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$838,845.00

Access Project

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

37 Article
4 Review article

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
Dofash, L. N. H., Monahan, G., Servian-Morilla, E., Rivas, E., Faiz, F., Sullivan, P., Oates, E., Clayton, J., Taylor, R. L., Davis, M. R., Beilharz, T., Laing, N. G., Cabrera-Serrano, M. & Ravenscroft, G., 20 Mar 2023, In: Human Molecular Genetics. 32, 7, p. 1127-1136 10 p.
Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus)
Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis
Ghaoui, R., Ha, T. T., Kerkhof, J., McConkey, H., Gao, S., Babic, M., King, R., Ravenscroft, G., Koszyca, B., Otto, S., Laing, N. G., Scott, H., Sadikovic, B. & Kassahn, K. S., Jun 2023, In: Neuromuscular Disorders. 33, 6, p. 484-489 6 p.
Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus)
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Cabrera-Serrano, M., Caccavelli, L., Savarese, M., Vihola, A., Jokela, M., Johari, M., Capiod, T., Madrange, M., Bugiardini, E., Brady, S., Quinlivan, R., Merve, A., Scalco, R., Hilton-Jones, D., Houlden, H., Aydin, H. I., Ceylaner, S., Drewes, S., Vockley, J., Taylor, R. L., & 18 othersFolland, C., Kelly, A., Goullee, H., Ylikallio, E., Auranen, M., Tyynismaa, H., Udd, B., Forrest, A. R. R., Davis, M. R., Bratkovic, D., Manton, N., Robertson, T., O'Gorman, C., McCombe, P., Laing, N. G., Phillips, L., de Lonlay, P. & Ravenscroft, G., 1 Nov 2022, In: Brain : a journal of neurology. 145, 11, p. 3985-3998 14 p.
Research output: Contribution to journal › Article › peer-review

Open Access
3 Citations (Scopus)

Improving outcomes for individuals and families affected by genetic disease

Project Details

Funding

Access Project

Research output

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis