Identifying disease genes for neurogenetic disorders using next generation sequencing

Project: Research

Status	Finished
Effective start/end date	1/01/15 → 31/12/19

National Health and Medical Research Council (NHMRC) (Australia): AUD2,416,717.00

Variants in the oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization
O'Grady, G. L., Best, H. A., Sztal, T. E., Schartner, V., Sanjuan-Vazquez, M., Donkervoort, S., Neto, O. A., Sutton, R. B., Ilkovski, B., Romero, N. B., Stojkovic, T., Dastgir, J., Waddell, L. B., Boland, A., Hu, Y., Williams, C., Ruparelia, A. A., Maisonobe, T., Peduto, A. J., Reddel, S. W. & 22 others, Lek, M., Tukainen, T., Cummings, B. B., Joshi, H., Nectoux, J., Brammah, S., Deleuze, J-F., Ing, V. O., Ramm, G., Ardicli, D., Nowak, K. J., Talim, B., Topaloglu, H., Laing, N. G., North, K. N., MacArthur, D. G., Friant, S., Clarke, N. F., Bryson-Richardson, R. J., Bonnemann, C. G., Laporte, J. & Cooper, S. T., 3 Nov 2016, In: American Journal of Human Genetics. p. 1086-1105 20 p.
Research output: Contribution to journal › Article › Research › peer-review

27 Citations (Scopus)
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function
Sztal, T. E., Zhao, M., Williams, C., Oorschot, V., Parslow, A. C., Giousoh, A., Yuen, M., Hall, T. E., Costin, A., Ramm, G., Bird, P. I., Busch-Nentwich, E. M., Stemple, D. L., Currie, P. D., Cooper, S. T., Laing, N. G., Nowak, K. J. & Bryson-Richardson, R. J., 2015, In: Acta Neuropathologica. 130, 3, p. 389-406 18 p.
Research output: Contribution to journal › Article › Research › peer-review

Open Access
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26 Citations (Scopus)

Project Details