Dr Joseph Powell
Honorary Associate Professor
Institute for Molecular Bioscience
Journal Articles
Senabouth, Anne, Andersen, Stacey, Shi, Qianyu, Shi, Lei, Jiang, Feng, Zhang, Wenwei, Wing, Kristof, Daniszewski, Maciej, Lukowski, Samuel W., Hung, Sandy S. C., Nguyen, Quan, Fink, Lynn, Beckhouse, Anthony, Pébay, Alice, Hewitt, Alex W. and Powell, Joseph E. (2020). Comparative performance of the BGI and Illumina sequencing technology for single-cell RNA-sequencing. NAR Genomics and Bioinformatics, 2 (2) doi: 10.1093/nargab/lqaa034
Sungnak, Waradon, Huang, Ni, Bécavin, Christophe, Berg, Marijn, Queen, Rachel, Litvinukova, Monika, Talavera-López, Carlos, Maatz, Henrike, Reichart, Daniel, Sampaziotis, Fotios, Worlock, Kaylee B., Yoshida, Masahiro, Barnes, Josephine L., Banovich, Nicholas E., Barbry, Pascal, Brazma, Alvis, Collin, Joseph, Desai, Tushar J., Duong, Thu Elizabeth, Eickelberg, Oliver, Falk, Christine, Farzan, Michael, Glass, Ian, Gupta, Ravindra K., Haniffa, Muzlifah, Horvath, Peter, Hubner, Norbert, Hung, Deborah, Kaminski, Naftali ... Figueiredo, Francisco (2020). SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes. Nature Medicine, 26 (5), 681-687. doi: 10.1038/s41591-020-0868-6
van der Wijst, Mgp, de Vries, D. H., Groot, H. E., Trynka, G., Hon, C. C., Bonder, M. J., Stegle, O., Nawijn, M. C., Idaghdour, Y., van der Harst, P., Ye, C. J., Powell, J., Theis, F. J., Mahfouz, A., Heinig, M. and Franke, L. (2020). The single-cell eQTLGen consortium. eLife, 9 e52155 doi: 10.7554/eLife.52155
Lukowski, Samuel W., Lo, Camden Y., Sharov, Alexei A., Nguyen, Quan, Fang, Lyujie, Hung, Sandy S. C., Zhu, Ling, Zhang, Ting, Grünert, Ulrike, Nguyen, Tu, Senabouth, Anne, Jabbari, Jafar S., Welby, Emily, Sowden, Jane C., Waugh, Hayley S., Mackey, Adrienne, Pollock, Graeme, Lamb, Trevor D., Wang, Peng-Yuan, Hewitt, Alex W., Gillies, Mark C., Powell, Joseph E. and Wong, Raymond C. B. (2019). A single-cell transcriptome atlas of the adult human retina. The EMBO Journal, 38 (18) e100811, e100811. doi: 10.15252/embj.2018100811
Senabouth, Anne, Lukowski, Samuel W., Hernandez, Jose Alquicira, Andersen, Stacey B., Mei, Xin, Nguyen, Quan H. and Powell, Joseph E. (2019). ascend: R package for analysis of single-cell RNA-seq data. GigaScience, 8 (8) giz087 doi: 10.1093/gigascience/giz087
Zeng, Biao, Lloyd-Jones, Luke R., Montgomery, Grant W., Metspalu, Andres, Esko, Tonu, Franke, Lude, Vosa, Urmo, Claringbould, Annique, Brigham, Kenneth L., Quyyumi, Arshed A., Idaghdour, Youssef, Yang, Jian, Visscher, Peter M., Powell, Joseph E. and Gibson, Greg (2019). Comprehensive multiple eQTL detection and its application to GWAS interpretation. Genetics, 212 (3), 905-918. doi: 10.1534/genetics.119.302091
Lukowski, Samuel W., Patel, Jatin, Andersen, Stacey B., Sim, Seen-Ling, Wong, Ho Yi, Tay, Joshua, Winkler, Ingrid, Powell, Joseph E. and Khosrotehrani, Kiarash (2019). Single-cell transcriptional profiling of aortic endothelium identifies a hierarchy from endovascular progenitors to differentiated cells. Cell Reports, 27 (9), 2748-2758.e3. doi: 10.1016/j.celrep.2019.04.102
McRae, Allan F., Marioni, Riccardo E., Shah, Sonia, Yang, Jian, Powell, Joseph E., Harris, Sarah E., Gibson, Jude, Henders, Anjali K., Bowdler, Lisa, Painter, Jodie N., Murphy, Lee, Martin, Nicholas G., Starr, John M., Wray, Naomi R., Deary, Ian J., Visscher, Peter M. and Montgomery, Grant W. (2018). Identification of 55,000 replicated DNA methylation QTL. Scientific Reports, 8 (1) 17605, 17605. doi: 10.1038/s41598-018-35871-w
