The University of Queensland

Femoral Neck Width Genetic Risk Score is A Novel Independent Risk Factor for Hip Fractures

Tobias, Jonathan H, Nethander, Maria, Faber, Benjamin G, Heppenstall, Sophie V, Ebsim, Raja, Cootes, Tim, Lindner, Claudia, Saunders, Fiona R, Gregory, Jenny S, Aspden, Richard M, Harvey, Nicholas C, Kemp, John P, Frysz, Monika and Ohlsson, Claes (2024). Femoral Neck Width Genetic Risk Score is A Novel Independent Risk Factor for Hip Fractures. Journal of Bone and Mineral Research. doi: 10.1093/jbmr/zjae002

The identification of distinct protective and susceptibility mechanisms for hip osteoarthritis: findings from a genome-wide association study meta-analysis of minimum joint space width and Mendelian randomisation cluster analyses

Faber, Benjamin G., Frysz, Monika, Boer, Cindy G., Evans, Daniel S., Ebsim, Raja, Flynn, Kaitlyn A., Lundberg, Mischa, Southam, Lorraine, Hartley, April, Saunders, Fiona R., Lindner, Claudia, Gregory, Jennifer S., Aspden, Richard M., Lane, Nancy E., Harvey, Nicholas C., Evans, David M., Zeggini, Eleftheria, Davey Smith, George, Cootes, Timothy, Van Meurs, Joyce, Kemp, John P. and Tobias, Jonathan H. (2023). The identification of distinct protective and susceptibility mechanisms for hip osteoarthritis: findings from a genome-wide association study meta-analysis of minimum joint space width and Mendelian randomisation cluster analyses. eBioMedicine, 95 104759, 104759. doi: 10.1016/j.ebiom.2023.104759

Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis

Medina-Gomez, Carolina, Mullin, Benjamin H., Chesi, Alessandra, Prijatelj, Vid, Kemp, John P., Shochat-Carvalho, Chen, Trajanoska, Katerina, Wang, Carol, Joro, Raimo, Evans, Tavia E., Schraut, Katharina E., Li-Gao, Ruifang, Ahluwalia, Tarunveer S., Zillikens, M. Carola, Zhu, Kun, Mook-Kanamori, Dennis O., Evans, Daniel S., Nethander, Maria, Knol, Maria J., Thorleifsson, Gudmar, Prokic, Ivana, Zemel, Babette, Broer, Linda, McGuigan, Fiona E., van Schoor, Natasja M., Reppe, Sjur, Pawlak, Mikolaj A., Ralston, Stuart H., van der Velde, Nathalie ... Rivadeneira, Fernando (2023). Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis. Communications Biology, 6 (1) 691, 1-12. doi: 10.1038/s42003-023-04869-0

A GWAS meta‐analysis of alpha angle suggests cam‐type morphology may be a specific feature of hip osteoarthritis in older adults

Faber, Benjamin G., Frysz, Monika, Hartley, April E., Ebsim, Raja, Boer, Cindy G., Saunders, Fiona R., Gregory, Jennifer S., Aspden, Richard M, Harvey, Nicholas C., Southam, Lorraine, Giles, William, Le Maitre, Christine L., Wilkinson, J. Mark, van Meurs, Joyce B. J., Zeggini, Eleftheria, Cootes, Timothy, Lindner, Claudia, Kemp, John P., Davey Smith, George and Tobias, Jonathan H. (2023). A GWAS meta‐analysis of alpha angle suggests cam‐type morphology may be a specific feature of hip osteoarthritis in older adults. Arthritis and Rheumatology, 75 (6), 900-909. doi: 10.1002/art.42451

Lowering of circulating sclerostin may increase risk of atherosclerosis and its risk factors: evidence from a genome‐wide association meta‐analysis followed by Mendelian randomization

Zheng, Jie, Wheeler, Eleanor, Pietzner, Maik, Andlauer, Till F.M., Yau, Michelle S., Hartley, April E., Brumpton, Ben Michael, Rasheed, Humaira, Kemp, John P, Frysz, Monika, Robinson, Jamie, Reppe, Sjur, Prijatelj, Vid, Gautvik, Kaare M., Falk, Louise, Maerz, Winfried, Gergei, Ingrid, Peyser, Patricia A, Kavousi, Maryam, de Vries, Paul S., Miller, Clint L., Bos, Maxime, van der Laan, Sander W., Malhotra, Rajeev, Herrmann, Markus, Scharnagl, Hubert, Kleber, Marcus, Dedoussis, George, Zeggini, Eleftheria ... Tobias, Jonathan H. (2023). Lowering of circulating sclerostin may increase risk of atherosclerosis and its risk factors: evidence from a genome‐wide association meta‐analysis followed by Mendelian randomization. Arthritis & Rheumatology, 75 (10), 1781-1792. doi: 10.1002/art.42538

Mendelian randomization analysis of factors related to ovulation and reproductive function and endometrial cancer risk

D’Urso, Shannon, Arumugam, Pooja, Weider, Therese, Hwang, Liang-Dar, Bond, Tom A., Kemp, John P., Warrington, Nicole M., Evans, David M., O’Mara, Tracy A. and Moen, Gunn-Helen (2022). Mendelian randomization analysis of factors related to ovulation and reproductive function and endometrial cancer risk. BMC Medicine, 20 (1) 419, 1-17. doi: 10.1186/s12916-022-02585-w

A GENOME WIDE ASSOCIATION STUDY OF DXA-DERIVED MINIMUM JOINT SPACE WIDTH OF THE HIP PROVIDES FURTHER INSIGHTS INTO ITS GENETIC ARCHITECTURE: FINDINGS FROM UK BIOBANK

Faber, B., Frysz, M., Ebsim, R., Lundberg, M., Southam, L., Hartley, A., Saunders, F.R., Lindner, C., Gregory, J.S., Aspden, R.M., Harvey, N.C., Zeggini, E., Smith, G. Davey, Cootes, T., Kemp, J.P. and Tobias, J.H. (2022). A GENOME WIDE ASSOCIATION STUDY OF DXA-DERIVED MINIMUM JOINT SPACE WIDTH OF THE HIP PROVIDES FURTHER INSIGHTS INTO ITS GENETIC ARCHITECTURE: FINDINGS FROM UK BIOBANK. Osteoarthritis and Cartilage, 30, S47-S48. doi: 10.1016/j.joca.2022.02.051

Regenerating zebrafish scales express a subset of evolutionary conserved genes involved in human skeletal disease

Bergen, Dylan J. M., Tong, Qiao, Shukla, Ankit, Newham, Elis, Zethof, Jan, Lundberg, Mischa, Ryan, Rebecca, Youlten, Scott E., Frysz, Monika, Croucher, Peter I., Flik, Gert, Richardson, Rebecca J., Kemp, John P., Hammond, Chrissy L. and Metz, Juriaan R. (2022). Regenerating zebrafish scales express a subset of evolutionary conserved genes involved in human skeletal disease. BMC Biology, 20 (1) 21, 21. doi: 10.1186/s12915-021-01209-8

