Research output per year
Research output per year
Project Details
| Status | Finished |
|---|---|
| Effective start/end date | 1/11/12 → 31/07/18 |
Funding
- EU government bodies: £1,153,590.00
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Research output
- 6 Article
-
Biallelic variants in DNA2 cause microcephalic primordial dwarfism
Tarnauskaitė, Ž., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., Bober, M. B., de Silva, D. C., Duker, A. L., Sillence, D., Wise, C., Jackson, A. P., Murina, O. & Reijns, M. A. M., Aug 2019, In: Human Mutation: Variation, Informatics and Disease. 40, 8, p. 1063-1070Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
The DDD Study, Wood, A. J., Vagnarelli, P. & Jackson, A. P., Oct 2016, In: Genes and Development. 30, 19, p. 2158-2172 15 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
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 others, 7 Jul 2016, In: American Journal of Human Genetics. 99, 1, p. 125-38 14 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile