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

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

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

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

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

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

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

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

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

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