Edinburgh Research Explorer

Mihail Halachev

Postdoctoral Translational Bioinformaticist

  1. 2019
  2. 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, In: PLoS Genetics. 15, 11, p. 1-29 30 p., e1008480.

    Research output: Contribution to journalArticlepeer-review

  3. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

    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. & DDD Study, 7 Nov 2019, In: American Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  4. 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 journalArticlepeer-review

  5. 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 journalArticlepeer-review

  6. ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy

    Handley, M., Reddy, K., Wills, J., Rosser, E., Kamath, A., Halachev, M., Falkous, G., Williams, D., Cox, P., Meynert, A., Raymond, E., Morrison, H., Brown, S., Allan, E., Aligianis, I., Jackson, A. P., Ramsahoye, B. H., Von Kriegsheim, A., Taylor, R. W., Finch, A. J. & 1 others, FitzPatrick, D. R., 11 Mar 2019, In: PLoS Genetics.

    Research output: Contribution to journalArticlepeer-review

  7. 2017
  8. A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

    Rainger, J., Williamson, K., Soares, D., Truch, J., Thekkedath Kurian, D., Gillessen-Kaesbach, G., Seawright, A., Prendergast, J., Halachev, M., Wheeler, A., McTeir, L., Gill, A., Van Heyningen, V., Davey, M., UK10K & FitzPatrick, D. R., Aug 2017, In: Human Mutation. 38, 8, p. 942-946

    Research output: Contribution to journalArticlepeer-review

  9. 2016
  10. 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 journalArticlepeer-review

  11. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

    Harley, M. E., Murina, O., Leitch, A., Higgs, M., Bicknell, L. S., Yigit, G., Blackford, A., Zlatanou, A., Mackenzie, K. J., Reddy, K., Halachev, M., McGlasson, S., Reijns, M. A. M., Fluteau, A., Martin, C-A., Sabbioneda, S., Elcioglu, N. H., Altmuller, J., Thiele, H., Greenhalgh, L. & 10 others, Chessa, L., Maghnie, M., Salim, M., Bober, M. B., Nurnberg, P., Jackson, S. P., Hurles, M. E., Wollnik, B., Stewart, G. S. & Jackson, A. P., Jan 2016, In: Nature Genetics. 48, 1, p. 36-43 8 p.

    Research output: Contribution to journalArticlepeer-review