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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: ploski r. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Bayat A, Iavarone S, Miceli F, Jakobsen AV, Johannesen KM, Nikanorova M, Ploski R, Szymanska K, Flamini R, Cooper EC, Weckhuysen S, Taglialatela M, Møller RS. Bayat A, et al. Among authors: ploski r. Neurotherapeutics. 2024 Jan;21(1):e00296. doi: 10.1016/j.neurot.2023.10.006. Epub 2023 Dec 19. Neurotherapeutics. 2024. PMID: 38241158 Free PMC article.
Epigenetic Findings in Twins with Esophageal Atresia.
Błoch M, Gasperowicz P, Gerus S, Rasiewicz K, Lebioda A, Skiba P, Płoski R, Patkowski D, Karpiński P, Śmigiel R. Błoch M, et al. Among authors: ploski r. Genes (Basel). 2023 Sep 20;14(9):1822. doi: 10.3390/genes14091822. Genes (Basel). 2023. PMID: 37761962 Free PMC article.
Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities.
Biernacka EK, Osadnik T, Bilińska ZT, Krawczyński M, Latos-Bieleńska A, Łaczmańska I, Miszczak-Knecht M, Płoski R, Ponińska JK, Prejbisz A, Rubiś P, Rudnicka A, Szczałuba K, Szczygieł JA, Własienko P, Wołczenko A, Zienciuk-Krajka A, Ziółkowska L, Gil R. Biernacka EK, et al. Among authors: ploski r. Kardiol Pol. 2024 May 7. doi: 10.33963/v.phj.100490. Online ahead of print. Kardiol Pol. 2024. PMID: 38712785 Free article. No abstract available.
Clinical and genetic yield of familial screening after a sudden unexplained death at a young age.
Chmielewski P, Świerczewski M, Foss-Nieradko B, Ponińska J, Biernacka EK, Kowalik I, Stępień-Wojno M, Michalak E, Truszkowska G, Baranowski R, Bilińska M, Płoski R, Bilińska ZT. Chmielewski P, et al. Among authors: ploski r. Kardiol Pol. 2024;82(4):382-390. doi: 10.33963/v.phj.99617. Epub 2024 Mar 17. Kardiol Pol. 2024. PMID: 38493454 Free article.
475 results