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  1. 2023

  2. Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

    Posukh, O. L., Maslova, E. A., Danilchenko, V. Y., Zytsar, M. V. & Orishchenko, K. E., 13 Oct 2023, In: Biomolecules. 13, 10, 1521.

    Research output: Contribution to journal › Review article › peer-review

  3. The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

    Pshennikova, V. G., Teryutin, F. M., Cherdonova, A. M., Borisova, T. V., Solovyev, A. V., Romanov, G. P., Morozov, I. V., Bondar, A. A., Posukh, O. L., Fedorova, S. A. & Barashkov, N. A., 28 Apr 2023, In: Genes. 14, 5, 1001.

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

  4. Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)

    Danilchenko, V. Y., Zytsar, M. V., Maslova, E. A., Orishchenko, K. E. & Posukh, O. L., 17 Apr 2023, In: Genes. 14, 4, 928.

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

  5. 2022

  6. Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss

    Danilchenko, V. Y., Zytsar, M. V., Maslova, E. A. & Posukh, O. L., Nov 2022, In: International Journal of Molecular Sciences. 23, 21, 13453.

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

  7. A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

    Solovyev, A. V., Kushniarevich, A., Bliznetz, E., Bady-Khoo, M., Lalayants, M. R., Markova, T. G., Minárik, G., Kádasi, L., Metspalu, E., Pshennikova, V. G., Teryutin, F. M., Khusnutdinova, E. K., Poliakov, A., Metspalu, M., Posukh, O. L., Barashkov, N. A. & Fedorova, S. A., Apr 2022, In: Human Genetics. 141, 3-4, p. 697-707 11 p.

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

  8. Genetic etiology of hearing loss in Russia

    Posukh, O. L., Apr 2022, In: Human Genetics. 141, 3-4, p. 649-663 15 p.

    Research output: Contribution to journal › Review article › peer-review

  9. Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

    Romanov, G. P., Smirnova, A. A., Zamyatin, V. I., Mukhin, A. M., Kazantsev, F. V., Pshennikova, V. G., Teryutin, F. M., Solovyev, A. V., Fedorova, S. A., Posukh, O. L., Lashin, S. A. & Barashkov, N. A., Feb 2022, In: Biology. 11, 2, 257.

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

  10. 2021

  11. Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

    Danilchenko, V. Y., Zytsar, M. V., Maslova, E. A., Bady-Khoo, M. S., Barashkov, N. A., Morozov, I. V., Bondar, A. A. & Posukh, O. L., Dec 2021, In: Diagnostics. 11, 12, 2378.

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

  12. Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

    Barashkov, N. A., Konovalov, F. A., Borisova, T. V., Teryutin, F. M., Solovyev, A. V., Pshennikova, V. G., Sapojnikova, N. V., Vychuzhina, L. S., Romanov, G. P., Gotovtsev, N. N., Morozov, I. V., Bondar, A. A., Platonov, F. A., Burtseva, T. E., Khusnutdinova, E. K., Posukh, O. L. & Fedorova, S. A., Jun 2021, In: European journal of human genetics. 29, 6, p. 965-976 12 p.

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

  13. Functional evaluation of a rare variant c.516g>c (p.trp172cys) in the GJB2 (connexin 26) gene associated with nonsyndromic hearing loss

    Maslova, E. A., Orishchenko, K. E. & Posukh, O. L., Jan 2021, In: Biomolecules. 11, 1, p. 1-15 15 p., 61.

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

  14. 2020

  15. Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)

    Maslova, E. A., Zytsar, M. V., Danilchenko, V. Y., Orishchenko, K. E. & Posukh, O. L., 1 Dec 2020, In: European journal of human genetics. 28, Suppl 1, p. 191-192 2 p., P02.27.B.

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

  16. Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia)

    Danilchenko, V. Y., Zytsar, M. V., Bady-Khoo, M. S., Maslova, E. A., Bondar, A. A., Morozov, I. V., Barashkov, N. A. & Posukh, O. L., 1 Dec 2020, In: European journal of human genetics. 28, Suppl 1, p. 810-811 2 p., P02.14.

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

  17. A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia

    Romanov, G. P., Pshennikova, V. G., Lashin, S. A., Solovyev, A. V., Teryutin, F. M., Cherdonova, A. M., Borisova, T. V., Sazonov, N. N., Khusnutdinova, E. K., Posukh, O. L., Fedorova, S. A. & Barashkov, N. A., Nov 2020, In: PLoS ONE. 15, 11 November, p. e0242219 e0242219.

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

  18. High rates of three common GJB2 mutations c.516g>c, c.-23+1g>a, c.235delc in deaf patients from southern siberia are due to the founder effect

    Zytsar, M. V., Bady-Khoo, M. S., Danilchenko, V. Y., Maslova, E. A., Barashkov, N. A., Morozov, I. V., Bondar, A. A. & Posukh, O. L., 1 Jul 2020, In: Genes. 11, 7, p. 1-17 17 p., 833.

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

  19. Изучение функциональной значимости варианта с.516G>C (p.Trp172Cys) гена GJB2, ассоциированного с потерей слуха у коренного населения Южной Сибири

    Маслова, Е. А., Зыцарь, М. В., Danilchenko, V. Y., Орищенко, К. Е. & Посух, О. Л., 2020, In: Медицинская генетика. 19, 7, p. 51-53 3 p., 21.

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

  20. 2019

  21. Evidence of thicker epidermal layer in individuals heterozygous for mutation c.-23+1G > A in GJB2 gene (Cx26)

    Solovyev, A. V., Barashkov, N. A., Teryutin, F. M., Pshennikova, V. G., Romanov, G. P., Rafailov, A. M., Sazonov, N. N., Posukh, O. L., Khusnutdinova, E. K. & Fedorova, S. A., Oct 2019, In: European journal of human genetics. 27, p. 1754-1754 1 p.