Limb development genes underlie variation in human fingerprint patterns

Li, Jinxi, Glover, James D., Zhang, Haiguo, Peng, Meifang, Tan, Jingze, Mallick, Chandana Basu, Hou, Dan, Yang, Yajun, Wu, Sijie, Liu, Yu, Peng, Qianqian, Zheng, Shijie C., Crosse, Edie I., Medvinsky, Alexander, Anderson, Richard A., Brown, Helen, Yuan, Ziyu, Zhou, Shen, Xu, Yanqing, Kemp, John P., Ho, Yvonne Y.W., Loesch, Danuta Z., Wang, Lizhong, Li, Yingxiang, Tang, Senwei, Wu, Xiaoli, Walters, Robin G., Lin, Kuang, Meng, Ruogu ... Wang, Sijia (2022). Limb development genes underlie variation in human fingerprint patterns. Cell, 185 (1), 95-112.e18. doi: 10.1016/j.cell.2021.12.008

Investigating a potential causal relationship between maternal blood pressure during pregnancy and future offspring cardiometabolic health

Wang, Geng, Bhatta, Laxmi, Moen, Gunn-Helen, Hwang, Liang-Dar, Kemp, John P., Bond, Tom A., Åsvold, Bjørn Olav, Brumpton, Ben, Evans, David M. and Warrington, Nicole M. (2022). Investigating a potential causal relationship between maternal blood pressure during pregnancy and future offspring cardiometabolic health. Hypertension, 79 (1), 170-177. doi: 10.1161/hypertensionaha.121.17701

Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis

Kim, Peter Geon, Niroula, Abhishek, Shkolnik, Veronica, McConkey, Marie, Lin, Amy E., Słabicki, Mikołaj, Kemp, John P., Bick, Alexander, Gibson, Christopher J., Griffin, Gabriel, Sekar, Aswin, Brooks, Daniel J., Wong, Waihay J., Cohen, Drew N., Uddin, Md Mesbah, Shin, Wesley J., Pirruccello, James, Tsai, Jonathan M., Agrawal, Mridul, Kiel, Douglas P., Bouxsein, Mary L., Richards, J. Brent, Evans, David M., Wein, Marc N., Charles, Julia F., Jaiswal, Siddhartha, Natarajan, Pradeep and Ebert, Benjamin L. (2021). Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis. Journal of Experimental Medicine, 218 (12) e20211872. doi: 10.1084/jem.20211872

Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

Youlten, Scott E., Kemp, John P., Logan, John G., Ghirardello, Elena J., Sergio, Claudio M., Dack, Michael R. G., Guilfoyle, Siobhan E., Leitch, Victoria D., Butterfield, Natalie C., Komla-Ebri, Davide, Chai, Ryan C., Corr, Alexander P., Smith, James T., Mohanty, Sindhu T., Morris, John A., McDonald, Michelle M., Quinn, Julian M. W., McGlade, Amelia R., Bartonicek, Nenad, Jansson, Matt, Hatzikotoulas, Konstantinos, Irving, Melita D., Beleza-Meireles, Ana, Rivadeneira, Fernando, Duncan, Emma, Richards, J. Brent, Adams, David J., Lelliott, Christopher J., Brink, Robert ... Croucher, Peter I. (2021). Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease. Nature Communications, 12 (1) 2444, 1-21. doi: 10.1038/s41467-021-22517-1

Erratum: Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption (Cell (2021) 184(5) (1330–1347.e13), (S0092867421001525), (10.1016/j.cell.2021.02.002))

McDonald, Michelle M., Khoo, Weng Hua, Ng, Pei Ying, Xiao, Ya, Zamerli, Jad, Thatcher, Peter, Kyaw, Wunna, Pathmanandavel, Karrnan, Grootveld, Abigail K., Moran, Imogen, Butt, Danyal, Nguyen, Akira, Corr, Alexander, Warren, Sean, Biro, Maté, Butterfield, Natalie C., Guilfoyle, Siobhan E., Komla-Ebri, Davide, Dack, Michael R.G., Dewhurst, Hannah F., Logan, John G., Li, Yongxiao, Mohanty, Sindhu T., Byrne, Niall, Terry, Rachael L., Simic, Marija K., Chai, Ryan, Quinn, Julian M.W., Youlten, Scott E. ... Phan, Tri Giang (2021). Erratum: Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption (Cell (2021) 184(5) (1330–1347.e13), (S0092867421001525), (10.1016/j.cell.2021.02.002)). Cell, 184 (7), 1940-1940. doi: 10.1016/j.cell.2021.03.010

Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption

McDonald, Michelle M., Khoo, Weng Hua, Ng, Pei Ying, Xiao, Ya, Zamerli, Jad, Thatcher, Peter, Kyaw, Wunna, Pathmanandavel, Karrnan, Grootveld, Abigail K., Moran, Imogen, Butt, Danyal, Nguyen, Akira, Corr, Alexander, Warren, Sean, Biro, Maté, Butterfield, Natalie C., Guilfoyle, Siobhan E., Komla-Ebri, Davide, Dack, Michael R. G., Dewhurst, Hannah F., Logan, John G., Li, Yongxiao, Mohanty, Sindhu T., Byrne, Niall, Terry, Rachael L., Simic, Marija K., Chai, Ryan, Quinn, Julian M. W., Youlten, Scott E. ... Phan, Tri Giang (2021). Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption. Cell, 184 (5), 1330-1347. doi: 10.1016/j.cell.2021.02.002

Genome-wide association study of circulating interleukin 6 levels identifies novel loci

Ahluwalia, Tarunveer S., Prins, Bram P., Abdollahi, Mohammadreza, Armstrong, Nicola J., Aslibekyan, Stella, Bain, Lisa, Jefferis, Barbara, Baumert, Jens, Beekman, Marian, Ben-Shlomo, Yoav, Bis, Joshua C., Mitchell, Braxton D., de Geus, Eco, Delgado, Graciela E., Marek, Diana, Eriksson, Joel, Kajantie, Eero, Kanoni, Stavroula, Kemp, John P., Lu, Chen, Marioni, Riccardo E., McLachlan, Stela, Milaneschi, Yuri, Nolte, Ilja M., Petrelis, Alexandros M., Porcu, Eleonora, Sabater-Lleal, Maria, Naderi, Elnaz, Seppälä, Ilkka ... CHARGE Inflammation Working Group (2021). Genome-wide association study of circulating interleukin 6 levels identifies novel loci. Human Molecular Genetics, 30 (5), 393-409. doi: 10.1093/hmg/ddab023

Opportunities and challenges in functional genomics research in osteoporosis: report From a workshop held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020

Tobias, Jonathan H., Duncan, Emma L., Kague, Erika, Hammond, Chrissy L., Gregson, Celia L., Bassett, Duncan, Williams, Graham R., Min, Josine L., Gaunt, Tom R., Karasik, David, Ohlsson, Claes, Rivadeneira, Fernando, Edwards, James R., Hannan, Fadil M., Kemp, John P., Gilbert, Sophie J., Alonso, Nerea, Hassan, Neelam, Compston, Juliet E. and Ralston, Stuart H. (2021). Opportunities and challenges in functional genomics research in osteoporosis: report From a workshop held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020. Frontiers in Endocrinology, 11 630875, 630875. doi: 10.3389/fendo.2020.630875

Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

Steinthorsdottir, 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

Genome-wide association study identifies 48 common genetic variants associated with handedness

Cuellar-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

The musculoskeletal knowledge portal: making omics data useful to the broader scientific community

Kiel, 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

Development of a polygenic risk score to improve screening for fracture risk: a genetic risk prediction study

Forgetta, 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

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

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

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

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

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

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

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

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

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

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

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-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 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 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

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

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

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

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

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

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

Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits

Tachmazidou, 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

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

Zheng, 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

A genome-wide association meta-analysis of attention-deficit/hyperactivity disorder symptoms in population-based pediatric cohorts

