Scientific publications

2024

  • 1. Bostanova F, Levchenko O, Sharova M, Semenova N. Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene. Clinics and Practice. 2024 May 21;14(3):928-33.
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  • 2. Akimova D, Markova T, Ampleeva M, Skoblov M. Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24. 32: a case report. Frontiers in Genetics. 2024 Jan 5;14:1303807.
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  • 3. Marakhonov A, Serebryakova E, Mukhina A, Vechkasova A, Prokhorov N, Efimova I, Balinova N, Lobenskaya A, Vasilyeva T, Zabnenkova V, Ryzhkova O. A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC. International Journal of Molecular Sciences. 2024 Oct 9;25(19):10844.
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  • 4. Shchagina O, Stepanova A, Mishakova P, Kadyshev V, Demina N, Bessonova L, Ionova S, Guseva D, Marakhonov A, Zinchenko R, Kutsev S. Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients. Biomedicines. 2024 Oct 1;12(10):2234.
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  • 5. Kondrateva EV, Grigorieva OV, Kurshakova EV, Panchuk IO, Pozhitnova VO, Voronina ES, Tabakov VY, Nikishina IP, Arsenyeva SV, Matkava VG, Lavrov AV. Creation of Induced Pluripotent Stem Cells RCMGi014-A Using Reprogramming of Urine Cells of a Patient with Fibrodysplasia Ossificans Progressiva Associated with Heterozygous Mutation in the ACVR1 Gene. Russian Journal of Developmental Biology. 2024 Feb;55(1):34-8.
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  • 6. Sparber P, Ulas E, Filatova A, Tatarskiy E, Perelman G, Makretskaya N, Nagaeva E, Kareva M, Frolova E, Kalinchenko N, Tvorogova AV. Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype. The Journal of Clinical Endocrinology & Metabolism. 2024 Dec 6:dgae839.
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  • 7. Kyian T, Borovikov A, Anisimova I, Ryzhkova O, Bulakh M, Bragina E, Avakyan M, Demchenko A, Zabnenkova V, Kovalev V, Bukhonin A. Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases. Genes. 2024 Dec 20;15(12):1633.
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  • 8. Kekeeva T, Dudina I, Andreeva Y, Tanas A, Kalinkin A, Musatova V, Chernorubashkina N, Khokhlova S, Tikhomirova T, Volkonsky M, Kutsev S. Molecular Subgroups of HRD Positive Ovarian Cancer and Their Prognostic Significance. International Journal of Molecular Sciences. 2024 Dec 18;25(24):13549.
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  • 9. Tsygankova P, Chistol D, Krylova T, Bychkov I, Tabakov V, Markova T, Dadali E, Zakharova E. A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH). Genes. 2024 Oct 30;15(11):1406.
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  • 10. Kistol D, Tsygankova P, Bostanova F, Orlova M, Zakharova E. New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants. International Journal of Molecular Sciences. 2024 May 8;25(10):5127.
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  • 11. Sharkova I, Borovikov A, Konovalov F, Nefedova M, Shchagina O, Kutsev S, Murtazina A. Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings. Clinical Genetics. 2024.
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  • 12. Subbotin D, Ionova S, Marakhonov A, Saifullina E, Borovikov A, Akhmadeeva L, Chausova P, Ryzhkova O, Zinchenko R, Kutsev S, Murtazina A. The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin. Frontiers in Genetics. 2024 Dec 11;15:1511304.
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  • 13. Kuchina A, Murtazina A, Borovikov A, Subbotin D, Bardakov S, Akhkiamova M, Nikolaeva A, Shchagina O, Kutsev S. Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene. International Journal of Molecular Sciences. 2024 Oct 9;25(19):10841.
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  • 14. Kondratyeva E, Melyanovskaya Y, Sherman V, Voronkova A, Zhekaite E, Krasovsky S, Amelina E, Kashirskaya N, Shadrina V, Polyakov A, Adyan T. Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation. Frontiers in Genetics. 2024 Oct 28;15:1383033.
