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Better safe than sorry-Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19.
Słomian D, Szyda J, Dobosz P, Stojak J, Michalska-Foryszewska A, Sypniewski M, Liu J, Kotlarz K, Suchocki T, Mroczek M, Stępień M, Sztromwasser P, Król ZJ. Słomian D, et al. Among authors: sztromwasser p. PLoS One. 2023 Jan 20;18(1):e0279356. doi: 10.1371/journal.pone.0279356. eCollection 2023. PLoS One. 2023. PMID: 36662838 Free PMC article.
The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.
Mroczek M, Liu J, Sypniewski M, Pieńkowski T, Itrych B, Stojak J, Pronobis-Szczylik B, Stępień M, Kaja E, Dąbrowski M, Suchocki T, Wojtaszewska M, Zawadzki P, Mach A, Sztromwasser P, Król ZJ, Szyda J, Dobosz P. Mroczek M, et al. Among authors: sztromwasser p. Front Oncol. 2023 Feb 10;13:1045817. doi: 10.3389/fonc.2023.1045817. eCollection 2023. Front Oncol. 2023. PMID: 36845707 Free PMC article.
Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature.
Szczawińska-Popłonyk A, Popłonyk N, Niedziela M, Sowińska-Seidler A, Sztromwasser P, Jamsheer A, Obara-Moszyńska M. Szczawińska-Popłonyk A, et al. Among authors: sztromwasser p. Front Pediatr. 2022 Oct 14;10:990111. doi: 10.3389/fped.2022.990111. eCollection 2022. Front Pediatr. 2022. PMID: 36313893 Free PMC article.
Clinical and laboratory diversity of diffuse large B-cell lymphomas in children with Nijmegen breakage syndrome.
Pastorczak A, Szmyd B, Braun M, Madzio J, Wypyszczak K, Sztromwasser P, Fendler W, Wojtaszewska M, Chrzanowski J, Grajkowska W, Gregorek H, Wakulinska A, Kazanowska B, Krenova Z, Weijers DD, Kuiper RP, Mlynarski W. Pastorczak A, et al. Among authors: sztromwasser p. Haematologica. 2023 Oct 1;108(10):2808-2813. doi: 10.3324/haematol.2022.282325. Haematologica. 2023. PMID: 37021541 Free PMC article. No abstract available.
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies.
Kaja E, Lejman A, Sielski D, Sypniewski M, Gambin T, Dawidziuk M, Suchocki T, Golik P, Wojtaszewska M, Mroczek M, Stępień M, Szyda J, Lisiak-Teodorczyk K, Wolbach F, Kołodziejska D, Ferdyn K, Dąbrowski M, Woźna A, Żytkiewicz M, Bodora-Troińska A, Elikowski W, Król ZJ, Zaczyński A, Pawlak A, Gil R, Wierzba W, Dobosz P, Zawadzka K, Zawadzki P, Sztromwasser P. Kaja E, et al. Among authors: sztromwasser p. Int J Mol Sci. 2022 Apr 20;23(9):4532. doi: 10.3390/ijms23094532. Int J Mol Sci. 2022. PMID: 35562925 Free PMC article.
Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach.
Wojtaszewska M, Stępień R, Woźna A, Piernik M, Sztromwasser P, Dąbrowski M, Gniot M, Szymański S, Socha M, Kasprzak P, Matkowski R, Zawadzki P. Wojtaszewska M, et al. Among authors: sztromwasser p. Mol Diagn Ther. 2022 Jan;26(1):105-116. doi: 10.1007/s40291-021-00571-1. Epub 2021 Dec 21. Mol Diagn Ther. 2022. PMID: 34932189 Free PMC article.
31 results