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Sparrow, Duncan B., McInerney-Leo, Aideen, Gucev, Zoran S., Gardiner, Brooke, Marshall, Mhairi, Leo, Paul J., Chapman, Deborah L., Tasic, Velibor, Shishko, Abduhadi, Brown, Matthew A., Duncan, Emma L. and Dunwoodie, Sally L. (2013) Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Human Molecular Genetics, 22 8: 1625-1631. doi:10.1093/hmg/ddt012 57   7 Cited 8 times in Scopus8 0
Poth, Kim J., Guminski, Alexander D., Thomas, Gethin P., Leo, Paul J., Jabbar, Ibtissam A. and Saunders, Nicholas A. (2010) Cisplatin treatment induces a transient increase in tumorigenic potential associated with high interleukin-6 expression in head and neck squamous cell carcinoma. Molecular Cancer Therapeutics, 9 8: 2430-2439. doi:10.1158/1535-7163.MCT-10-0258 95   15 Cited 14 times in Scopus14 0
Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschke, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stephane, Szabo, Attila J., Tory, Kalman, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hulya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie and Hildebrandt, Friedhelm (2013) Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American Journal of Human Genetics, 93 5: 915-925. doi:10.1016/j.ajhg.2013.09.012 35   11 Cited 9 times in Scopus9 6
Moayyeri, Alireza, Hsu, Yi-Hsiang, Karasik, David, Estrada, Karol, Xiao, Su-Mei, Nielson, Carrie, Srikanth, Priya, Giroux, Sylvie, Wilson, Scott G., Zheng, Hou-Feng, Smith, Albert V., Pye, Stephen R., Leo, Paul J., Teumer, Alexander, Hwang, Joo-Yeon, Ohlsson, Claes, McGuigan, Fiona, Minster, Ryan L., Hayward, Caroline, Olmos, Jose M., Lyytikainen, Leo-Pekka, Lewis, Joshua R., Swart, Karin M. A., Masi, Laura, Oldmeadow, Chris, Holliday, Elizabeth G., Cheng, Sulin, van Schoor, Natasja M., Harvey, Nicholas C., Kruk, Marcin, del Greco M, Fabiola, Igl, Wilmar, Trummer, Olivia, Grigoriou, Efi, Luben, Robert, Liu, Ching-Ti, Zhou, Yanhua, Oei, Ling, Medina-Gomez, Carolina, Zmuda, Joseph, Tranah, Greg, Brown, Suzanne J., Williams, Frances M., Soranzo, Nicole, Jakobsdottir, Johanna, Siggeirsdottir, Kristin, Holliday, Kate L., Hannemann, Anke, Go, Min Jin, Garcia, Melissa, Polasek, Ozren, Laaksonen, Marika, Zhu, Kun, Enneman, Anke W., McEvoy, Mark, Peel, Roseanne, Sham, Pak Chung, Jaworski, Maciej, Johansson, Asa, Hicks, Andrew A., Pludowski, Pawel, Scott, Rodney, Dhonukshe-Rutten, Rosalie A. M., van der Velde, Nathalie V., Kaohonen, Mika, Viikari, Jorma S., Sievaonen, Harri, Raitakari, Olli T., Gonzalez-Macias, Jesus, Hernandez, Jose L., Mellstrom, Dan, Ljunggren, Osten, Cho, Yoon Shin, Volker, Uwe, Nauck, Matthias, Homuth, Georg, Volzke, Henry, Haring, Robin, Brown, Matthew A., McCloskey, Eugene, Nicholson, Geoffrey C., Eastell, Richard, Eisman, John A., Jones, Graeme, Reid, Ian R., Dennison, Elaine M., Wark, John, Boonen, Steven, Vanderschueren, Dirk, Wu, Frederick C. W., Aspelund, Thor, Richards, J. Brent, Bauer, Doug, Hofman, Albert, Khaw, Kay-Tee, Dedoussis, George, Obermayer-Pietsch, Barbara, Gyllensten, Ulf, Pramstaller, Peter P., Lorenc, Roman S., Cooper, Cyrus, Kung, Annie Wai Chee, Lips, Paul, Alen, Markku, Attia, John, Brandi, Maria Luisa, de Groot, Lisette C. P. G. M., Lehtimaki, Terho, Riancho, Jose A., Campbell, Harry, Liu, Yongmei, Harris, Tamara B., Akesson, Kristina, Karlsson, Magnus, Lee, Jong-Young, Wallaschofski, Henri, Duncan, Emma L., O'Neill, Terence W., Gudnason, Vilmundur, Spector, Timothy D., Rousseau, Francois, Orwoll, Eric, Cummings, Steven R., Wareham, Nick J., Rivadeneira, Fernando, Uitterlinden, Andre G., Prince, Richard L., Kiel, Douglas P., Reeve, Jonathan and Kaptoge, Stephen K. (2014) Genetic determinants of heel bone properties: Genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. Human Molecular Genetics, 23 11: 3054-3068. doi:10.1093/hmg/ddt675 27   2 Cited 2 times in Scopus2 1
