Research output per year
Research output per year
Personal profile
Biography
Dr. Joshua Clayton completed his PhD in Genetics at the University of Western Australia in 2018. This work investigated how microRNAs and enhancers regulate complement receptor gene expression in human immune cells. Since joining the team of Prof. Nigel Laing and A/Prof Gina Ravenscroft in 2018, he has contributed to a range of projects including: characterisation of disease-causing short tandem repeat expansions, development of splicing assays to assess whether variants of unknown significance impact mRNA splicing, development of cell and animal models of muscle disease, and development and testing of therapies for the treatment of neuromuscular diseases.
His current research focus centres around the use of induced pluripotent stem cells (iPSCs) to model muscle diseases and test treatments.
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Collaborations and top research areas from the last five years
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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Titin Research Consortium, Coppens, S., Deconinck, N., Sullivan, P., Smolnikov, A., Clayton, J. S., Griffin, K. R., Jones, K. J., Vilain, C. N., Kadhim, H., Bryen, S. J., Faiz, F., Waddell, L. B., Evesson, F. J., Bakshi, M., Pinner, J. R., Charlton, A., Brammah, S., Graf, N. S. & Krivanek, M. & 52 others, , Apr 2025, In: Annals of Neurology. 97, 4, p. 611-628 18 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Link opens in a new tab Citations (Scopus) -
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
Dofash, L. N. H., Miles, L. B., Saito, Y., Rivas, E., Calcinotto, V., Oveissi, S., Serrano, R. J., Templin, R., Ramm, G., Rodger, A., Haywood, J., Ingley, E., Clayton, J. S., Taylor, R. L., Folland, C. L., Groth, D., Hock, D. H., Stroud, D. A., Gorokhova, S. & Donkervoort, S. & 21 others, , 1 May 2025, In: Brain. 148, 5, p. 1707-1722 16 p.Research output: Contribution to journal › Article › peer-review
3 Link opens in a new tab Citations (Scopus) -
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene
Clayton, J. S., Johari, M., Taylor, R. L., Dofash, L., Allan, G., Monahan, G., Houweling, P. J., Ravenscroft, G. & Laing, N. G., 2024, In: Human Mutation. 2024, 1, 19 p., 6496088.Research output: Contribution to journal › Article › peer-review
Open Access14 Link opens in a new tab Citations (Scopus) -
Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing
Houweling, P. J., Crossman, V., Tiong, C. F., Coles, C. A., Taylor, R. L., Clayton, J. S., Graham, A., Vlahos, K., Howden, S. E. & North, K. N., Mar 2024, In: Stem Cell Research. 75, 7 p., 103313.Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Citations (Scopus) -
Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant
Clayton, J. S., Vo, C., Crane, J., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Ravenscroft, G., Laing, N. G. & Taylor, R. L., Oct 2024, In: Stem Cell Research. 80, 6 p., 103491.Research output: Contribution to journal › Article › peer-review
Open Access
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Building translational capacity in WA; Establishing the tools needed to develop treatments for Australian children with muscle disease.
Taylor, R. (Investigator 01), Ravenscroft, G. (Investigator 02), Clayton, J. (Investigator 03), Kuznetsova, I. (Investigator 04), Elaskalani, O. (Investigator 05), Endersby, R. (Investigator 06) & Forrest, A. (Investigator 07)
Stan Perron Charitable Foundation
2/07/23 → 4/07/27
Project: Research
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Testing novel genetic therapies for ACTA1 nemaline myopathy (NEM3) – harnessing patient cells
Laing, N. (Investigator 01), Nowak, K. (Investigator 02), Ravenscroft, G. (Investigator 03), Taylor, R. (Investigator 04) & Clayton, J. (Investigator 05)
A Foundation Building Strength Inc
5/08/20 → 4/08/22
Project: Research