-
Riley, LG, Rudinger-Thirion, J, Frugier, M, Wilson, M, Luig, M, Alahakoon, TI, Nixon, CY, Kirk, EP, Roscioli, T, Lunke, S, et al.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy..
Hum Mutat
41(8)
:
1425 -1434
2020
view publication
-
Best, S, Stark, Z, Phillips, P, Wu, Y, Long, JC, Taylor, N, Braithwaite, J, Christodoulou, J, Goranitis, I.
Clinical genomic testing: what matters to key stakeholders?.
Eur J Hum Genet
28(7)
:
866 -873
2020
view publication
-
Australian Genomics Health Alliance Acute Care Flagship, Lunke, S, Eggers, S, Wilson, M, Patel, C, Barnett, CP, Pinner, J, Sandaradura, SA, Buckley, MF, Krzesinski, EI, 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..
JAMA
323(24)
:
2503 -2511
2020
view publication
-
Woldegebriel, R, Kvist, J, Andersson, N, Õunap, K, Reinson, K, Wojcik, MH, Bijlsma, EK, Hoffer, MJV, Ryan, MM, Stark, Z, et al.
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content..
Hum Mol Genet
29(9)
:
1426 -1439
2020
view publication
-
Audigé, M, Gillam, L, Stark, Z.
Treatment limitation and advance planning: Hospital-wide audit of paediatric death..
J Paediatr Child Health
56(6)
:
893 -899
2020
view publication