photo of

Details

Role Clinical Geneticist
Group Clinical Services

Top Publications

  • Delatycki, MB. Presymptomatic testing of those at 25% risk of autosomal dominant neurodegenerative disease- testing team beware. European Journal of Human Genetics 27(1) : 20 -21 2019
    view publication
  • Tankard, RM, Bennett, MF, Degorski, P, Delatycki, MB, Lockhart, PJ, Bahlo, M. Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data. American Journal of Human Genetics 103(6) : 858 -873 2018
    view publication
  • Archibald, AD, Smith, MJ, Burgess, T, Scarff, KL, Elliott, J, Hunt, CE, Barns-Jenkins, C, Holt, C, Sandoval, K, Kumar, VS, et al. Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine 20(11) : 1485 -1485 2018
    view publication
  • Shepherd, RF, Lewis, A, Keogh, LA, Werner-Lin, A, Delatycki, MB, Forrest, LE. A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?. Journal of Adolescent and Young Adult Oncology 7(5) : 525 -545 2018
    view publication
  • Ravenscroft, G, Pannell, S, O'Grady, G, Ong, R, Ee, HC, Faiz, F, Marns, L, Goel, H, Kumarasinghe, P, Sollis, E, et al. Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‚Äźobstruction. Neurogastroenterology & Motility 30(9) : e13371 2018
    view publication