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Page 1
Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection.
Zekavat SM, Chou EL, Zekavat M, Pampana A, Paruchuri K, Lino Cardenas CL, Koyama S, Ghazzawi Y, Kii E, Uddin MM, Pirruccello J, Zhao H, Wood M, Natarajan P, Lindsay ME. Zekavat SM, et al. Among authors: pirruccello j. JAMA Cardiol. 2022 Apr 1;7(4):396-406. doi: 10.1001/jamacardio.2022.0001. JAMA Cardiol. 2022. PMID: 35234813 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.
Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women.
Honigberg MC, Zekavat SM, Niroula A, Griffin GK, Bick AG, Pirruccello JP, Nakao T, Whitsel EA, Farland LV, Laurie C, Kooperberg C, Manson JE, Gabriel S, Libby P, Reiner AP, Ebert BL; NHLBI Trans-Omics for Precision Medicine Program; Natarajan P. Honigberg MC, et al. Circulation. 2021 Feb 2;143(5):410-423. doi: 10.1161/CIRCULATIONAHA.120.051775. Epub 2020 Nov 9. Circulation. 2021. PMID: 33161765 Free PMC article.
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.
Natarajan P, Zekavat S, Lin SH, Bick A, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello J, Pampana A, Loh PR, Kohli P, McCarroll S, Neale B, Engels E, Brown D, Smoller J, Green R, Karlson E, Lebo M, Ellinor P, Weiss S, Daly M, Terao C, Zhao H, Ebert B, Machiela M, Genovese G. Natarajan P, et al. Among authors: pirruccello j. Res Sq [Preprint]. 2020 Nov 16:rs.3.rs-100817. doi: 10.21203/rs.3.rs-100817/v1. Res Sq. 2020. Update in: Nat Med. 2021 Jun;27(6):1012-1024. doi: 10.1038/s41591-021-01371-0 PMID: 33236004 Free PMC article. Updated. Preprint.
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Neale B, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium; Terao C, Zhao H, Ebert BL; COVID-19 Host Genetics Initiative; Ganna A, Machiela MJ, Genovese G, Natarajan P. Zekavat SM, et al. Among authors: pirruccello jp. medRxiv [Preprint]. 2020 Nov 16:2020.11.12.20230821. doi: 10.1101/2020.11.12.20230821. medRxiv. 2020. PMID: 33236019 Free PMC article. Preprint.
95 results