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WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J, Tolmacheva E, Maslennikov D, Kochetkova T, Mukosey I, Sadelov I, Goltsov A, Barkov I, Ekimov A, Rogacheva M, Stupko O, Pavlova N, Kuznetsova M, Dokshukina A, Vasiliev G, Bolshakova A, Kovalskaia V, Korovko A, Pomerantseva E, Tsabai P, Buyanovskaya O, Zaretskaya N, Karetnikova N, Grebenshchikova E, Degtyareva A, Bokerija E, Kholin A, Rebrikov D, Degtyarev D, Trofimov D, Sukhih G. Shubina J, et al. Among authors: stupko o. HGG Adv. 2024 Oct 10;5(4):100334. doi: 10.1016/j.xhgg.2024.100334. Epub 2024 Jul 19. HGG Adv. 2024. PMID: 39033325 Free PMC article.
In silico size selection is effective in reducing false positive NIPS cases of monosomy X that are due to maternal mosaic monosomy X.
Shubina J, Trofimov DY, Barkov IY, Stupko OK, Goltsov AY, Mukosey IS, Tetruashvili NK, Kim LV, Bakharev VA, Karetnikova NA, Kochetkova TO, Krasheninnikova RV, Bystritskiy AA, Sukhikh GT. Shubina J, et al. Among authors: stupko ok. Prenat Diagn. 2017 Dec;37(13):1305-1310. doi: 10.1002/pd.5178. Prenat Diagn. 2017. PMID: 29110322
[Abdominal pregnancy].
Stupko OI, Drin' MM. Stupko OI, et al. Pediatr Akus Ginekol. 1967;6:61-2. Pediatr Akus Ginekol. 1967. PMID: 5603471 Ukrainian. No abstract available.