Kwok, John B.

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

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Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Nalls, M. A., Blauwendraat, C., Vallerga, C. L., Heilbron, K., Bandres-Ciga, S., Chang, D., Tan, M., Kia, D. A., Noyce, A. J., Xue, A., et al. (2019) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

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The genetic architecture of the human cerebral cortex

Grasby, K. L., Jahanshad, N., Painter, J. N., Colodro-Conde, L., Bralten, J., Hibar, D. P., Lind, P. A., Pizzagalli, F., Ching, C. R. K., McMahon, M. A. B., et al. (2020) · Science

Genetic Associations and EpidemiologyCognitive Abilities and Testing

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Common genetic variants influence human subcortical brain structures

Initiative, T. A. D. N., Hibar, D. P., The CHARGE Consortium, EPIGEN, IMAGEN, SYS, Stein, J. L., Renteria, M. E., Arias-Vasquez, A., Desrivières, S., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

the Alzheimer’s Disease Neuroimaging Initiative, E. C., Thompson, P. M., Stein, J. L., Medland, S. E., Hibar, D. P., Vasquez, A. A., Renteria, M. E., Toro, R., Jahanshad, N., Schumann, G., et al. (2014) · Brain Imaging and Behavior

Genetic Associations and EpidemiologyFunctional Brain Connectivity Studies

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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Van Deerlin, V. M., Sleiman, P. M. A., Martinez-Lage, M., Chen-Plotkin, A., Wang, L.-S., Graff-Radford, N. R., Dickson, D. W., Rademakers, R., Boeve, B. F., Grossman, M., et al. (2010) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

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Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing

Zhang, Q., Vallerga, C. L., Walker, R. M., Lin, T., Henders, A. K., Montgomery, G. W., He, J., Fan, D., Fowdar, J., Kennedy, M., et al. (2019) · Genome Medicine

Epigenetics and DNA MethylationGenetics, Aging, and Longevity in Model Organisms

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Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)

Davies, G., Armstrong, N., Bis, J. C., Bressler, J., Chouraki, V, Giddaluru, S., Hofer, E., Ibrahim-Verbaas, C. A., Kirin, M., Lahti, J., et al. (2015) · Molecular Psychiatry

Genetic Associations and EpidemiologyCognitive Abilities and Testing

Cited by 384

Frontotemporal dementia and its subtypes: a genome-wide association study

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., et al. (2014) · The Lancet Neurology

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

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Genetics of dementia

Loy, C. T., Schofield, P. R., Turner, A. M., & Kwok, J. B. (2014) · The Lancet

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

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Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Moore, K. M., Nicholas, J., Grossman, M., McMillan, C. T., Irwin, D. J., Massimo, L., Van Deerlin, V. M., Warren, J. D., Fox, N. C., Rossor, M. N., et al. (2020) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

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Novel genetic loci associated with hippocampal volume

Hibar, D. P., Adams, H. H. H., Jahanshad, N., Chauhan, G., Stein, J. L., Hofer, E., Renteria, M. E., Bis, J. C., Arias-Vasquez, A., Ikram, M. K., et al. (2017) · Nature Communications

Genetic Associations and EpidemiologyMemory and Neural Mechanisms

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Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene

Stanford, P. M., Halliday, G. M., Brooks, W. S., Kwok, J. B. J., Storey, C. E., Creasey, H., Morris, J. G. L., Fulham, M. J., & Schofield, P. R. (2000) · Brain

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

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GSK3B polymorphisms alter transcription and splicing in Parkinson's disease

Kwok, J. B. J., Hallupp, M., Loy, C. T., Chan, D. K. Y., Woo, J., Mellick, G. D., Buchanan, D. D., Silburn, P. A., Halliday, G. M., & Schofield, P. R. (2005) · Annals of Neurology

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Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Swarup, V., Hinz, F. I., Rexach, J. E., Noguchi, K.-I., Toyoshiba, H., Oda, A., Hirai, K., Sarkar, A., Seyfried, N. T., Cheng, C., et al. (2019) · Nature Medicine

Alzheimer's disease research and treatmentsBioinformatics and Genomic Networks

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Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., et al. (2018) · The Lancet Neurology

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Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

study, T. A. I. B. A. L., Nabais, M. F., Initiative, T. A. D. N., Laws, S. M., Lin, T., Vallerga, C. L., Armstrong, N. J., Blair, I. P., Kwok, J. B., Mather, K. A., et al. (2021) · Genome Biology

Epigenetics and DNA MethylationDementia and Cognitive Impairment Research

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Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

Writing Committee for the ENIGMA-CNV Working Group, van der Meer, D., Sønderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N. J., et al. (2020) · JAMA Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21–22

Baker, M., Kwok, J. B. J., Kucera, S., Crook, R., Farrer, M., Houlden, H., Isaacs, A., Lincoln, S., Onstead, L., Hardy, J., et al. (1997) · Annals of Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Sønderby, I. E., Gústafsson, Ó., Doan, N. T., Hibar, D. P., Martin-Brevet, S., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N. J., et al. (2020) · Molecular Psychiatry

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Progression in Behavioral Variant Frontotemporal Dementia: A Longitudinal Study

Devenney, E., Bartley, L., Hoon, C., O’Callaghan, C., Kumfor, F., Hornberger, M., Kwok, J. B., Halliday, G. M., Kiernan, M. C., Piguet, O., et al. (2015) · JAMA Neurology

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Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume

Vojinovic, D., Adams, H. H., Jian, X., Yang, Q., Smith, A. V., Bis, J. C., Teumer, A., Scholz, M., Armstrong, N. J., Hofer, E., et al. (2018) · Nature Communications

Genetic Associations and EpidemiologyCerebrospinal fluid and hydrocephalus

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Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations

Marian, O. C., Teo, J. D., Lee, J. Y., Song, H., Kwok, J. B., Landin-Romero, R., Halliday, G., & Don, A. S. (2023) · Acta Neuropathologica Communications

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Assessment of amyloid β in pathologically confirmed frontotemporal dementia syndromes

Tan, R. H., Kril, J. J., Yang, Y., Tom, N., Hodges, J. R., Villemagne, V. L., Rowe, C. C., Leyton, C. E., Kwok, J. B. J., Ittner, L. M., et al. (2017) · Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring

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