 common genetic variants associated with handednessCuellar-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 |
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2020 Journal Article The musculoskeletal knowledge portal: making omics data useful to the broader scientific communityKiel, Douglas P., Kemp, John P., Rivadeneira, Fernando, Westendorf, Jennifer J., Karasik, David, Duncan, Emma, Imai, Yuuki, Müller, Ralph, Flannick, Jason, Bonewald, Lynda and Burtt, Noel (2020). The musculoskeletal knowledge portal: making omics data useful to the broader scientific community. Journal of Bone and Mineral Research, 35 (9) jbmr.4147, 1626-1633. doi: 10.1002/jbmr.4147 |
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2020 Journal Article Development of a polygenic risk score to improve screening for fracture risk: a genetic risk prediction studyForgetta, 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 |
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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 Other Outputs Machine Learning to Predict Osteoporotic Fracture Risk from GenotypesForgetta, Vincenzo, Keller-Baruch, Julyan, Forest, Marie, Durand, Audrey, Bhatnagar, Sahir, Kemp, John, Morris, John A, Kanis, John A, Kiel, Douglas P., McCloskey, Eugene V, Rivadeneira, Fernando, Johannson, Helena, Harvey, Nicholas, Cooper, Cyrus, Evans, David M, Pineau, Joelle, Leslie, William D, Greenwood, Celia MT and Richards, J Brent (2018). Machine Learning to Predict Osteoporotic Fracture Risk from Genotypes. doi: 10.1101/413716 |
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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 |