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., Hadler, Johanna, Henry, Margaret J., Hofman, Albert, Kotowicz, Mark A., Makovey, Joanna, Nguyen, Sing C., Nguyen, Tuan V., Pasco, Julie A., Pryce, Karena, Reid, David M., Rivadeneira, Fernando, Roux, Christian, Stefansson, Kari, Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Tichawangana, Rumbidzai, Evans, David M. and 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: e1001372.1-e1001372.10. doi:10.1371/journal.pgen.1001372 139 27 60 Cited 63 times in Scopus63 0
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, Alen, Markku, Aragaki, Aaron K., Aspelund, Thor, Center, Jacqueline R., Dailiana, Zoe, Duggan, David J ., Garcia, Melissa, Garcia-Giralt, Natàlia, Giroux, Sylvie, Hallmans, Göran, Hocking, Lynne J., Husted, Lise Bjerre, Jameson, Karen A., Khusainova, Rita, Kim, Ghi Su, Kooperberg, Charles, Koromila, Theodora, Kruk, Marcin, Laaksonen, Marika, Lacroix, Andrea Z., Lee, Seung Hun, Leung, Ping C., Lewis, Joshua R ., Masi, Laura, Mencej-Bedrac, Simona, Nguyen, Tuan V., Nogues, Xavier, Patel, Millan S., Prezelj, Janez, Rose, Lynda M., Scollen, Serena, Siggeirsdottir, Kristin, Smith, Albert V., Svensson, Olle, Trompet, Stella, Trummer, Olivia, van Schoor, Natasja M., Woo, Jean, Zhu, Kun, Balcells, Susana, Brandi, Maria Luisa, Buckley, Brendan M., Cheng, Sulin, Christiansen, Claus, Cooper, Cyrus, Dedoussis, George, Ford, Ian, Frost, Morten, Goltzman, David, Gonzalez-Macias, Jesús, Kahonen, Mika, Karlsson, Magnus, Khusnutdinova, Elza, Koh, Jung?Min, Kollia, Panagoula, Langdahl, Bente Lomholt, Leslie, William D., Lips, Paul, Ljunggren, Östen, Lorenc, Roman S., Marc, Janja, Mellstrom, Dan, Obermayer-Pietsch, Barbara, Olmos, José M ., Pettersson-Kymmer, Ulrika, Reid, David M., Riancho, José A., Ridker, Paul M., Rousseau, François, Slagboom, P. Eline, Tang, Nelson L.S., Urreizti, Roser, Van Hul, Wim, Viikari, Jorma, Zarrabeitia, Maria T., Aulchenko, Yurii S., Castano-Betancourt, Martha, Grundberg, Elin, Herrera, Lizbeth, Ingvarsson, Thorvaldur, Johannsdottir, Hrefna, Kwan, Tony, Li, Rui, Luben, Robert, Medina-Gomez, Carolina, Palsson, Stefan Th, Reppe, Sjur, Rotter, Jerome I., Sigurdsson, Gunnar, van Meurs, Joyce B. J., Verlaan, Dominique, Williams, Frances M.K., Wood, Andrew R., Zhou, Yanhua, Gautvik, Kaare M., Pastinen, Tomi, Raychaudhuri, Soumya, Cauley, Jane A., Chasman, Daniel I., Clark, Graeme R., Cummings, Steven R., Danoy, Patrick, Dennison, Elaine M., Eastell, Richard, Eisman, John A., Gudnason, Vilmundur, Hofman, Albert, Jackson, Rebecca D., Jones, Graeme, Jukema, J. Wouter, Khaw, Kay?Tee, Lehtimaki, Terho, Liu, Yongmei, Lorentzon, Mattias, McCloskey, Eugene, Mitchell, Braxton D., Nandakumar, Kannabiran, Nicholson, Geoffrey C., Oostra, Ben A., Peacock, Munro, Pols, Huibert A. P., Prince, Richard L., Raitakari, Olli, Reid, Ian R., Robbins, John, Sambrook, Philip N., Sham, Pak Chung, Shuldiner, Alan R., Tylavsky, Frances A., van Duijn, Cornelia M., Wareham, Nick J., Cupples, L. Adrienne, Econs, Michael J., Evans, David M., Harris, Tamara B., Kung, Annie W. C., Psaty, Bruce M., Reeve, Jonathan, Spector, Timothy D ., Streeten, Elizabeth A., Zillikens, M. Carola, Thorsteinsdottir, Unnur, Ohlsson, Claes, Karasik, David, Richards, J. Brent, Brown, Matthew A., Stefansson, Kari, Uitterlinden, André G., Ralston, Stuart H., Ioannidis, John P. A., Kiel, Douglas P. and 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 289   172 Cited 167 times in Scopus167 9
