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Goranitis, I, Wu, Y, Lunke, S, White, SM, Tan, TY, Yeung, A, Hunter, MF, Martyn, M, Gaff, C, Stark, Z.
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children..
Genet Med
24(5)
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1037 -1044
2022
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Akesson, LS, Rius, R, Brown, NJ, Rosenbaum, J, Donoghue, S, Stormon, M, Chai, C, Bordador, E, Guo, Y, Hakonarson, H, et al.
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies..
JIMD Rep
63(3)
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240 -249
2022
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Forbes, TA, Wallace, J, Kumble, S, Delatycki, MB, Stark, Z.
Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening..
J Paediatr Child Health
58(5)
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758 -761
2022
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Morton, SU, Christodoulou, J, Costain, G, Muntoni, F, Wakeling, E, Wojcik, MH, French, CE, Szuto, A, Dowling, JJ, Cohn, RD, et al.
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review..
JAMA Neurol
79(4)
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405 -413
2022
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Hock, DH, Compton, AG, Amarasekera, SSC, Frazier, AE, Helman, G, Lake, NJ, Semcesen, LN, Stark, Z, Lek, M, Simons, C, et al.
Mainstreaming proteomics into rare disease diagnostics.
2022
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