The missing genetics of rare diseases

Ravenscroft, Gina (Investigator 01)

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

Status	Active
Effective start/end date	1/01/22 → 31/12/26

Funding

NHMRC National Health and Medical Research Council : A$1,284,836.00

3 Article
1 Review article

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
Nagy, S., Pagnamenta, A. T., Cali, E., Braakman, H. M. H., Wijntjes, J., Kusters, B., Gotkine, M., Elpeleg, O., Meiner, V., Lenberg, J., Wigby, K., Friedman, J., Perry, L. D., Rossor, A. M., Meszarosova, A. U., Thomasova, D., Jacob, S., Driscoll, M. O., De Simone, L. & Grange, D. K. & 24 others, Sommerville, R., Firoozfar, Z., Alavi, S., Mazaheri, M., Parmar, J. M., Lamont, P. J., Pini, V., Sarkozy, A., Muntoni, F., Ravenscroft, G., Jones, E., Rourke, D. O., Nel, M., Heckmann, J. M., Kvalsund, M., Kapapa, M. M., Somwe, S. W., Bearden, D. R., Çakar, A., Childs, A. M., Horvath, R., Reilly, M. M., Houlden, H. & Maroofian, R., 28 Oct 2024, In: Brain communications. 6, 6, 10 p., fcae377.
Research output: Contribution to journal › Article › peer-review

Open Access
1 Citation (Scopus)
Genetics of inherited peripheral neuropathies and the next frontier: Looking backwards to progress forwards
Parmar, J. M., Laing, N. G., Kennerson, M. L. & Ravenscroft, G., 16 Oct 2024, In: Journal of Neurology, Neurosurgery and Psychiatry. 95, 11, p. 992-1001 10 p., jnnp-2024-333436.
Research output: Contribution to journal › Review article › peer-review

Open Access
9 Citations (Scopus)
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Weihl, C. C., Topf, A., Bengoechea, R., Duff, J., Charlton, R., Garcia, S. K., Dominguez-Gonzalez, C., Alsaman, A., Hernandez-Lain, A., Franco, L. V., Ponce Sanchez, M. E., Beecroft, S. J., Goullee, H., Daw, J., Bhadra, A., True, H., Inoue, M., Findlay, A. R., Laing, N. & Olive, M. & 2 others, Ravenscroft, G. & Straub, V., Jan 2023, In: Acta Neuropathologica. 145, 1, p. 127-143 17 p.
Research output: Contribution to journal › Article › peer-review

Open Access
22 Citations (Scopus)

The missing genetics of rare diseases

Project Details

Funding

Research output

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations

Genetics of inherited peripheral neuropathies and the next frontier: Looking backwards to progress forwards

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure