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Stark, Z, Scott, RH.
Genomic newborn screening for rare diseases..
Nat Rev Genet
24(11)
:
755 -766
2023
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Wu, Y, Jayasinghe, K, Stark, Z, Quinlan, C, Patel, C, McCarthy, H, Mallawaarachchi, AC, Kerr, PG, Alexander, S, Mallett, AJ, et al.
Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation..
Genet Med
25(11)
:
100942
2023
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Lemire, G, Sanchis-Juan, A, Russell, K, Baxter, S, Chao, KR, Singer-Berk, M, Groopman, E, Wong, I, England, E, Goodrich, J, et al.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease..
medRxiv
2023
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Mordaunt, DA, Dalziel, K, Goranitis, I, Stark, Z.
Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia..
Eur J Hum Genet
31(9)
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977 -979
2023
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D'Gama, AM, Mulhern, S, Sheidley, BR, Boodhoo, F, Buts, S, Chandler, NJ, Cobb, J, Curtis, M, Higginbotham, EJ, Holland, J, et al.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study..
Lancet Neurol
22(9)
:
812 -825
2023
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