Friedman, Clayton E., Nguyen, Quan, Lukowski, Samuel W., Helfer, Abbigail, Chiu, Han Sheng, Miklas, Jason, Levy, Shiri, Suo, Shengbao, Han, Jing-Dong Jackie, Osteil, Pierre, Peng, Guangdun, Jing, Naihe, Baillie, Greg J., Senabouth, Anne, Christ, Angelika N., Bruxner, Timothy J., Murry, Charles E., Wong, Emily S., Ding, Jun, Wang, Yuliang, Hudson, James, Ruohola-Baker, Hannele, Bar-Joseph, Ziv, Tam, Patrick P.L., Powell, Joseph E. and Palpant, Nathan J. (2018). Single-cell transcriptomic analysis of cardiac differentiation from human PSCs reveals HOPX-dependent cardiomyocyte maturation. Cell Stem Cell, 23 (4), 586-598. doi: 10.1016/j.stem.2018.09.009
Chambers, Daniel C., Carew, Alan M., Lukowski, Samuel W. and Powell, Joseph E. (2018). Transcriptomics and single-cell RNA-sequencing. Respirology, 24 (1), 29-36. doi: 10.1111/resp.13412
Daniszewski, Maciej, Nguyen, Quan, Chy, Hun S., Singh, Vikrant, Crombie, Duncan E., Kulkarni, Tejal, Liang, Helena H., Sivakumaran, Priyadharshini, Lidgerwood, Grace E., Hernández, Damián, Conquest, Alison, Rooney, Louise A., Chevalier, Sophie, Andersen, Stacey B., Senabouth, Anne, Vickers, James C., Mackey, David A., Craig, Jamie E., Laslett, Andrew L., Hewitt, Alex W., Powell, Joseph E. and Pébay, Alice (2018). Single-cell profiling identifies key pathways expressed by iPSCs cultured in different commercial media. iScience, 7, 30-39. doi: 10.1016/j.isci.2018.08.016
Fung, Jenny N., Mortlock, Sally, Girling, Jane E., Holdsworth-Carson, Sarah J., Teh, Wan Tinn, Zhu, Zhihong, Lukowski, Samuel W., McKinnon, Brett D., McRae, Allan, Yang, Jian, Healey, Martin, Powell, Joseph E., Rogers, Peter A. W. and Montgomery, Grant W (2018). Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome. Scientific Reports, 8 (1) 11424, 11424. doi: 10.1038/s41598-018-29462-y
Ramnath, Divya, Irvine, Katharine M., Lukowski, Samuel W., Horsfall, Leigh U., Loh, Zhixuan, Clouston, Andrew D., Patel, Preya J., Fagan, Kevin J., Iyer, Abishek, Lampe, Guy, Stow, Jennifer L., Schroder, Kate, Fairlie, David P., Powell, Joseph E., Powell, Elizabeth E. and Sweet, Matthew J. (2018). Hepatic expression profiling identifies steatosis-independent and steatosis-driven advanced fibrosis genes. JCI Insight, 3 (14) doi: 10.1172/jci.insight.120274
De Smit, Elisabeth, Lukowski, Samuel W., Anderson, Lisa, Senabouth, Anne, Dauyey, Kaisar, Song, Sharon, Wyse, Bruce, Wheeler, Lawrie, Chen, Christine Y., Cao, Khoa, Wong Ten Yuen, Amy, Shuey, Neil, Clarke, Linda, Lopez Sanchez, Isabel, Hung, Sandy S. C., Pébay, Alice, Mackey, David A., Brown, Matthew A., Hewitt, Alex W. and Powell, Joseph E. (2018). Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis. BMC Medical Genomics, 11 (1) 61, 61. doi: 10.1186/s12920-018-0376-4
Lukowski, S. W., Tuong, Z. K., Noske, K., Senabouth, A., Nguyen, Q. H., Andersen, S. B., Soyer, H. P., Frazer, I. H. and Powell, J. E. (2018). Detection of HPV E7 transcription at single-cell resolution in epidermis. The Journal of Investigative Dermatology, 138 (12), 2558-2567. doi: 10.1016/j.jid.2018.06.169
Yap, Chloe X., Lloyd-Jones, Luke, Holloway, Alexander, Smartt, Peter, Wray, Naomi R., Gratten, Jacob and Powell, Joseph E. (2018). Trans-eQTLs identified in whole blood have limited influence on complex disease biology. European Journal of Human Genetics, 26 (9), 1-8. doi: 10.1038/s41431-018-0174-7
Nguyen, Quan H., Lukowski, Samuel W., Chiu, Han Sheng, Senabouth, Anne, Bruxner, Timothy J.C., Christ, Angelika N., Palpant, Nathan J. and Powell, Joseph E. (2018). Single-cell RNA-seq of human induced pluripotent stem cells reveals cellular heterogeneity and cell state transitions between subpopulations. Genome Research, 28 (7), 1053-1066. doi: 10.1101/gr.223925.117
Daniszewski, Maciej, Senabouth, Anne, Nguyen, Quan H., Crombie, Duncan E., Lukowski, Samuel W., Kulkarni, Tejal, Sluch, Valentin M., Jabbari, Jafar S., Chamling, Xitiz, Zack, Donald J., Pébay, Alice, Powell, Joseph E. and Hewitt, Alex W. (2018). Single cell RNA sequencing of stem cell-derived retinal ganglion cells. Scientific Data, 5 (1) 180013, 1-9. doi: 10.1038/sdata.2018.13
