| Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability AA Kashevarova, LP Nazarenko, S Schultz-Pedersen, NA Skryabin, ... Molecular Cytogenetics 7, 1-10, 2014 | 104 | 2014 |
| Array CGH analysis of a cohort of Russian patients with intellectual disability AA Kashevarova, LP Nazarenko, NA Skryabin, OA Salyukova, ... Gene 536 (1), 145-150, 2014 | 68 | 2014 |
| Comparative cytogenetic analysis of spontaneous abortions in recurrent and sporadic pregnancy losses TV Nikitina, EA Sazhenova, EN Tolmacheva, NN Sukhanova, ... Biomedicine hub 1 (1), 1-11, 2016 | 47 | 2016 |
| 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 MM Gridina, NM Matveeva, VS Fishman, AG Menzorov, HA Kizilova, ... Molecular Neurobiology 55, 6533-6546, 2018 | 32 | 2018 |
| Germline mosaicism does not explain the maternal age effect on trisomy R Rowsey, A Kashevarova, B Murdoch, C Dickenson, T Woodruff, ... American Journal of Medical Genetics Part A 161 (10), 2495-2503, 2013 | 30 | 2013 |
| Complex biology of constitutional ring chromosomes structure and (in) stability revealed by somatic cell reprogramming TV Nikitina, AA Kashevarova, MM Gridina, ME Lopatkina, AA Khabarova, ... Scientific reports 11 (1), 4325, 2021 | 24 | 2021 |
| Compound phenotype in a girl with r (22), concomitant microdeletion 22q13. 32-q13. 33 and mosaic monosomy 22 AA Kashevarova, EO Belyaeva, AM Nikonov, OV Plotnikova, NA Skryabin, ... Molecular Cytogenetics 11, 1-9, 2018 | 22 | 2018 |
| A de novo microtriplication at 4q21. 21‐q21. 22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech IN Lebedev, LP Nazarenko, NA Skryabin, NP Babushkina, ... American Journal of Medical Genetics Part A 170 (8), 2089-2096, 2016 | 18 | 2016 |
| Differential DNA methylation of the IMMP2L gene in families with maternally inherited 7q31. 1 microdeletions is associated with intellectual disability and developmental delay SA Vasilyev, NA Skryabin, AA Kashevarova, EN Tolmacheva, ... Cytogenetic and Genome Research 161 (3-4), 105-119, 2021 | 17 | 2021 |
| A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability AA Kashevarova, LP Nazarenko, NA Skryabin, TV Nikitina, SA Vasilyev, ... American Journal of Medical Genetics Part A 176 (11), 2395-2403, 2018 | 17 | 2018 |
| Epigenetic effects of trisomy 16 in human placenta EN Tolmacheva, AA Kashevarova, NA Skryabin, IN Lebedev Molecular biology 47, 373-381, 2013 | 17 | 2013 |
| Delineation of clinical manifestations of the inherited Xq24 microdeletion segregating with sXCI in mothers: two novel cases with distinct phenotypes ranging from UBE2A … EN Tolmacheva, AA Kashevarova, LP Nazarenko, LI Minaycheva, ... Cytogenetic and Genome Research 160 (5), 245-254, 2020 | 16 | 2020 |
| LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy SA Vasilyev, EN Tolmacheva, OY Vasilyeva, AV Markov, DI Zhigalina, ... Journal of Assisted Reproduction and Genetics 38, 139-149, 2021 | 14 | 2021 |
| Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13 TV Nikitina, AG Menzorov, AA Kashevarova, MM Gridina, AA Khabarova, ... Stem Cell Research 33, 260-264, 2018 | 14 | 2018 |
| Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22 TV Nikitina, AG Menzorov, AA Kashevarova, MM Gridina, AA Khabarova, ... Stem Cell Research 31, 244-248, 2018 | 12 | 2018 |
| Epigenetic inactivation of the RB1 gene as a factor of genomic instability: A possible contribution to etiology of chromosomal mosaicism during human embryo … EN Tolmacheva, AA Kashevarova, NN Sukhanova, EA Sazhenova, ... Russian journal of genetics 44, 1266-1271, 2008 | 9 | 2008 |
| Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss R Essers, IN Lebedev, A Kurg, EA Fonova, SJC Stevens, RM Koeck, ... Nature Medicine 29 (12), 3233-3242, 2023 | 8 | 2023 |
| Identification of differentially methylated genes in first-trimester placentas with trisomy 16 EN Tolmacheva, SA Vasilyev, TV Nikitina, ES Lytkina, EA Sazhenova, ... Scientific Reports 12 (1), 1166, 2022 | 8 | 2022 |
| Prenatal diagnosis of small supernumerary marker chromosome 10 by array-based comparative genomic hybridization and microdissected chromosome sequencing IN Lebedev, TV Karamysheva, EA Elisaphenko, AI Makunin, DI Zhigalina, ... Biomedicines 9 (08), 1030, 2021 | 8 | 2021 |
| DNA methylation profile in human placental tissues EN Tolmacheva, AA Kashevarova, NA Skryabin, IN Lebedev Molecular Biology 45, 493-499, 2011 | 7 | 2011 |