Middeldorp, 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

Using Mendelian randomization to investigate a possible causal relationship between adiposity and increased bone mineral density at different skeletal sites in children

Kemp, 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

Why internal weights should be avoided (not only) in MR-Egger regression response

Kemp, 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

Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence

Pourcain, 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

The case for genome-wide association studies of bone acquisition in paediatric and adolescent populations

Kemp, 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

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

Fan, 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

Common genetic variants influence whorls in fingerprint patterns

Ho, 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

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Artigas, 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

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Paternoster, 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

Incorporating known genetic variants does not improve the accuracy of psa testing to identify high risk prostate cancer on biopsy

Gilbert, 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

The UK10K project identifies rare variants in health and disease

The 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

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

Zheng, 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

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

Davies, 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

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Huang, 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

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

van 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

Meta-analysis of genome-wide association studies for neuroticism, and the polygenic association with major depressive disorder

De 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

A genome-wide approach to children's aggressive behavior: the EAGLE consortium

Pappa, 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

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Schmidts, 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

Genetic variants in adult bone mineral density and fracture risk genes are associated with the rate of bone mineral density acquisition in adolescence

Warrington, Nicole M., Kemp, John P., Tilling, Kate, Tobias, Jonathan H. and Evans, David M. (2015). Genetic variants in adult bone mineral density and fracture risk genes are associated with the rate of bone mineral density acquisition in adolescence. Human Molecular Genetics, 24 (14) ddv143, 4158-4166. doi: 10.1093/hmg/ddv143

A genome-wide association study of body mass index across early life and childhood

Warrington, Nicole M., Howe, Laura D., Paternoster, Lavinia, Kaakinen, Marika, Herrala, Sauli, Huikari, Ville, Wu, Yan Yan, Kemp, John P., Timpson, Nicholas J., Pourcain, Beate St, Smith, George Davey, Tilling, Kate, Jarvelin, Marjo-Riitta, Pennell, Craig E., Evans, David M., Lawlor, Debbie A., Briollais, Laurent and Palmer, Lyle J. (2015). A genome-wide association study of body mass index across early life and childhood. International Journal of Epidemiology, 44 (2) dyv077, 700-712. doi: 10.1093/ije/dyv077

Genome-wide association study of blood lead shows multiple associations near ALAD

Warrington, Nicole M., Zhu, Gu, Dy, Veronica, Heath, Andrew C., Madden, Pamela A. F., Hemani, Gibran, Kemp, John P., Mcmahon, George, St Pourcain, Beate, Timpson, Nicholas J., Taylor, Caroline M., Golding, Jean, Lawlor, Debbie A., Steer, Colin, Montgomery, Grant W., Martin, Nicholas G., Smith, George Davey, Evans, David M. and Whitfield, John B. (2015). Genome-wide association study of blood lead shows multiple associations near ALAD. Human Molecular Genetics, 24 (13) ddv112, 3871-3879. doi: 10.1093/hmg/ddv112

Whole-genome sequence-based analysis of thyroid function

Taylor, Peter N., Porcu, Eleonora, Chew, Shelby, Campbell, Purdey J., Traglia, Michela, Brown, Suzanne J., Mullin, Benjamin H., Shihab, Hashem A., Min, Josine, Walter, Klaudia, Memari, Yasin, Huang, Jie, Barnes, Michael R., Beilby, John P., Charoen, Pimphen, Danecek, Petr, Dudbridge, Frank, Forgetta, Vincenzo, Greenwood, Celia, Grundberg, Elin, Johnson, Andrew D., Hui, Jennie, Lim, Ee M., McCarthy, Shane, Muddyman, Dawn, Panicker, Vijay, Perry, John R. B., Bell, Jordana T., Yuan, Wei ... Yang, Jian (2015). Whole-genome sequence-based analysis of thyroid function. Nature Communications, 6 (1) 5681, 5681.1-5681.10. doi: 10.1038/ncomms6681

A novel common variant in DCST2 is associated with length in early life and height in adulthood

van der Valk, Ralf J. P., Kreiner-Moller, Eskil, Kooijman, Marjolein N., Guxens, Monica, Stergiakouli, Evangelia, Saaf, Annika, Bradfield, Jonathan P., Geller, Frank, Hayes, M. Geoffrey, Cousminer, Diana L., Koerner, Antje, Thiering, Elisabeth, Curtin, John A., Myhre, Ronny, Huikari, Ville, Joro, Raimo, Kerkhof, Marjan, Warrington, Nicole M., Pitkanen, Niina, Ntalla, Ioanna, Horikoshi, Momoko, Veijola, Riitta, Freathy, Rachel M., Teo, Yik-Ying, Barton, Sheila J., Evans, David M., Kemp, John P., St Pourcain, Beate, Ring, Susan M. ... for the Early Growth Genetics (EGG) Consortium (2015). A novel common variant in DCST2 is associated with length in early life and height in adulthood. Human Molecular Genetics, 24 (4) ddu510, 1155-1168. doi: 10.1093/hmg/ddu510

Associations of vitamin D pathway genes with circulating 25-hydroxyvitamin-D, 1,25-dihydroxyvitamin-D, and prostate cancer: a nested case–control study

Gilbert, Rebecca, Bonilla, Carolina, Metcalfe, Chris, Lewis, Sarah, Evans, David M., Fraser, William D., Kemp, John P., Donovan, Jenny L., Hamdy, Freddie C., Neal, David E., Lane, J. Athene, Smith, George Davey, Lathrop, Mark and Martin, Richard M. (2015). Associations of vitamin D pathway genes with circulating 25-hydroxyvitamin-D, 1,25-dihydroxyvitamin-D, and prostate cancer: a nested case–control study. Cancer Causes and Control, 26 (2), 205-218. doi: 10.1007/s10552-014-0500-5

Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence

St Pourcain, Beate, 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 (2014). Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence. Human Genetics, 134 (6), 539-551. doi: 10.1007/s00439-014-1514-5

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Hohn, Rene, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Makela, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beate, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polasek, Ozren, Campbell, Harry, Bencic, Goran ... Guggenheim, Jeremy A. (2014). Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Human Genetics, 134 (2), 131-146. doi: 10.1007/s00439-014-1500-y

Genome-wide association study of height-adjusted BMI in childhood identifies functional variant in ADCY3

Stergiakouli, Evangelia, Gaillard, Romy, Tavare, Jeremy M., Balthasar, Nina, Loos, Ruth J., Taal, Hendrik R., Evans, David M., Rivadeneira, Fernando, St Pourcain, Beate, Uitterlinden, Andre G., Kemp, John P., Hofman, Albert, Ring, Susan M., Cole, Tim J., Jaddoe, Vincent W.V., Smith, George Davey and Timpson, Nicholas J. (2014). Genome-wide association study of height-adjusted BMI in childhood identifies functional variant in ADCY3. Obesity, 22 (10), 2252-2259. doi: 10.1002/oby.20840

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard ... Yang, Jian (2014). A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nature Communications, 5 (1) 4871, 1-10. doi: 10.1038/ncomms5871