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  • Томск:
  • 15. Y.Y. Kotalevskaya, V.A. Stepanov Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families // Frontiers in Medicine. 2024 Jul 29:11:1418239 DOI 10.3389/fmed.2024.1418239
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  • 16. D.I. Zhigalina, T.N. Kireeva, T.V. Nikitina, O.N. Odinokova, N.A. Kolesnikov, A.A. Malakhova, R.R. Savchenko, I.Zh. Zhalsanova, N.R. Valiahmetov, A.E. Postrigan, S.L. Vovk, N.B. Torkhova, A.A. Frolova, V.A. Stepanov, and N A. Skryabin Generation of an Induced Pluripotent StemCell Line TNRMCi001-A by Reprogramming Fibroblasts from a Homozygous F508del Cystic Fibrosis Patient // Russian Journal of Developmental Biology, 2023, Vol. 54, Suppl. 1, S68–S74. DOI: 10.1134/S106236042307007X
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  • 17. E.V. Soloveva, M.M. Skleimova, L.I. Minaycheva, A.F. Garaeva, D.I. Zhigalina, E.O. Churkin, Y.V. Okkel, O.S. Timofeeva, I.A. Petrov, G.N. Seitova, I.N. Lebedev, V.A. Stepanov PGT M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases// Journal of Assisted Reproduction and Genetics (2024) 41:1273–1283 doi.org/10.1007/s10815-024-03105-w
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  • 18. Zhalsanova IZ, Fonova EA, Valiakhmetov NR, Kolesnikov NA, Gosudarkina SN, Agafonova AA, Ravzhaeva EG, Seitova GN, Stepanov VA, Skryabin NA. Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis. International Journal of Molecular Sciences. 2024 Dec 4;25(23):13025.
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2023

  • 1. Kekeeva T, Andreeva Y, Tanas A, Kalinkin A, Khokhlova S, Tikhomirova T, Tyulyandina A, Popov A, Kuzmenko M, Volkonsky M, Chernorubashkina N. HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?. International Journal of Molecular Sciences. 2023 Jun 22;24(13):10497.
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  • 3. Shchagina O, Orlova M, Murtazina A, Filatova A, Skoblov M, Dadali E. Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International Journal of Molecular Sciences. 2023 Jun 6;24(12):9786.
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  • 4. Shchagina, Olga, Elena Gracheva, Alyona Chukhrova, Elena Bliznets, Igor Bychkov, Sergey Kutsev, and Aleksander Polyakov. 2024. "Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema" Biomedicines 12, no. 1: 72.
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  • 5. Levchenko O, Filatova A, Mishina I, Antonenko A, Skoblov M. Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report. Frontiers in Genetics. 2023;14.
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  • 6. Murtazina A, Borovikov A, Kuchina A, Ovsova O, Bulakh M, Chukhrova A, Braslavskaya S, Ryzhkova O, Skryabin N, Kutsev S, Dadali E. Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3. International Journal of Molecular Sciences. 2023 Dec 21;25(1):129.
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  • 7. Vasilyeva TA, Sukhanova NV, Khalanskaya OV, Marakhonov AV, Prokhorov NS, Kadyshev VV, Skryabin NA, Kutsev SI, Zinchenko RA. An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280. 4: c. 341A> G, p.(Asn114Ser). Current Issues in Molecular Biology. 2023 Dec 22;46(1):96-105.
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  • 8. Petrova N, Tebieva I, Kadyshev V, Getoeva Z, Balinova N, Marakhonov A, Vasilyeva T, Ginter E, Kutsev S, Zinchenko R. Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania. PeerJ. 2023 Jan 30;11:e14514.
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  • 9. Baydakova GV, Tsygankova PG, Pechatnikova NL, Bazhanova OA, Nazarenko YD, Zakharova EY. New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. International Journal of Neonatal Screening. 2023 Aug 25;9(3):48.
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  • 10. Krasnova M, Efremova A, Bukhonin A, Zhekaite E, Bukharova T, Melyanovskaya Y, Goldshtein D, Kondratyeva E. The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy. International Journal of Molecular Sciences. 2023 Dec 21;25(1):114.
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  • 11. Kondrateva E, Grigorieva O, Kurshakova E, Panchuk I, Pozhitnova V, Voronina E, Tabakov V, Orlova M, Lavrov A, Smirnikhina S, Kutsev S. Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva. Stem Cell Research. 2023 Jun 7:103133.
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  • 12. Panchuk IO, Grigorieva OV, Kondrateva EV, Kurshakova EV, Tabakov V, Bychkov IO, Zakharova E, Orlova MD, Voronina ES, Pozhitnova VO, Lavrov AV. Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12. Stem Cell Research. 2023 Sep 1;71:103183.
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  • 13. Kondrateva E, Grigorieva O, Panchuk I, Bychkov I, Zakharova E, Tabakov V, Pozhitnova V, Voronina E, Shchagina O, Lavrov A, Smirnikhina S. Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI. Stem Cell Research. 2023 Dec 1;73:103259.
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  • 14. Zhalsanova IZ, Postrigan AE, Valiakhmetov NR, Kolesnikov NA, Zhigalina DI, Zarubin AA, Petrova VV, Minaycheva LI, Seitova GN, Skryabin NA, Stepanov VA. Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI. International Journal of Molecular Sciences. 2023 Apr 3;24(7):6672.