Qiao, Zhen, Powell, Joseph E. and Evans, David M. (2018). MHC-dependent mate selection within 872 spousal pairs of European ancestry from the health and retirement study. Genes, 9 (1) 53, 53. doi: 10.3390/genes9010053
Robins, Chloe, McRae, Allan F., Powell, Joseph E., Wiener, Howard W., Aslibekyan, Stella, Kennedy, Elizabeth M., Absher, Devin M., Arnett, Donna K., Montgomery, Grant W., Visscher, Peter M., Cutler, David J. and Conneely, Karen N. (2017). Testing two evolutionary theories of human aging with DNA methylation data. Genetics, 207 (4), 1547-1560. doi: 10.1534/genetics.117.300217
Nayler, Sam P., Powell, Joseph E., Vanichkina, Darya P., Korn, Othmar, Wells, Christine A., Kanjhan, Refik, Sun, Jian, Taft, Ryan J., Lavin, Martin F. and Wolvetang, Ernst J. (2017). Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks. Frontiers in Cellular Neuroscience, 11 321, 321. doi: 10.3389/fncel.2017.00321
Lukowski, Samuel W., Lloyd-Jones, Luke R., Holloway, Alexander, Kirsten, Holger, Hemani, Gibran, Yang, Jian, Small, Kerrin, Zhao, Jing, Metspalu, Andres, Dermitzakis, Emmanouil T., Gibson, Greg, Spector, Timothy D., Thiery, Joachim, Scholz, Markus, Montgomery, Grant W., Esko, Tonu, Visscher, Peter M. and Powell, Joseph E. (2017). Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood. Nature Communications, 8 (483) 483, 483. doi: 10.1038/s41467-017-00473-z
Zeng, Biao, Lloyd-Jones, Luke R., Holloway, Alexander, Marigorta, Urko M., Metspalu, Andres, Montgomery, Grant W., Esko, Tonu, Brigham, Kenneth L., Quyyumi, Arshed A., Idaghdour, Youssef, Yang, Jian, Visscher, Peter M., Powell, Joseph E. and Gibson, Greg (2017). Constraints on eQTL fine mapping in the presence of multisite local regulation of gene expression. G3: Genes Genomes Genetics, 7 (8), 2533-2544. doi: 10.1534/g3.117.043752
Fung, Jenny N., Girling, Jane E., Lukowski, Samuel W., Sapkota, Yadav, Wallace, Leanne, Holdsworth-Carson, Sarah J., Henders, Anjali K., Healey, Martin, Rogers, Peter A. W., Powell, Joseph E. and Montgomery, Grant W. (2017). The genetic regulation of transcription in human endometrial tissue. Human Reproduction, 32 (4), 893-904. doi: 10.1093/humrep/dex006
Lloyd-Jones, Luke R., Holloway, Alexander, McRae, Allan, Yang, Jian, Small, Kerrin, Zhao, Jing, Zeng, Biao, Bakshi, Andrew, Metspalu, Andres, Dermitzakis, Manolis, Gibson, Greg, Spector, Tim, Montgomery, Grant, Esko, Tonu, Visscher, Peter M. and Powell, Joseph E. (2017). The Genetic Architecture of Gene Expression in Peripheral Blood (vol 100, pg 228, 2017). American Journal of Human Genetics, 100 (2), 371-371. doi: 10.1016/j.ajhg.2017.01.026
Gerring, Zachary F., Powell, Joseph E., Montgomery, Grant W. and Nyholt, Dale R. (2017). Genome-wide analysis of blood gene expression in migraine implicates immune-inflammatory pathways. Cephalalgia, 38 (2), 292-303. doi: 10.1177/0333102416686769
Lloyd-Jones, Luke R., Holloway, Alexander, McRae, Allan, Yang, Jian, Small, Kerrin, Zeng, Biao, Bakshi, Andrew, Metspalu, Andres, Dermitzakis, Manolis, Gibson, Greg, Spector, Tim, Montgomery, Grant, Esko, Tonu, Visscher, Peter M. and Powell, Joseph E. (2017). The genetic architecture of gene expression in peripheral blood. American Journal of Human Genetics, 100 (2), 228-237. doi: 10.1016/j.ajhg.2016.12.008
Kassam, Irfahan, Lloyd-Jones, Luke, Holloway, Alexander, Small, Kerrin S., Zeng, Biao, Bakshi, Andrew, Metspalu, Andres, Gibson, Greg, Spector, Tim D., Esko, Tonu, Montgomery, Grant W., Powell, Joseph E., Yang, Jian, Visscher, Peter M. and McRae, Allan F. (2016). Autosomal genetic control of human gene expression does not differ across the sexes. Genome Biology, 17 (1) 248, 248.1-248.10. doi: 10.1186/s13059-016-1111-0
