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
- 11 Article
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Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia
Scottish Genomes Partnership, Santoyo-Lopez, J., Murray, J. E., Macleod, K., Urquhart, D. S., Unger, S. A., Aitman, T. J. & Mill, P., 8 Aug 2024, (E-pub ahead of print) In: Pediatric Pulmonology.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Hall, N., Parry, D. A., Halachev, M., Williamson, K., Donnelly, K., Campos Parada, J., Bhatia, S., Joseph, J., Holden, S., Prescott, T. E., Bitoun, P., Kirk, E., Newbury-Ecob, R., Lachlan, K., Bernar, J., Van Heyningen, V., FitzPatrick, D. R. & Meynert, A. M., 30 Nov 2023, In: Journal of Medical Genetics.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
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
Projects
- 1 Finished
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Investigating the correlation between Gender Equality, Ethnic Diversity and Financial Materiality
2/10/23 → 1/07/24
Project: Research