Dr Fleur Garton
NHMRC Early Career Fellow
Institute for Molecular Bioscience
Researcher biography
Fleur Garton is a researcher focused on improving outcomes for those with a neurological disease. She completed a Bachelor of Applied Science (Hons I) in 2008 at the University of Sydney. Pursing an interest in the molecular basis of skeletal muscle function she completed her honours and PhD at the Institute of Neuroscience and Muscle research at the Children's Hospital Westmead. Fleur spent two-years as post-doctoral researcher at the Murdoch Childrens Research Institute, Melbourne. She was responsible for modelling the effect of gene dosage using rAAV vectors while helping to contribute to studies on human performance and health. In 2016, Fleur moved to work with Professor Naomi Wray at the Program in Complex Trait Genomics team at the University of Queensland. She was awarded a Bill Gole MND Postdoctoral fellowship from MNDRA in 2016, an NHMRC Early Career Researcher Fellowship (2017-2022) and is now the Scott Sullivan MND Research Fellow (2022). Her research program aims to further understand the genetic mechanisms of motor neurone disease (MND/ALS) using novel genomics analyses. This includes investigations into the use of cell-free DNA and other 'omic data to improve diagnosis and treatment. Fleur currently has research projects running at the Royal Brisbane Womens Hospital and the Mater Hospital together with local and international collaborators. Any potential participants or collaborators are encouraged to contact her on email about these projects.
Book Chapter
Seto, Jane T., Garton, Fleur C., North, Kathryn N. and Houweling, Peter J. (2019). Αlpha- actinin- 3’s role in the genetic control of muscle strength and performance. Routledge Handbook of Sport and Exercise Systems Genetics. (pp. 323-344) edited by J. Timothy Lightfoot, Monica J. Hubal and Stephen M. Roth. Abingdon, Oxon, United Kingdom: Taylor and Francis. doi: 10.4324/9781315146287-23
Journal Articles
Wang, Guan, Fuku, Noriyuki, Miyamoto-Mikami, Eri, Tanaka, Masashi, Miyachi, Motohiko, Murakami, Haruka, Mitchell, Braxton D., Morrison, Errol, Ahmetov, Ildus, Group, Sportgene Research, Generozov, Edward, Filipenko, Maxim L., Gilep, Andrei A., Gineviciene, Valentina, Moran, Colin N., Venckunas, Tomas, Cieszczyk, Pawel, Derave, Wim, Papadimitriou, Ioannis, Garton, Fleur C., Padmanabhan, Sandosh and Pitsiladis, Yannis P. (2025). Multi-phase, multi-ethnic GWAS uncovers putative loci
in predisposition to elite sprint and power performance, health
and disease. Biology of Sport, 42 (3), 141-159. doi: 10.5114/biolsport.2025.147015
Katz, Matthew, Waddell, Leigh B., Yuen, Michaela, Bryen, Samantha J., Oates, Emily, Garton, Fleur C., Robertson, Thomas, Henderson, Robert David, Cooper, Sandra T. and McCombe, Pamela A. (2023). Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant. Frontiers in Neurology, 14 1055639, 1055639. doi: 10.3389/fneur.2023.1055639
Katz, Matthew, Garton, Fleur C., Davis, Mark, Henderson, Robert D. and McCombe, Pamela A. (2022). Novel variants of ANO5 in two patients with limb girdle muscular dystrophy: Case Report. Frontiers in Neurology, 13 868655, 868655. doi: 10.3389/fneur.2022.868655
Hop, Paul J., Zwamborn, Ramona A.J., Hannon, Eilis, Shireby, Gemma L., Nabais, Marta F., Walker, Emma M., van Rheenen, Wouter, van Vugt, Joke J.F.A., Dekker, Annelot M., Westeneng, Henk-Jan, Tazelaar, Gijs H.P., van Eijk, Kristel R., Moisse, Matthieu, Baird, Denis, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Ticozzi, Nicola, Ratti, Antonia, Cooper-Knock, Jonathan, Morrison, Karen E., Shaw, Pamela J., Basak, A. Nazli, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Grassano, Maurizio, Gotkine, Marc ... Brain MEND Consortium (2022). Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine, 14 (633) eabj0264, 1-15. doi: 10.1126/scitranslmed.abj0264
Restuadi, Restuadi, Steyn, Frederik J., Kabashi, Edor, Ngo, Shyuan T., Cheng, Fei-Fei, Nabais, Marta F., Thompson, Mike J., Qi, Ting, Wu, Yang, Henders, Anjali K., Wallace, Leanne, Bye, Chris R., Turner, Bradley J., Ziser, Laura, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Schultz, David, Kiernan, Matthew C., van Rheenen, Wouter, van den Berg, Leonard H., Veldink, Jan H., Ophoff, Roel, Gusev, Alexander, Zaitlen, Noah, McRae, Allan F., Henderson, Robert D., Wray, Naomi R., Giacomotto, Jean and Garton, Fleur C. (2022). Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1. Genome Medicine, 14 (1) 7, 7. doi: 10.1186/s13073-021-01006-6
