Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Delatycki, MB.
Presymptomatic testing of those at 25% risk of autosomal dominant neurodegenerative disease- testing team beware.
European Journal of Human Genetics
27(1)
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20 -21
2019
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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)
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858 -873
2018
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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)
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1485 -1485
2018
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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)
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525 -545
2018
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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‐obstruction.
Neurogastroenterology & Motility
30(9)
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e13371
2018
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