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Stark, Z, Schofield, D, Martyn, M, Rynehart, L, Shrestha, R, Alam, K, Lunke, S, Tan, TY, Gaff, CL, White, SM.
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.
Genetics in Medicine
21(1)
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173 -180
2019
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Stutterd, C, McGillivray, G, Stark, Z, Messazos, B, Cameron, F, White, S, Alliance, MGH, Mirzaa, G, Leventer, R.
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
European Journal of Medical Genetics
61(12)
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738 -740
2018
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Stark, Z, Lunke, S, Brett, GR, Tan, NB, Stapleton, R, Kumble, S, Yeung, A, Phelan, DG, Chong, B, Fanjul-Fernandez, M, et al.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Genetics in Medicine
20(12)
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1554 -1563
2018
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Turnpenny, PD, Wright, MJ, Sloman, M, Caswell, R, van Essen, AJ, Gerkes, E, Pfundt, R, White, SM, Shaul-Lotan, N, Carpenter, L, et al.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
American Journal of Human Genetics
103(5)
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786 -793
2018
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Myers, KA, White, SM, Mohammed, S, Metcalfe, KA, Fry, AE, Wraige, E, Vasudevan, PC, Balasubramanian, M, Scheffer, IE.
Corrigendum to “Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome” [Epilepsy Res. 140 (2018) 166–170].
Epilepsy Research
147:
121
2018
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