Neuromics: Application of Next Generation Sequencing to Neurogenetic Disorders in Australia

Laing, Nigel (Investigator 01)

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

Status	Finished
Effective start/end date	1/01/13 → 31/12/17

Funding

NHMRC National Health and Medical Research Council : A$999,240.00

Access Project

http://purl.org/au-research/grants/nhmrc/1055295

10 Article

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
Sedghi, M., Salari, M., Moslemi, A. R., Kariminejad, A., Davis, M., Goullée, H., Olsson, B., Laing, N. & Tajsharghi, H., 1 Dec 2018, In: Neurology: Genetics. 4, 6, e295.
Research output: Contribution to journal › Article › peer-review

Open Access
11 Citations (Web of Science)
Bi-allelic mutations in MYL1 cause a severe congenital myopathy
Ravenscroft, G., Zaharieva, I. T., Bortolotti, C. A., Lambrughi, M., Pignataro, M., Borsari, M., Sewry, C. A., Phadke, R., Haliloglu, G., Ong, R., Goullée, H., Whyte, T., Consortium, U. K., Manzur, A., Talim, B., Kaya, U., Osborn, D. P. S., Forrest, A. R. R., Laing, N. G. & Muntoni, F., 15 Dec 2018, In: Human Molecular Genetics. 27, 24, p. 4263-4272 10 p.
Research output: Contribution to journal › Article › peer-review

Open Access
File
25 Citations (Scopus)

203 Downloads (Pure)
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction
Lee, R. G., Sedghi, M., Salari, M., Shearwood, A-M. J., Stentenbach, M., Kariminejad, A., Goullee, H., Rackham, O., Laing, N. G., Tajsharghi, H. & Filipovska, A., Oct 2018, In: Neurology: Genetics. 4, 5, 10 p., e276.
Research output: Contribution to journal › Article › peer-review

Open Access
27 Citations (Scopus)