Improving outcomes for individuals and families affected by genetic disease

Laing, Nigel (Chief Investigator)

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

Status	Finished
Effective start/end date	1/01/17 → 31/12/21

Funding

National Health & Medical Research Council NHMRC: A$167,769.00
National Health & Medical Research Council NHMRC: A$167,769.00
National Health & Medical Research Council NHMRC: A$167,769.00
National Health & Medical Research Council NHMRC: A$167,769.00
National Health & Medical Research Council NHMRC: A$167,769.00

Access Project

http://purl.org/au-research/grants/nhmrc/1117510

28 Article
3 Review article

Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene
Clayton, J. S., Suleski, I., Vo, C., Smith, R., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Houweling, P. J., Nowak, K. J., Ravenscroft, G., Laing, N. G. & Taylor, R. L., Aug 2022, In: Stem Cell Research. 63, 102829.
Research output: Contribution to journal › Article › peer-review

Open Access
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene
Suleski, I. S., Smith, R., Vo, C., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Houweling, P. J., Nowak, K. J., Laing, N. G., Taylor, R. L. & Clayton, J. S., Aug 2022, In: Stem Cell Research. 63, 102830.
Research output: Contribution to journal › Article › peer-review

Open Access
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
Kirk, E. P., Delatycki, M. B. & Laing, N., 2022, (Accepted/In press) In: Journal of Inherited Metabolic Disease.
Research output: Contribution to journal › Review article › peer-review

Open Access