Dr Joseph Powell
Honorary Associate Professor
Institute for Molecular Bioscience
Journal Articles
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
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. doi:10.1038/s41598-018-29462-y
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, . doi:10.1016/j.jid.2018.06.169
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 1-9. 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. doi:10.3390/genes9010053
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: . doi:10.1038/s41467-017-00473-z
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
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
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
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
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., Hirschhorn, Joel N., Hottenga, Jouke Jan, Ingelsson, Erik, Loos, Ruth J. F., Magnusson, Patrik K. E., Martin, Nicholas G., Montgomery, Grant W., North, Kari E., Pedersen, Nancy L., Spector, Timothy D., Speliotes, Elizabeth K., Goddard, Michael E., Yang, Jian and 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
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, Kiemeney, Lambertus A., Sweep, Fred C., Sala, Cinzia F., Schwienbacher, Christine, Pichler, Irene, Hui, Jennie, Demirkan, Ayse, Isaacs, Aaron, Amin, Najaf, Steri, Maristella, Waeber, Gerard, Verweij, Niek, Powell, Joseph E., Nyholt, Dale R., Heath, Andrew C., Madden, Pamela A. F., Visscher, Peter M., Wright, Margaret J., Montgomery, Grant W., Martin, Nicholas G., Hernandez, Dena, Bandinelli, Stefania, van der Harst, Pim, Uda, Manuela, Vollenweider, Peter, Scott, Robert A., Langenberg, Claudia, Wareham, Nicholas J., van Duijn, Cornelia, Beilby, John, Pramstaller, Peter P., Hicks, Andrew A., Ouwehand, Willem H., Oexle, Konrad, Gieger, Christian, Metspalu, Andres, Camaschella, Clara, Toniolo, Daniela, Swinkels, Dorine W. and Whitfield, John B. (2014) Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nature Communications, 5 1: 4926.1-4926.10. doi:10.1038/ncomms5926
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: 1-11. doi:10.1186/1755-8794-7-31
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
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., Homuth, Georg, Nauck, Matthias, Radke, Doerte, Voelker, Uwe, Perola, Markus, Salomaa, Veikko, Brody, Jennifer, Suchy-Dicey, Astrid, Gharib, Sina A., Enquobahrie, Daniel A., Lumley, Thomas, Montgomery, Grant W., Makino, Seiko, Prokisch, Holger, Herder, Christian, Roden, Michael, Grallert, Harald, Meitinger, Thomas, Strauch, Konstantin, Li, Yang, Jansen, Ritsert C., Visscher, Peter M., Knight, Julian C., Psaty, Bruce M., Ripatti, Samuli, Teumer, Alexander, Frayling, Timothy M., Metspalu, Andres, van Meurs, Joyce B. J. and 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
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
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
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, 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
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. In: Human Genome Meeting 2018, Yokohama, Japan, (30-31). 12-15 March 2018. doi:10.1186/s40246-018-0138-6
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. In: MS Research Australia Progress in MS Research Conference, Melbourne, VIC, Australia, (NP3-NP4). 29-30 October 2015. doi:10.1177/1352458515616527
Medland, Sarah, Verweij, Karin and Powell, Joseph (2012). Using openMx for GWAS. In: Behavior Genetics Association 42nd Annual Meeting Abstracts. 42nd Annual Meeting of the Behavior Genetics Association, Edinburgh Scotland, (952-952). 22-25 June 2012.