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“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
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
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
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
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