Research output per year
Research output per year
Project Details
| Status | Finished |
|---|---|
| Effective start/end date | 1/02/16 → 29/02/20 |
Funding
- UK central government bodies/local authorities, health and hospital authorities: £4,000,000.00
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Research output
- 4 Article
-
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions
Halachev, M., Meynert, A., Taylor, M. S., Vitart, V., Kerr, S., Klaric, L., SGP Consortium, Aitman, T. J., Haley, C., Prendergast, J., Pugh, C., Hume, D., Harris, S., Liewald, D., Deary, I., Semple, C. A. & Wilson, J. F., 25 Nov 2019, (E-pub ahead of print) In: PLoS Genetics. 15, 11, p. 1-29 30 p., e1008480.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
Kerr, S., Klaric, L., Halachev, M., Hayward, C., Boutin, T., Meynert, A. M., Semple, C. A., Tuiskula, A. M., Swan, H., Santoyo-Lopez, J., Vitart, V., Haley, C., Dean, J., Miedzybrodzka, Z., Aitman, T. J. & Wilson, J. F., 29 Jul 2019, In: Scientific Reports. 9, 10964.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency
Logan, C., Murray, J., Parry, D., Robertson, A., Bellelli, R., Tarnauskaite, Z., Challis, R., Cleal, L., Borel, V., Fluteau, A., Santoyo-Lopez, J., SGP Consortium, Aitman, T., Barroso, I., Basel, D., Bicknell, L., Goel, H., Hu, H., Huff, C., Hutchison, M., & 26 others, 6 Dec 2018, In: American Journal of Human Genetics. 103, 6, p. 1038-1044Research output: Contribution to journal › Article › peer-review
Open AccessFile