ELIXIR-EXCELERATE: fast-track ELIXIR implementation and drive early user exploitation across the life sciences.

Ponting, Chris (Principal Investigator)

Deanery of Molecular, Genetic and Population Health Sciences

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2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
WGS500 Consortium, Fenwick, A. L., Kliszczak, M., Cooper, F., Murray, J., Sanchez-Pulido, L., Twigg, S. R. F., Goriely, A., McGowan, S. J., Miller, K. A., Taylor, I. B., Logan, C., Bozdogan, S., Danda, S., Dixon, J., Elsayed, S. M., Elsobky, E., Gardham, A., Hoffer, M. J. V., Koopmans, M., & 14 othersMcDonald-McGinn, D. M., Santen, G. W. E., Savarirayan, R., de Silva, D., Vanakker, O., Wall, S. A., Wilson, L. C., Yuregir, O. O., Zackai, E. H., Ponting, C. P., Jackson, A. P., Wilkie, A. O. M., Niedzwiedz, W. & Bicknell, L. S., 7 Jul 2016, In: American Journal of Human Genetics. 99, 1, p. 125-38 14 p.
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