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 journalReview articlepeer-review

  3. 2024
  4. A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

    Karamysheva, T. V., Lebedev, I. N., Minaycheva, L. I., Nazarenko, L. P., Kashevarova, A. A., Fedotov, D. A., Skryabin, N. A., Lopatkina, M. E., Cheremnykh, A. D., Fonova, E. A., Nikitina, T. V., Sazhenova, E. A., Skleimova, M. M., Kolesnikov, N. A., Drozdov, G. V., Yakovleva, Y. S., Seitova, G. N., Orishchenko, K. E. & Rubtsov, N. B., Mar 2024, In: Frontiers in Genetics. 15, 1331066.

    Research output: Contribution to journalArticlepeer-review

  5. Crosstalk between BER and NHEJ in XRCC4-Deficient Cells Depending on hTERT Overexpression

    Sergeeva, S. V., Loshchenova, P. S., Oshchepkov, D. Y. & Orishchenko, K. E., 27 Sept 2024, In: International Journal of Molecular Sciences. 25, 19, 10405.

    Research output: Contribution to journalArticlepeer-review

  6. 2025
  7. Analysis by Minigene Assay of the Splicing Effect of a Novel Variant c.1545T>G in the SLC26A4 Gene Associated with Hearing Loss

    Panina, E. A., Danilchenko, V. Y., Zytsar, M. V., Orishchenko, K. E. & Posukh, O. L., 10 Jun 2025, In: Russian Journal of Genetics. 61, 5, p. 602-607 6 p.

    Research output: Contribution to journalArticlepeer-review

  8. Evaluation of the impact of variants in the SLC26A4 gene found in patients with hearing loss on splicing by minigene assay

    Данильченко, В. Ю., Панина, Е. А., Зыцарь, М. В., Орищенко, К. Е. & Посух, О. Л., Nov 2025, In: European journal of human genetics. 33, Suppl. 1, p. 186 1 p., EP04.017.

    Research output: Contribution to journalMeeting Abstractpeer-review

ID: 24031389