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2024 Journal Article The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fractureFaber, Benjamin G., Frysz, Monika, Zheng, Jaiyi, Lin, Huandong, Flynn, Kaitlyn A., Ebsim, Raja, Saunders, Fiona R., Beynon, Rhona, Gregory, Jennifer S., Aspden, Richard M., Harvey, Nicholas C., Lindner, Claudia, Cootes, Timothy, Evans, David M., Smith, George Davey, Gao, Xin, Wang, Sijia, Kemp, John P. and Tobias, Jonathan H. (2024). The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture. Human Molecular Genetics, 34 (3), 207-217. doi: 10.1093/hmg/ddae169 |
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2024 Journal Article Femoral neck width genetic risk score is a novel independent risk factor for hip fracturesTobias, 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, 39 (3), 241-251. doi: 10.1093/jbmr/zjae002 |
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2023 Journal Article 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 analysesFaber, 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 |
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2023 Journal Article Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosisMedina-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 |
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2023 Journal Article A GWAS meta‐analysis of alpha angle suggests cam‐type morphology may be a specific feature of hip osteoarthritis in older adultsFaber, 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 |
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2023 Journal Article Lowering of circulating sclerostin may increase risk of atherosclerosis and its risk factors: evidence from a genome‐wide association meta‐analysis followed by Mendelian randomizationZheng, 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 |
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2022 Journal Article Mendelian randomization analysis of factors related to ovulation and reproductive function and endometrial cancer riskD’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 |
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2022 Journal Article Regenerating zebrafish scales express a subset of evolutionary conserved genes involved in human skeletal diseaseBergen, 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 |
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2022 Journal Article Limb development genes underlie variation in human fingerprint patternsLi, 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 |
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2022 Journal Article Investigating a potential causal relationship between maternal blood pressure during pregnancy and future offspring cardiometabolic healthWang, 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 |
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2021 Journal Article Dnmt3a-mutated clonal hematopoiesis promotes osteoporosisKim, 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 |
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2021 Journal Article Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal diseaseYoulten, 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 |
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2021 Journal Article 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 |
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2021 Journal Article Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorptionMcDonald, 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 |
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2021 Journal Article Genome-wide association study of circulating interleukin 6 levels identifies novel lociAhluwalia, 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 |
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2021 Journal Article 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 2020Tobias, 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 |
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2020 Journal Article Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian womenSteinthorsdottir, Valgerdur, McGinnis, Ralph, Williams, Nicholas O., Stefansdottir, Lilja, Thorleifsson, Gudmar, Shooter, Scott, Fadista, João, Sigurdsson, Jon K., Auro, Kirsi M., Berezina, Galina, Borges, Maria-Carolina, Bumpstead, Suzannah, Bybjerg-Grauholm, Jonas, Colgiu, Irina, Dolby, Vivien A., Dudbridge, Frank, Engel, Stephanie M., Franklin, Christopher S., Frigge, Michael L., Frisbaek, Yr, Geirsson, Reynir T., Geller, Frank, Gretarsdottir, Solveig, Gudbjartsson, Daniel F., Harmon, Quaker, Hougaard, David Michael, Hegay, Tatyana, Helgadottir, Anna, Hjartardottir, Sigrun ... Morgan, Linda (2020). Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women. Nature Communications, 11 (1) 5976, 5976. doi: 10.1038/s41467-020-19733-6 |
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2020 Journal Article Genome-wide association study identifies 48 common genetic variants associated with handednessCuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M. B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J. C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali ... Medland, Sarah E. (2020). Genome-wide association study identifies 48 common genetic variants associated with handedness. Nature Human Behaviour, 5 (1), 59-70. doi: 10.1038/s41562-020-00956-y |
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2020 Journal Article The musculoskeletal knowledge portal: making omics data useful to the broader scientific communityKiel, Douglas P., Kemp, John P., Rivadeneira, Fernando, Westendorf, Jennifer J., Karasik, David, Duncan, Emma, Imai, Yuuki, Müller, Ralph, Flannick, Jason, Bonewald, Lynda and Burtt, Noel (2020). The musculoskeletal knowledge portal: making omics data useful to the broader scientific community. Journal of Bone and Mineral Research, 35 (9) jbmr.4147, 1626-1633. doi: 10.1002/jbmr.4147 |
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2020 Journal Article Development of a polygenic risk score to improve screening for fracture risk: a genetic risk prediction studyForgetta, Vincenzo, Keller-Baruch, Julyan, Forest, Marie, Durand, Audrey, Bhatnagar, Sahir, Kemp, John P., Nethander, Maria, Evans, Daniel, Morris, John A., Kiel, Douglas P., Rivadeneira, Fernando, Johansson, Helena, Harvey, Nicholas C., Mellström, Dan, Karlsson, Magnus, Cooper, Cyrus, Evans, David M., Clarke, Robert, Kanis, John A., Orwoll, Eric, McCloskey, Eugene V., Ohlsson, Claes, Pineau, Joelle, Leslie, William D., Greenwood, Celia M. T. and Richards, J. Brent (2020). Development of a polygenic risk score to improve screening for fracture risk: a genetic risk prediction study. PLOS Medicine, 17 (7) e1003152, e1003152. doi: 10.1371/journal.pmed.1003152 |
