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Tolmacheva E.N., Kashevarova A.A., Fonova E.A., Salyukova O.A., Seitova G.N., Nazarenko L.P., Agafonova A.A., Minaycheva L.I., Ravzhaeva E.G., Petrova V.V., Lopatkina M.E., Belyaeva E.O., Fedotov D.A., Vasilyeva O.Y., Skryabin N.A., Lebedev I.N. Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders // Molecular Cytogenetics. 2025. 18(1):3. DOI: 10.1186/s13039-025-00703-w
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Drozdov G.V., Kashevarova A.A., Lebedev I.N. Copy number variation in spontaneous abortions: A meta-analysis // Journal of Assisted Reproduction and Genetics. 2025; 18:3. doi: 10.1007/s10815-025-03420-w.
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Tolmacheva E.N., Vasilyev S.A., Nikitina T.V., Lytkina E.S., Sazhenova E.A., Zhigalina D.I., Vasilyeva O.Yu., Markov A.V., Demeneva V.V., Tashireva L.A., Kashevarova A.A., Lebedev I.N. Identification of differentially methylated genes in first-trimester placentas with trisomy of chromosome 16 // Scientific Reports. 2022. Vol. 12, 1166. doi:10.1038/s41598-021-04107-9.
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Fonova E.A., Tolmacheva E.N., Kashevarova A.A., Sazhenova E.A., Nikitina T.V., Lopatkina M.E., Vasilieva O.Y., Zarubin A.A., Aleksandrova T.N., Yuriev S.Y., Stepanov V.A., Skryabin N.A., Lebedev I.N. Skewed X-Chromosome inactivation as a possible marker of X-linked CNV in women with pregnancy loss // Cytogenetic and Genome Research. 2022. P.1-12. doi:10.1159/000524342.
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Lebedev I.N., Karamysheva T.V., Elisaphenko E.A., Makunin A.I., Zhigalina D.I., Lopatkina M.E., Drozdov G.V., Cheremnykh A.D., Torkhova N.B., Seitova G.N., Vasilyev S.A., Kashevarova A.A., Nazarenko L.P., Rubtsov N.B. Prenatal diagnosis of small supernumerary marker chromosome 10 by array-based comparative genomic hybridization and microdissected chromosome sequencing // Biomedicines. 2021. V. 9 № 8. P. e1030. doi: 10.3390/biomedicines9081030.
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Nikitina T.V., Kashevarova A.A., Gridina M.M., Lopatkina M.E., Khabarova A.A., Yakovleva Yu.S., Menzorov A.G., Minina Yu.A., Pristyazhnyuk I.E., Vasilyev S.A., Fedotov D.A., Serov O.L., Lebedev I.N. Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming // Scientific Reports. 2021. № 11. P. e4325. doi:10.1038/s41598-021-83399-3.
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Vasilyev S.A., Skryabin N.A., Kashevarova A.A., Tolmacheva E.N., Savchenko R.R., Vasilyeva O.Yu., Lopatkina M.E., Zarubin A.A., Fishman V.S., Belyaeva E.O., Filippova M.O., Shorina A.R., Maslennikov A.B., Shestovskikh O.L., Gayner T.A., Čulić V., Vulić R., Nazarenko L.P., Lebedev I.N. Differential DNA methylation of IMMP2L gene in families with maternally inherited 7q31.1 deletions associated with intellectual disability and developmental delay // Cytogenetic and genome research. 2021. V. 161. № 3-4. P. 105-119. doi: 10.1159/000514491.
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Kashevarova A.A., Nikitina T.V., Mikhailik L.I., Belyaeva E.O., Vasilyev S.A., Lopatkina M.E., Fedotov D.A., Fonova E.A.., Zarubin A.A., Sivtsev A.A., Skryabin N.A., Nazarenko L.P., Lebedev I.N. 46,XY,r(8)/45,XY,-8 mosaicism as a possible mechanism of the imprinted Birk-Barel syndrome: A case study // Genes. 2020. V. 11(9). P. e1473. doi.org/10.3390/genes11121473.
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Tolmacheva E.N., Kashevarova A.A., Nazarenko L.P., Minaycheva L.I., Skryabin N.A., Lopatkina M.E., Nikitina T.V., Sazhenova E.A., Belyaeva E.O., Fonova E.A., Salyukova O.A., Tarabykin V.S., Lebedev I.N. Delineation of clinical manifestations of the inherited Xq24 microdeletion segregating with skewed X-chromosome inactivation in mothers: two novel cases with distinct phenotypes ranging from UBE2A intellectual deficiency syndrome to recurrent pregnancy loss // Cytogenetic and Genome Research. 2020. V. 160. № 5. P. 245-254. doi: 10.1159/000508050.
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Kashevarova AA, Belyaeva EO, Nikonov AM, Plotnikova OV, Skryabin NA, Nikitina TV, Vasilyev SA, Yakovleva YS, Babushkina NP, Tolmacheva EN, Lopatkina ME, Savchenko RR, Nazarenko LP, Lebedev IN. Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 // Molecular Cytogenetics. 2018. doi: 10.1186/s13039-018-0375-3.
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Kashevarova AA, Nazarenko LP, Skryabin NA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Lopatkina ME, Salyukova OA, Chechetkina NN, Vorotelyak EA, Kalabusheva EP, Fishman VS, Kzhyshkowska J, Graziano C, Magini P, Romeo G, Lebedev IN. A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability // American Journal of Medical Genetics. Part A. 2018. doi: 10.1002/ajmg.a.40478.
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Gridina MM, Matveeva NM, Fishman VS, Menzorov AG, Kizilova HA, Beregovoy NA, Kovrigin II, Pristyazhnyuk IE, Oscorbin IP, Filipenko ML, Kashevarova AA, Skryabin NA, Nikitina TV, Sazhenova EA, Nazarenko LP, Lebedev IN, Serov OL. Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene // Molecular Neurobiology. 2018 Aug;55(8):6533-6546. doi: 10.1007/s12035-017-0851-5.
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Lebedev I.N., Nazarenko L.P., Skrayabin N.A., Babushkina N.P., Kashevarova A.A. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, development delay, and absence of speech // American Journal of Medical Genetics. Part A. 2016. V. 170A. № 8. P. 2089-2096. doi: 10.1002/ajmg.a.37754.
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Kashevarova AA, Nazarenko LP, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Sazhenova EA, Magini P, Graziano C, Romeo G, Kučinskas V, Lebedev IN. Array CGH analysis of a cohort of Russian patients with intellectual disability. Gene. 2014; 536(1):145-50. doi: 10.1016/j.gene.2013.11.029.
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Kashevarova A.A., Nazarenko L.P., Schultz-Pedersen S. et al. Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability // Molecular Cytogenetics. 2014. 7(1):391. doi: 10.1186/s13039-014-0097-0.