Zheng, Hou-Feng, Duncan, Emma L., Yerges-Armstrong, Laura M., Eriksson, Joel, Bergström, Ulrica, Leo, Paul J., Leslie, William D., Goltzman, David, Blangero, John, Hanley, David A., Carless, Melanie A., Streeten, Elizabeth A., Lorentzon, Mattias, Brown, Matthew A., Spector, Tim D., Pettersson-Kymmer, Ulrika, Ohlsson, Claes, Mitchell, Braxton D. and Richards, J. Brent (2013) Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm. Journal of Medical Genetics, 50 7: 473-478. doi:10.1136/jmedgenet-2012-101287 42 33 2 Cited 1 times in Scopus1 6
Andreas Zankl, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitche, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terha, Paulien and Brown, Matthew A. (2012) Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics, 90 3: 494-501. doi:10.1016/j.ajhg.2012.01.003 128 11 16 Cited 16 times in Scopus16 5
Zhang, Lei, Li, Jian, Pei, Yu-Fang, Lin, Yong, Shen, Hui, Estrada, Karol, Rivadeneira, Fernando, Guitterlinden, Andre, Shin, Chan Soo, Choi, Hyung Jin, Duncan, Emma L., Leo, Paul J., Brown, Matthew A., Liu, Yao-Zhong, Liu, Yongjun, Zhang, Ji-Gang, Tian, Qing, Wang, Yu-Ping, Zhu, Xue-Zhen, Wu, Shuyan, Papasian, Christopher J. and Deng, Hong-Wen (2012). Multi-stage genome-wide association meta-analyses identified gender-specific loci associated with bone mineral density. In: Abstracts from the NIH Office of Research on Women's Health Ninth Annual Interdisciplinary Women's Health Research Symposium. Ninth Annual NIH Interdisciplinary Women’s Health Research Symposium, Bethesda, MD, United States, (1009-1010). 15 November 2012. doi:10.1089/jwh.2012.ab02 71   0 0
Zhang, Lei, Choi, Hyung Jin, Estrada, Karol, Leo, Paul J., Li, Jian, Pei, Yu-Fang, Zhang, Yinping, Lin, Yong, Shen, Hui, Liu, Yao-Zhong, Liu, Yongjun, Zhao, Yingchun, Zhang, Ji-Gang, Tian, Qing, Wang, Yu-ping, Han, Yingying, Ran, Shu, Hai, Rong, Zhu, Xue-Zhen, Wu, Shuyan, Yan, Han, Liu, Xiaogang, Yang, Tie-Lin, Guo, Yan, Zhang, Feng, Guo, Yan-fang, Chen, Yuan, Chen, Xiangding, Tan, Lijun, Zhang, Lishu, Deng, Fei-Yan, Deng, Hongyi, Rivadeneira, Fernando, Duncan, Emma L., Lee, Jong Young, Han, Bok Ghee, Cho, Nam H., Nicholson, Geoffrey C., McColskey, Eugene, Eastell, Richard, Prince, Richard L., Eisman, John A., Jones, Graeme, Reid, Ian R., Sambrook, Philip N., Dennison, Elaine M., Danoy, Patrick, Yerges-Armstrong, Laura M., Streeten, Elizabeth A., Hu, Tian, Xiang, Shuanglin, Papasian, Christopher J., Brown, Matthew A., Shin, Chan Soo, Uitterlinden, André G. and Deng, Hong-Wen (2014) Multi-stage genome-wide association meta-analyses identified two new loci for bone mineral density. Human Molecular Genetics, 23 7: 1923-1933. doi:10.1093/hmg/ddt575 59   6 Cited 9 times in Scopus9 2
Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D'Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J., Brown, Matthew A., Beales, Philip L., Wicking, Carol, UK10K, Duncan, Emma L. and Mitchison, Hannah M. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93 5: 932-944. doi:10.1016/j.ajhg.2013.10.003 55 1 6 Cited 6 times in Scopus6 2
Peterson, Daniel L., Ward, Bryan C., Rochford, Kent B., Leo, Paul J. and Simer, Greg (2002) Polarization mode dispersion compensator field trial and field fiber characterization. Optics Express, 10 14: 614-621. 73 4 12
