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Gyngell, C, Stark, Z, Savulescu, J.
Drugs, genes and screens: The ethics of preventing and treating spinal muscular atrophy..
Bioethics
34(5)
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493 -501
2020
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Shanthikumar, S, Kevat, A, Stapleton, R, Lunke, S, Stark, Z, Vandeleur, M.
Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome..
Pediatr Pulmonol
55(4)
:
855 -857
2020
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Richmond, CM, Campbell, S, Foo, HW, Lunke, S, Stark, Z, Moody, A, Bannister, E, Greenway, A, Brown, N.
Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure..
Mol Syndromol
11(1)
:
50 -55
2020
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Akesson, LS, Bournazos, A, Fennell, A, Krzesinski, EI, Tan, K, Springer, A, Rose, K, Goranitis, I, Francis, D, Lee, C, et al.
Rapid exome sequencing and adjunct rna studies confirm pathogenicity of a novel homozygous asns splicing variant in a critically ill neonate.
Pathology
52:
s106
2020
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Chan, F, Yeung, A, Vasudevan, A, Stark, Z, Prystupa, S, Chan, Y, Leong, T, Ireland-Jenkin, K, Fawcett, S, Graetz, M, et al.
Whole Exome Sequencing (WES) enhances the diagnostic rate of perinatal autopsy: A prospective clinical utility trial with implications for prenatal diagnosis.
Pathology
52:
s68 -s69
2020
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