Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Health Alliance

Status	Finished
Effective start/end date	1/01/16 → 30/06/21

Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy
Lysko, D. E., Meireles, A. M., Folland, C., McNamara, E., Laing, N. G., Lamont, P. J., Ravenscroft, G. & Talbot, W. S., Sept 2022, In: Human Mutation. 43, 9, p. 1216-1223 8 p.
Research output: Contribution to journal › Article › peer-review

Open Access
2 Citations (Scopus)
Implementing gene curation for hereditary cancer susceptibility in Australia: Achieving consensus on genes with clinical utility
Tudini, E., Davidson, A. L., Dressel, U., Andrews, L., Antill, Y., Crook, A., Field, M., Gattas, M., Harris, R., Kirk, J., Pachter, N., Salmon, L., Susman, R., Townshend, S., Trainer, A. H., Tucker, K. M., Mitchell, G., James, P. A., Ward, R. L., Mar Fan, H., & 2 othersPoplawski, N. K. & Spurdle, A. B., 1 Dec 2021, In: Journal of Medical Genetics. 58, 12, p. 853-858 6 p.
Research output: Contribution to journal › Article › peer-review
3 Citations (Scopus)
STRetch: Detecting and discovering pathogenic short tandem repeat expansions
Dashnow, H., Lek, M., Phipson, B., Halman, A., Sadedin, S., Lonsdale, A., Davis, M., Lamont, P., Clayton, J. S., Laing, N. G., MacArthur, D. G. & Oshlack, A., 21 Aug 2018, In: Genome Biology. 19, 1, 121.
Research output: Contribution to journal › Article › peer-review

Open Access
69 Citations (Scopus)

Project Details