-
Tan, NB, Stapleton, R, Stark, Z, Delatycki, MB, Yeung, A, Hunter, MF, Amor, DJ, Brown, NJ, Stutterd, CA, McGillivray, G, et al.
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Molecular Genetics & Genomic Medicine
8(11)
:
e1508
2020
view publication
-
Lunke, S, Eggers, S, Wilson, M, Patel, C, Barnett, CP, Pinner, J, Sandaradura, SA, Buckley, MF, Krzesinski, EI, de Silva, MG, et al.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Obstetrical & Gynecological Survey
75(11)
:
662 -664
2020
view publication
-
Shepherd, RF, Keogh, LA, Werner‐Lin, A, Delatycki, MB, Forrest, LE.
Health professionals’ practice for young people with, or at risk of, Li–Fraumeni syndrome: An Australasian survey.
Journal of Genetic Counseling
29(5)
:
737 -747
2020
view publication
-
Rafehi, H, Szmulewicz, DJ, Pope, K, Wallis, M, Christodoulou, J, White, SM, Delatycki, MB, Lockhart, PJ, Bahlo, M.
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data.
Movement Disorders
35(9)
:
1675 -1679
2020
view publication
-
Krishna, R, Pathirana, PN, Corben, LA, Horne, M, Delatycki, MB, Szmulewicz, DJ.
Quantitative Assessment of Friedreich Ataxia through the self-drinking activity.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC)
00:
820 -823
2020
view publication