| Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans DG MacArthur, JT Seto, JM Raftery, KG Quinlan, GA Huttley, JW Hook, ... Nature genetics 39 (10), 1261-1265, 2007 | 400 | 2007 |
| An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance DG MacArthur, JT Seto, S Chan, KGR Quinlan, JM Raftery, N Turner, ... Human molecular genetics 17 (8), 1076-1086, 2008 | 367 | 2008 |
| ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling JT Seto, KGR Quinlan, M Lek, XF Zheng, F Garton, DG MacArthur, ... The Journal of clinical investigation 123 (10), 4255-4263, 2013 | 170 | 2013 |
| Therapeutic approaches to muscular dystrophy A Goyenvalle, JT Seto, KE Davies, J Chamberlain Human molecular genetics 20 (R1), R69-R78, 2011 | 142 | 2011 |
| Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling JT Seto, M Lek, KGR Quinlan, PJ Houweling, XF Zheng, F Garton, ... Human molecular genetics 20 (15), 2914-2927, 2011 | 137 | 2011 |
| α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle KGR Quinlan, JT Seto, N Turner, A Vandebrouck, M Floetenmeyer, ... Human molecular genetics 19 (7), 1335-1346, 2010 | 123 | 2010 |
| Limb–girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis HP Lo, ST Cooper, FJ Evesson, JT Seto, M Chiotis, V Tay, AG Compton, ... Neuromuscular disorders 18 (1), 34-44, 2008 | 121 | 2008 |
| A gene for speed: contractile properties of isolated whole EDL muscle from an α-actinin-3 knockout mouse S Chan, JT Seto, DG MacArthur, N Yang, KN North, SI Head American Journal of Physiology-Cell Physiology 295 (4), C897-C904, 2008 | 120 | 2008 |
| Progress and prospects of gene therapy clinical trials for the muscular dystrophies NE Bengtsson, JT Seto, JK Hall, JS Chamberlain, GL Odom Human molecular genetics 25 (R1), R9-R17, 2016 | 86 | 2016 |
| Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy AG Compton, DE Albrecht, JT Seto, ST Cooper, B Ilkovski, KJ Jones, ... The American Journal of Human Genetics 83 (6), 714-724, 2008 | 86 | 2008 |
| Sport and exercise genomics: the FIMS 2019 consensus statement update K Tanisawa, G Wang, J Seto, I Verdouka, R Twycross-Lewis, ... British journal of sports medicine 54 (16), 969-975, 2020 | 81 | 2020 |
| Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease PJ Houweling, ID Papadimitriou, JT Seto, LM Pérez, JD Coso, KN North, ... Human mutation 39 (12), 1774-1787, 2018 | 79 | 2018 |
| The effect of α-actinin-3 deficiency on muscle aging JT Seto, S Chan, N Turner, DG MacArthur, JM Raftery, YD Berman, ... Experimental gerontology 46 (4), 292-302, 2011 | 68 | 2011 |
| α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse N Yang, A Schindeler, MM McDonald, JT Seto, PJ Houweling, M Lek, ... Bone 49 (4), 790-798, 2011 | 64 | 2011 |
| Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion MW Hogarth, FC Garton, PJ Houweling, T Tukiainen, M Lek, ... Human molecular genetics 25 (5), 866-877, 2016 | 61 | 2016 |
| Animal models of muscular dystrophy R Ng, GB Banks, JK Hall, LA Muir, JN Ramos, J Wicki, GL Odom, ... Progress in molecular biology and translational science 105, 83-111, 2012 | 55 | 2012 |
| NF1 is a critical regulator of muscle development and metabolism K Sullivan, J El-Hoss, KGR Quinlan, N Deo, F Garton, JTC Seto, ... Human molecular genetics 23 (5), 1250-1259, 2014 | 54 | 2014 |
| Therapy of genetic disorders: novel therapies for Duchenne muscular dystrophy JT Seto, NE Bengtsson, JS Chamberlain Current pediatrics reports 2, 102-112, 2014 | 51 | 2014 |
| Gene replacement therapies for duchenne muscular dystrophy using adeno-associated viral vectors J T. Seto, J N. Ramos, L Muir, J S. Chamberlain, G L. Odom Current gene therapy 12 (3), 139-151, 2012 | 46 | 2012 |
| α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization FC Garton, JT Seto, KGR Quinlan, N Yang, PJ Houweling, KN North Human molecular genetics 23 (7), 1879-1893, 2014 | 44 | 2014 |
Professor Kate QuinlanThe University of New South WalesVerified email at unsw.edu.au