Powell, Joseph E., Fung, Jenny N., Shakhbazov, Konstantin, Sapkota, Yadav, Cloonan, Nicole, Hemani, Gibran, Hillman, Kristine M., Kaufmann, Susanne, Luong, Hien T., Bowdler, Lisa, Painter, Jodie N., Holdsworth-Carson, Sarah J., Visscher, Peter M., Dinger, Marcel E., Healey, Martin, Nyholt, Dale R., French, Juliet D., Edwards, Stacey L., Rogers, Peter A. W. and Montgomery, Grant W. (2016). Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339. Human Molecular Genetics, 25 (22), 5046-5058. doi: 10.1093/hmg/ddw320
Kassam, Irfahan, Qi, Tuan, Lloyd-Jones, Luke, Holloway, Alexander, Bonder, Marc Jan, Henders, Anjali K., Martin, Nicholas G., Powell, Joseph E., Franke, Lude, Montgomery, Grant W., Visscher, Peter M. and McRae, Allan F. (2016). Evidence for mitochondrial genetic control of autosomal gene expression. Human Molecular Genetics, 25 (24), 5332-5338. doi: 10.1093/hmg/ddw347
Gerring, Zachary, Rodriguez-Acevedo, Astrid J., Powell, Joseph E., Griffiths, Lyn R., Montgomery, Grant W. and Nyholt, Dale R. (2016). Blood gene expression studies in migraine: potential and caveats. Cephalalgia, 36 (7), 669-678. doi: 10.1177/0333102416628463
Hung, Sandy S. C., Chrysostomou, Vicki, Li, Fan, Lim, Jeremiah K. H., Wang, Jiang-Hui, Powell, Joseph E., Tu, Leilei, Daniszewski, Maciej, Lo, Camden, Wong, Raymond C., Crowston, Jonathan G., Pebay, Alice, King, Anna E., Bui, Bang V., Liu, Guei-Sheung and Hewitt, Alex W. (2016). AAV-mediated CRISPR/Cas gene editing of retinal cells in vivo. Investigative Ophthalmology and Visual Science, 57 (7), 3470-3476. doi: 10.1167/iovs.16-19316
Holdsworth-Carson, Sarah J., Fung, Jenny N., Luong, Hien T. T., Sapkota, Yadav, Bowdler, Lisa M., Wallace, Leanne, Teh, Wan Tinn, Powell, Joseph E., Girling, Jane E., Healey, Martin, Montgomery, Grant W. and Rogers, Peter A. W. (2016). Endometrial vezatin and its association with endometriosis risk. Human Reproduction, 31 (5), 999-1013. doi: 10.1093/humrep/dew047
Zhu, Zhihong, Zhang, Futao, Hu, Han, Bakshi, Andrew, Robinson, Matthew R., Powell, Joseph E., Montgomery,Grant W., Goddard, Michael E., Wray, Naomi R., Visscher, Peter M. and Yang, Jian (2016). Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nature Genetics, 48 (5), 481-487. doi: 10.1038/ng.3538
Shakhbazov, Konstantin, Powell, Joseph E., Hemani, Gibran, Henders, Anjali K., Martin, Nicholas G., Visscher, Peter M., Montgomery, Grant W. and McRae, Allan F. (2016). Shared genetic control of expression and methylation in peripheral blood. BMC Genomics, 17 (1) 278, 278. doi: 10.1186/s12864-016-2498-4
McKay, Fiona C., Gatt, Prudence N., Fewings, Nicole, Parnell, Grant P., Schibeci, Stephen D., Basuki, Monica A. I., Powell, Joseph E., Goldinger, Anita, Fabis-Pedrini, Marzena J., Kermode, Allan G., Burke, Therese, Vucic, Steve, Stewart, Graeme J. and Booth, David R. (2016). The low EOMES/TBX21 molecular phenotype in multiple sclerosis reflects CD56+ cell dysregulation and is affected by immunomodulatory therapies. Clinical Immunology, 163, 96-107. doi: 10.1016/j.clim.2015.12.015
Pilling, L.C., Joehanes, R., Kacprowski,T., Peters, M., Jansen, R., Karasik, D., Kiel, D.P., Harries, L.W., Teumer, A., Powell, J., Levy, D., Lin, H., Lunetta, K., Munson, P., Bandinelli, S., Henley, W., Hernandez, D., Singleton, A., Tanaka, T., van Grootheest, G., Hofman, A., Uitterlinden, A.G., Biffar, R., Glaser, S., Homuth, G., Malsch, C., Volker, U., Penninx, B., van Meurs, J.B.J. ... Melzer, D. (2016). Gene transcripts associated with muscle strength: A CHARGE meta-analysis of 7,781 persons. Physiological Genomics, 48 (1), 1-11. doi: 10.1152/physiolgenomics.00054.2015
Peters, Marjolein J., Joehanes, Roby, Pilling, Luke C., Schurmann, Claudia, Conneely, Karen N., Powell, Joseph, Reinmaa, Eva, Sutphin, George L., Zhernakova, Alexandra, Schramm, Katharina, Wilson, Yana A., Kobes, Sayuko, Tukiainen, Taru, Ramos, Yolande F., Goring, Harald H. H., Fornage, Myriam, Liu, Yongmei, Gharib, Sina A., Stranger, Barbara E., De Jager, Philip L., Aviv, Abraham, Levy, Daniel, Murabito, Joanne M., Munson, Peter J., Huan, Tianxiao, Hofman, Albert, Uitterlinden, Andre G., Rivadeneira, Fernando, Van Rooij, Jeroen ... NABEC/UKBEC Consortium (2015). The transcriptional landscape of age in human peripheral blood. Nature Communications, 6 (1) 8570, 8570.1-8570.14. doi: 10.1038/ncomms9570