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

  22. Founder haplotype bearing mutation c.1621C > T (p.Gln541*) in the FYCO1 gene causing of autosomal recessive cataract (CTRCT18) in the Sakha Republic of Russia

    Barashkov, N. A., Vychuzhina, L. S., Solovyev, A. V., Teryutin, F. M., Pshennikova, V. G., Burtseva, T. E., Tomsky, M. I., Platonov, F. A., Romanov, G. P., Gotovtsev, N. N., Khusnutdinova, E. K., Posukh, O. L. & Fedororva, S. A., Oct 2019, In: European journal of human genetics. 27, p. 1220-1221 2 p.

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

  23. Postlingual deafness in Eveno-Bytantaysky National District of the Sakha Republic (Eastern Siberia, Russia): audiological and clinical-genealogical analysis

    Pshennikova, V. G., Teryutin, F. M., Barashkov, N. A., Romanov, G. P., Solov'ev, A. V., Gotovtsev, N. N., Nikanorova, A. A., Dzhemileva, L. U., Khusnutdinova, E. K., Posukh, O. L. & Fedorova, S. A., Oct 2019, In: European journal of human genetics. 27, p. 1820-1821 2 p.

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

  24. Waardenburg syndrome in the Sakha Republic (Eastern Siberia, Russia): mutation analyses of genes PAX3, MITF, SOX10 and SNAI2

    Барашков, Н., Борисова, У., Романов, Г., Соловьев, А., Пшенникова, В., Терютин, Ф., Бондарь, А., Морозов, И. В., Джемилева, Л., Хуснутдинова, Э., Посух, О. Л. & Федорова, С., 1 Jul 2019, In: European journal of human genetics. 26, p. 852 2 p., E-P02.25.

    Research output: Contribution to journal › Conference article › peer-review

  25. Allelic diversity of the GJB2 gene in deaf patients and ethnically matched controls from Turkic-speaking populations of South Siberia

    Zytsar, M. V., Bady-Khoo, M. S., Maslova, E. A., Danilchenko, V. Y., Barashkov, N. A., Morozov, I. V., Bondar, A. A. & Posukh, O. L., Jul 2019, In: European journal of human genetics. 27, p. 894-895 2 p.

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

  26. Insight into genetic and social aspects of modern communities of deaf people in Siberia for forecasting the prevalence of hereditary deafness

    Posukh, O. L., Bady-Khoo, M. S., Romanov, G. P., Barashkov, N. A., Smirnova, A. A., Zytsar, M. V., Maslova, E. A., Danilchenko, V. Y., Posukh, O. V. & Lashin, S. A., Jul 2019, In: European journal of human genetics. 27, p. 1038-1038 1 p.

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

  27. Opinions of young hearing people living in the Sakha Republic (Russia) about potential risk of the birth of deaf child

    Cherdonova, A. M., Solovyev, A. V., Pshennikova, V. G., Barashkov, N. A., Romanov, G. P., Nikanorova, A. A., Kononova, S. K., Posukh, O. L., Fedorova, S. A. & Teryutin, F. M., Jul 2019, In: European journal of human genetics. 27, p. 717-717 1 p.

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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 2018

  33. 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

  34. 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

  35. 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

  36. 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

  37. 2017

  38. 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

  39. 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

  40. Analysis of GJB6 (Сx30) and GJB3 (Сx31) genes in deaf patients with monoallelic mutations in GJB2 (Сx26) gene in the Sakha Republic (Yakutia)

    Pshennikova, V. G., Barashkov, N. A., Solovyev, A. V., Romanov, G. P., Diakonov, E. E., Sazonov, N. N., Morozov, I. V., Bondar, A. A., Posukh, O. L., Dzhemileva, L. U., Khusnutdinova, E. K., Tomsky, M. I. & Fedorova, S. A., 1 Jun 2017, In: Russian Journal of Genetics. 53, 6, p. 688-697 10 p.

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

  41. 2016

  42. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

    Mallick, S., Li, H., Lipson, M., Mathieson, I., Gymrek, M., Racimo, F., Zhao, M., Chennagiri, N., Nordenfelt, S., Tandon, A., Skoglund, P., Lazaridis, I., Sankararaman, S., Fu, Q., Rohland, N., Renaud, G., Erlich, Y., Willems, T., Gallo, C., Spence, J. P., & 59 othersSong, Y. S., Poletti, G., Balloux, F., Van Driem, G., De Knijff, P., Romero, I. G., Jha, A. R., Behar, D. M., Bravi, C. M., Capelli, C., Hervig, T., Moreno-Estrada, A., Posukh, O. L., Balanovska, E., Balanovsky, O., Karachanak-Yankova, S., Sahakyan, H., Toncheva, D., Yepiskoposyan, L., Tyler-Smith, C., Xue, Y., Abdullah, M. S., Ruiz-Linares, A., Beall, C. M., Di Rienzo, A., Jeong, C., Starikovskaya, E. B., Metspalu, E., Parik, J., Villems, R., Henn, B. M., Hodoglugil, U., Mahley, R., Sajantila, A., Stamatoyannopoulos, G., Wee, J. T. S., Khusainova, R., Khusnutdinova, E., Litvinov, S., Ayodo, G., Comas, D., Hammer, M. F., Kivisild, T., Klitz, W., Winkler, C. A., Labuda, D., Bamshad, M., Jorde, L. B., Tishkoff, S. A., Watkins, W. S., Metspalu, M., Dryomov, S., Sukernik, R., Singh, L., Thangaraj, K., Paäbo, S., Kelso, J., Patterson, N. & Reich, D., 2016, In: Nature. 538, 7624, p. 201-206 6 p.

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

ID: 3455436