The University of Queensland

Αlpha- actinin- 3’s role in the genetic control of muscle strength and performance

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

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

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. doi: 10.3389/fneur.2023.1055639

Novel variants of ANO5 in two patients with limb girdle muscular dystrophy: Case Report

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

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

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

Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

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

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

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

Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE

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

Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia

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

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

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

Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics

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

Cardiovascular disease, psychiatric diagnosis and sex‐differences in the multi‐step hypothesis of ALS

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

Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis

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

What do we know about the variability in survival of patients with amyotrophic lateral sclerosis?

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

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

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

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

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

ALS in Danish Registries : Heritability and links to psychiatric and cardiovascular disorders

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

Progression and survival of patients with motor neuron disease relative to their fecal microbiota

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

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

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

Human cerebral evolution and the clinical syndrome of amyotrophic lateral sclerosis

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

No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes

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

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese

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

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

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

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

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

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

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

ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study

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

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

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

Athlome project consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance

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

The effect of heterozygosity for the ACTN3 null allele on human muscle performance

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

Rodent models for resolving extremes of exercise and health

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

No evidence of a common DNA variant profile specific to world class endurance athletes

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

Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement

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

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

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

NF1 is a critical regulator of muscle development and metabolism

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

ACTN3 genotype infuences muscle performance through the regulation of calcineurin signaling

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

Genes for elite power and sprint performance: ACTN3 leads the way

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

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling

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

Loss of IL-15 receptor alpha alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles

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

Validation of an automated computational method for skeletal muscle fibre morphometry analysis

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

α-actinin-3 and performance

Yang, Nan, Garton, Fleur and North, Kathryn (2009). α-actinin-3 and performance. Medicine and Sport Science, 54, 88-101. doi: 10.1159/000235698

Estimating the rate of cell type degeneration from epigenetic sequencing of cell-free dna

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