Robinson, Matthew R., Hemani, Gibran, Medina-Gomez, Carolina, Mezzavilla, Massimo, Esko, Tonu, Shakhbazov, Konstantin, Powell, Joseph E., Vinkhuyzen, Anna, Berndt, Sonja I., Gustafsson, Stefan, Justice, Anne E., Kahali, Bratati, Locke, Adam E., Pers, Tune H., Vedantam, Sailaja, Wood, Andrew R., van Rheenen, Wouter, Andreassen, Ole A., Gasparini, Paolo, Metspalu, Andres, van den Berg, Leonard H., Veldink, Jan H., Rivadeneira, Fernando, Werge, Thomas M., Abecasis, Goncalo R., Boomsma, Dorret I., Chasman, Daniel I., de Geus, Eco J. C., Frayling, Timothy M. ... Visscher, Peter M. (2015). Population genetic differentiation of height and body mass index across Europe. Nature Genetics, 47 (11), 1357-1361. doi: 10.1038/ng.3401
Gibson, Greg, Powell, Joseph E. and Marigorta, Urko M. (2015). Expression quantitative trait locus analysis for translational medicine. Genome Medicine, 7 (1) 60, 1-14. doi: 10.1186/s13073-015-0186-7
Goldinger, Anita, Shakhbazov, Konstantin, Henders, Anjali K., McRae, Allan F., Montgomery, Grant W. and Powell, Joseph E. (2015). Seasonal effects on gene expression. PLoS ONE, 10 (5) e0126995, 1-16. doi: 10.1371/journal.pone.0126995
McGovern, Alice E, Driessen, Alexandria K, Simmons, David G, Powell, Joseph, Davis-Poynter, Nicholas, Farrell, Michael J and Mazzone, Stuart B (2015). Distinct brainstem and forebrain circuits receiving tracheal sensory neuron inputs revealed using a novel conditional anterograde transsynaptic viral tracing system.. Journal of Neuroscience, 35 (18), 7041-7055. doi: 10.1523/JNEUROSCI.5128-14.2015
Benyamin, Beben, Esko, Tonu, Ried, Janina S., Radhakrishnan, Aparna, Vermeulen, Sita H., Traglia, Michela, Goegele, Martin, Anderson, Denise, Broer, Linda, Podmore, Clara, Luan, Jianan, Kutalik, Zoltan, Sanna, Serena, van der Meer, Peter, Tanaka, Toshiko, Wang, Fudi, Westra, Harm-Jan, Franke, Lude, Mihailov, Evelin, Milani, Lili, Haelldin, Jonas, Winkelmann, Juliane, Meitinger, Thomas, Thiery, Joachim, Peters, Annette, Waldenberger, Melanie, Rendon, Augusto, Jolley, Jennifer, Sambrook, Jennifer ... Whitfield, John B. (2015). Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis (vol 5, 4926, 2014). Nature Communications, 6 (1) 6542, 1-1. doi: 10.1038/ncomms7542
Robinson, Philip C., Claushuis, Theodora A. M., Cortes, Adrian, Martin, Tammy M., Evans, David M., Leo, Paul, Mukhopadhyay, Pamela, Bradbury, Linda A., Cremin, Katie, Harris, Jessica, Maksymowych, Walter P., Inman, Robert D., Rahman, Proton, Haroon, Nigil, Gensler, Lianne, Powell, Joseph E., Van Der Horst-Bruinsma, Irene E., Hewitt, Alex W., Craig, Jamie E., Lim, Lyndell L., Wakefield, Denis, McCluskey, Peter, Voigt, Valentina, Fleming, Peter, Spondyloarthritis Research Consortium of Canada, Australio-Anglo-American Spondylitis Consortium, International Genetics of Ankylosing Spondylitis Consortium, Wellcome Trust Case Control Study 2, Degli-Esposti, Mariapia ... Brown, Matthew A. (2015). Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis. Arthritis and Rheumatology, 67 (1), 140-151. doi: 10.1002/art.38873
Wood, Andrew R., Esko, Tonu, Yang, Jian, Vedantam, Sailaja, Pers, Tune H., Gustafsson, Stefan, Chu, Audrey Y., Estrada, Karol, Luan, Jian'an, Kutalik, Zoltan, Amin, Najaf, Buchkovich, Martin L., Croteau-Chonka, Damien C., Day, Felix R., Duan, Yanan, Fall, Tove, Fehrmann, Rudolf, Ferreira, Teresa, Jackson, Anne U., Karjalainen, Juha, Lo, Ken Sin, Locke, Adam E., Magi, Reedik, Mihailov, Evelin, Porcu, Evelin, Randall, Joshua C., Scherag, Andre, Vinkhuyzen, Anne A. E., Westra, Harm-Jan ... Frayling, Timothy M. (2014). Defining the role of common variation in the genomic and biological architecture of adult human height. Nature Genetics, 46 (11), 1173-1186. doi: 10.1038/ng.3097
