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Personal profile


Dr Kelly Williams is the Co-Director of Research for Macquarie Medical School at Macquarie University.

Dr Williams is a Senior Research Fellow and Group Leader: Genomics & Bioinformatics within the multidisciplinary Centre for Motor Neuron Disease (MND) Research at Macquarie University. Since completion of her PhD in 2013, she have received two fellowships for genetics and genomics research into MND (3-year MNDRA Bill Gole Postdoctoral Fellowship and 4-year NHMRC Early Career Research Fellowship). As one of Australia’s leading early career researchers in MND, she was recruited as a founding member of the Macquarie University Centre for MND Research

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 in disease, 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

Award Date: 28 May 2013

BSc (Honours I), Macquarie University

Award Date: 19 Sep 2007

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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  • Identity-by-descent analysis of CMTX3 links three families through a common founder

    Henden, L., Grosz, B. R., Ellis, M., Nicholson, G. A., Kennerson, M. & Williams, K. L., 13 Sep 2022, (E-pub ahead of print) In: Journal of Human Genetics. 3 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Arts syndrome is caused by loss-of-function mutations in PRPS1

    De Brouwer, A. P. M., Williams, K. L., Duley, J. A., Van Kuilenburg, A. B. P., Nabuurs, S. B., Egmont-Petersen, M., Lugtenberg, D., Zoetekouw, L., Banning, M. J. G., Roeffen, M., Hamel, B. C. J., Weaving, L., Ouvrier, R. A., Donald, J. A., Wevers, R. A., Christodoulou, J. & Van Bokhoven, H., Sep 2007, In: American Journal of Human Genetics. 81, 3, p. 507-518 12 p.

    Research output: Contribution to journalArticlepeer-review

    69 Citations (Scopus)
  • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

    Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y-F., Wang, Q., Krueger, B. J., Ren, Z., Keebler, J., Han, Y., Levy, S. E., Boone, B. E., Wimbish, J. R., Waite, L. L., Jones, A. L., Carulli, J. P., Day-Williams, A. G. & 52 others, Staropoli, J. F., Xin, W. W., Chesi, A., Raphael, A. R., McKenna-Yasek, D., Cady, J., De Jong, J. M. B. V., Kenna, K. P., Smith, B. N., Topp, S., Miller, J., Gkazi, A., Al-Chalabi, A., Van Den Berg, L. H., Veldink, J., Silani, V., Ticozzi, N., Shaw, C. E., Baloh, R. H., Appel, S., Simpson, E., Lagier-Tourenne, C., Pulst, S. M., Gibson, S., Trojanowski, J. Q., Elman, L., McCluskey, L., Grossman, M., Shneider, N. A., Chung, W. K., Ravits, J. M., Glass, J. D., Sims, K. B., Van Deerlin, V. M., Maniatis, T., Hayes, S. D., Ordureau, A., Swarup, S., Landers, J., Baas, F., Allen, A. S., Bedlack, R. S., Harper, J. W., Gitler, A. D., Rouleau, G. A., Brown, R., Harms, M. B., Cooper, G. M., Harris, T., Myers, R. M., Goldstein, D. B. & Williams, K., 27 Mar 2015, In: Science. 347, 6229, p. 1436-1441 6 p.

    Research output: Contribution to journalArticlepeer-review

    656 Citations (Scopus)
  • CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

    Williams, K. L., Topp, S., Yang, S., Smith, B., Fifita, J. A., Warraich, S. T., Zhang, K. Y., Farrawell, N., Vance, C., Hu, X., Chesi, A., Leblond, C. S., Lee, A., Rayner, S. L., Sundaramoorthy, V., Dobson-Stone, C., Molloy, M. P., Van Blitterswijk, M., Dickson, D. W., Petersen, R. C. & 48 others, Graff-Radford, N. R., Boeve, B. F., Murray, M. E., Pottier, C., Don, E., Winnick, C., McCann, E. P., Hogan, A., Daoud, H., Levert, A., Dion, P. A., Mitsui, J., Ishiura, H., Takahashi, Y., Goto, J., Kost, J., Gellera, C., Gkazi, A. S., Miller, J., Stockton, J., Brooks, W. S., Boundy, K., Polak, M., Muñoz-Blanco, J. L., Esteban-Pérez, J., Rábano, A., Hardiman, O., Morrison, K. E., Ticozzi, N., Silani, V., De Belleroche, J., Glass, J. D., Kwok, J. B. J., Guillemin, G. J., Chung, R. S., Tsuji, S., Brown, R. H., García-Redondo, A., Rademakers, R., Landers, J. E., Gitler, A. D., Rouleau, G. A., Cole, N. J., Yerbury, J. J., Atkin, J. D., Shaw, C. E., Nicholson, G. A. & Blair, I. P., 15 Apr 2016, In: Nature Communications. 7, p. 1-8 8 p., 11253.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    130 Citations (Scopus)
    27 Downloads (Pure)
  • A yeast functional screen predicts new candidate ALS disease genes

    Couthouisa, J., Harta, M. P., Shorter, J., DeJesus-Hernandez, M., Erion, R., Oristano, R., Liu, A. X., Ramos, D., Jethava, N., Hosangadi, D., Epstein, J., Chiang, A., Diaz, Z., Nakaya, T., Ibrahim, F., Kim, H. J., Solski, J. A., Williams, K. L., Mojsilovic-Petrovic, J., Ingre, C. & 21 others, Boylan, K., Graff-Radford, N. R., Dickson, D. W., Clay-Falcone, D., Elman, L., McCluskey, L., Greene, R., Kalb, R. G., Lee, V. M. Y., Trojanowski, J. Q., Ludolph, A., Robberecht, W., Andersen, P. M., Nicholson, G. A., Blair, I. P., King, O. D., Bonini, N. M., Van, V. D., Rademakers, R., Mourelatos, Z. & Gitler, A. D., 27 Dec 2011, In: Proceedings of the National Academy of Sciences of the United States of America. 108, 52, p. 20881-20890 10 p.

    Research output: Contribution to journalArticlepeer-review

    295 Citations (Scopus)