| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1267-1288, 2018 | 647 | 2018 |
| Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ... Nature genetics 48 (9), 1043-1048, 2016 | 630 | 2016 |
| A yeast functional screen predicts new candidate ALS disease genes J Couthouis, MP Hart, J Shorter, M DeJesus-Hernandez, R Erion, ... Proceedings of the National Academy of Sciences 108 (52), 20881-20890, 2011 | 458 | 2011 |
| Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis J Couthouis, MP Hart, R Erion, OD King, Z Diaz, T Nakaya, F Ibrahim, ... Human molecular genetics 21 (13), 2899-2911, 2012 | 307 | 2012 |
| CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ... Nature communications 7 (1), 11253, 2016 | 239 | 2016 |
| UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis KL Williams, ST Warraich, S Yang, JA Solski, R Fernando, GA Rouleau, ... Neurobiology of aging 33 (10), 2527. e3-2527. e10, 2012 | 204 | 2012 |
| ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19 Y Takahashi, Y Fukuda, J Yoshimura, A Toyoda, K Kurppa, H Moritoyo, ... The American Journal of Human Genetics 93 (5), 900-905, 2013 | 178 | 2013 |
| Exome sequencing to identify de novo mutations in sporadic ALS trios A Chesi, BT Staahl, A Jovičić, J Couthouis, M Fasolino, AR Raphael, ... Nature neuroscience 16 (7), 851-855, 2013 | 166 | 2013 |
| Pathophysiological insights into ALS with C9ORF72 expansions KL Williams, JA Fifita, S Vucic, JC Durnall, MC Kiernan, IP Blair, ... Journal of Neurology, Neurosurgery & Psychiatry 84 (8), 931-935, 2013 | 118 | 2013 |
| 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 | 106 | 2017 |
| Defects in optineurin-and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis V Sundaramoorthy, AK Walker, V Tan, JA Fifita, EP Mccann, KL Williams, ... Human molecular genetics 24 (13), 3830-3846, 2015 | 104 | 2015 |
| Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis EP McCann, L Henden, JA Fifita, KY Zhang, N Grima, DC Bauer, SCM Fat, ... Journal of medical genetics 58 (2), 87-95, 2021 | 94 | 2021 |
| Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians J Roggenbuck, A Quick, SJ Kolb Genetics in Medicine 19 (3), 267-274, 2017 | 89 | 2017 |
| CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis C Dobson-Stone, M Hallupp, H Shahheydari, AMG Ragagnin, ... Brain 143 (3), 783-799, 2020 | 79 | 2020 |
| The genotype–phenotype landscape of familial amyotrophic lateral sclerosis in Australia EP McCann, KL Williams, JA Fifita, IS Tarr, J O'connor, DB Rowe, ... Clinical genetics 92 (3), 259-266, 2017 | 69 | 2017 |
| Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord BG Trist, S Genoud, S Roudeau, A Rookyard, A Abdeen, V Cottam, ... Brain 145 (9), 3108-3130, 2022 | 49 | 2022 |
| Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype AL Hogan, EK Don, SL Rayner, A Lee, AS Laird, M Watchon, C Winnick, ... Human molecular genetics 26 (14), 2616-2626, 2017 | 47 | 2017 |
| Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin KL Williams, EP McCann, JA Fifita, K Zhang, EL Duncan, PJ Leo, ... Neurobiology of aging 36 (12), 3334. e1-3334. e5, 2015 | 46 | 2015 |
| Evaluation of skin fibroblasts from amyotrophic lateral sclerosis patients for the rapid study of pathological features S Yang, KY Zhang, R Kariawasam, M Bax, JA Fifita, L Ooi, JJ Yerbury, ... Neurotoxicity research 28, 138-146, 2015 | 45 | 2015 |
| A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro JA Fifita, KL Williams, V Sundaramoorthy, EP Mccann, GA Nicholson, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18 (1-2), 126-133, 2017 | 40 | 2017 |
Kelly L WilliamsMacquarie University Motor Neuron Disease Research CentreVerified email at mq.edu.au
