Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Amor, DJ, Stephenson, SEM, Mustapha, M, Mensah, MA, Ockeloen, CW, Lee, WS, Tankard, RM, Phelan, DG, Shinawi, M, de Brouwer, APM, et al.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
American Journal of Human Genetics
104(5)
:
914 -924
2019
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Delatycki, MB, Laing, N, Kirk, E.
Expanded reproductive carrier screening—how can we do the most good and cause the least harm?.
European Journal of Human Genetics
27(5)
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669 -670
2019
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Cowley, MJ, Liu, Y, Oliver, KL, Carvill, G, Myers, CT, Gayevskiy, V, Delatycki, M, Vlaskamp, DRM, Zhu, Y, Mefford, H, et al.
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.
Human Mutation
40(4)
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374 -379
2019
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Bowman-Smart, H, Savulescu, J, Mand, C, Gyngell, C, Pertile, MD, Lewis, S, Delatycki, MB.
‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications.
Journal of Medical Ethics
45(4)
:
medethics-2018-105167
2019
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Hayhurst, H, de Coo, IFM, Piekutowska‐Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, et al.
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Annals of Clinical and Translational Neurology
6(3)
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515 -524
2019
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