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Page 1
A catalog of associations between rare coding variants and COVID-19 outcomes.
Kosmicki JA, Horowitz JE, Banerjee N, Lanche R, Marcketta A, Maxwell E, Bai X, Sun D, Backman JD, Sharma D, Kang HM, O'Dushlaine C, Yadav A, Mansfield AJ, Li AH, Watanabe K, Gurski L, McCarthy SE, Locke AE, Khalid S, O'Keeffe S, Mbatchou J, Chazara O, Huang Y, Kvikstad E, O'Neill A, Nioi P, Parker MM, Petrovski S, Runz H, Szustakowski JD, Wang Q, Wong E, Cordova-Palomera A, Smith EN, Szalma S, Zheng X, Esmaeeli S, Davis JW, Lai YP, Chen X, Justice AE, Leader JB, Mirshahi T, Carey DJ, Verma A, Sirugo G, Ritchie MD, Rader DJ, Povysil G, Goldstein DB, Kiryluk K, Pairo-Castineira E, Rawlik K, Pasko D, Walker S, Meynert A, Kousathanas A, Moutsianas L, Tenesa A, Caulfield M, Scott R, Wilson JF, Baillie JK, Butler-Laporte G, Nakanishi T, Lathrop M, Richards JB; Regeneron Genetics Center; UKB Exome Sequencing Consortium; Jones M, Balasubramanian S, Salerno W, Shuldiner AR, Marchini J, Overton JD, Habegger L, Cantor MN, Reid JG, Baras A, Abecasis GR, Ferreira MA. Kosmicki JA, et al. Among authors: kiryluk k. medRxiv [Preprint]. 2021 Feb 27:2020.10.28.20221804. doi: 10.1101/2020.10.28.20221804. medRxiv. 2021. PMID: 33655273 Free PMC article. Preprint.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
Integration of spatial multiplexed protein imaging and transcriptomics in the human kidney tracks the regenerative potential timeline of proximal tubules.
Asghari M, Sabo AR, Barwinska D, Ferreira RM, Ferkowicz M, Bowen WS, Cheng YH, Gisch DL, Gulbronson C, Phillips CL, Kelly KJ, Sutton TA, Williams JC, Vazquez M, O'Toole J, Palevsky P, Rosas SE, Waikar SS, Kiryluk K, Parikh C, Hodgins J, Sarder P, De Boer IH, Himmelfarb J, Kretzler M; Kidney Precision Medicine Project; Jain S, Eadon MT, Winfree S, El-Achkar TM, Dagher PC. Asghari M, et al. Among authors: kiryluk k. bioRxiv [Preprint]. 2024 Dec 2:2024.11.26.625544. doi: 10.1101/2024.11.26.625544. bioRxiv. 2024. PMID: 39677736 Free PMC article. Preprint.
GWAS highlights the neuronal contribution to multiple sclerosis susceptibility.
Zeng L, Atlas K, Lama T; International Multiple Sclerosis Genetics Consortium; Chitnis T, Weiner H, Wang G, Fujita M, Zipp F, Taga M, Kiryluk K, De Jager PL. Zeng L, et al. Among authors: kiryluk k. medRxiv [Preprint]. 2024 Dec 5:2024.12.04.24318500. doi: 10.1101/2024.12.04.24318500. medRxiv. 2024. PMID: 39677438 Free PMC article. Preprint.
Genome-wide studies define new genetic mechanisms of IgA vasculitis.
Liu L, Zhu L, Monteiro-Martins S, Griffin A, Vlahos LJ, Fujita M, Berrouet C, Zanoni F, Marasa M, Zhang JY, Zhou XJ, Caliskan Y, Akchurin O, Al-Akash S, Jankauskiene A, Bodria M, Chishti A, Esposito C, Esposito V, Claes D, Tesar V, Davis TK, Samsonov D, Kaminska D, Hryszko T, Zaza G, Flynn JT, Iorember F, Lugani F, Rizk D, Julian BA, Hidalgo G, Kallash M, Biancone L, Amoroso A, Bono L, Mani LY, Vogt B, Lin F, Sreedharan R, Weng P, Ranch D, Xiao N, Quiroga A, Matar RB, Rheault MN, Wenderfer S, Selewski D, Lundberg S, Silva C, Mason S, Mahan JD, Vasylyeva TL, Mucha K, Foroncewicz B, Pączek L, Florczak M, Olszewska M, Gradzińska A, Szczepańska M, Machura E, Badeński A, Krakowczyk H, Sikora P, Kwella N, Miklaszewska M, Drożdż D, Zaniew M, Pawlaczyk K, SiniewiczLuzeńczyk K, Bomback AS, Appel GB, Izzi C, Scolari F, Materna-Kiryluk A, Mizerska-Wasiak M, Berthelot L, Pillebout E, Monteiro RC, Novak J, Green TJ, Smoyer WE, Hastings MC, Wyatt RJ, Nelson R, Martin J, González-Gay MA, De Jager PL, Köttgen A, Califano A, Gharavi AG, Zhang H, Kiryluk K. Liu L, et al. Among authors: kiryluk k. medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315041. doi: 10.1101/2024.10.10.24315041. medRxiv. 2024. PMID: 39417133 Free PMC article. Preprint.
Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.
Wooden B, Beenken A, Martinelli E, Saida K, Knob AL, Ke J, Pisani I, Jin G, Lane B, Mitrotti A, Colby E, Lim TY, Guglielmi F, Osborne AJ, Ahram DF, Wang C, Armand F, Zanoni F, Bomback AS, Delsante M, Appel GB, Ferrari MRA, Martino J, Sahdeo S, Breckenridge D, Petrovski S, Paul DS, Hall G, Magistroni R, Murtas C, Feriozzi S, Rampino T, Esposito P, Helmuth ME, Sampson MG, Kretzler M, Kiryluk K, Shril S, Gesualdo L, Maggiore U, Fiaccadori E, Gbadegesin R, Santoriello D, D'Agati VD, Saleem MA, Gharavi AG, Hildebrandt F, Pollak MR, Goldstein DB, Sanna-Cherchi S. Wooden B, et al. Among authors: kiryluk k. J Am Soc Nephrol. 2024 Oct 1. doi: 10.1681/ASN.0000000501. Online ahead of print. J Am Soc Nephrol. 2024. PMID: 39352759 No abstract available.
226 results