Common variation near ROBO2 is associated with expressive vocabulary in infancy

St Pourcain, Beate, Cents, Rolieke A. M., Whitehouse, Andrew J. O., Haworth, Claire M. A., Davis, Oliver S. P., O'Reilly, Paul F., Roulstone, Susan, Wren, Yvonne, Ang, Qi W., Velders, Fleur P., Evans, David M., Kemp, John P., Warrington, Nicole M., Miller, Laura, Timpson, Nicholas J., Ring, Susan M., Verhulst, Frank C., Hofman, Albert, Rivadeneira, Fernando, Meaburn, Emma L., Price, Thomas S., Dale, Philip S., Pillas, Demetris, Yliherva, Anneli, Rodriguez, Alina, Golding, Jean, Jaddoe, Vincent W. V., Jarvelin, Marjo-Riitta, Plomin, Robert ... Smith, George Davey (2014). Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nature Communications, 5 (1) A4831, 1-9. doi: 10.1038/ncomms5831

Birth weight is positively related to bone size in adolescents but inversely related to cortical bone mineral density: findings from a large prospective cohort study

Steer, Colin D., Sayers, Adrian, Kemp, John, Fraser, William D. and Tobias, Jon H. (2014). Birth weight is positively related to bone size in adolescents but inversely related to cortical bone mineral density: findings from a large prospective cohort study. Bone, 65 (100), 77-82. doi: 10.1016/j.bone.2014.05.008

Cis and trans effects of human genomic variants on gene expression

Bryois, Julien, Buil, Alfonso, Evans, David M., Kemp, John P., Montgomery, Stephen B., Conrad, Donald F., Ho, Karen M., Ring, Susan, Hurles, Matthew, Deloukas, Panos, Smith, George Davey and Dermitzakis, Emmanouil T. (2014). Cis and trans effects of human genomic variants on gene expression. PLoS Genetics, 10 (7) e1004461, e1004461. doi: 10.1371/journal.pgen.1004461

Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies

Knipe, Duleeka W., Evans, David M., Kemp, John P., Eeles, Rosalind, Easton, Douglas F., Kote-Jarai, Zsofia, Al Omama, Ali Amin, Benlloch, Sara, Donovan, Jenny L., Hamdy, Freddie C., Neal, David E., Davey Smith, George, Lathrop, Mark and Martin, Richard M. (2014). Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. Cancer Epidemiology, Biomarkers and Prevention, 23 (7), 1356-1365. doi: 10.1158/1055-9965.EPI-13-0889

Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment

Kemp, John P., Medina-Gomez, Carolina, Estrada, Karol, St Pourcain, Beate, Heppe, Denise H. M., Warrington, Nicole M., Oei, Ling, Ring, Susan M., Kruithof, Claudia J., Timpson, Nicholas J., Wolber, Lisa E., Reppe, Sjur, Gautvik, Kaare, Grundberg, Elin, Ge, Bing, van der Eerden, Bram, van de Peppel, Jeroen, Hibbs, Matthew A., Ackert-Bicknell, Cheryl L., Choi, Kwangbom, Koller, Daniel L., Econs, Michael J., Williams, Frances M. K., Foroud, Tatiana, Carola Zillikens, M., Ohlsson, Claes, Hofman, Albert, Uitterlinden, Andre G., Davey Smith, George ... Evans, David M. (2014). Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. PLoS Genetics, 10 (6) e1004423, 1-18. doi: 10.1371/journal.pgen.1004423

Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

van der Valk, Ralf J. P., Duijts, Liesbeth, Timpson, Nicolas J., Salam, Muhammad T., Standl, Marie, Curtin, John A., Genuneit, Jon, Kerhof, Marjan, Kreiner-Møller, Eskil, Cáceres, Alejandro, Gref, Anna, Liang, Liming L., Taal, H. Rob, Bouzigon, Emmanuelle, Demenais, Florence, Nadif, Rachel, Ober, Carole, Thompson, Emma E., Estrada, Karol, Hofman, Albert, Uitterlinden, André G., van Duijn, Cornélia, Rivadeneira, Fernando, Li, Xia, Eckel, Sandrah P., Berhane, Kiros, Gauderman, W. James, Granell, Raquel, Evans, David M. ... de Jongste, Johan C. (2014). Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. Journal of Allergy and Clinical Immunology, 134 (1), 46-55. doi: 10.1016/j.jaci.2013.08.053

Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of beta-C-telopeptides of type I collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCT

Kemp, John P., Sayers, Adrian, Paternoster, Lavinia, Evans, David M., Deere, Kevin, St Pourcain, Beate, Timpson, Nicholas J., Ring, Susan M., Lorentzon, Mattias, Lehtimäki, Terho, Eriksson, Joel, Kähönen, Mika, Raitakari, Olli, Laaksonen, Marika, Sievänen, Harri, Viikari, Jorma, Lyytikäinen, Leo‐Pekka, Smith, George Davey, Fraser, William D., Vandenput, Liesbeth, Ohlsson, Claes and Tobias, Jon H. (2014). Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of beta-C-telopeptides of type I collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCT. Journal of Bone and Mineral Research, 29 (4), 1015-1024. doi: 10.1002/jbmr.2093

Childhood intelligence is heritable, highly polygenic and associated with FNBP1L

Benyamin, B., St Pourcain, B., Davis, O. S., Davies, G., Hansell, N. K., Brion, M. J., Kirkpatrick, R. M., Cents, R. A. M., Franic, S., Miller, M. B., Haworth, C. M. A., Meaburn, E., Price, T. S., Evans, D. M., Timpson, N., Kemp, J., Ring, S., McArdle, W., Medland, S. E., Yang, J., Harris, S. E., Liewald, D. C., Scheet, P., Xiao, X., Hudziak, J. J., de Geus, E. J. C., Wellcome Trust Case Control Consortium 2 (WTCCC2), Jaddoe, V. W. V., Starr, J. M. ... Visscher, P. M. (2014). Childhood intelligence is heritable, highly polygenic and associated with FNBP1L. Molecular Psychiatry, 19 (2), 253-258. doi: 10.1038/mp.2012.184

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

St Pourcain, Beate, Skuse, David H., Mandy, William P., Wang, Kai, Hakonarson, Hakon, Timpson, Nicholas J., Evans, David M., Kemp, John P., Ring, Susan M., McArdle, Wendy L., Golding, Jean and Smith, George Davey (2014). Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. Molecular Autism, 5 (1) 18, 18. doi: 10.1186/2040-2392-5-18

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

Hoggart, C. J., Venturini, G., Mangino, M., Gomez, F., Ascari, G., Zhao, J.H., Teumer, A., Winkler, T. W., Tsernikova, N., Luan, J., Mihailov, E., Ehret, G. B., Zhang, W., Lamparter, D., Esko, T., Mace, A., Rueger, S., Bochud, P.-Y., Barcella, M., Dauvilliers, Y., Benyamin, B., Evans, D. M., Hayward, C., Lopez, M. F., Franke, L., Russo, A., Heid, I. M., Salvi, E., Vendantam, S. ... Kutalik Z. (2014). Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index. PLoS Genetics, 10 (7) e1004508, 1-12. doi: 10.1371/journal.pgen.1004508

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

Cheng C.-Y., Schache M., Ikram M.K., Young T.L., Guggenheim J.A., Vitart V., MacGregor S., Verhoeven V.J.M., Barathi V.A., Liao J., Hysi P.G., Bailey-Wilson J.E., St. Pourcain B., Kemp J.P., McMahon G., Timpson N.J., Evans D.M., Montgomery G.W., Mishra A., Wang Y.X., Wang J.J., Rochtchina E., Polasek O., Wright A.F., Amin N., Van Leeuwen E.M., Wilson J.F., Pennell C.E., Van Duijn C.M. ... Baird P.N. (2013). Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. American Journal of Human Genetics, 93 (2), 264-277. doi: 10.1016/j.ajhg.2013.06.016