van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola ... SLAP Consortium (2021). Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics, 53 (12), 1636-1648. doi: 10.1038/s41588-021-00973-1
Caggiano, Christa, Celona, Barbara, Garton, Fleur, Mefford, Joel, Black, Brian L., Henderson, Robert, Lomen-Hoerth, Catherine, Dahl, Andrew and Zaitlen, Noah (2021). Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE. Nature Communications, 12 (1) 2717. doi: 10.1038/s41467-021-22901-x
Restuadi, Restuadi, Garton, Fleur C., Benyamin, Beben, Lin, Tian, Williams, Kelly L., Vinkhuyzen, Anna, van Rheenen, Wouter, Zhu, Zhihong, Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Visscher, Peter M., Needham, Merrilee, Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Blair, Ian P., Wray, Naomi R. and McRae, Allan F. (2021). Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia. European Journal of Human Genetics, 30 (5), 1-8. doi: 10.1038/s41431-021-00885-y
Nabais, Marta F., Laws, Simon M., Lin, Tian, Vallerga, Costanza L., Armstrong, Nicola J., Blair, Ian P., Kwok, John B., Mather, Karen A., Mellick, George D., Sachdev, Perminder S., Wallace, Leanne, Henders, Anjali K., Zwamborn, Ramona A. J., Hop, Paul J., Lunnon, Katie, Pishva, Ehsan, Roubroeks, Janou A. Y., Soininen, Hilkka, Tsolaki, Magda, Mecocci, Patrizia, Lovestone, Simon, Kloszewska, Iwona, Vellas, Bruno, Furlong, Sarah, Garton, Fleur C., Henderson, Robert D., Mathers, Susan, McCombe, Pamela A., Needham, Merrilee ... McRae, Allan F. (2021). Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. Genome Biology, 22 (1) 90, 1-30. doi: 10.1186/s13059-021-02275-5
Iacoangeli, Alfredo, Lin, Tian, Al Khleifat, Ahmad, Jones, Ashley R., Opie-Martin, Sarah, Coleman, Jonathan R.I., Shatunov, Aleksey, Sproviero, William, Williams, Kelly L., Garton, Fleur, Restuadi, Restuadi, Henders, Anjali K., Mather, Karen A., Needham, Merilee, Mathers, Susan, Nicholson, Garth A., Rowe, Dominic B., Henderson, Robert, McCombe, Pamela A., Pamphlett, Roger, Blair, Ian P., Schultz, David, Sachdev, Perminder S., Newhouse, Stephen J., Proitsi, Petroula, Fogh, Isabella, Ngo, Shyuan T., Dobson, Richard J.B., Wray, Naomi R. ... Al-Chalabi, Ammar (2020). Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics. Cell Reports, 33 (4) 108323, 1-9. doi: 10.1016/j.celrep.2020.108323
Garton, Fleur C., Trabjerg, Betina B., Wray, Naomi R. and Agerbo, Esben (2020). Cardiovascular disease, psychiatric diagnosis and sex‐differences in the multi‐step hypothesis of ALS. European Journal of Neurology, 28 (2) ene.14554, 421-429. doi: 10.1111/ene.14554
Steyn, Frederik J., Li, Rui, Kirk, Siobhan E., Tefera, Tesfaye W, Xie, Teresa Y., Tracey, Timothy J., Kelk, Dean, Wimberger, Elyse, Garton, Fleur C., Roberts, Llion, Chapman, Sarah E., Coombes, Jeff S., Leevy, W. Matthew, Ferri, Alberto, Valle, Cristiana, René, Frédérique, Loeffler, Jean-Philippe, McCombe, Pamela A., Henderson, Robert D. and Ngo, Shyuan T. (2020). Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis. Brain Communications, 2 (2) fcaa154, fcaa154. doi: 10.1093/braincomms/fcaa154
McCombe, Pamela A., Garton, Fleur C., Katz, Matthew, Wray, Naomi R. and Henderson, Robert D. (2020). What do we know about the variability in survival of patients with amyotrophic lateral sclerosis?. Expert Review of Neurotherapeutics, 20 (9), 921-941. doi: 10.1080/14737175.2020.1785873
Katz, Matthew, Davis, Mark, Garton, Fleur C., Henderson, Robert, Bharti, Vanda, Wray, Naomi and McCombe, Pamela (2020). Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: a case series. Journal of the Neurological Sciences, 413 116809, 116809. doi: 10.1016/j.jns.2020.116809
Nabais, Marta F., Lin, Tian, Benyamin, Beben, Williams, Kelly L., Garton, Fleur C., Vinkhuyzen, Anna A. E., Zhang, Futao, Vallerga, Costanza L., Restuadi, Restuadi, Freydenzon, Anna, Zwamborn, Ramona A. J., Hop, Paul J., Robinson, Matthew R., Gratten, Jacob, Visscher, Peter M., Hannon, Eilis, Mill, Jonathan, Brown, Matthew A., Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Needham, Merrilee, Veldink, Jan H., Mathers, Susan, Nicholson, Garth ... Wray, Naomi R. (2020). Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis. npj Genomic Medicine, 5 (1) 10, 1-9. doi: 10.1038/s41525-020-0118-3
