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Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawiński P, Śladowski D, Nowis D, Ploski R. Materna-Kiryluk A, et al. Among authors: stawinski p. Hum Mol Genet. 2021 Apr 26;30(3-4):226-233. doi: 10.1093/hmg/ddab035. Hum Mol Genet. 2021. PMID: 33517393
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. Among authors: stawinski p. 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: stawinski p. Bioinformatics. 2015 May 1;31(9):1519-20. doi: 10.1093/bioinformatics/btv090. Epub 2015 Feb 13. Bioinformatics. 2015. PMID: 25682069 No abstract available.
Next-Generation Sequencing of 5' Untranslated Region of Hepatitis C Virus in Search of Minor Viral Variant in a Patient Who Revealed New Genotype While on Antiviral Treatment.
Caraballo Cortes K, Bukowska-Ośko I, Pawełczyk A, Perlejewski K, Płoski R, Lechowicz U, Stawiński P, Demkow U, Laskus T, Radkowski M. Caraballo Cortes K, et al. Among authors: stawinski p. Adv Exp Med Biol. 2016;885:11-23. doi: 10.1007/5584_2015_186. Adv Exp Med Biol. 2016. PMID: 26747069
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Mierzewska H, et al. Among authors: stawinski p. Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2. Clin Genet. 2017. PMID: 27102849
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. Among authors: stawinski p. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.
Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R. Lenk GM, et al. Among authors: stawinski p. Am J Hum Genet. 2016 Jul 7;99(1):188-94. doi: 10.1016/j.ajhg.2016.05.008. Epub 2016 Jun 9. Am J Hum Genet. 2016. PMID: 27292112 Free PMC article.
82 results