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

Bønnelykke, Klaus, Matheson, Melanie C., Pers, Tune H., Granell, Raquel, Strachan, David P., Alves, Alexessander Couto, Linneberg, Allan, Curtin, John A., Warrington, Nicole M., Standl, Marie, Kerkhof, Marjan, Jonsdottir, Ingileif, Bukvic, Blazenka K., Kaakinen, Marika, Sleimann, Patrick, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Schramm, Katharina, Baltic, Svetlana, Kreiner-Møller, Eskil, Simpson, Angela, St Pourcain, Beate, Coin, Lachlan, Hui, Jennie, Walters, Eugene H., Tiesler, Carla M. T., Duffy, David L., Jones, Graham, Ring, Susan M. ... Brown, Matthew A. (2013). Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. Nature Genetics, 45 (8), 902-906. doi: 10.1038/ng.2694

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

Cousminer D.L., Berry D.J., Timpson N.J., Ang W., Thiering E., Byrne E.M., Rob Taal H., Huikari V., Bradfield J.P., Kerkhof M., Groen-Blokhuis M.M., Kreiner-Moller E., Marinelli M., Holst C., Leinonen J.T., Perry J.R.B., Surakka I., Pietilainen O., Kettunen J., Anttila V., Kaakinen M., Sovio U., Pouta A., Das S., Lagou V., Power C., Prokopenko I., Evans D.M., Kemp J.P. ... Middeldorp, Christel (2013). Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Human Molecular Genetics, 22 (13), 2735-2747. doi: 10.1093/hmg/ddt104

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

den Hoed, Marcel, Eijgelsheim, Mark, Esko, Tonu, Brundel, Bianca J. J. M., Peal, David S., Evans, David M., Nolte, Ilja M., Segre, Ayellet V., Holm, Hilma, Handsaker, Robert E., Westra, Harm-Jan, Johnson, Toby, Isaacs, Aaron, Yang, Jian, Lundby, Alicia, Zhao, Jing Hua, Kim, Young Jin, Go, Min Jin, Almgren, Peter, Bochud, Murielle, Boucher, Gabrielle, Cornelis, Marilyn C., Gudbjartsson, Daniel, Hadley, David, van der Harst, Pim, Hayward, Caroline, den Heijer, Martin, Igl, Wilmar, Jackson, Anne U. ... Loos, Ruth J. F. (2013). Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics, 45 (6), 621-634. doi: 10.1038/ng.2610

Corrigendum: Common variants at 12q15 and 12q24 are associated with infant head circumference (vol 44, pg 532, 2012)

Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Moller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Monica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bonnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., EKim, Cecilia, Klopp, Norman, Lahti, Jari, Lye, Stephen J. ... Jaddoe, Vincent W. V. (2013). Corrigendum: Common variants at 12q15 and 12q24 are associated with infant head circumference (vol 44, pg 532, 2012). Nature Genetics, 45 (6), 713-713. doi: 10.1038/ng0613-713a

Genome-wide association study identifies loci affecting blood copper, selenium and zinc.

Evans, David M., Zhu, Gu, Dy, Veronica, Heath, Andrew C., Madden, Pamela A. F., Kemp, John P., McMahon, George, St Pourcain, Beate, Timpson, Nicholas J., Golding, Jean, Lawlor, Debbie A., Steer, Colin, Montgomery, Grant W., Martin, Nicholas G, Smith, George Davey and Whitfield, John B. (2013). Genome-wide association study identifies loci affecting blood copper, selenium and zinc.. Human Molecular Genetics, 22 (19), 3998-4006. doi: 10.1093/hmg/ddt239

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (vol 45, pg 314, 2013)

Verhoeven, Virginie J. M., Hysi, Pirro G., Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A., Hoehn, Rene, MacGregor, Stuart, Hewitt, Alex W., Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M. Kamran, Buitendijk, Gabrielle H. S., McMahon, George, Kemp, John P., St Pourcain, Beate, Simpson, Claire L., Makela, Kari-Matti, Lehtimaki, Terho, Kahonen, Mika, Paterson, Andrew D., Hosseini, S. Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B., Parssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping ... Hammond, Christopher J. (2013). Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (vol 45, pg 314, 2013). Nature Genetics, 45 (6), 712-712. doi: 10.1038/ng0613-712b

Using genetic proxies for lifecourse sun exposure to assess the causal relationship of sun exposure with circulating vitamin d and prostate cancer risk

Bonilla, C., Gilbert, R., Kemp, J. P., Timpson, N. J., Evans, D. M., Donovan, J. L., Hamdy, F. C., Neal, D. E., Fraser, W. D., Smith, G. D., Lewis, S. J., Lathrop, M. and Martin, R. M. (2013). Using genetic proxies for lifecourse sun exposure to assess the causal relationship of sun exposure with circulating vitamin d and prostate cancer risk. Cancer Epidemiology Biomarkers and Prevention, 22 (4), 597-606. doi: 10.1158/1055-9965.EPI-12-1248

Coordinated genetic scaling of the human eye: Shared determination of axial eye length and corneal curvature

Guggenheim, J. A., Zhou, X., Evans, D. M., Timpson, N. J., McMahon, G., Kemp, J. P., Pourcain, B. S., Northstone, K., Ring, S. M., Fan, Q., Wong, T. -Y., Cheng, C. Y., Khor, C. C., Aung, T., Saw, S. M. and Williams, C. (2013). Coordinated genetic scaling of the human eye: Shared determination of axial eye length and corneal curvature. Investigative Ophthalmology and Visual Science, 54 (3), 1715-1721. doi: 10.1167/iovs.12-10560

Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes

Granell, R., Henderson A. J., Timpson, N., St. Pourcain, B., Kemp, J. P., Ring, S. M., Ho, K., Montgomery, S. B., Dermitzakis, E. T., Evans, D. M. and Sterne, J. A. C. (2013). Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes. Journal of Allergy and Clinical Immunology, 131 (3), 685-694. doi: 10.1016/j.jaci.2012.09.021

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Verhoeven V.J.M., Hysi P.G., Wojciechowski R., Fan Q., Guggenheim J.A., Hohn R., Macgregor S., Hewitt A.W., Nag A., Cheng C.-Y., Yonova-Doing E., Zhou X., Ikram M.K., Buitendijk G.H.S., Mcmahon G., Kemp J.P., Pourcain B.S., Simpson C.L., Makela K.-M., Lehtimaki T., Kahonen M., Paterson A.D., Hosseini S.M., Wong H.S., Xu L., Jonas J.B., Parssinen O., Wedenoja J., Yip S.P. ... Hammond C.J. (2013). Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nature Genetics, 45 (3), 314-318. doi: 10.1038/ng.2554

Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women

Koller D.L., Zheng H.-F., Karasik D., Yerges-Armstrong L., Liu C.-T., McGuigan F., Kemp J.P., Giroux S., Lai D., Edenberg H.J., Peacock M., Czerwinski S.A., Choh A.C., McMahon G., St Pourcain B., Timpson N.J., Lawlor D.A., Evans D.M., Towne B., Blangero J., Carless M.A., Kammerer C., Goltzman D., Kovacs C.S., Prior J.C., Spector T.D., Rousseau F., Tobias J.H., Akesson K. ... Foroud T. (2013). Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women. Journal of Bone and Mineral Research, 28 (3), 547-558. doi: 10.1002/jbmr.1796

Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure

Paternoster, Lavinia, Lorentzon, Mattias, Lehtimaki, Terho, Eriksson, Joel, Kahonen, Mika, Raitakari, Olli, Laaksonen, Marika, Sievanen, Harri, Viikari, Jorma V, Lyytikainen, Leo-Pekka, Mellstrom, Dan, Karlsson, Magnus, Ljunggren, Osten, Grundberg, Elin, Kemp, John P., Sayers, Adrian, Nethander, Maria, Evans, David M., Vandenput, Liesbeth, Tobias, Jon H. and Ohlsson, Claes (2013). Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure. PLoS Genetics, 9 (2) e1003247, 1-15. doi: 10.1371/journal.pgen.1003247

A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha gene as a quantitative trait locus for eye size in white Europeans

Guggenheim, Jeremy A., McMahon, George, Kemp, John P., Akhtar, Saeed, St Pourcain, Beate, Northstone, Kate, Ring, Susan M., Evans, David M., Smith, George Davey, Timpson, Nicholas J. and Williams, Cathy (2013). A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha gene as a quantitative trait locus for eye size in white Europeans. Molecular Vision, 19, 243-253.

