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 journal › Article › peer-review

Charm is a flexible pipeline to simulate chromosomal rearrangements on Hi-C-like data

Nuriddinov, M., Belokopytova, P. & Fishman, V., Jun 2025, In: NAR Genomics and Bioinformatics. 7, 2, p. lqaf081 10 p., lqaf081.

Research output: Contribution to journal › Article › peer-review

От цитогенетики к протеогеномике: новые горизонты в исследовании анеуплодий

Zadesenets, K. S. & Rubtsov, N. B., Jun 2025, In: Vavilovskii Zhurnal Genetiki i Selektsii. 29, 3, p. 335-348 14 p.

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Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants

Gridina, M., Lagunov, T., Belokopytova, P., Torgunakov, N., Nuriddinov, M., Nurislamov, A., Nazarenko, L. P., Kashevarova, A. A., Lopatkina, M. E., Vasilyev, S., Zuev, A., Belyaeva, E. O., Salyukova, O. A., Cheremnykh, A. D., Sukhanova, N. N., Minzhenkova, M. E., Markova, Z. G., Demina, N. A., Stepanchuk, Y., Khabarova, A., & 22 othersYan, A., Valeev, E., Koksharova, G., Grigor’eva, E. V., Kokh, N., Lukjanova, T., Maximova, Y., Musatova, E., Shabanova, E., Kechin, A., Khrapov, E., Boyarskih, U., Ryzhkova, O., Suntsova, M., Matrosova, A., Karoli, M., Manakhov, A., Filipenko, M., Rogaev, E., Shilova, N. V., Lebedev, I. N. & Fishman, V., 7 May 2025, In: Genome Medicine. 17, 1, p. 47 47.

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Some Peculiarities of MLH1 Foci Distribution in Common Degu (Octodon degus, Rodentia: Octodontidae) Chromosomes: Presence in Pericentromeric Regions and Absence in XY

Bikchurina, T., Grishko, E., Odnoprienko, D. & Borodin, P., 16 Apr 2025, In: Cytogenetic and Genome Research. 165, 3-5, p. 128-139 12 p.

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Generation of iTAF1-36-H8.1 and iTAF1-36-H8.2 Human-Induced Pluripotent Stem Cell Lines with HAR Deletion in the CNTN6 Gene by CRISPR/Cas9 Genome-Editing Technology

Chvileva, A. S., Yunusova, A. M., Pristyazhnyuk, I. E., Smirnov, A. V., Ryzhkova, A. S., Belokopytova, P. S. & Shnaider, T. A., 17 Mar 2025, In: Russian Journal of Developmental Biology. 55, 5, p. 296-306 11 p.

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Studying concatenation of the Cas9-cleaved transgenes using barcodes

Smirnov, A. V., Korablev, A. N., Serova, I. A., Yunusova, A. M., Muravyova, A. A., Valeev, E. S. & Battulin, N. R., Feb 2025, In: Vavilovskii Zhurnal Genetiki i Selektsii. 29, 1, p. 26-34 9 p., 3.

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Сравнительный анализ гаплотипов, несущих патогенные варианты C.1545T>G, C.2027T>A и C.919-2A>G гена SLC26A4, у пациентов с потерей слуха из Республики Тыва (Южная Сибирь)

Danilchenko, V. Y., Zytsar, M. V., Panina, E. A., Orishchenko, K. E. & Posukh, O. L., Feb 2025, In: Vavilovskii Zhurnal Genetiki i Selektsii. 29, 1, p. 144-152 9 p., 16.

Research output: Contribution to journal › Article › peer-review

Ultrastructural organization of the liver of rat pups in early postnatal ontogenesis when pregnant and lactating rats are kept on a low-protein diet

Pershina, E. G., Morozova, K. N. & Bgatova, N. P., 2 Jan 2025, In: Ultrastructural Pathology. 49, 1, p. 93-107 15 p., 6.

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Анализ влияния на сплайсинг вариантов гена SLC26A4, выявленных у пациентов с потерей слуха из Республик Тыва и Алтай (Южная Сибирь)

Данильченко, В. Ю., Панина, Е. А., Зыцарь, М. В., Орищенко, К. Е. & Посух, О. Л., 2025, In: Медицинская генетика. 24, 4, p. 53-55

Research output: Contribution to journal › Article › peer-review