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2017 Journal Article Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in ChineseGratten, Jacob, Zhao, Qiongyi, Benyamin, Beben, Garton, Fleur, He, Ji, Leo, Paul J., Mangelsdorf, Marie, Anderson, Lisa, Zhang, Zong-Hong, Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Edson, Janette, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jin, Zi-Bing, Li, Zhongshan, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, Mowry, Bryan J., Ran, Shu, Reutens, David C., Song, Sharon, Tan, Li-Jun, Tang, Lu, Wallace, Robyn H. ... Fan, Dongsheng (2017). Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese. Genome Medicine, 9 (97) 97, 97. doi: 10.1186/s13073-017-0487-0 |
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2017 Journal Article Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosisBenyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu ... Fan, Dongsheng (2017). Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nature Communications, 8 (1) 611, 611. doi: 10.1038/s41467-017-00471-1 |
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2017 Journal Article Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitnessWillems, Sara M., Wright, Daniel J., Day, Felix R., Trajanoska, Katerina, Joshi, Peter K., Morris, John A., Matteini, Amy M., Garton, Fleur C., Grarup, Niels, Oskolkov, Nikolay, Thalamuthu, Anbupalam, Mangino, Massimo, Liu, Jun, Demirkan, Ayse, Lek, Monkol, Xu, Liwen, Wang, Guan, Oldmeadow, Christopher, Gaulton, Kyle J., Lotta, Luca A., Miyamoto-Mikami, Eri, Rivas, Manuel A., White, Tom, Loh, Po-Ru, Aadahl, Mette, Amin, Najaf, Attia, John R., Austin, Krista, Benyamin, Beben ... Ohlsson, Claes (2017). Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nature Communications, 8 (1) 16015, 16015. doi: 10.1038/ncomms16015 |
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2017 Journal Article Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohortGarton, Fleur C., Benyamin, Beben, Zhao, Qiongyi, Liu, Zhijun, Gratten, Jacob, Henders, Anjali K., Zhang, Zong-Hong, Edson, Janette, Furlong, Sarah, Morgan, Sarah, Heggie, Susan, Thorpe, Kathryn, Pfluger, Casey, Mather, Karen A., Sachdev, Perminder S., McRae, Allan F., Robinson, Matthew R., Shah, Sonia, Visscher, Peter M., Mangelsdorf, Marie, Henderson, Robert D., Wray, Naomi R. and McCombe, Pamela A. (2017). Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. Molecular Genetics and Genomic Medicine, 5 (4), 418-428. doi: 10.1002/mgg3.302 |
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2016 Journal Article ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort studyPapadimitriou, Ioannis D., Lucia, Alejandro, Pitsiladis, Yannis P., Pushkarev, Vladimir P., Dyatlov, Dmitry A., Orekhov, Evgeniy F., Artioli, Guilherme G., Guilherme, João Paulo L.F., Lancha, Antonio H., Ginevičiene, Valentina, Cieszczyk, Pawel, Maciejewska-Karlowska, Agnieszka, Sawczuk, Marek, Muniesa, Carlos A., Kouvatsi, Anastasia, Massidda, Myosotis, Calò, Carla Maria, Garton, Fleur, Houweling, Peter J., Wang, Guan, Austin, Krista, Druzhevskaya, Anastasiya M., Astratenkova, Irina V., Ahmetov, Ildus I., Bishop, David J., North, Kathryn N. and Eynon, Nir (2016). ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics, 17 (1) 285. doi: 10.1186/s12864-016-2462-3 |
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2016 Journal Article Athlome project consortium: a concerted effort to discover genomic and other "omic" markers of athletic performancePitsiladis, Yannis P., Tanaka, Masashi, Eynon, Nir, Bouchard, Claude, North, Kathryn N., Williams, Alun G., Collins, Malcolm, Moran, Colin N., Britton, Steven L., Fuku, Noriyuki, Ashley, Euan A., Klissouras, Vassilis, Lucia, Alejandro, Ahmetov, Ildus I., De Geus, Eco, Alsayrafi, Mohammed, Webborn, Nick, Wang, Guan, Bishop, David J., Papadimitriou, Ioannis, Yan, Xu, Tirosh, Oren, Kuang, Jujiao, Rankinen, Tuomo, Sarzinsky, Mark, Mikael Mattsson, C., Wheeler, Matthew, Waggott, Daryl, Byrne, Nuala M. ... Pushkarev, Vladimir P. (2016). Athlome project consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance. Physiological Genomics, 48 (3), 183-190. doi: 10.1152/physiolgenomics.00105.2015 |
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2016 Journal Article The effect of heterozygosity for the ACTN3 null allele on human muscle performanceGarton, Fleur C. and North, Kathryn N. (2016). The effect of heterozygosity for the ACTN3 null allele on human muscle performance. Medicine and Science in Sports and Exercise, 48 (3), 509-520. doi: 10.1249/MSS.0000000000000784 |
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2016 Journal Article Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionHogarth, Marshall W., Garton, Fleur C., Houweling, Peter J., Tukiainen, Taru, Lek, Monkol, Macarthur, Daniel G., Seto, Jane T., Quinlan, Kate G.R., Yang, Nan, Head, Stewart I. and North, Kathryn N. (2016). Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion. Human Molecular Genetics, 25 (5), 866-877. doi: 10.1093/hmg/ddv613 |
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2016 Journal Article Rodent models for resolving extremes of exercise and healthGarton, Fleur C., North, Kathryn N., Koch, Lauren G., Britton, Steven L., Nogales-Gadea, Gisela and Lucia, Alejandro (2016). Rodent models for resolving extremes of exercise and health. Physiological Genomics, 48 (2), 82-92. doi: 10.1152/physiolgenomics.00077.2015 |