Body stature growth trajectories during childhood and the development of myopia

Northstone, Kate, Guggenheim, Jeremy A., Howe, Laura D., Tilling, Kate, Paternoster, Lavinia, Kemp, John P., McMahon, George and Williams, Cathy (2013). Body stature growth trajectories during childhood and the development of myopia. Ophthalmology, 120 (5), 1064-1073. doi: 10.1016/j.ophtha.2012.11.004

Common Variants in Left/Right Asymmetry Genes and Pathways Are Associated with Relative Hand Skill

Brandler, William M., Morris, Andrew P., Evans, David M., Scerri, Thomas S., Kemp, John P., Timpson, Nicholas J., St Pourcain, Beate, Smith, George Davey, Ring, Susan M., Stein, John, Monaco, Anthony P., Talcott, Joel B., Fisher, Simon E., Webber, Caleb and Paracchini, Silvia (2013). Common Variants in Left/Right Asymmetry Genes and Pathways Are Associated with Relative Hand Skill. PLoS Genetics, 9 (9) e1003751, e100375.1-e100375.11. doi: 10.1371/journal.pgen.1003751

Common variation contributes to the genetic architecture of social communication traits

St Pourcain, Beate, Whitehouse, Andrew J. O., Ang, Wei Q., Warrington, Nicole M., Glessner, Joseph T., Wang, Kai, Timpson, Nicholas J., Evans, David M., Kemp, John P., Ring,Susan M., McArdle, Wendy L., Golding, Jean, Hakonarson, Hakon, Pennell, Craig E. and Smith, George Davey (2013). Common variation contributes to the genetic architecture of social communication traits. Molecular Autism, 4 (1) 34, 34.1-34.12. doi: 10.1186/2040-2392-4-34

Distinct relationships of intramuscular and subcutaneous fat with cortical bone: Findings from a cross-sectional study of young adult males and females

Deere, K., Sayers, A., Viljakainen, H. T., Lawlor, D. A., Sattar, N., Kemp, J. P., Fraser, W. D. and Tobias, J. H. (2013). Distinct relationships of intramuscular and subcutaneous fat with cortical bone: Findings from a cross-sectional study of young adult males and females. Journal of Clinical Endocrinology and Metabolism, 98 (6), E1041-E1049. doi: 10.1210/jc.2013-1272

Genetic influences on trajectories of systolic blood pressure across childhood and adolescence

Howe, Laura D., Parmar, Priyakumari G., Paternoster, Lavinia, Warrington, Nicole M., Kemp, John P., Briollais, Laurent, Newnham, John P., Timpson, Nicholas J., Smith, George D., Ring, Susan M., Evans, David M., Tilling, Kate, Pennell, Craig E., Beilin, Lawrie J., Palmer, Lyle J. and Lawlor, Debbie A. (2013). Genetic influences on trajectories of systolic blood pressure across childhood and adolescence. Circulation: Cardiovascular Genetics, 6 (6), 608-614. doi: 10.1161/CIRCGENETICS.113.000197

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances

Fatemifar, Ghazaleh, Hoggart, Clive J., Paternoster, Lavinia, Kemp, John P., Prokopenko, Inga, Horikoshi, Momoko, Wright, Victoria J., Tobias, Jon H., Richmond, Stephen, Zhurov, Alexei I., Toma, Arshed M., Pouta, Anneli, Taanila, Anja, Sipila, Kirsi, Lahdesmaki, Raija, Pillas, Demetris, Geller, Frank, Feenstra, Bjarke, Melbye, Mads, Nohr, Ellen A., Ring, Susan M., St Pourcain, Beate, Timpson, Nicholas J., Smith, George D., Jarvelin, Marjo-Riitta and Evans, David M. (2013). Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. Human Molecular Genetics, 22 (18) ddt231, 3807-3817. doi: 10.1093/hmg/ddt231

Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates

Evans, David M., Brion, Marie Jo A., Paternoster, Lavinia, Kemp, John P., McMahon, George, Munafo, Marcus, Whitfield, John B., Medland, Sarah E., Montgomery, Grant W., The GIANT consortium, The CRP consortium, The TAG Consortium, Timpson, Nicholas J., St. Pourcain, Beate, Lawlor, Debbie A., Martin, Nicholas G., Dehghan, Abbas, Hirschhorn, Joel and Davey Smith, George (2013). Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates. PLoS Genetics, 9 (10) e1003919, e1003919.1-e1003919.15. doi: 10.1371/journal.pgen.1003919

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Horikoshi M., Yaghootkar H., Mook-Kanamori D.O., Sovio U., Taal H.R., Hennig B.J., Bradfield J.P., St Pourcain B., Evans D.M., Charoen P., Kaakinen M., Cousminer D.L., Lehtimaki T., Kreiner-Moller E., Warrington N.M., Bustamante M., Feenstra B., Berry D.J., Thiering E., Pfab T., Barton S.J., Shields B.M., Kerkhof M., Van Leeuwen E.M., Fulford A.J., Kutalik Z., Zhao J.H., Den Hoed M., Mahajan A. ... Freathy R.M. (2013). New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics, 45 (1), 76-82. doi: 10.1038/ng.2477

Seventy-five genetic loci influencing the human red blood cell

van der Harst, Pim, Zhang, Weihua, Leach, Irene Mateo, Rendon, Augusto, Verweij, Niek, Sehmi, Joban, Paul, Dirk S., Elling, Ulrich, Allayee, Hooman, Li, Xinzhong, Radhakrishnan, Aparna, Tan, Sian-Tsung, Voss, Katrin, Weichenberger, Christian X., Albers, Cornelis A., Al-Hussani, Abtehale, Asselbergs, Folkert W., Ciullo, Marina, Danjou, Fabrice, Dina, Christian, Esko, Tonu, Evans, David M., Franke, Lude, Goegele, Martin, Hartiala, Jaana, Hersch, Micha, Holm, Hilma, Hottenga, Jouke-Jan, Kanoni, Stavroula ... Chambers, John C. (2012). Seventy-five genetic loci influencing the human red blood cell. Nature, 492 (7429), 369-375. doi: 10.1038/nature11677

