John Kwok
John Kwok
Associate Professor of Neurogenetics and Epigenomics
Verified email at sydney.edu.au
Title
Cited by
Cited by
Year
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
M Hutton, CL Lendon, P Rizzu, M Baker, S Froelich, H Houlden, ...
Nature 393 (6686), 702-705, 1998
36521998
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
LM Mulligan, JBJ Kwok, CS Healey, MJ Elsdon, C Eng, E Gardner, ...
Nature 363 (6428), 458-460, 1993
22241993
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
LM Mulligan, C Eng, CS Healey, D Clayton, JBJ Kwok, E Gardner, ...
Nature genetics 6 (1), 70-74, 1994
7271994
Common genetic variants influence human subcortical brain structures
DP Hibar, JL Stein, ME Renteria, A Arias-Vasquez, S Desrivičres, ...
Nature 520 (7546), 224-229, 2015
6492015
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data
PM Thompson, JL Stein, SE Medland, DP Hibar, AA Vasquez, ...
Brain imaging and behavior 8 (2), 153-182, 2014
4592014
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
VM Van Deerlin, PMA Sleiman, M Martinez-Lage, A Chen-Plotkin, ...
Nature genetics 42 (3), 234-239, 2010
4312010
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ...
The Lancet Neurology 18 (12), 1091-1102, 2019
3762019
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N= 53 949)
G Davies, N Armstrong, JC Bis, J Bressler, V Chouraki, S Giddaluru, ...
Molecular psychiatry 20 (2), 183-192, 2015
3332015
Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: Expansion of the disease phenotype caused by tau gene …
PM Stanford, GM Halliday, WS Brooks, JBJ Kwok, CE Storey, H Creasey, ...
Brain 123 (5), 880-893, 2000
2962000
Genetics of dementia
CT Loy, PR Schofield, AM Turner, JBJ Kwok
The Lancet 383 (9919), 828-840, 2014
2852014
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
G Davies, M Lam, SE Harris, JW Trampush, M Luciano, WD Hill, ...
Nature communications 9 (1), 1-16, 2018
2752018
Frontotemporal dementia and its subtypes: a genome-wide association study
R Ferrari, DG Hernandez, MA Nalls, JD Rohrer, A Ramasamy, JBJ Kwok, ...
The Lancet Neurology 13 (7), 686-699, 2014
2372014
GSK3B polymorphisms alter transcription and splicing in Parkinson's disease
JBJ Kwok, M Hallupp, CT Loy, DKY Chan, J Woo, GD Mellick, ...
Annals of Neurology: Official Journal of the American Neurological …, 2005
2252005
Two novel (M233T and ρ278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel …
JBJ Kwok, K Taddei, M Hallupp, C Fisher, WS Brooks, GA Broe, J Hardy, ...
Neuroreport 8 (6), 1537-1542, 1997
2111997
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration–motor neuron disease
AA Luty, JBJ Kwok, C Dobson‐Stone, CT Loy, KG Coupland, H Karlström, ...
Annals of neurology 68 (5), 639-649, 2010
1912010
Novel genetic loci associated with hippocampal volume
DP Hibar, HHH Adams, N Jahanshad, G Chauhan, JL Stein, E Hofer, ...
Nature communications 8 (1), 1-12, 2017
1872017
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept
B Franke, JL Stein, S Ripke, V Anttila, DP Hibar, KJE Van Hulzen, ...
Nature neuroscience 19 (3), 420-431, 2016
1812016
Tau haplotypes regulate transcription and are associated with Parkinson's disease
JBJ Kwok, ET Teber, C Loy, M Hallupp, G Nicholson, GD Mellick, ...
Annals of Neurology: Official Journal of the American Neurological …, 2004
1792004
Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)
MI Rees, TM Lewis, JBJ Kwok, GR Mortier, P Govaert, RG Snell, ...
Human molecular genetics 11 (7), 853-860, 2002
1732002
Novel genetic loci underlying human intracranial volume identified through genome-wide association
HHH Adams, DP Hibar, V Chouraki, JL Stein, PA Nyquist, ME Rentería, ...
Nature neuroscience 19 (12), 1569-1582, 2016
1632016
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