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  1. 2021

  2. 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

  3. 2020

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 2019

  10. 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

  11. 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

  12. 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

  13. 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

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