1. 2019
  2. Progressive post-lingual sensorineural hearing loss with unknown etiology in subarctic part of Russia (Sakha Republic)

    Barashkov, N. A., Romanov, G. P., Teryutin, F. M., Pshennikova, V. G., Solovyev, A. V., Gotovtsev, N. N., Nikanorova, A. A., Dzhemileva, L. U., Khusnutdinova, E. K., Posukh, O. L. & Fedorova, S. A., Jul 2019, In: European journal of human genetics. 27, p. 897-897 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  3. Unique mutational spectrum of the GJB2 gene and its pathogenic contribution to deafness in tuvinians (Southern siberia, russia): A high prevalence of rare variant c.516G>C (p.trp172Cys)

    Posukh, O. L., Zytsar, M. V., Bady-Khoo, M. S., Danilchenko, V. Y., Maslova, E. A., Barashkov, N. A., Bondar, A. A., Morozov, I. V., Maximov, V. N. & Voevoda, M. I., 5 Jun 2019, In: Genes. 10, 6, 17 p., 429.

    Research output: Contribution to journal › Article › peer-review

  4. A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)

    Barashkov, N. A., Romanov, G. P., Borisova, U. P., Solovyev, A. V., Pshennikova, V. G., Teryutin, F. M., Bondar, A. A., Morozov, I. V., Khusnutdinova, E. K., Posukh, O. L., Burtseva, T. E., Odland, J. Ø. & Fedorova, S. A., 1 Jan 2019, In: International Journal of Circumpolar Health. 78, 1, p. 1630219 1630219.

    Research output: Contribution to journal › Article › peer-review

  5. Comparison of Predictive in Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

    Pshennikova, V. G., Barashkov, N. A., Romanov, G. P., Teryutin, F. M., Solov'ev, A. V., Gotovtsev, N. N., Nikanorova, A. A., Nakhodkin, S. S., Sazonov, N. N., Morozov, I. V., Bondar, A. A., Dzhemileva, L. U., Khusnutdinova, E. K., Posukh, O. L. & Fedorova, S. A., 1 Jan 2019, In: Scientific World Journal. 2019, p. 5198931 5198931.

    Research output: Contribution to journal › Article › peer-review

  6. 2018
  7. Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

    Zytsar, M. V., Barashkov, N. A., Bady-Khoo, M. S., Shubina-Olejnik, O. A., Danilenko, N. G., Bondar, A. A., Morozov, I. V., Solovyev, A. V., Danilchenko, V. Y., Maximov, V. N. & Posukh, O. L., 7 Aug 2018, In: BMC Medical Genetics. 19, 1, p. 138 9 p., 138.

    Research output: Contribution to journal › Article › peer-review

  8. Marital Structure, Genetic Fitness, and the GJB2 Gene Mutations among Deaf People in Yakutia (Eastern Siberia, Russia)

    Romanov, G. P., Barashkov, N. A., Teryutin, F. M., Lashin, S. A., Solovyev, A. V., Pshennikova, V. G., Bondar, A. A., Morozov, I. V., Sazonov, N. N., Tomsky, M. I., Dzhemileva, L. U., Khusnutdinova, E. K., Posukh, O. L. & Fedorova, S. A., 1 May 2018, In: Russian Journal of Genetics. 54, 5, p. 554-561 8 p.

    Research output: Contribution to journal › Article › peer-review

  9. A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)

    Barashkov, N. A., Klarov, L. A., Teryutin, F. M., Solovyev, A. V., Pshennikova, V. G., Konnikova, E. E., Romanov, G. P., Tobokhov, A. V., Morozov, I. V., Bondar, A. A., Posukh, O. L., Dzhemileva, L. U., Tomsky, M. I., Khusnutdinova, E. K. & Fedorova, S. A., 1 Jan 2018, In: International Journal of Pediatric Otorhinolaryngology. 104, p. 94-97 4 p.

    Research output: Contribution to journal › Article › peer-review

  10. A novel pathogenic variant c.975G > A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)

    Barashkov, N. A., Klarov, L. A., Teryutin, F. M., Solovyev, A. V., Pshennikova, V. G., Konnikova, E. E., Romanov, G. P., Tobokhov, A. V., Morozov, I. V., Bondar, A. A., Posukh, O. L., Dzhemileva, L. U., Tomsky, M. I., Khusnutdinova, E. K. & Fedorova, S. A., Jan 2018, In: International Journal of Pediatric Otorhinolaryngology. 104, p. 94-97 4 p.

    Research output: Contribution to journal › Article › peer-review

  11. 2017
  12. Reconstruction of SNP haplotypes with mutation c.-23+1G>A in human gene GJB2 (Chromosome 13) in some populations of Eurasia

    Solovyev, A. V., Barashkov, N. A., Bady-Khoo, M. S., Zytsar, M. V., Posukh, O. L., Romanov, G. P., Rafailov, A. M., Sazonov, N. N., Alexeev, A. N., Dzhemileva, L. U., Khusnutdinova, E. K. & Fedorova, S. A., 1 Aug 2017, In: Russian Journal of Genetics. 53, 8, p. 936-941 6 p.

    Research output: Contribution to journal › Article › peer-review

  13. Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations

    Solovyev, A. V., Dzhemileva, L. U., Posukh, O. L., Barashkov, N. A., Bady-Khoo, M. S., Lobov, S. L., Popova, N. Y., Romanov, G. P., Sazonov, N. N., Bondar, A. A., Morozov, I. V., Tomsky, M. I., Fedorova, S. A. & Khusnutdinova, E. K., 1 Jul 2017, In: Journal of Community Genetics. 8, 3, p. 167-171 5 p.

    Research output: Contribution to journal › Article › peer-review

ID: 3455436