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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
Dawidziuk M, Kutkowska-Kaźmierczak A, Gawliński P, Wiszniewski W, Gos M, Stawiński P, Rydzanicz M, Kosińska J, Własienko P, Malinowska Kordowska O, Bartnik-Głaska M, Bernaciak J, Szczałuba K, Bekiesińska-Figatowska M, Płoski R, Bal J, Olimpia Rzońca-Niewczas S. Dawidziuk M, et al. Among authors: ploski r. J Mother Child. 2021 Apr 30;24(3):32-36. doi: 10.34763/jmotherandchild.20202403.2021.d-20-00003. J Mother Child. 2021. PMID: 33930262 Free PMC article.
Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?
Ploski R, Pollak A, Müller S, Franaszczyk M, Michalak E, Kosinska J, Stawinski P, Spiewak M, Seggewiss H, Bilinska ZT. Ploski R, et al. Circ Res. 2014 Jan 17;114(2):e2-5. doi: 10.1161/CIRCRESAHA.114.302662. Circ Res. 2014. PMID: 24436435
A cautionary note on using binary calls for analysis of DNA methylation.
Prochenka A, Pokarowski P, Gasperowicz P, Kosińska J, Stawiński P, Zbieć-Piekarska R, Spólnicka M, Branicki W, Płoski R. Prochenka A, et al. Among authors: ploski r. Bioinformatics. 2015 May 1;31(9):1519-20. doi: 10.1093/bioinformatics/btv090. Epub 2015 Feb 13. Bioinformatics. 2015. PMID: 25682069 No abstract available.
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
Truszkowska GT, Bilińska ZT, Kosińska J, Śleszycka J, Rydzanicz M, Sobieszczańska-Małek M, Franaszczyk M, Bilińska M, Stawiński P, Michalak E, Małek ŁA, Chmielewski P, Foss-Nieradko B, Machnicki MM, Stokłosa T, Ponińska J, Szumowski Ł, Grzybowski J, Piwoński J, Drygas W, Zieliński T, Płoski R. Truszkowska GT, et al. Among authors: ploski r. BMC Med Genet. 2015 Apr 3;16:21. doi: 10.1186/s12881-015-0167-0. BMC Med Genet. 2015. PMID: 25928149 Free PMC article.
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K, Ołdak M, Giza A, Kutkowska-Kaźmierczak A, Sota J, Przybylska D, Woźniak K, Śniegórska D, Niepokój K, Sobczyńska-Tomaszewska A, Rygiel AM, Płoski R, Bal J, Kowalewski C. Wertheim-Tysarowska K, et al. Among authors: ploski r. J Appl Genet. 2016 May;57(2):175-81. doi: 10.1007/s13353-015-0310-9. Epub 2015 Oct 2. J Appl Genet. 2016. PMID: 26432462 Free PMC article.
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