|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
|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), 1-8, 2016
|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
|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), 1-7, 2017
|Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development|
S Thomas-Jinu, PM Gordon, T Fielding, R Taylor, BN Smith, V Snowden, ...
Neuron 94 (2), 322-336. e5, 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
|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
|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
|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
|Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression|
IS Tarr, EP McCann, B Benyamin, TJ Peters, NA Twine, KY Zhang, ...
Scientific reports 9 (1), 1-17, 2019
|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
|Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis|
JA Fifita, KY Zhang, J Galper, KL Williams, EP McCann, AL Hogan, ...
Neurodegenerative Diseases 17 (6), 304-312, 2017
|Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis|
JA Fifita, KL Williams, EP McCann, A O'Brien, DC Bauer, GA Nicholson, ...
Neurobiology of aging 36 (3), 1602. e1-1602. e2, 2015
|Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases|
L Henden, NA Twine, P Szul, EP McCann, GA Nicholson, DB Rowe, ...
NPJ genomic medicine 5 (1), 1-8, 2020
|Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice|
EP McCann, JA Fifita, N Grima, J Galper, P Mehta, SE Freckleton, ...
Journal of Neurology, Neurosurgery & Psychiatry 91 (2), 162-171, 2020
|Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis|
AL Hogan, N Grima, JA Fifita, EP McCann, B Heng, SCM Fat, S Wu, ...
Neuropathology and Applied Neurobiology 47 (7), 990-1003, 2021
|Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis|
JA Fifita, S Chan Moi Fat, EP McCann, KL Williams, NA Twine, DC Bauer, ...
Frontiers in Immunology 12, 2319, 2021
|TRIBES: A user-friendly pipeline for relatedness detection and disease gene discovery|
NA Twine, P Szul, L Henden, EP McCann, IP Blair, KL Williams, DC Bauer
bioRxiv, 686253, 2019
|Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis|
SCM Fat, EP McCann, KL Williams, L Henden, NA Twine, DC Bauer, ...
Neurobiology of Aging 101, 297. e9-297. e11, 2021
|SFPQ intron retention, reduced expression and aggregate formation in central nervous system tissue are pathological features of amyotrophic lateral sclerosis|
AL Hogan, N Grima, JA Fifita, EP McCann, B Heng, SCM Fat, R Maharjan, ...