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  • 15. Коталевская ЮЮ, Степанов ВА. Молекулярно-генетические основы буллезного эпидермолиза. Вавиловский журнал генетики и селекции. 2023 Mar 6;27(1):18-27.
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2022

  • 1. Voskoboeva EY, Bookina TM, Semyachkina AN, Mikhaylova SV, Vashakmadze ND, Baydakova GV, Zakharova EY, Kutsev SI. Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology. Frontiers in Molecular Biosciences. 2021;8. (Квартиль издания - Q1)
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  • 2. Voskoboeva E, Semyachkina A, Miklyaev O, Gamzatova A, Mikhaylova S, Vashakmadze N, Baydakova G, Omzar O, Pichkur N, Zakharova E, Kutsev S. Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia. Frontiers in Molecular Biosciences. 2022 Jan 18;8:780184. (Квартиль издания - Q1)
    Download PDF 1.5 MB
  • 3. Petrova NV, Kashirskaya NY, Vasilyeva TA, Balinova NV, Marakhonov AV, Kondratyeva EI, Zhekaite EK, Voronkova AY, Kutsev SI, Zinchenko RA. High frequency of complex CFTR alleles associated with c. 1521_1523delCTT (F508del) in Russian cystic fibrosis patients. BMC genomics. 2022 Dec;23(1):1-6. (Квартиль издания - Q2)
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  • 4. Sharkov A, Sparber P, Stepanova A, Pyankov D, Korostelev S, Skoblov M. Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene. Frontiers in genetics. 2022;13. (Квартиль издания - Q2)
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  • 5. Panchuk I, Kondrateva E, Demchenko A, Grigorieva O, Erofeeva A, Amelina E, Tabakov V, Orlova M, Voronina E, Pozhitnova V, Lavrov A. Generation of two induced pluripotent stem cell lines (RCMGi005-A/B) from human skin fibroblasts of a cystic fibrosis patient with homozygous F508del mutation in CFTR gene. Stem Cell Research. 2022 Oct 1;64:102896. (Квартиль издания - Q4)
    Download PDF 4.1 MB
  • 6. Kondrateva E, Panchuk I, Demchenko A, Grigorieva O, Zheglo D, Voronina E, Erofeeva A, Tabakov V, Orlova M, Lavrov A, Smirnikhina S. Generation of induced pluripotent stem cell line (RCMGi008-A) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/CFTRdele2. 3 mutations in CFTR gene. Stem Cell Research. 2022 Aug 1;63:102854.(Квартиль издания - Q4)
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  • 7. Anoshkin K, Zosen D, Karandasheva K, Untesco M, Volodin I, Alekseeva E, Parfenenkova A, Snegova E, Kim A, Dorofeeva M, Kutsev S. Pediatric chordoma associated with tuberous sclerosis complex: A rare case report with a thorough analysis of potential therapeutic molecular targets. Heliyon. 2022 Aug 1;8(8):e10291. (Квартиль издания - Q2)
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  • 8. Н. А. Скрябин, Д. И. Жигалина, В. А. Степанов. РОЛЬ СПЛАЙСИНГА В ПАТОГЕНЕЗЕ МОНОГЕННЫХ БОЛЕЗНЕЙ. ГЕНЕТИКА, 2022, том 58, No 10, с. 1155–1163 (Квартиль издания - Q4)
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  • 9. Л. В. Валихова, В. Н. Харьков, А. А. Зарубин, Н. А. Колесников, М. Г. Сваровская, И. Ю. Хитринская, О. В. Штыгашева, В. Г. Волков, В. А. Степанов. ГЕНЕТИЧЕСКАЯ ВЗАИМОСВЯЗЬ ЧУЛЫМСКИХ ТЮРКОВ С ХАКАСАМИ И КЕТАМИ ПО ДАННЫМ АУТОСОМНЫХ SNP И ГАПЛОГРУППАМ Y-ХРОМОСОМЫ. ГЕНЕТИКА, 2022, том 58, No 10, с. 1177–1184
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  • 10. Zhalsanova IZ, Ravzhaeva EG, Postrigan AE, Seitova GN, Zhigalina DI, Udalova VY, Danina MM, Kanivets IV, Skryabin NA. Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome. International Journal of Molecular Sciences. 2022 Sep 13;23(18):10606. (Квартиль издания - Q1)
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  • 11. А. Е. Постригань, Н. П. Бабушкина, Л. И. Свинцова, И. В. Плотникова, Н. А. Скрябин. КЛИНИКО-ГЕНЕТИЧЕСКИЕ ОСОБЕННОСТИ ВРОЖДЕННОГО СИНДРОМА УДЛИНЕННОГО ИНТЕРВАЛА QT. ГЕНЕТИКА, 2022, том 58, No 10, с. 1164–1176 (Квартиль издания - Q4)
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