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2021 1
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Page 1
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, Gómez-Carballa A, Rivero-Calle I, Martinón-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultström M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A; COVID-19 Host Genetics Initiative; DeCOI Host Genetics Group; GEN-COVID Multicenter Study (Italy); Mount S… See abstract for full author list ➔ Butler-Laporte G, et al. Among authors: sypniewski m. PLoS Genet. 2022 Nov 3;18(11):e1010367. doi: 10.1371/journal.pgen.1010367. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36327219 Free PMC article.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B. Mroczek M, et al. Among authors: sypniewski m. Hum Mutat. 2022 Oct;43(10):1347-1353. doi: 10.1002/humu.24421. Epub 2022 Jun 22. Hum Mutat. 2022. PMID: 35731190
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: sypniewski m. Int J Mol Sci. 2022 Apr 20;23(9):4532. doi: 10.3390/ijms23094532. Int J Mol Sci. 2022. PMID: 35562925 Free PMC article.
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: sypniewski m. PLoS One. 2023 Jan 20;18(1):e0279356. doi: 10.1371/journal.pone.0279356. eCollection 2023. PLoS One. 2023. PMID: 36662838 Free PMC article.
Gene Variants Related to Cardiovascular and Pulmonary Diseases May Correlate with Severe Outcome of COVID-19.
Sypniewski M, Król ZJ, Szyda J, Kaja E, Mroczek M, Suchocki T, Lejman A, Stępień M, Topolski P, Dąbrowski M, Kotlarz K, Aplas A, Wasiak M, Wojtaszewska M, Zawadzki P, Pawlak A, Gil R, Dobosz P, Stojak J. Sypniewski M, et al. Int J Mol Sci. 2022 Aug 4;23(15):8696. doi: 10.3390/ijms23158696. Int J Mol Sci. 2022. PMID: 35955824 Free PMC article.
Genetic predisposition to differentiated thyroid cancer in the Polish population.
Borowczyk M, Sypniewski M, Szyda J, Braszka M, Ziemnicka K, Ruchała M, Oszywa M, Król ZJ, Dobosz P. Borowczyk M, et al. Among authors: sypniewski m. Pol Arch Intern Med. 2024 Mar 27;134(3):16654. doi: 10.20452/pamw.16654. Epub 2024 Jan 2. Pol Arch Intern Med. 2024. PMID: 38165228 Free 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: sypniewski m. Front Oncol. 2023 Feb 10;13:1045817. doi: 10.3389/fonc.2023.1045817. eCollection 2023. Front Oncol. 2023. PMID: 36845707 Free PMC article.
12 results