Benyamin, Beben, Esko, Tonu, Ried, Janina S., Radhakrishnan, Aparna, Vermeulen, Sita H., Traglia, Michela, Goegele, Martin, Anderson, Denise, Broer, Linda, Podmore, Clara, Luan, Jian'an, Kutalik, Zoltan, Sanna, Serena, van der Meer, Peter, Tanaka, Toshiko, Wang, Fudi, Westra, Harm-Jan, Franke, Lude, Mihailov, Evelin, Milani, Lili, Haeldin, Jonas, Winkelmann, Juliane, Meitinger, Thomas, Thiery, Joachim, Peters, Annette, Waldenberger, Melanie, Rendon, Augusto, Jolley, Jennifer, Sambrook, Jennifer ... Whitfield, John B. (2014). Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nature Communications, 5 (1) 5926, 4926.1-4926.10. doi: 10.1038/ncomms5926
Hemani, Gibran, Shakhbazov, Konstantin, Westra, Harm-Jan, Esko, Tonu, Henders, Anjali K., McRae, Allan F., Yang, Jian, Gibson, Greg, Martin, Nicholas G., Metspalu, Andres, Franke, Lude, Montgomery, Grant W., Visscher, Peter M. and Powell, Joseph E. (2014). Another explanation for apparent epistasis: reply. Nature, 514 (7520), E5-E6. doi: 10.1038/nature13692
McKenzie, Marna, Henders, Anjali K., Caracella, Anthony, Wray, Naomi R. and Powell, Joseph E. (2014). Overlap of expression Quantitative Trait Loci (eQTL) in human brain and blood. BMC Medical Genomics, 7 (1) 31, 1-11. doi: 10.1186/1755-8794-7-31
McRae, Allan F., Powell, Joseph E., Henders, Anjali K., Bowdler, Lisa, Hemani, Gibran, Shah, Sonia, Painter, Jodie N., Martin, Nicholas G., Visscher, Peter M. and Montgomery, Grant W. (2014). Contribution of genetic variation to transgenerational inheritance of DNA methylation. Genome Biology, 15 (5), 1-10. doi: 10.1186/gb-2014-15-5-r73
Hemani, Gibran, Shakhbazov, Konstantin, Westra, Harm-Jan, Esko, Tonu, Henders, Anjali K., McRae, Allan F., Yang, Jian, Gibson, Greg, Martin, Nicholas G., Metspalu, Andres, Franke, Lude, Montgomery, Grant W., Visscher, Peter M. and Powell, Joseph E. (2014). Detection and replication of epistasis influencing transcription in humans. Nature, 508 (7495), 249-253. doi: 10.1038/nature13005
Hemani, Gibran, Yang, Jian, Vinkhuyzen, Anna, Powell, Joseph E., Willemsen, Gonneke, Hottenga, Jouke-Jan, Abdellaoui, Abdel, Mangino, Massimo, Valdes, Ana M., Medland, Sarah E., Madden, Pamela A., Heath, Andrew C., Henders, Anjali K., Nyholt, Dale R., de Geus, Eco J. C., Magnusson, Patrik K. E., Ingelsson, Erik, Montgomery, Grant W., Spector, Timothy D., Boomsma, Dorret I., Pedersen, Nancy L., Martin, Nicholas G. and Visscher, Peter M. (2013). Inference of the Genetic Architecture Underlying BMI and Height with the Use of 20,240 Sibling Pairs. American Journal of Human Genetics, 93 (5), 865-875. doi: 10.1016/j.ajhg.2013.10.005
Revez, J. A., Bain, L., Chapman, B., Powell, J. E., Jansen, R., Duffy, D. L., Tung, J. Y., AAGC Collaborators, Penninx, B. W., Visscher, P. M., De Geus, E. J. C., Boomsma, D. I., Hinds, D. A., Martin, N. G., Montgomery, G. W., Ferreira, M. A. R., Danoy, Patrick and Brown, Matthew A. (2013). A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk. Genes and Immunity, 14 (7), 441-446. doi: 10.1038/gene.2013.38
Ripke, Stephan, O'Dushlaine, Colm, Chambert, Kimberly, Moran, Jennifer L., Kaehler, Anna K., Akterin, Susanne, Bergen, Sarah E., Collins, Ann L., Crowley, James J., Fromer, Menachem, Kim, Yunjung, Lee, Sang Hong, Magnusson, Patrik K. E., Sanchez, Nick, Stahl, Eli A., Williams, Stephanie, Wray, Naomi R., Xia, Kai, Bettella, Francesco, Borglum, Anders D., Bulik-Sullivan, Brendan K., Cormican, Paul, Craddock, Nick, de Leeuw, Christiaan, Durmishi, Naser, Gill, Michael, Golimbet, Vera, Hamshere, Marian L., Holmans, Peter ... Brown, Matthew A (2013). Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nature Genetics, 45 (10), 1150-U282. doi: 10.1038/ng.2742