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk

Zheng, Hou-Feng, Tobias, Jon H., Duncan, Emma, Evans, David M., Eriksson, Joel, Paternoster, Lavinia, Yerges-Armstrong, Laura M., Lehtimaki, Terho, Bergstrom, Ulrica, Kahonen, Mika, Leo, Paul J., Raitakari, Olli, Laaksonen, Marika, Nicholson, Geoffrey C., Viikari, Jorma, Ladouceur, Martin, Lyytikainen, Leo-Pekka, Medina-Gomez, Carolina, Rivadeneira, Fernando, Prince, Richard L., Sievanen, Harri, Leslie, William D., Mellstrom, Dan, Eisman, John A., Moverare-Skrtic, Sofia, Goltzman, David, Hanley, David A., Jones, Graeme, Pourcain, Beate St. ... Lorentzon, Mattias (2012). WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk. Plos Genetics, 8 (7) e1002745, e1002745.1-e1002745.13. doi: 10.1371/journal.pgen.1002745

A genome-wide association meta-analysis identifies new childhood obesity loci

Bradfield, Jonathan P., Taal, H. Rob, Timpson, Nicholas J., Scherag, André, Lecoeur, Cecile, Warrington, Nicole M., Hypponen, Elina, Holst, Claus, Valcarcel, Beatriz, Thiering, Elisabeth, Salem, Rany M., Schumacher, Fredrick R., Cousminer, Diana L., Sleiman, Patrick M. A., Zhao, Jianhua, Berkowitz, Robert I., Vimaleswaran, Karani S., Jarick, Ivonne, Pennell, Craig E., Evans, David M., St Pourcain, Beate, Berry, Diane J., Mook-Kanamori, Dennis O., Hofman, Albert, Rivadeneira, Fernando, Uitterlinden, André G., van Duijn, Cornelia M., van der Valk, Ralf J. P., de Jongste, Johan C. ... Grant, Struan F. A. (2012). A genome-wide association meta-analysis identifies new childhood obesity loci. Nature Genetics, 44 (5), 526-531. doi: 10.1038/ng.2247

Common variants at 12q15 and 12q24 are associated with infant head circumference

Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Møller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Mònica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bønnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J. ... Middeldorp, Christel (2012). Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44 (5), 532-538. doi: 10.1038/ng.2238

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Duncan, Emma L., Ntzani, Evangelia E., Oei, Ling, Albagha, Omar M. E., Amin, Najaf, Kemp, John P., Koller, Daniel L., Li, Guo, Liu, Ching-Ti, Minster, Ryan L., Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Yerges-Armstrong, Laura M., Zheng, Hou-Feng, Alonso, Nerea, Eriksson, Joel, Kammerer, Candace M., Kaptoge, Stephen K., Leo, Paul J., Thorleifsson, Gudmar, Wilson, Scott G., Wilson, James F., Aalto, Ville ... Rivadeneira, Fernando (2012). Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genetics, 44 (5), 491-501. doi: 10.1038/ng.2249

Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position

Paternoster, Lavinia, Zhurov, Alexei I., Toma, Arshed M., Kemp, John P., St. Pourcain, Beate, Timpson, Nicholas J., McMahon, George, McArdle, Wendy, Ring, Susan M., Smith, George Davey, Richmond, Stephen and Evans, David M. (2012). Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. American Journal of Human Genetics, 90 (3), 478-485. doi: 10.1016/j.ajhg.2011.12.021

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

Paternoster, Lavinia, Standl, Marie, Chen, Chi-Mei, Ramasamy, Adaikalavan, Bonnelykke, Klaus, Duijts, Liesbeth, Ferreira, Manuel A., Alves, Alexessander C., Thyssen, Jacob P., Albrecht, Eva, Baurecht, Hansjorg, Feenstra, Bjarke, Sleiman, Patrick M. A., Hysi, Piro, Warrington, Nicole M., Curjuric, Ivan, Myhre, Ronny, Curtin, John A., Groen-Blokhuis, Maria M., Kerkhof, Marjan, Saaf, Annika, Franke, Andre, Ellinghaus, David, Folster-Holst, Regina, Dermitzakis, Emmanouil, Montgomery, Stephen B., Prokisch, Holger, Heim, Katharina, Hartikainen, Anna-Lisa ... EArly Genetics Lifecourse Epidemiology (EAGLE) Consortium (2012). Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nature Genetics, 44 (2), 187-192. doi: 10.1038/ng.1017

Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus

Medina-Gomez, Carolina, Kemp, John P., Estrada, Karol, Eriksson, Joel, Liu, Jeff, Reppe, Sjur, Evans, David M., Heppe, Denise H. M., Vandenput, Liesbeth, Herrera, Lizbeth, Ring, Susan M., Kruithof, Claudia J., Timpson, Nicholas J., Zillikens, M.C., Olstad, Ole K., Zheng, Hou-Feng, Richards, J. Brent, St. Pourcain, Beate, Hofman, Albert, Jaddoe, Vincent W. V., Smith, George Davey, Lorentzon, Mattias, Gautvik, Kaare M., Uitterlinden, Andre G., Brommage, Robert, Ohlsson, Claes, Tobias, Jonathan H. and Rivadeneira, Fernando (2012). Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus. PLoS Genetics, 8 (7) e1002718, e1002718.1-e1002718.14. doi: 10.1371/journal.pgen.1002718

Genome-wide population-based association study of extremely overweight young adults - the GOYA study

Paternoster, Lavinia, Evans, David M., Aagaard Nohr, Ellen, Holst, Claus, Gaborieau, Valerie, Brennan, Paul, Prior Gjesing, Anette, Grarup, Niels, Witte, Daniel R., Jorgensen, Torben, Linneberg, Allan, Lauritzen, Torsten, Sandbaek, Anelli, Hansen, Torben, Pedersen, Oluf, Elliott, Katherine S., Kemp, John P., St. Pourcain, Beate, McMahon, George, Zelenika, Diana, Hager, Jorg, Lathrop, Mark, Timpson, Nicholas J., Smith, George Davey and Sorensen, Thorkild I. A. (2011). Genome-wide population-based association study of extremely overweight young adults - the GOYA study. PLoS One, 6 (9) e24303, e24303.1-e24303.9. doi: 10.1371/journal.pone.0024303

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

Duncan, Emma L., Danoy, Patrick, Kemp, John P., Leo, Paul J., McCloskey, Eugene, Nicholson, Geoffrey C., Eastell, Richard, Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Reid, Ian R., Dennison, Elaine M., Wark, John, Richards, J. Brent, Uitterlinden, Andre G., Spector, Tim D., Esapa, Chris, Cox, Roger D., Brown, Steve D. M., Thakker, Rajesh V., Addison, Kathryn A., Bradbury, Linda A., Center, Jacqueline R., Cooper, Cyrus, Cremin, Catherine, Estrada, Karol, Felsenberg, Dieter, Glueer, Claus-C. ... Brown, Matthew A. (2011). Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genetics, 7 (4) e1001372, e1001372.1-e1001372.10. doi: 10.1371/journal.pgen.1001372

Adult height variants affect birth length and growth rate in children

Paternoster, Lavinia, Howe, Laura D., Tilling, Kate, Weedon, Michael N., Freathy, Rachel M., Frayling, Timothy M., Kemp, John P., Smith, George Davey, Timpson, Nicholas J., Ring, Susan M., Evans, David M. and Lawlor, Debbie A. (2011). Adult height variants affect birth length and growth rate in children. Human Molecular Genetics, 20 (20) ddr309, 4069-4075. doi: 10.1093/hmg/ddr309

