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Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, Chang K, Laurie C, Burugula BB, Gibson CJ, Lin AE, Taub MA, Aguet F, Ardlie K, Mitchell BD, Barnes KC, Moscati A, Fornage M, Redline S, Psaty BM, Silverman EK, Weiss ST, Palmer ND, Vasan RS, Burchard EG, Kardia SLR, He J, Kaplan RC, Smith NL, Arnett DK, Schwartz DA, Correa A, de Andrade M, Guo X, Konkle BA, Custer B, Peralta JM, Gui H, Meyers DA, McGarvey ST, Chen IY, Shoemaker MB, Peyser PA, Broome JG, Gogarten SM, Wang FF, Wong Q, Montasser ME, Daya M, Kenny EE, North KE, Launer LJ, Cade BE, Bis JC, Cho MH, Lasky-Su J, Bowden DW, Cupples LA, Mak ACY, Becker LC, Smith JA, Kelly TN, Aslibekyan S, Heckbert SR, Tiwari HK, Yang IV, Heit JA, Lubitz SA, Johnsen JM, Curran JE, Wenzel SE, Weeks DE, Rao DC, Darbar D, Moon JY, Tracy RP, Buth EJ, Rafaels N, Loos RJF, Durda P, Liu Y, Hou L, Lee J, Kachroo P, Freedman BI, Levy D, Bielak LF, Hixson JE, Floyd JS, Whitsel EA, Ellinor PT, Irvin MR, Fingerlin TE, Raffield LM, Armasu SM, Wheeler MM, Sabino EC, Blangero J, Williams LK, Levy BD, Sheu WH, Roden DM, Boerwinkle E, Manson JE, Mathias RA, Desai P, Taylor KD, Johnson AD; NHLBI Tran… See abstract for full author list ➔ Bick AG, et al. Nature. 2020 Oct;586(7831):763-768. doi: 10.1038/s41586-020-2819-2. Epub 2020 Oct 14. Nature. 2020. PMID: 33057201 Free PMC article.
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox NJ, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Jorgenson E, Kenny EE, Kessler MD, Levy D, Li Y, Lima JAC, Liu Y, Locke AE, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito JM, Mychaleckyj JC, North KE, Orchard P, Parker SCJ, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S; Regeneron Genetics Center; Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub MA, Tiwari HK, Tracy R, Tuftin B; NHLBI Trans-Omics for Precision Medicine Consortium; Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL. Jakubek YA, et al. Am J Hum Genet. 2025 Feb 6;112(2):276-290. doi: 10.1016/j.ajhg.2024.12.014. Epub 2025 Jan 13. Am J Hum Genet. 2025. PMID: 39809269 Free PMC article.
Proteogenomic analysis integrated with electronic health records data reveals disease-associated variants in Black Americans.
Tahir UA, Barber JL, Cruz DE, Kars ME, Deng S, Tuftin B, Gillman MG, Benson MD, Robbins JM, Chen ZZ, Rao P, Katz DH, Farrell L, Sofer T, Hall ME, Ekunwe L, Tracy RP, Durda P, Taylor KD, Liu Y, Johnson WC, Guo X, Chen YI, Manichaikul AW, Jain D; NHLBI Trans-Omics for Precision Medicine Consortium; Wang TJ, Reiner AP, Natarajan P, Itan Y, Rich SS, Rotter JI, Wilson JG, Raffield LM, Gerszten RE. Tahir UA, et al. J Clin Invest. 2024 Sep 24;134(21):e181802. doi: 10.1172/JCI181802. J Clin Invest. 2024. PMID: 39316441 Free PMC article.
Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.
Polfus LM, Raffield LM, Wheeler MM, Tracy RP, Lange LA, Lettre G, Miller A, Correa A, Bowler RP, Bis JC, Salimi S, Jenny NS, Pankratz N, Wang B, Preuss MH, Zhou L, Moscati A, Nadkarni GN, Loos RJF, Zhong X, Li B, Johnsen JM, Nickerson DA, Reiner AP, Auer PL; NHLBI Trans-Omics for Precision Medicine Consortium. Polfus LM, et al. Hum Mol Genet. 2019 Feb 1;28(3):515-523. doi: 10.1093/hmg/ddy360. Hum Mol Genet. 2019. PMID: 30307499 Free PMC article.
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, Chang K, Laurie C, Burugula BB, Gibson CJ, Niroula A, Lin AE, Taub MA, Aguet F, Ardlie K, Mitchell BD, Barnes KC, Moscati A, Fornage M, Redline S, Psaty BM, Silverman EK, Weiss ST, Palmer ND, Vasan RS, Burchard EG, Kardia SLR, He J, Kaplan RC, Smith NL, Arnett DK, Schwartz DA, Correa A, de Andrade M, Guo X, Konkle BA, Custer B, Peralta JM, Gui H, Meyers DA, McGarvey ST, Chen IY, Shoemaker MB, Peyser PA, Broome JG, Gogarten SM, Wang FF, Wong Q, Montasser ME, Daya M, Kenny EE, North KE, Launer LJ, Cade BE, Bis JC, Cho MH, Lasky-Su J, Bowden DW, Cupples LA, Mak ACY, Becker LC, Smith JA, Kelly TN, Aslibekyan S, Heckbert SR, Tiwari HK, Yang IV, Heit JA, Lubitz SA, Johnsen JM, Curran JE, Wenzel SE, Weeks DE, Rao DC, Darbar D, Moon JY, Tracy RP, Buth EJ, Rafaels N, Loos RJF, Durda P, Liu Y, Hou L, Lee J, Kachroo P, Freedman BI, Levy D, Bielak LF, Hixson JE, Floyd JS, Whitsel EA, Ellinor PT, Irvin MR, Fingerlin TE, Raffield LM, Armasu SM, Wheeler MM, Sabino EC, Blangero J, Williams LK, Levy BD, Sheu WH, Roden DM, Boerwinkle E, Manson JE, Mathias RA, Desai P, Taylor KD, Johnson AD;… See abstract for full author list ➔ Bick AG, et al. Nature. 2021 Mar;591(7851):E27. doi: 10.1038/s41586-021-03280-1. Nature. 2021. PMID: 33707633 No abstract available.
A common TCN1 loss-of-function variant is associated with lower vitamin B12 concentration in African Americans.
Hu Y, Raffield LM, Polfus LM, Moscati A, Nadkarni G, Preuss MH, Zhong X, Wei Q, Rich SS, Li Y, Wilson JG, Correa A, Loos RJF, Li B, Auer PL, Reiner AP; NHLBI Trans-Omics for Precision Medicine Consortium. Hu Y, et al. Blood. 2018 Jun 21;131(25):2859-2863. doi: 10.1182/blood-2018-03-841023. Epub 2018 May 15. Blood. 2018. PMID: 29764838 Free PMC article. No abstract available.