Westra, Harm-Jan, Peters, Marjolein J., Esko, Tonu, Yaghootkar, Hanieh, Schurmann, Claudia, Kettunen, Johannes, Christiansen, Mark W., Fairfax, Benjamin P., Schramm, Katharina, Powell, Joseph E., Zhernakova, Alexandra, Zhernakova, Daria V., Veldink, Jan H., Van den Berg, Leonard H., Karjalainen, Juha, Withoff, Sebo, Uitterlinden, Andre G., Hofman, Albert, Rivadeneira, Fernando, Hoen, Peter A. C't, Reinmaa, Eva, Fischer, Krista, Nelis, Mari, Milani, Lili, Melzer, David, Ferrucci, Luigi, Singleton, Andrew B., Hernandez, Dena G., Nalls, Michael A. ... Franke, Lude (2013). Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature Genetics, 45 (10), 1238-U195. doi: 10.1038/ng.2756
Powell, Joseph E., Henders, Anjali K., McRae, Allan F., Kim, Jinhee, Hemani, Gibran, Martin, Nicholas G., Dermitzakis, Emmanouil T., Gibson, Greg, Montgomery, Grant W. and Visscher, Peter M. (2013). Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data. PLoS Genetics, 9 (5) e1003502, e1003502.1-e1003502.10. doi: 10.1371/journal.pgen.1003502
Goldinger, Anita, Henders, Anjali K., McRae, Allan F., Martin, Nicholas G., Gibson, Greg, Montgomery, Grant W., Visscher, Peter M. and Powell, Joseph E. (2013). Genetic and nongenetic variation revealed for the principal components of human gene expression. Genetics, 195 (3), 1117-1128. doi: 10.1534/genetics.113.153221
Luong, Hien T. T., Painter, Jodie N., Shakhbazov, Konstantin, Chapman, Brett, Henders, Anjali K., Powell, Joseph E, Nyholt, Dale R. and Montgomery, Grant W. (2013). Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36. International Journal of Molecular Epidemiology and Genetics, 4 (4), 193-206.
Parnell, Grant P., Gatt, Prudence N., McKay, Fiona C., Schibeci, Stephen, Krupa, Malgorzata, Powell, Joseph E., Visscher, Peter M., Montgomery, Grant W., Lechner-Scott, Jeannette, Broadley, Simon, Liddle, Christopher, Slee, Mark, Vucic, Steve, Stewart, Graeme J. and Booth, David R. (2013). Ribosomal protein S6 mRNA is a biomarker upregulated in multiple sclerosis, downregulated by interferon treatment, and affected by season. Multiple Sclerosis, 20 (6), 675-685. doi: 10.1177/1352458513507819
Yang, Jian, Loos, Ruth J., Powell, Joseph E., Medland, Sarah E, Speliotes, Elizabeth K., Chasman, Daniel I., Rose, Lynda M., Thorleifsson, Gudmar, Steinthorsdottir, Valgerdur, Magi, Reedik, Waite, Lindsay, Vernon Smith, Albert, Yerges-Armstrong, Laura M., Monda, Keri L., Hadley, David, Mahajan, Anubha, Li, Guo, Kapur, Karen, Vitart, Veronique, Huffman, Jennifer E., Wang, Sophie R., Palmer, Cameron, Esko, To˜nu, Fischer, Krista, Hua Zhao, Jing, Demirkan, Ayse, Isaacs, Aaron, Feitosa, Mary F., Luan, Jian’an ... Visscher, Peter (2012). FTO genotype is associated with phenotypic variability of body mass index. Nature, 490 (7419), 267-272. doi: 10.1038/nature11401
Gordon, Lavinia, Joo, Jihoon E., Powell, Joseph E., Ollikainen, Miina, Novakovic, Boris, Li, Xin, Andronikos, Roberta, Cruickshank, Mark N., Conneely, Karen N., Smith, Alicia K., Alisch, Reid S., Morley, Ruth, Visscher, Peter M., Craig, Jeffrey M. and Saffery, Richard (2012). Neonatal DNA methylation profile in human twins is specified by a complex interplay between intrauterine environmental and genetic factors, subject to tissue-specific influence. Genome Research, 22 (8), 1395-1406. doi: 10.1101/gr.136598.111
Powell, J. E., Kranis, A., Floyd, J., Dekkers, J. C. M., Knott, S. and Haley, C. S. (2012). Optimal use of regression models in genome-wide association studies. Animal Genetics, 43 (2), 133-143. doi: 10.1111/j.1365-2052.2011.02234.x
Powell, Joseph E., Henders, Anjali K., McRae, Allan F., Caracella, Anthony, Smith, Sara, Wright, Margaret J., Whitfield, John B., Dermitzakis, Emmanouil T., Martin, Nicholas G., Visscher, Peter M. and Montgomery, Grant W. (2012). The Brisbane systems genetics study: genetical genomics meets complex trait genetics. PLoS One, 7 (4) e35430, e35430.1-e35430.9. doi: 10.1371/journal.pone.0035430
