• 5670 Citations
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Personal profile


Dr Kelly Williams is an NHMRC Early Career Research Fellow and Group Leader: Genomics & Bioinformatics within the multidisciplinary Centre for Motor Neuron Disease (MND) Research at Macquarie University. She completed her PhD in 2013 at the University of Sydney and was awarded the competitive MNDRIA Bill Gole MND Postdoctoral Fellowship. As one of Australia’s leading early career MND researchers, she was immediately recruited as a founding member of the Centre for MND Research at Macquarie University within the Genetics Research Team. 

The majority of her academic career has focused on determining the genetic basis of motor neuron disease. She has played a central role in critical breakthroughs in MND through the identification of causal mutations in several genes. These seminal discoveries have opened new chapters in MND and frontotemporal dementia (FTD) research and have led to key insights into the pathology of these diseases. Her research has directly translated into clinical practice with these disease genes now added to diagnostic tests worldwide, including preimplantation genetic diagnosis (PGD) and pre-symptomatic testing. 

Research interests

Dr Williams’ Genomics & Bioinformatics team’s current MND research themes are uncovering ancestral cryptic relatedness, identifying disease-modifying factors underlying disease variability, and bioinformatic and biostatistical analysis of omics datasets (including RNA-seq transcriptome, SNP microarray, whole genome/exome sequencing datasets and DNA methylation microarrays).



LaTeX and Overleaf training course for HDR students and supervisors

Education/Academic qualification

PhD, University of Sydney

BSc (Honours I), Macquarie University

External positions

Visiting Research Fellow, The Garvan Institute of Medical Research

Mar 2016Jun 2016

Visiting Research Fellow, Centre for Neurogenetics & Statistical Genomics, Queensland Brain Institute, University of Queensland

May 2015Mar 2016

Research Residency, Centre hospitalier de l'Université de Montréal, Quebec

May 2010Aug 2010

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Research Outputs

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Dobson-Stone, C., Hallupp, M., Shahheydari, H., Ragagnin, A. M. G., Chatterton, Z., Carew-Jones, F., Shepherd, C. E., Stefen, H., Paric, E., Fath, T., Thompson, E. M., Blumbergs, P., Short, C. L., Field, C. D., Panegyres, P. K., Hecker, J., Nicholson, G., Shaw, A. D., Fullerton, J. M., Luty, A. A. & 19 others, Schofield, P. R., Brooks, W. S., Rajan, N., Bennett, M. F., Bahlo, M., Shankaracharya, Landers, J. E., Piguet, O., Hodges, J. R., Halliday, G. M., Topp, S. D., Smith, B. N., Shaw, C. E., McCann, E., Fifita, J. A., Williams, K. L., Atkin, J. D., Blair, I. P. & Kwok, J. B., 1 Mar 2020, In : Brain : a journal of neurology. 143, 3, p. 783-799 17 p.

Research output: Contribution to journalArticle

  • Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

    McCann, E. P., Henden, L., Fifita, J. A., Zhang, K. Y., Grima, N., Bauer, D. C., Fat, S. C. M., Twine, N. A., Pamphlett, R., Kiernan, M. C., Rowe, D. B., Williams, K. L. & Blair, I. P., 14 May 2020, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  • Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

    McCann, E. P., Fifita, J. A., Grima, N., Galper, J., Mehta, P., Freckleton, S. E., Zhang, K. Y., Henden, L., Hogan, A. L., Chan Moi Fat, S., Wu, S. S. L., Jagaraj, C. J., Berning, B. A., Williams, K. L., Twine, N. A., Bauer, D., Piguet, O., Hodges, J., Kwok, J. B. J., Halliday, G. M. & 7 others, Kiernan, M. C., Atkin, J., Rowe, D. B., Nicholson, G. A., Walker, A. K., Blair, I. P. & Yang, S., 1 Feb 2020, In : Journal of Neurology, Neurosurgery and Psychiatry. 91, 2, p. 162-171 10 p.

    Research output: Contribution to journalArticle

  • Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

    Nabais, M. F., Lin, T., Benyamin, B., Williams, K. L., Garton, F. C., Vinkhuyzen, A. A. E., Zhang, F., Vallerga, C. L., Restuadi, R., Freydenzon, A., Zwamborn, R. A. J., Hop, P. J., Robinson, M. R., Gratten, J., Visscher, P. M., Hannon, E., Mill, J., Brown, M. A., Laing, N. G., Mather, K. A. & 17 others, Sachdev, P. S., Ngo, S. T., Steyn, F. J., Wallace, L., Henders, A. K., Needham, M., Veldink, J. H., Mathers, S., Nicholson, G., Rowe, D. B., Henderson, R. D., McCombe, P. A., Pamphlett, R., Yang, J., Blair, I. P., McRae, A. F. & Wray, N. R., 27 Feb 2020, In : npj Genomic Medicine. 5, 1, p. 1-9 9 p., 10.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Downloads (Pure)

    Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

    Tazelaar, G. H. P., Dekker, A. M., van Vugt, J. J. F. A., van der Spek, R. A., Westeneng, H-J., Kool, L. J. B. G., Kenna, K. P., van Rheenen, W., Pulit, S. L., McLaughlin, R. L., Sproviero, W., Iacoangeli, A., Hübers, A., Brenner, D., Morrison, K. E., Shaw, P. J., Shaw, C. E., Panadés, M. P., Mora Pardina, J. S., Glass, J. D. & 11 others, Hardiman, O., Al-Chalabi, A., van Damme, P., Robberecht, W., Landers, J. E., Ludolph, A. C., Weishaupt, J. H., van den Berg, L. H., Veldink, J. H., van Es, M. A. & Project MinE ALS Sequencing Consortium, 1 Feb 2019, In : Neurobiology of Aging. 74, p. 234.e9-234.e15 7 p.

    Research output: Contribution to journalArticle

  • 5 Citations (Scopus)