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2016 Journal Article No evidence of a common DNA variant profile specific to world class endurance athletesRankinen, Tuomo, Fuku, Noriyuki, Wolfarth, Bernd, Wang, Guan, Sarzynski, Mark A., Alexeev, Dmitry G., Ahmetov, Ildus I., Boulay, Marcel R., Cieszczyk, Pawel, Eynon, Nir, Filipenko, Maxim L., Garton, Fleur C., Generozov, Edward V., Govorun, Vadim M., Houweling, Peter J., Kawahara, Takashi, Kostryukova, Elena S., Kulemin, Nickolay A., Larin, Andrey K., Maciejewska-Karlowska, Agnieszka, Miyachi, Motohiko, Muniesa, Carlos A., Murakami, Haruka, Ospanova, Elena A., Padmanabhan, Sandosh, Pavlenko, Alexander V., Pyankova, Olga N., Santiago, Catalina, Sawczuk, Marek ... Bouchard, Claude (2016). No evidence of a common DNA variant profile specific to world class endurance athletes. PLoS ONE, 11 (1) e0147330, e0147330. doi: 10.1371/journal.pone.0147330 |
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2015 Journal Article Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statementWebborn, Nick, Williams, Alun, McNamee, Mike, Bouchard, Claude, Pitsiladis, Yannis, Ahmetov, Ildus, Ashley, Euan, Byrne, Nuala, Camporesi, Silvia, Collins, Malcolm, Dijkstra, Paul, Eynon, Nir, Fuku, Noriyuki, Garton, Fleur C., Hoppe, Nils, Holm, Søren, Kaye, Jane, Klissouras, Vassilis, Lucia, Alejandro, Maase, Kamiel, Moran, Colin, North, Kathryn N., Pigozzi, Fabio and Wang, Guan (2015). Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement. British Journal of Sports Medicine, 49 (23), 1486-1491. doi: 10.1136/bjsports-2015-095343 |
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2014 Journal Article α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilizationGarton, F. C., Seto, J. T., Quinlan, K. G. R., Yang, N., Houweling, P. J. and North, K. N. (2014). α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization. Human Molecular Genetics, 23 (7), 1879-1893. doi: 10.1093/hmg/ddt580 |
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2014 Journal Article NF1 is a critical regulator of muscle development and metabolismSullivan, Kate, El-hoss, Jad, Quinlan, Kate G.R., Deo, Nikita, Garton, Fleur, Seto, Jane T.C., Gdalevitch, Marie, Turner, Nigel, Cooney, Gregory J., Kolanczyk, Mateusz, North, Kathryn N., Little, David G. and Schindeler, Aaron (2014). NF1 is a critical regulator of muscle development and metabolism. Human Molecular Genetics, 23 (5) ddt515, 1250-1259. doi: 10.1093/hmg/ddt515 |
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2013 Journal Article ACTN3 genotype infuences muscle performance through the regulation of calcineurin signalingSeto, Jane T., Quinlan, Kate G. R., Lek, Monkol, Zheng, Xi Fiona, Garton, Fleur, Macarthur, Daniel G., Hogarth, Marshall W., Houweling, Peter J., Gregorevic, Paul, Turner, Nigel, Cooney, Gregory J., Yang, Nan and North, Kathryn N. (2013). ACTN3 genotype infuences muscle performance through the regulation of calcineurin signaling. Journal of Clinical Investigation, 123 (10), 4255-4263. doi: 10.1172/JCI67691 |
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2013 Journal Article Genes for elite power and sprint performance: ACTN3 leads the wayEynon, Nir, Hanson, Erik D., Lucia, Alejandro, Houweling, Peter J., Garton, Fleur, North, Kathryn N. and Bishop, David J. (2013). Genes for elite power and sprint performance: ACTN3 leads the way. Sports Medicine, 43 (9), 803-817. doi: 10.1007/s40279-013-0059-4 |
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2011 Journal Article Loss of IL-15 receptor alpha alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal musclesPistilli, Emidio E., Bogdanovich, Sasha, Garton, Fleur, Yang, Nan, Gulbin, Jason P., Conner, Jennifer D., Anderson, Barbara G., Quinn, LeBris S., North, Kathryn, Ahima, Rexford S. and Khurana, Tejvir S. (2011). Loss of IL-15 receptor alpha alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles. Journal of Clinical Investigation, 121 (8), 3120-3132. doi: 10.1172/JCI44945 |
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2011 Journal Article Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodelingSeto, Jane T., Lek, Monkol, Quinlan, Kate G.R., Houweling, Peter J., Zheng, Xi F., Garton, Fleur, MacArthur, Daniel G., Raftery, Joanna M., Garvey, Sean M., Hauser, Michael A., Yang, Nan, Head, Stewart I. and North, Kathryn N. (2011). Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Human Molecular Genetics, 20 (15) ddr196, 2914-2927. doi: 10.1093/hmg/ddr196 |
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2010 Journal Article Validation of an automated computational method for skeletal muscle fibre morphometry analysisGarton, Fleur, Seto, Jane T., North, Kathryn N. and Yang, Nan (2010). Validation of an automated computational method for skeletal muscle fibre morphometry analysis. Neuromuscular Disorders, 20 (8), 540-547. doi: 10.1016/j.nmd.2010.06.012 |
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2009 Journal Article α-actinin-3 and performanceYang, Nan, Garton, Fleur and North, Kathryn (2009). α-actinin-3 and performance. Medicine and Sport Science, 54, 88-101. doi: 10.1159/000235698 |
