Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ... Nature genetics 53 (12), 1636-1648, 2021 | 333 | 2021 |
Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way N Eynon, ED Hanson, A Lucia, PJ Houweling, F Garton, KN North, ... Sports medicine 43, 803-817, 2013 | 297 | 2013 |
Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement N Webborn, A Williams, M McNamee, C Bouchard, Y Pitsiladis, I Ahmetov, ... British journal of sports medicine 49 (23), 1486-1491, 2015 | 212 | 2015 |
ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study ID Papadimitriou, A Lucia, YP Pitsiladis, VP Pushkarev, DA Dyatlov, ... BMC genomics 17, 1-8, 2016 | 195 | 2016 |
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness SM Willems, DJ Wright, FR Day, K Trajanoska, PK Joshi, JA Morris, ... Nature communications 8 (1), 16015, 2017 | 187 | 2017 |
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 | 168 | 2013 |
Athlome Project Consortium: a concerted effort to discover genomic and other “omic” markers of athletic performance YP Pitsiladis, M Tanaka, N Eynon, C Bouchard, KN North, AG Williams, ... Physiological genomics, 2016 | 149 | 2016 |
No evidence of a common DNA variant profile specific to world class endurance athletes T Rankinen, N Fuku, B Wolfarth, G Wang, MA Sarzynski, DG Alexeev, ... PloS one 11 (1), e0147330, 2016 | 146 | 2016 |
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 | 134 | 2011 |
α-Actinin-3 and Performance N Yang, F Garton, K North Genetics and sports 54, 88-101, 2009 | 117 | 2009 |
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis B Benyamin, J He, Q Zhao, J Gratten, F Garton, PJ Leo, Z Liu, ... Nature communications 8 (1), 611, 2017 | 99 | 2017 |
Loss of IL-15 receptor α alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles EE Pistilli, S Bogdanovich, F Garton, N Yang, JP Gulbin, JD Conner, ... The Journal of clinical investigation 121 (8), 3120-3132, 2011 | 99 | 2011 |
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes ID Papadimitriou, SJ Lockey, S Voisin, AJ Herbert, F Garton, ... BMC genomics 19, 1-9, 2018 | 88 | 2018 |
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders MF Nabais, SM Laws, T Lin, CL Vallerga, NJ Armstrong, IP Blair, JB Kwok, ... Genome biology 22, 1-30, 2021 | 66 | 2021 |
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 | 60 | 2016 |
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS PJ Hop, RAJ Zwamborn, E Hannon, GL Shireby, MF Nabais, EM Walker, ... Science translational medicine 14 (633), eabj0264, 2022 | 56 | 2022 |
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 | 52 | 2014 |
Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics A Iacoangeli, T Lin, A Al Khleifat, AR Jones, S Opie-Martin, JRI Coleman, ... Cell Reports 33 (4), 2020 | 50 | 2020 |
Altered skeletal muscle glucose–fatty acid flux in amyotrophic lateral sclerosis FJ Steyn, R Li, SE Kirk, TW Tefera, TY Xie, TJ Tracey, D Kelk, ... Brain communications 2 (2), fcaa154, 2020 | 47 | 2020 |
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 |