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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. (2021)
on the genotyping of six STR markers (D3S3512, D3S3685, D3S3582, D3S3561, D3S1289, and D3S3698). The structure
OPENING UP NEW HORIZONS FOR PSYCHIATRIC GENETICS IN THE RUSSIAN FEDERATION: MOVING TOWARD A NATIONAL CONSORTIUM
Fedorenko, O.Y., Golimbet, V.E., Ivanova, S.А., Levchenko, А., Gainetdinov, R.R., Semke, A.V., Simutkin, G.G., Gareeva, А.E., Glotov, А.S., Gryaznova, A., Iourov, I.Y., Krupitsky, E.M., Lebedev, I.N., Mazo, G.E., Kaleda, V.G., Abramova, L.I., Oleichik, I.V., Nasykhova, Y.A., Nasyrova, R.F., Nikolishin, A.E., Kasyanov, E.D., Rukavishnikov, G.V., Timerbulatov, I.F., Brodyansky, V.M., Vorsanova, S.G., Yurov, Y.B., Zhilyaeva, T.V., Sergeeva, A.V., Blokhina, E.A., Zvartau, E.E., Blagonravova, A.S., Aftanas, L.I., Bokhan, N.А., Kekelidze, Z.I., Klimenko, T.V., Anokhina, I.P., Khusnutdinova, E.K., Klyushnik, T.P., Neznanov, N.G., Stepanov, V.A., Schulze, T.G., Kibitov, А.О. (2019)
holds for the worldwide psychiatric genetics community. © 2019, The Author(s).
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., FEDOROVA, S.A., NAKHODKIN, S.S., SAZONOV, N.N., MOROZOV, I.V., BONDAR, A.A., POSUKH, O.L, DZHEMILEVA, L.U., KHUSNUTDINOVA, E.K. (2019)
ANALYSIS OF ASSOCIATIONS OF ALLELES AND GENOTYPES OF POLYMORPHIC LOCI OF A RANGE OF CANDIDATE GENES WITH PHENOTYPIC VARIATIONS AT THE LEVEL OF INTELLIGENCE
Nurgalieva, A.Kh., Bashkatov, S.A., Volkova, E.V., Petrova, S.G., Takhirova, Z.R., Mustafin, R.N., Fedorova, Y.Y., Prokofyeva, D.S., Khusnutdinova, E.K. (2023)
THE ROLE OF THE POLYMORPHISM rs28362491 OF THE NFKB1 GENE IN THE GASTRIC CANCER DEVELOPMENT
Nurgalieva, A.Kh., Mustafin, S.A., Petrova, S.G., Ekomasova, N.V., Sakaeva, D.D., Fedorova, Y.Y., Abdeeva, G.R., Dzhaubermezov, M.A., Abdeev, R.R., Rakhimov, R.R., Khusnutdinova, E.K., Prokofyeva, D.S. (2024)
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. (2017)
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. (2017)
of their deafness filled by their parents. Most of the parents at 78% (CI 68.4–85.4%) attributed their children’s HI
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. (2020)
THE ROLE OF MTHFR AND MTRR GENE POLYMORPHISMS IN THE DEVELOPMENT OF CHOLELITHIASIS
Fedorova, Yu. Yu., Nurgalieva, A.K., Petrova, S.G., Murzina, R.R., Dzhaubermezov, M.A., Ekomasova, N.V., Khusnutdinova, E.K., Prokofieva, D.S. (2024)
Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39
Kuligina, E.S., Sokolenko, A.P., Bizin, I.V., Romanko, A.A., Zagorodnev, K.A., Anisimova, M.O., Krylova, D.D., Anisimova, E.I., Mantseva, M.A., Varma, A.K., Hasan, S.K., Ni, V.I., Koloskov, A.V., Suspitsin, E.N., Venina, A.R., Aleksakhina, S.N., Sokolova, T.N., Milanović, A.M., Schürmann, P., Prokofyeva, D.S., Bermisheva, M.A., Khusnutdinova, E.K., Bogdanova, N., Dörk, T., Imyanitov, E.N. (2020)

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