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Bouffler, SE, Lee, L, Lynch, F, Martyn, M, Lynch, E, Macciocca, I, Curnow, L, McCorkell, G, Lunke, S, Chong, B, et al.
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol..
BMJ Open
13(6)
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e072999
2023
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Santos Gonzalez, F, Mordaunt, D, Stark, Z, Dalziel, K, Christodoulou, J, Goranitis, I.
Microcosting diagnostic genomic sequencing: A systematic review..
Genet Med
25(6)
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100829
2023
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Poogoda, S, Lynch, F, Stark, Z, Wilkinson, D, Savulescu, J, Vears, D, Gyngell, C.
Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants..
Children (Basel)
10(6)
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2023
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Smallwood, K, Watt, KEN, Ide, S, Baltrunaite, K, Brunswick, C, Inskeep, K, Capannari, C, Adam, MP, Begtrup, A, Bertola, DR, et al.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies..
Am J Hum Genet
110(5)
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809 -825
2023
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Francis, DI, Stark, Z, Scheffer, IE, Tan, TY, Murali, K, Gallacher, L, Amor, DJ, Goel, H, Downie, L, Stutterd, CA, et al.
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability..
Eur J Hum Genet
31(5)
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521 -525
2023
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