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

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

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

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

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

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

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

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

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

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