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2024

Journal Article

The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture

Faber, 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

The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture

2024

Conference Publication

Variation In Hip Shape Amongst The General Population Is Unlikely To Have A Causal Effect On The Development Hip Osteoarthritis: Findings From A GWAS Meta-analysis And Mendelian Randomisation Study

Faber, Ben G., Frysz, Monika, Zheng, Jiayi, Lin, Huandong, Flynn, Kaitlyn, Ebsim, Raja, Saunders, Fiona, Beynon, Rhona, Gregory, Jenny, Aspden, Richard, Harvey, Nicholas, Lindner, Claudia, Cootes, Tim, Smith, George Davey, Evans, David, Gao, Xin, Wang, Sijia, Kemp, John and Tobias, Jon (2024). Variation In Hip Shape Amongst The General Population Is Unlikely To Have A Causal Effect On The Development Hip Osteoarthritis: Findings From A GWAS Meta-analysis And Mendelian Randomisation Study. 2024 OARSI World Congress on Osteoarthritis, Vienna, Austria, 18-21 April 2024. London, United Kingdom: Elsevier. doi: 10.1016/j.joca.2024.02.688

Variation In Hip Shape Amongst The General Population Is Unlikely To Have A Causal Effect On The Development Hip Osteoarthritis: Findings From A GWAS Meta-analysis And Mendelian Randomisation Study

2024

Conference Publication

Early findings from the Genetics of Osteoarthritis Endophenotypes Working Group: a genome-wide association meta-analysis of hip osteophytosis identifies IGFBP3

Faber, Ben G., Arbeeva, Liubov, Zheng, Jiayi, Beynon, Rhona, Jung, Mijin, Agricola, Rintje, Nelson, Amanda E., Golightly, Yvonne M., Wang, Sijia, Kemp, John, Tobias, Jon, Meurs, Joyce v. and Boer, Cindy (2024). Early findings from the Genetics of Osteoarthritis Endophenotypes Working Group: a genome-wide association meta-analysis of hip osteophytosis identifies IGFBP3. 2024 OARSI World Congress on Osteoarthritis, Vienna, Austria, 18-21 April 2024. London, United Kingdom: Elsevier. doi: 10.1016/j.joca.2024.02.715

Early findings from the Genetics of Osteoarthritis Endophenotypes Working Group: a genome-wide association meta-analysis of hip osteophytosis identifies IGFBP3

2024

Journal Article

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, 39 (3), 241-251. doi: 10.1093/jbmr/zjae002

Femoral neck width genetic risk score is a novel independent risk factor for hip fractures

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 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

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

2023

Journal Article

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

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

2023

Journal Article

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

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

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 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

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

2022

Journal Article

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

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

2022

Conference Publication

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. 2022 OARSI World Congress on Osteoarthritis, Online, 7-10 April 2022. London, United Kingdom: Elsevier. doi: 10.1016/j.joca.2022.02.051

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

2022

Journal Article

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

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

2022

Journal Article

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

Limb development genes underlie variation in human fingerprint patterns

2022

Journal Article

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

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

2021

Conference Publication

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. Behavior Genetics Association 51st Annual Meeting, Online (Zoom), 29 June 2021. New York, United States: Springer.

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

2021

Journal Article

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

Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis

2021

Journal Article

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

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

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

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))

2021

Journal Article

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

Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption

2021

Journal Article

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

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

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 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

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