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Goranitis, I, Best, S, Stark, Z, Boughtwood, T, Christodoulou, J.
The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment..
Genet Med
23(1)
:
155 -162
2021
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Jayasinghe, K, Stark, Z, Kerr, PG, Gaff, C, Martyn, M, Whitlam, J, Creighton, B, Donaldson, E, Hunter, M, Jarmolowicz, A, et al.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease..
Genet Med
23(1)
:
183 -191
2021
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Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, Brett, GR, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al.
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10..
Hum Mutat
42(1)
:
19 -24
2021
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Cabrera-Serrano, M, Coote, DJ, Azmanov, D, Goullee, H, Andersen, E, McLean, C, Davis, M, Ishimura, R, Stark, Z, Vallat, J-M, et al.
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy..
J Med Genet
57(12)
:
835 -842
2020
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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..
Genet Med
22(12)
:
1986 -1993
2020
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