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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.
Molecular states during acute COVID-19 reveal distinct etiologies of long-term sequelae.
Thompson RC, Simons NW, Wilkins L, Cheng E, Del Valle DM, Hoffman GE, Cervia C, Fennessy B, Mouskas K, Francoeur NJ, Johnson JS, Lepow L, Le Berichel J, Chang C, Beckmann AG, Wang YC, Nie K, Zaki N, Tuballes K, Barcessat V, Cedillo MA, Yuan D, Huckins L, Roussos P, Marron TU; Mount Sinai COVID-19 Biobank Team; Glicksberg BS, Nadkarni G, Heath JR, Gonzalez-Kozlova E, Boyman O, Kim-Schulze S, Sebra R, Merad M, Gnjatic S, Schadt EE, Charney AW, Beckmann ND. Thompson RC, et al. Nat Med. 2023 Jan;29(1):236-246. doi: 10.1038/s41591-022-02107-4. Epub 2022 Dec 8. Nat Med. 2023. PMID: 36482101 Free PMC article.
Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.
Petrazzini BO, Forrest IS, Rocheleau G, Vy HMT, Márquez-Luna C, Duffy Á, Chen R, Park JK, Gibson K, Goonewardena SN, Malick WA, Rosenson RS, Jordan DM, Do R. Petrazzini BO, et al. Among authors: jordan dm. Nat Genet. 2024 Jul;56(7):1412-1419. doi: 10.1038/s41588-024-01791-x. Epub 2024 Jun 11. Nat Genet. 2024. PMID: 38862854
86 results