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Kemp, John P., Smith, Paul M., Pyle, Angela, Neeve, Vivienne C. M., Tuppen, Helen A. L., Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmuller, Hanns, McFarland, Robert, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Taylor, Robert W. and Horvath, Rita (2011). Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain, 134 (1), 183-195. doi: 10.1093/brain/awq320

Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential Pleiotropic effects on bone

Paternoster, Lavinia, Lorentzon, Mattias, Vandenput, Liesbeth, Karlsson, Magnus K., Ljunggren, Osten, Kindmark, Andreas, Mellstrom, Dan, Kemp, John P., Jarett, Caroline E., Holly, Jeff M. P., Sayers, Adrian, St. Pourcain, Beate, Timpson, Nicholas J., Deloukas, Panos, Smith, George Davey, Ring, Ssusan M., Evans, David M., Tobias, Jon H. and Ohlsson, Claes (2010). Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential Pleiotropic effects on bone. PLoS Genetics, 6 (11) e1001217, e1001217.1-e1001217.12. doi: 10.1371/journal.pgen.1001217

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Andreas, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Guttab, Jayakar, Panul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Oku, Jorida, Gunther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmuller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar and Dimauro, Salvatore (2009). Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain, 132 (11), 3165-3174. doi: 10.1093/brain/awp221

Investigating a Potential Causal Relationship Between Maternal Blood Pressure During Pregnancy and Future Offspring Cardiometabolic Health

Wang, Geng, Bhatta, Laxmi, Moen, Gunn-Helen, Hwang, Liang-Dar, Kemp, John P., Bond, Tom A., Asvold, Bjorn Olav, Brumpton, Ben, Evans, David M. and Warrington, Nicole M. (2021). Investigating a Potential Causal Relationship Between Maternal Blood Pressure During Pregnancy and Future Offspring Cardiometabolic Health. NEW YORK: SPRINGER.

Identification and Validation of Targets for Osteoporosis: Evidence from Whole exome Sequencing in 42,263 individuals, CRISPR-Cas9 and murine models

Laurent, 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

An Atlas of Human and Murine Genetic Influences on Osteoporosis

Morris, 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

Genomic Prediction of Osteoporosis Using 426,000 Individuals from UK Biobank

Forgetta, 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.

Cathepsins B and S Are Novel Biomarkers for Bone Mineral Density: A Mendelian Randomization Study

Morris, 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.

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

Gregson, 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.

Using Mendelian randomization to investigate a possible causal relationship between adiposity and increased bone mineral density at different skeletal sites in children

Kemp, John, Sayers, Adrian, Smith, George Davey, Tobias, Jonathan and Evans, David (2016). Using Mendelian randomization to investigate a possible causal relationship between adiposity and increased bone mineral density at different skeletal sites in children. 46th Annual Meeting of the Behavior Genetics Association, Brisbane, Australia, 20-23 June 2016. New York, NY, United States: Springer.

Bivariate genetic association analysis of pediatric total-body DXA parameters identifies two novel genetic variants that jointly influence bone mineral content and bone area

Kemp, John P., Medina-Gomez, Carolina, Warrington, Nicole M., Heppe, Denise H. M., Timpson, Nicholas J., Oei, Ling, St Pourcain, Beate, Kruithof, Claudia J., Zillikens, M. Carola, Hofman, Albert, Uitterlinden, Andre G., Smith, George Davey, Jaddoe, Vincent W. V., Tobias, Jonathan H., Rivadeneira, Fernando and Evans, David M. (2014). Bivariate genetic association analysis of pediatric total-body DXA parameters identifies two novel genetic variants that jointly influence bone mineral content and bone area. Annual Meeting of the American Society for Bone and Mineral Research, Houston, Texas, United States, 12-15 September 2014. Hoboken, NJ, United States: Wiley-Blackwell Publishing.

Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of beta-C-telopeptides of type I collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCT

Kemp, John P., Sayers, Adrian, Evans, David M., Paternoster, Lavinia, Deere, Kevin, Lorentzon, Mattias, Lehtimaki, Terho, Eriksson, Joel, Kahonen, Mika, Raitakari, Olli, Laaksonen, Marika, Sievanen, Harri, Viikari, Jorma, Lyytikainen, Leo-Pekka, Fraser, William D., Vandenput, Liesbeth, Ohlsson, Claes and Tobias, Jonathan H. (2013). Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of beta-C-telopeptides of type I collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCT. Annual Meeting of the American Society for Bone and Mineral Research, Baltimore, MD, United States, 4-7 October 2013. Hoboken, NJ, United States: Wiley-Blackwell.

A Genome-Wide Association Meta-Analysis and a Mouse Gene Deletion Model Identify Wnt16 as a Potential Regulator of Cortical Bone Thickness

Tobias, Jonathan, Ohlsson, Claes, Paternoster, Lavinia, Lehtimaki, Terho, Kahonen, Mika, Raitakari, Olli, Laaksonen, Marika, Viikari, Jorma, Mellstrom, Dan, Moverare-Skitric, Sofia, Karlsson, Magnus, Ljunggren, Osten, Kemp, John P., Nethander, Maria, Vandenput, Liesbeth, Brommage, Robert, Liu, Jeff, Evans, David M. and Lorentzon, Mattias (2012). A Genome-Wide Association Meta-Analysis and a Mouse Gene Deletion Model Identify Wnt16 as a Potential Regulator of Cortical Bone Thickness. Osteoporosis and Bone Conference, Manchester England, Jul 01-04, 2012. LONDON: SPRINGER LONDON LTD.

Meta-Analysis of Genome-Wide Scans for Total Body Bmd Reveals An Interaction with Weight Bearing At the Wnt16 Locus

Kemp, John P., Medina-Gomez, Carolina, Estrada, Karol, Eriksson, Joel, Liu, Jeff, Reppe, Sjur, Evans, David M., Heppe, Denise, VandenPut, Liesbeth, Herrera, Lizbeth, Ring, Susan M., Kruithof, Claudia, Timpson, Nicholas J., Zillikens, M. Carola, Olstad, Ole K., Zheng, Hou-Feng, Richards, Brent, St Pourcain, Beate, Hofman, Albert, Jaddoe, Vincent W., Smith, George Davey, Lorentzon, Mattias, Gautvik, Kaare M., Uitterlinden, Andre G., Brommage, Robert, Ohlsson, Claes, Tobias, Jonathan H. and Rivadeneira, Fernando (2012). Meta-Analysis of Genome-Wide Scans for Total Body Bmd Reveals An Interaction with Weight Bearing At the Wnt16 Locus. Osteoporosis and Bone Conference, Manchester England, Jul 01-04, 2012. LONDON: SPRINGER LONDON LTD.

Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity, pleiotropy and age-specific effects at the WNT16 locus

Medina-Gomez, C., Kemp, J. P., Estrada, K., Eriksson, J., Liu, J., Reppe, S., Evans, D. M., Heppe, D., van den Put, L., Herrera, L., Ring, S. M., Kruithof, C., Timpson, N. J., Zillikens, M. C., Olstad, O. K., St Pourcain, B., Hofman, A., Jaddoe, V. W., Smith, G. D., Lorentzon, M., Gautvik, K. M., Uitterlinden, A. G., Brommage, R., Ohlsson, C., Tobias, J. H. and Rivadeneira, F. (2012). Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity, pleiotropy and age-specific effects at the WNT16 locus. 39th Annual Congress of the European-Calcified-Tissue-Society (ECTS), Stockholm Sweden, May 19-23, 2012. NEW YORK: ELSEVIER SCIENCE INC. doi: 10.1016/j.bone.2012.02.085