• The University of Western Australia (M519), 35 Stirling Highway,

    6009 Perth

    Australia

  • 236 Citations
  • 7 h-Index
20132019
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Fingerprint Dive into the research topics where Royston Ong is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 12 Similar Profiles
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Myotonia Congenita Medicine & Life Sciences
Tropomyosin Medicine & Life Sciences
Arthrogryposis Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Western Australia Medicine & Life Sciences
Skeletal Muscle Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2013 2019

  • 236 Citations
  • 7 h-Index
  • 12 Article
  • 2 Abstract/Meeting Abstract
  • 2 Letter
Open Access
Western Australia
Cohort Studies
Research Ethics Committees
Health
Women's Health Services
2 Citations (Scopus)

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 journalArticle

Myotonia Congenita
Skeletal Muscle
Myosin Light Chains
Mutation
Exome
4 Citations (Scopus)
Professional Education
Western Australia
Confidentiality
Insurance
Health Education
5 Citations (Scopus)
92 Downloads (Pure)

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Lassuthova, P., Rebelo, A. P., Ravenscroft, G., Lamont, P. J., Davis, M. R., Manganelli, F., Feely, S. M., Bacon, C., Brožková, D. Š., Haberlova, J., Mazanec, R., Tao, F., Saghira, C., Abreu, L., Courel, S., Powell, E., Buglo, E., Bis, D. M., Baxter, M. F., Ong, R. W. & 14 othersMarns, L., Lee, Y. C., Bai, Y., Isom, D. G., Barro-Soria, R., Chung, K. W., Scherer, S. S., Larsson, H. P., Laing, N. G., Choi, B. O., Seeman, P., Shy, M. E., Santoro, L. & Zuchner, S., 1 Mar 2018, In : American Journal of Human Genetics. 102, 3, p. 505-514 10 p.

Research output: Contribution to journalArticle

Open Access
File
Axons
Tooth
Mutation
Information Dissemination
Genetic Association Studies
2 Citations (Scopus)

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction

Ravenscroft, G., Pannell, S., O'Grady, G., Ong, R., Ee, H. C., Faiz, F., Marns, L., Goel, H., Kumarasinghe, P., Sollis, E., Sivadorai, P., Wilson, M., Magoffin, A., Nightingale, S., Freckmann, M. L., Kirk, E. P., Sachdev, R., Lemberg, D. A., Delatycki, M. B., Kamm, M. A. & 7 othersBasnayake, C., Lamont, P. J., Amor, D. J., Jones, K., Schilperoort, J., Davis, M. R. & Laing, N. G., 1 Sep 2018, In : Neurogastroenterology and Motility. 30, 9, e13371.

Research output: Contribution to journalArticle

Intestinal Pseudo-Obstruction
Phenotype
Smooth Muscle
Contractile Proteins
Pregnancy