Identifying disease genes for neurogenetic disorders using next generation sequencing

Laing, Nigel George (Primary Chief Investigator (PCI))
Clarke, Nigel (Chief Investigator (CI))
MacArthur, Daniel (Chief Investigator (CI))
Nowak, Kristen (Chief Investigator (CI))
Ravenscroft, Gianina (Chief Investigator (CI))
Allcock, Richard (Chief Investigator (CI))
Bryson-Richardson, Robert (Chief Investigator (CI))

School of Biological Sciences

Project: Research

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

Funding

NHMRC - National Health and Medical Research Council (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

5 Link opens in a new tab Citations (Scopus)
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 Access

18 Link opens in a new tab 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 Access

11 Link opens in a new tab Citations (Scopus)

Identifying disease genes for neurogenetic disorders using next generation sequencing

Project Details

Funding

Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Identifying disease genes for neurogenetic disorders using next generation sequencing

Project Details

Funding

Research output

Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy