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SMARCA4 Loss Increases RNA Polymerase II Pausing and Elevates R-Loops to Inhibit BRCA1-Mediated Repair in Ovarian Cancer.
Zhu X, Fu Z, Aceto G, St-Germain J, Liu K, Arabzadeh A, Qi Y, Xue Y, Witkowski L, Graulich E, Steinberger J, Misirlioglu S, Bassani N, Sansal R, Yasmeen A, Morin G, Guo J, Monast A, Pilon V, Valachová A, Pavlakis K, Fu L, Gotlieb WH, McCluggage WG, Huntsman D, Bishop AJR, Levine DA, Park M, Wang Y, Raught B, Foulkes WD, Huang S. Zhu X, et al. Among authors: valachova a. Cancer Res. 2025 Aug 15;85(16):2997-3014. doi: 10.1158/0008-5472.CAN-24-3990. Cancer Res. 2025. PMID: 40366633
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.
Necpál J, Zech M, Valachová A, Sedláček Z, Bendová Š, Hančárová M, Okáľová K, Winkelmann J, Jech R. Necpál J, et al. Among authors: valachova a. Parkinsonism Relat Disord. 2020 Aug;77:87-88. doi: 10.1016/j.parkreldis.2020.06.028. Epub 2020 Jun 29. Parkinsonism Relat Disord. 2020. PMID: 32653842 No abstract available.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K. Fiordaliso SK, et al. Among authors: valachova a. Am J Hum Genet. 2019 Nov 7;105(5):987-995. doi: 10.1016/j.ajhg.2019.09.009. Epub 2019 Oct 3. Am J Hum Genet. 2019. PMID: 31587868 Free PMC article.