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2020

Journal Article

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

RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro

2020

Journal Article

The effect of plasma lipids and lipid-lowering interventions on bone mineral density: a Mendelian randomization study

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

The effect of plasma lipids and lipid-lowering interventions on bone mineral density: a Mendelian randomization study

2019

Journal Article

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

Use of Mendelian randomization to examine causal inference in osteoporosis

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 osteoporosis

Gregson, 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

A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signaling pathway as a potential anabolic target for osteoporosis

2019

Journal Article

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

Author Correction: an atlas of genetic influences on osteoporosis in humans and mice

2019

Journal Article

Meta-analysis of genomewide association studies reveals genetic variants for hip bone geometry

Hsu, 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

Meta-analysis of genomewide association studies reveals genetic variants for hip bone geometry

2019

Journal Article

A metabolic screen in adolescents reveals an association between circulating citrate and cortical bone mineral density

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, e3697-1313. doi: 10.1002/jbmr.3697

A metabolic screen in adolescents reveals an association between circulating citrate and cortical bone mineral density

2019

Journal Article

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

An atlas of genetic influences on osteoporosis in humans and mice

2019

Journal Article

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

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

2019

Journal Article

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

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

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

2018

Journal Article

Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders

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

Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders

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 genes

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

Genome-wide association study of extreme high bone mass: contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes

2018

Journal Article

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

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

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

2018

Journal Article

Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero

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

Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero

2018

Journal Article

Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects

Medina-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

Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects

2017

Journal Article

Rare variant analysis of human and rodent obesity genes in individuals with severe childhood obesity

Hendricks, 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

Rare variant analysis of human and rodent obesity genes in individuals with severe childhood obesity

2017

Journal Article

Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus

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

Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus

2017

Journal Article

Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis

Kemp, 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

Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis

2017

Journal Article

Variants in the fetal genome near FLT1 are associated with risk of preeclampsia

McGinnis, 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

Variants in the fetal genome near FLT1 are associated with risk of preeclampsia

2017

Journal Article

Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus

Medina-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

Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus