Research output per year
Research output per year
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Dive into the research topics where Mihail Halachev is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Research output
- 9 Article
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Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability
Bengani, H., Grozeva, D., Moyon, L., Bhatia, S., Louros, S. R., Hope, J., Jackson, A., Prendergast, J. G., Owen, L. J., Naville, M., Rainger, J., Grimes, G., Halachev, M., Murphy, L. C., Spasic-Boskovic, O., van Heyningen, V., Kind, P., Abbott, C. M., Osterweil, E., Raymond, F. L., & 2 others, 13 Aug 2021, (E-pub ahead of print) In: PLoS ONE. 16, 8, e0256181.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions
Scottish Genomes Partnership, 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 -
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
DDD Study, Aitken, J., Firth, H. V., McRae, J., Halachev, M., Kini, U., Parker, M. J., Lees, M. M., Lachlan, K., Sarkar, A., Joss, S., Splitt, M., McKee, S., Németh, A. H., Scott, R. H., Wright, C. F., Marsh, J., Hurles, M. E. & FitzPatrick, D., 7 Nov 2019, In: American Journal of Human Genetics.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 -
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
Thormann, A., Halachev, M., McLaren, W., Moore, D. J., Svinti, V., Campbell, A., Kerr, S. M., Tischkowitz, M., Hunt, S. E., Dunlop, M. G., Hurles, M. E., Wright, C. F., Firth, H. V., Cunningham, F. & FitzPatrick, D. R., 30 May 2019, In: Nature Communications. 10, 2373, 10 p., 2373.Research output: Contribution to journal › Article › peer-review
Open AccessFile