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Arkell, K, Gyngell, C, Stark, Z, Vears, DF.
Rapid Genomic Testing in Intensive Care: Health Professionals' Perspectives on Ethical Challenges..
Children (Basel)
10(5)
:
2023
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Selvanathan, A, Forwood, C, Russell, J, Batten, K, Thompson, S, Palmer, EE, Macintosh, R, Nightingale, S, Mitchell, R, Alvaro, F, et al.
Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease..
Pediatr Blood Cancer
e30394
2023
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Roberts, AM, DiStefano, MT, Riggs, ER, Josephs, KS, Alkuraya, FS, Amberger, J, Amin, M, Berg, JS, Cunningham, F, Eilbeck, K, et al.
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms..
2023
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Brazane, M, Dimitrova, DG, Pigeon, J, Paolantoni, C, Ye, T, Marchand, V, Da Silva, B, Schaefer, E, Angelova, MT, Stark, Z, et al.
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance..
Life Sci Alliance
6(4)
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2023
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Horton, AE, Lunke, S, Sadedin, S, Fennell, AP, Stark, Z.
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?.
Eur J Hum Genet
31(4)
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371 -374
2023
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