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Page 1
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.
Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin AS, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand SA, Brancale J, Vilarinho S, Lundegaard PR, Sørensen E, Erikstrup C, Bruun MT, Jensen BA, Brunak S, Banasik K, Ullum H; DBDS Genomic Consortium; Verweij N, Lotta L, Baras A; Regeneron Genetics Center; Mirshahi T, Carey DJ; Geisinger-Regeneron DiscovEHR Collaboration; VA Million Veteran Program; Kaplan DE, Lynch J, Morgan T, Schwantes-An TH, Dochtermann DR, Pyarajan S, Tsao PS; Estonian Biobank Research Team; Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton KU, Nadauld L, Ferkingstad E, Björnsson ES, Ulfarsson MO, Sturluson Á, Sulem P, Pedersen OB, Ostrowski SR, Gudbjartsson DF, Stefansson K, Olesen MS, Chang KM, Holm H, Bundgaard H, Stender S. Ghouse J, et al. Among authors: carey dj. Nat Genet. 2024 May;56(5):827-837. doi: 10.1038/s41588-024-01720-y. Epub 2024 Apr 17. Nat Genet. 2024. PMID: 38632349 Free PMC article.
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Rajagopal VM, Watanabe K, Mbatchou J, Ayer A, Quon P, Sharma D, Kessler MD, Praveen K, Gelfman S, Parikshak N, Otto JM, Bao S, Chim SM, Pavlopoulos E, Avbersek A, Kapoor M, Chen E, Jones MB, Leblanc M, Emberson J, Collins R, Torres J, Morales PK, Tapia-Conyer R, Alegre J, Berumen J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Shuldiner AR, Balasubramanian S, Abecasis GR, Kang HM, Marchini J, Stahl EA, Jorgenson E, Sanchez R, Liedtke W, Anderson M, Cantor M, Lederer D, Baras A, Coppola G. Rajagopal VM, et al. Nat Genet. 2023 Jul;55(7):1138-1148. doi: 10.1038/s41588-023-01417-8. Epub 2023 Jun 12. Nat Genet. 2023. PMID: 37308787 Free PMC article.
Pharmacologic and Genetic Downregulation of Proprotein Convertase Subtilisin/Kexin Type 9 and Survival From Sepsis.
Lawler PR, Manvelian G, Coppi A, Damask A, Cantor MN, Ferreira MAR, Paulding C, Banerjee N, Li D, Jorgensen S, Attre R, Carey DJ, Krebs K, Milani L, Hveem K, Damås JK, Solligård E, Stender S, Tybjærg-Hansen A, Nordestgaard BG, Hernandez-Beeftink T, Rogne T, Flores C, Villar J, Walley KR, Liu VX, Fohner AE, Lotta LA, Kyratsous CA, Sleeman MW, Scemama M, DelGizzi R, Pordy R, Horowitz JE, Baras A, Martin GS, Steg PG, Schwartz GG, Szarek M, Goodman SG. Lawler PR, et al. Among authors: carey dj. Crit Care Explor. 2023 Nov 8;5(11):e0997. doi: 10.1097/CCE.0000000000000997. eCollection 2023 Nov. Crit Care Explor. 2023. PMID: 37954898 Free PMC article.
Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis.
Loginovic P, Wang F, Li J, Ferrat L, Mirshahi UL, Rao HS, Petzold A, Tyrrell J, Green HD, Weedon MN, Ganna A, Tuomi T, Carey DJ; UKBB Eye & Vision Consortium; FinnGen; Geisinger-Regeneron DiscovEHR Collaboration; Oram RA, Braithwaite T. Loginovic P, et al. Among authors: carey dj. Nat Commun. 2024 Feb 28;15(1):1415. doi: 10.1038/s41467-024-44917-9. Nat Commun. 2024. PMID: 38418465 Free PMC article.
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
de Andrade KC, Strande NT, Kim J, Haley JS, Hatton JN, Frone MN, Khincha PP, Thone GM, Mirshahi UL, Schneider C, Desai H, Dove JT, Smelser DT; Penn Medicine BioBank; Regeneron Genetics Center; Levine AJ, Maxwell KN, Stewart DR, Carey DJ, Savage SA. de Andrade KC, et al. Among authors: carey dj. HGG Adv. 2024 Jan 11;5(1):100242. doi: 10.1016/j.xhgg.2023.100242. Epub 2023 Sep 29. HGG Adv. 2024. PMID: 37777824 Free PMC article.
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Beck DB, et al. Among authors: carey dj. JAMA. 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. JAMA. 2023. PMID: 36692560 Free PMC article.
Development of a Polygenic Risk Score to Predict Diverticulitis.
Schaeffer HD, Smelser DT, Rao HS, Haley JS, Long KC, Slipak SH, Carey DJ, Hoffman RL. Schaeffer HD, et al. Among authors: carey dj. Dis Colon Rectum. 2024 Feb 1;67(2):254-263. doi: 10.1097/DCR.0000000000002943. Epub 2023 Oct 11. Dis Colon Rectum. 2024. PMID: 37844217
224 results