Stanier, Philip

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

Robinson, A., Escuin, S., Doudney, K., Vekemans, M., Stevenson, R. E., Greene, N. D. E., Copp, A. J., & Stanier, P. (2012) · Human Mutation

Spinal Dysraphism and MalformationsDevelopmental Biology and Gene Regulation

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The role and interaction of imprinted genes in human fetal growth

Moore, G. E., Ishida, M., Demetriou, C., Al-Olabi, L., Leon, L. J., Thomas, A. C., Abu-Amero, S., Frost, J. M., Stafford, J. L., Chaoqun, Y., et al. (2015) · Philosophical Transactions of the Royal Society B: Biological Sciences

Genetic Syndromes and ImprintingBirth, Development, and Health

Cited by 155

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Sousa, S. B., Jenkins, D., Chanudet, E., Tasseva, G., Ishida, M., Anderson, G., Docker, J., Ryten, M., Sa, J., Saraiva, J. M., et al. (2014) · Nature Genetics

Dermatological and Skeletal DisordersGenomics and Rare Diseases

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