Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Shepherd, RF, Werner-Lin, A, Keogh, LA, Delatycki, MB, Forrest, LE.
“I need to know if I’m going to die young”: Adolescent and young adult experiences of genetic testing for Li–Fraumeni syndrome.
Journal of Psychosocial Oncology
39(1)
:
54 -73
2021
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Kirk, EP, Ong, R, Boggs, K, Hardy, T, Righetti, S, Kamien, B, Roscioli, T, Amor, DJ, Bakshi, M, Chung, CWT, et al.
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”).
European Journal of Human Genetics
29(1)
:
79 -87
2021
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Eratne, D, Schneider, A, Lynch, E, Martyn, M, Velakoulis, D, Fahey, M, Kwan, P, Leventer, R, Rafehi, H, Chong, B, et al.
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Journal of the Neurological Sciences
420:
117260
2021
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Yeung, A, Tan, NB, Tan, TY, Stark, Z, Brown, N, Hunter, MF, Delatycki, M, Stutterd, C, Savarirayan, R, Mcgillivray, G, et al.
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Genetics in Medicine
22(12)
:
1986 -1993
2020
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Thomas, LA, Lewis, S, Massie, J, Kirk, EP, Archibald, AD, Barlow-Stewart, K, Boardman, FK, Halliday, J, McClaren, B, Delatycki, MB.
Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition.
European Journal of Medical Genetics
63(12)
:
104075
2020
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