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Accurate fetal variant calling in the presence of maternal cell contamination.
Nabieva E, Sharma SM, Kapushev Y, Garushyants SK, Fedotova AV, Moskalenko VN, Serebrenikova TE, Glazyrina E, Kanivets IV, Pyankov DV, Neretina TV, Logacheva MD, Bazykin GA, Yarotsky D. Nabieva E, et al. Eur J Hum Genet. 2020 Nov;28(11):1615-1623. doi: 10.1038/s41431-020-0697-6. Epub 2020 Jul 29. Eur J Hum Genet. 2020. PMID: 32728107 Free PMC article.
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.
Vasilyeva TA, Marakhonov AV, Minzhenkova ME, Markova ZG, Petrova NV, Sukhanova NV, Koshkin PA, Pyankov DV, Kanivets IV, Korostelev SA, Krynskaya IA, Shilova NV, Kutsev SI, Kadyshev VV, Zinchenko RA. Vasilyeva TA, et al. Among authors: kanivets iv. BMC Med Genomics. 2020 Sep 18;13(Suppl 8):130. doi: 10.1186/s12920-020-00790-1. BMC Med Genomics. 2020. PMID: 32948199 Free PMC article.
Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
Sparber P, Krylova T, Repina S, Demina N, Rudenskaya G, Sharkova I, Sharkov A, Kadyshev V, Kanivets I, Korostelev S, Pomerantseva E, Kaimonov V, Mikhailova S, Zakharova E, Skoblov M. Sparber P, et al. Among authors: kanivets i. Parkinsonism Relat Disord. 2021 Mar;84:98-104. doi: 10.1016/j.parkreldis.2021.02.002. Epub 2021 Feb 9. Parkinsonism Relat Disord. 2021. PMID: 33607528
Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease.
Solis GP, Kozhanova TV, Koval A, Zhilina SS, Mescheryakova TI, Abramov AA, Ishmuratov EV, Bolshakova ES, Osipova KV, Ayvazyan SO, Lebon S, Kanivets IV, Pyankov DV, Troccaz S, Silachev DN, Zavadenko NN, Prityko AG, Katanaev VL. Solis GP, et al. Among authors: kanivets iv. Cells. 2021 Oct 14;10(10):2749. doi: 10.3390/cells10102749. Cells. 2021. PMID: 34685729 Free PMC article.
28 results