• 5319 Citations
  • 21 h-Index
20072020
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Fingerprint Dive into the research topics where Kelly Williams is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 28 Similar Profiles
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Exome Medicine & Life Sciences
Motor Neurons Medicine & Life Sciences
Cyclins Medicine & Life Sciences
Ubiquitination Medicine & Life Sciences
Neurodegenerative Diseases Medicine & Life Sciences

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Projects 2013 2020

Research Outputs 2007 2019

  • 5319 Citations
  • 21 h-Index
  • 40 Article
  • 4 Meeting abstract
  • 2 Abstract
  • 1 Entry for encyclopedia/dictionary/reference book

Gene Mapping

Williams, K. L., 2019, Encyclopedia of bioinformatics and computational biology. Ranganathan, S., Gribskov, M., Nakai, K., Schönbach, C. & Gaeta, B. (eds.). Oxford: Academic Press, Vol. 2. p. 242-250 9 p.

Research output: Chapter in Book/Report/Conference proceedingEntry for encyclopedia/dictionary/reference bookResearchpeer-review

chromosome mapping
geneticists
genome
linkage (genetics)
inheritance (genetics)

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 othersKiernan, M. C., Atkin, J., Rowe, D. B., Nicholson, G. A., Walker, A. K., Blair, I. P. & Yang, S., 5 Nov 2019, In : Journal of Neurology, Neurosurgery and Psychiatry.

Research output: Contribution to journalArticleResearchpeer-review

Sclerosis
DNA-Binding Proteins
Transgenic Mice
Spinal Cord
Proteins

Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges

Crook, A., Hogden, A., Mumford, V., Blair, I. P., Williams, K. L. & Rowe, D. B., 1 Nov 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20, Supplement 1, p. 327 1 p., CMS-01.

Research output: Contribution to journalMeeting abstractResearchpeer-review

Genetic Testing
Amyotrophic Lateral Sclerosis
Decision Making
Genetic Counseling
Interviews

Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression

Tarr, I. S., McCann, E. P., Benyamin, B., Peters, T. J., Twine, N. A., Zhang, K. Y., Zhao, Q., Zhang, Z-H., Rowe, D. B., Nicholson, G. A., Bauer, D., Clark, S. J., Blair, I. P. & Williams, K. L., 4 Jun 2019, In : Scientific Reports. 9, 1, p. 1-17 17 p., 8254.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File
Monozygotic Twins
Amyotrophic Lateral Sclerosis
Methylation
Gene Expression
Genes

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.

Lee, A., Rayner, S. L., Gwee, S. S. L., De Luca, A., Shahheydari, H., Sundaramoorthy, V., Morsch, M., Hogan, A., Don, E., Williams, K., Yerbury, J. J., Blair, I., Atkin, J. D., Molloy, M. P. & Chung, R. S., 8 Feb 2019. 1 p.

Research output: Contribution to conferenceAbstractResearchpeer-review

Cyclins
Ubiquitination
Autophagy
Mutation
Genes