Research output per year
Research output per year
Project Details
| Status | Finished |
|---|---|
| Effective start/end date | 1/01/15 → 31/12/19 |
Funding
- National Health and Medical Research Council (NHMRC) (Australia): A$2,416,717.00
-
Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities
Serrano, R. J., Oorschot, V., Palipana, D., Calcinotto, V., Sonntag, C., Ramm, G. & Bryson-Richardson, R. J., 2023, In: Brain Communications. 5, 6, 13 p., fcad317.Research output: Contribution to journal › Article › Research › peer-review
Open Access -
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
Beecroft, S. J., Ayala, M., McGillivray, G., Nanda, V., Agolini, E., Novelli, A., Digilio, M. C., Dotta, A., Carrozzo, R., Clayton, J., Gaffney, L., McLean, C. A., Ng, J., Laing, N. G., Matteson, P., Millonig, J. & Ravenscroft, G., May 2021, In: Human Mutation. 42, 5, p. 506-519 14 p.Research output: Contribution to journal › Article › Research › peer-review
Open Access12 Citations (Scopus) -
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
Bryen, S. J., Oates, E. C., Evesson, F. J., Lu, J. K., Waddell, L. B., Joshi, H., Ryan, M. M., Cummings, B. B., McLean, C. A., MacArthur, D. G., Kornberg, A. J. & Cooper, S. T., Jan 2021, In: European Journal of Human Genetics. 29, 1, p. 61-66 6 p.Research output: Contribution to journal › Article › Research › peer-review
Open Access10 Citations (Scopus)