Powell, Joseph E., Henders, Anjali K., McRae, Allan F., Wright, Margaret J., Martin, Nicholas G., Dermitzakis, Emmanouil T., Montgomery, Grant W. and Visscher, Peter M. (2012). Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. Genome Research, 22 (3), 456-466. doi: 10.1101/gr.126540.111
Maugeri, Narelle, Powell, Joseph E., 't Hoen, Peter A. C., de Geus, Eco J. C., Willemsen, Gonneke, Kattenberg, Mathijs, Henders, Anjali K., Wallace, Leanne, Penninx, Brenda, Hottenga, Jouke-Jan, Medland, Sarah E., Saviouk, Viatcheslav, Martin, Nicholas G., Visscher, Peter M., van Ommen, Gert-Jan B., Frazer, Ian H., Boomsma, Dorret I., Montgomery, Grant W. and Ferreira, Manuel A. R (2011). LPAR1 and ITGA4 Regulate Peripheral Blood Monocyte Counts. Human Mutation, 32 (8), 873-876. doi: 10.1002/humu.21536
McEvoy, Brian P., Powell, Joseph E., Goddard, Michael E. and Visscher, Peter M. (2011). Human population dispersal "Out of Africa" estimated from linkage disequilibrium and allele frequencies of SNPs. Genome Research, 21 (6), 821-829. doi: 10.1101/gr.119636.110
Powell, Joseph E., Visscher, Peter M. and Goddard, Michael E. (2010). Reconciling the analysis of IBD and IBS in complex trait studies. Nature Reviews Genetics, 11 (11), 800-805. doi: 10.1038/nrg2865
Conference Papers
Nguyen, Quan H., Lukowski, Samuel W., Chiu, Han S., Friedman, Clayton E., Senabouth, Anne, Crowhurst, Liam, Bruxner, Timothy J. C., Christ, Angelika N., Hudson, James, Ding, Jun, Bar-Joseph, Ziv, Tam, Patrick P. L., Palpant, Nathan J. and Powell, Joseph E. (2018). Genetic networks modulating cell fate specification and contributing to cardiac disease risk in hiPSC-derived cardiomyocytes at single cell resolution. Human Genome Meeting 2018, Yokohama, Japan, 12-15 March 2018. London, United Kingdom: Henry Stewart Publications LLP. doi: 10.1186/s40246-018-0138-6
Zeng, Jian, de Vlaming, Ronald, Wu, Yang, Robinson, Matthew R., Lloyd-Jones, Luke R., Yengo, Loic, Yap, Chloe X., Xue, Angli, Sidorenko, Julia, Mcrae, Allan F., Powell, Joseph E., Montgomery, Grant W., Metspalu, Andres, Esko, Tonu, Gibson, Greg, Wray, Naomi R., Visscher, Peter M. and Yang, Jian (2018). Signatures of negative selection in the genetic architecture of human complex traits. 48th Annual Meeting of the Behavior-Genetics-Association (BGA), Boston MA, United States, 20-23 June 2018. New York, NY United States: Springer New York.
McKay, Fiona, Gatt, Prudence N., Fewings, Nicole, Schibeci, Stephen D., Parnell, Grant, Basuki, Monica A. I., Powell, Joseph E., Goldinger, Anita, Fabis-Pedrini, Marzena J., Kermode, Allan G., Burke, Therese, Vucic, Steve, Stewart, Graeme J. and Booth, David R. (2015). Characterising the Molecular Phenotypes of MS: heredity, gene expression modules, dysregulated immune cell subsets and response to therapy. MS Research Australia Progress in MS Research Conference, Melbourne, VIC, Australia, 29-30 October 2015. London, United Kingdom: Sage Publications. doi: 10.1177/1352458515616527
Ebejer, Jane, Medland, Sarah, Martin, Nick G., Wright, Margaret, Montgomery, Grant, Powell, Joseph, Visscher, Peter and Duffy, David (2013). Clarification of varying genetic expression and structure within adolescent monozygotic and dizygotic twins discordant for high and low attention and activity. 43rd Annual Meeting of the Behavior-Genetics-Association, Marseille France, 28 June-02 July 2013. New York, NY United States: Springer New York LLC. doi: 10.1007/s10519-013-9623-9
Medland, Sarah, Verweij, Karin and Powell, Joseph (2012). Using openMx for GWAS. 42nd Annual Meeting of the Behavior Genetics Association, Edinburgh Scotland, 22-25 June 2012. New York, NY United States: Springer New York LLC.