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Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.
Franaszczyk M, Truszkowska G, Chmielewski P, Rydzanicz M, Kosinska J, Rywik T, Biernacka A, Spiewak M, Kostrzewa G, Stepien-Wojno M, Stawinski P, Bilinska M, Krajewski P, Zielinski T, Lutynska A, Bilinska ZT, Ploski R. Franaszczyk M, et al. Among authors: biernacka a. J Clin Med. 2020 Jan 29;9(2):370. doi: 10.3390/jcm9020370. J Clin Med. 2020. PMID: 32013205 Free PMC article.
Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
Jezela-Stanek A, Walczak A, Łaźniewski M, Kosińska J, Stawiński P, Murcia Pienkowski V, Biernacka A, Rydzanicz M, Kostrzewa G, Krajewski P, Plewczyński D, Płoski R. Jezela-Stanek A, et al. Among authors: biernacka a. Clin Genet. 2019 Jun;95(6):736-738. doi: 10.1111/cge.13534. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30920656 No abstract available.
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
Śmigiel R, Biela M, Szmyd K, Błoch M, Szmida E, Skiba P, Walczak A, Gasperowicz P, Kosińska J, Rydzanicz M, Stawiński P, Biernacka A, Zielińska M, Gołębiowski W, Jalowska A, Ohia G, Głowska B, Walas W, Królak-Olejnik B, Krajewski P, Sykut-Cegielska J, Sąsiadek MM, Płoski R. Śmigiel R, et al. Among authors: biernacka a. J Clin Med. 2020 Jul 13;9(7):2220. doi: 10.3390/jcm9072220. J Clin Med. 2020. PMID: 32668698 Free PMC article.
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Pilch J, Koppolu AA, Walczak A, Murcia Pienkowski VA, Biernacka A, Skiba P, Machnik-Broncel J, Gasperowicz P, Kosińska J, Rydzanicz M, Emich-Widera E, Płoski R. Pilch J, et al. Among authors: biernacka a. Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2. Clin Genet. 2018. PMID: 29938792
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.
Szczałuba K, Chmielewska JJ, Sokolowska O, Rydzanicz M, Szymańska K, Feleszko W, Włodarski P, Biernacka A, Murcia Pienkowski V, Walczak A, Bargeł E, Królewczyk K, Nowacka A, Stawiński P, Nowis D, Dziembowska M, Płoski R. Szczałuba K, et al. Among authors: biernacka a. Clin Genet. 2018 Dec;94(6):581-585. doi: 10.1111/cge.13450. Epub 2018 Oct 11. Clin Genet. 2018. PMID: 30238967
Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.
Matuszewska KE, Badura-Stronka M, Śmigiel R, Cabała M, Biernacka A, Kosinska J, Rydzanicz M, Winczewska-Wiktor A, Sasiadek M, Latos-Bieleńska A, Żemojtel T, Płoski R. Matuszewska KE, et al. Among authors: biernacka a. Clin Dysmorphol. 2018 Apr;27(2):49-52. doi: 10.1097/MCD.0000000000000212. Clin Dysmorphol. 2018. PMID: 29389715 No abstract available.
76 results