Chin, Cheng, Vuletic, Vladan, Kerman, Andrew J., Chu, Steven, Tiesinga, Eite, Leo, Paul J. and Williams, Carl J. (2004) Precision Feshbach spectroscopy of ultracold Cs-2. Physical Review A, 70 3: 032701-1-032701-13. doi:10.1103/PhysRevA.70.032701 59   89 Cited 87 times in Scopus87 0
McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scrambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol and UK10K Consortium (2013) Short-rib polydactyly and Jeune Syndromes are caused by mutations in WDR60. American Journal of Human Genetics, 93 3: 515-523. doi:10.1016/j.ajhg.2013.06.022 59   6 Cited 6 times in Scopus6 4
Cameron, Sarina R., Dahler, Alison L., Endo-Munoz, Liliana B., Jabbar, Ibtissam, Thomas, Gethin P., Leo, Paul J., Poth, Kim, Rickwood, Danny, Guminski, Alexander and Saunders, Nicholas A. (2010) Tumor-initiating activity and tumor morphology of HNSCC is modulated by interactions between clonal variants within the tumor. Laboratory Investigation, 90 11: 1594-1603. doi:10.1038/labinvest.2010.131 67   15 Cited 15 times in Scopus15 0
McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Benn, Diana E., McFarlane, Janelle, Robinson, Bruce G., Brown, Matthew A., Leo, Paul J., Clifton-Bligh, Roderick J. and Duncan, Emma L. (2014) Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. Clinical Endocrinology, 80 1: 25-33. doi:10.1111/cen.12331 36   5 Cited 6 times in Scopus6 0
McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Coucke, Paul J., Van Laer, Lut, Loeys, Bart L., Summers, Kim M., Symoens, Sofie, West, Jennifer A., West, Malcolm J., Wordsworth, B. Paul, Zankl, Andreas, Leo, Paul J., Brown, Matthew A. and Duncan, Emma L. (2013) Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. BoneKEy Reports, 2 456: 1-9. doi:10.1038/bonekey.2013.190 43 2 0
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., Xiao, Yongjun, Timpson, Nicholas J., Smith, George Davey, Reid, Ian R., Ring, Susan M., Sambrook, Philip N., Karlsson, Magnus, Dennison, Elaine M., Kemp, John P., Danoy, Patrick, Sayers, Adrian, Wilson, Scott G., Nethander, Maria, McCloskey, Eugene, Vandenput, Liesbeth, Eastell, Richard, Liu, Jeff, Spector, Tim, Mitchell, Braxton D., Streeten, Elizabeth A., Brommage, Robert, Pettersson-Kymmer, Ulrika, Brown, Matthew A., Ohlsson, Claes, Richards, J. Brent and Lorentzon, Mattias (2012) WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk. Plos Genetics, 8 7: e1002745.1-e1002745.13. doi:10.1371/journal.pgen.1002745 106   26 Cited 26 times in Scopus26 7
Zheng, Hou-Feng, Duncan, Emma, Eriksson, Joel, Bergstrom, Ulrica, Yerges-Armstrong, Laura M., Leo, Paul J., Vandenput, Liesbeth, Nicholson, Geoffrey, Ladouceur, Martin, Prince, Richard L., Leslie, William D., Eisman, John A., Goltzman, David, Jones, Graeme, Xiao, Yongjun, Liu, Jeff, Reid, Lanr, Sambrook, Philip N., Dennison, Elaine M., Danoy, Patrick, Wilson, Scott G., McCloskey, Eugene, Eastell, Richard, Spector, Tim, Mitchell, Braxton D., Streeten, Elizabeth A., Brommage, Robert, Lorentzon, Mattias, Pettersson, Ulrika, Brown, Matthew A., Ohlsson, Claes and Richards, J. Brent (2012). Wnt16 Is associated with bone mineral density, osteoporotic fracture and bone strength: a Large-Scale Meta-Analysis of Genomewide Association Studies. In: Abstracts of the IOF-ECCEO12 European Congress on Osteoporosis and Osteoarthritis and the 2nd IOF-ESCEO Pre-clinical Symposium. IOF-ECCEO European Congress on Osteoporosis and Osteoarthritis / 2nd IOF-ESCEO Pre-Clinical Symposium, Bordeaux France, (S402-S403). 21-24 March 2012. doi:10.1007/s00198-012-1924-y 72   0 0