Trabjerg, Betina B., Garton, Fleur C., van Rheenen, Wouter, Fang, Fang, Henderson, Robert D., Mortensen, Preben Bo, Agerbo, Esben and Wray, Naomi R. (2020). ALS in Danish Registries : Heritability and links to psychiatric and cardiovascular disorders. Neurology Genetics, 6 (2) e398, e398. doi: 10.1212/nxg.0000000000000398
Ngo, Shyuan T., Restuadi, Restuadi, McCrea, Allan F., Van Eijk, Ruben P., Garton, Fleur, Henderson, Robert D., Wray, Naomi R., McCombe, Pamela A. and Steyn, Frederik J. (2020). Progression and survival of patients with motor neuron disease relative to their fecal microbiota. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21 (7-8), 1-14. doi: 10.1080/21678421.2020.1772825
Garton, Fleur C., Houweling, Peter J., Vukcevic, Damjan, Meehan, Lyra R., Lee, Fiona X.Z., Lek, Monkol, Roeszler, Kelly N., Hogarth, Marshall W., Tiong, Chrystal F., Zannino, Diana, Yang, Nan, Leslie, Stephen, Gregorevic, Paul, Head, Stewart I., Seto, Jane T. and North, Kathryn N. (2018). The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance. American Journal of Human Genetics, 102 (5), 845-857. doi: 10.1016/j.ajhg.2018.03.009
Henderson, Robert D., Garton, Fleur C., Kiernan, Matthew C., Turner, Martin R. and Eisen, Andrew (2018). Human cerebral evolution and the clinical syndrome of amyotrophic lateral sclerosis. JNNP Online, 90 (5), jnnp-2017. doi: 10.1136/jnnp-2017-317245
Papadimitriou, Ioannis D., Lockey, Sarah J., Voisin, Sarah, Herbert, Adam J., Garton, Fleur, Houweling, Peter J., Cieszczyk, Pawel, Maciejewska-Skrendo, Agnieszka, Sawczuk, Marek, Massidda, Myosotis, Calò, Carla Maria, Astratenkova, Irina V., Kouvatsi, Anastasia, Druzhevskaya, Anastasiya M., Jacques, Macsue, Ahmetov, Ildus I., Stebbings, Georgina K., Heffernan, Shane, Day, Stephen H., Erskine, Robert, Pedlar, Charles, Kipps, Courtney, North, Kathryn N., Williams, Alun G. and Eynon, Nir (2018). No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes. BMC Genomics, 19 (1) 13, 1-9. doi: 10.1186/s12864-017-4412-0
Gratten, 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
Benyamin, 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
Willems, 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
Garton, 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
Papadimitriou, 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
Pitsiladis, 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
Hogarth, 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
Garton, 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
Garton, 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
Rankinen, 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
Webborn, 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
Garton, 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
Sullivan, 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
Seto, 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
Eynon, 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
Seto, 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
Pistilli, 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
Garton, 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
Yang, Nan, Garton, Fleur and North, Kathryn (2009). α-actinin-3 and performance. Medicine and Sport Science, 54, 88-101. doi: 10.1159/000235698
Conference Papers
Caggiano, Christa, Morselli, Marco, Celona, Barbara, Henderson, Robert, Lomen-Hoerth, Catherine, Garton, Fleur, Pellegrini, Matteo and Zaitlen, Noah (2023). Non-invasive biomarker discovery in amyotrophic lateral sclerosis. 55th European Society of Human Genetics (ESHG) Conference, Vienna, Austria, 11-14 June 2022. London, United Kingdom: Nature Publishing Group. doi: 10.1038/s41431-023-01338-4
Caggiano, Christa, Celona, Barbara, Garton, Fleur, Mefford, Joel, Black, Brian, Lomen-Hoerth, Catherine, Dahl, Andrew and Zaitlen, Noah (2020). Estimating the rate of cell type degeneration from epigenetic sequencing of cell-free dna. International Conference on Research in Computational Molecular Biology, Padua, Italy, 10-13 May 2020. Heidelberg, Germany: Springer. doi: 10.1007/978-3-030-45257-5_21
Houweling, P., Seto, J., Garton, F., Quinlan, K., Head, S. and North, K. (2015). A gene for speed: the influence of ACTN3 on muscle performance in health and disease. 20th International Congress of the World Muscle Society, Brighton, United Kingdom, 30 September-4 October 2015. London, United Kingdom: Elsevier. doi: 10.1016/j.nmd.2015.06.011