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Page 1
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; NHL… See abstract for full author list ➔ Bick AG, et al. Among authors: moscati a. 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.
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. Among authors: moscati a. 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.
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. Among authors: moscati a. Hum Mol Genet. 2019 Feb 1;28(3):515-523. doi: 10.1093/hmg/ddy360. Hum Mol Genet. 2019. PMID: 30307499 Free PMC article.
Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity.
Dallner OS, Marinis JM, Lu YH, Birsoy K, Werner E, Fayzikhodjaeva G, Dill BD, Molina H, Moscati A, Kutalik Z, Marques-Vidal P, Kilpeläinen TO, Grarup N, Linneberg A, Zhang Y, Vaughan R, Loos RJF, Lazar MA, Friedman JM. Dallner OS, et al. Among authors: moscati a. Nat Med. 2019 Mar;25(3):507-516. doi: 10.1038/s41591-019-0370-1. Epub 2019 Mar 6. Nat Med. 2019. PMID: 30842678
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn NS, Soper ER, Odgis JA, Cullina S, Bobo D, Moscati A, Rodriguez JE; CBIPM Genomics Team; Regeneron Genetics Center; Loos RJF, Cho JH, Belbin GM, Suckiel SA, Kenny EE. Abul-Husn NS, et al. Among authors: moscati a. Genome Med. 2019 Dec 31;12(1):2. doi: 10.1186/s13073-019-0691-1. Genome Med. 2019. PMID: 31892343 Free PMC article.
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.
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Li X, Li Z, Zhou H, Gaynor SM, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Aslibekyan S, Ballantyne CM, Bielak LF, Blangero J, Boerwinkle E, Bowden DW, Broome JG, Conomos MP, Correa A, Cupples LA, Curran JE, Freedman BI, Guo X, Hindy G, Irvin MR, Kardia SLR, Kathiresan S, Khan AT, Kooperberg CL, Laurie CC, Liu XS, Mahaney MC, Manichaikul AW, Martin LW, Mathias RA, McGarvey ST, Mitchell BD, Montasser ME, Moore JE, Morrison AC, O'Connell JR, Palmer ND, Pampana A, Peralta JM, Peyser PA, Psaty BM, Redline S, Rice KM, Rich SS, Smith JA, Tiwari HK, Tsai MY, Vasan RS, Wang FF, Weeks DE, Weng Z, Wilson JG, Yanek LR; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Neale BM, Sunyaev SR, Abecasis GR, Rotter JI, Willer CJ, Peloso GM, Natarajan P, Lin X. Li X, et al. Nat Genet. 2020 Sep;52(9):969-983. doi: 10.1038/s41588-020-0676-4. Epub 2020 Aug 24. Nat Genet. 2020. PMID: 32839606 Free PMC article.
73 results