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Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
Single cell variant to enhancer to gene map for coronary artery disease.
Amrute JM, Lee PC, Eres I, Lee CJM, Bredemeyer A, Sheth MU, Yamawaki T, Gurung R, Anene-Nzelu C, Qiu WL, Kundu S, Li DY, Ramste M, Lu D, Tan A, Kang CJ, Wagoner RE, Alisio A, Cheng P, Zhao Q, Miller CL, Hall IM, Gupta RM, Hsu YH, Haldar SM, Lavine KJ, Jackson S, Andersson R, Engreitz JM, Foo RS, Li CM, Ason B, Quertermous T, Stitziel NO. Amrute JM, et al. Among authors: stitziel no. medRxiv [Preprint]. 2024 Nov 13:2024.11.13.24317257. doi: 10.1101/2024.11.13.24317257. medRxiv. 2024. PMID: 39606421 Free PMC article. Preprint.
Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT Jr, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS; National Heart, Lung, and Blood Institute Exome Sequencing Project. Auer PL, et al. JAMA Neurol. 2015 Jul;72(7):781-8. doi: 10.1001/jamaneurol.2015.0582. JAMA Neurol. 2015. PMID: 25961151 Free PMC article.
Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Guo MH, et al. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. Nat Genet. 2024. PMID: 38057443 Free PMC article.
A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664 Free PMC article.
Targeting immune-fibroblast cell communication in heart failure.
Amrute JM, Luo X, Penna V, Yang S, Yamawaki T, Hayat S, Bredemeyer A, Jung IH, Kadyrov FF, Heo GS, Venkatesan R, Shi SY, Parvathaneni A, Koenig AL, Kuppe C, Baker C, Luehmann H, Jones C, Kopecky B, Zeng X, Bleckwehl T, Ma P, Lee P, Terada Y, Fu A, Furtado M, Kreisel D, Kovacs A, Stitziel NO, Jackson S, Li CM, Liu Y, Rosenthal NA, Kramann R, Ason B, Lavine KJ. Amrute JM, et al. Among authors: stitziel no. Nature. 2024 Nov;635(8038):423-433. doi: 10.1038/s41586-024-08008-5. Epub 2024 Oct 23. Nature. 2024. PMID: 39443792
A Paradigm For Calling Sequence In Families: The Long Life Family Study.
Daw EW, Anema JA, Schwander K, Lin SJ, Wang L, Wojczynski M, Thyagarajan B, Stitziel N, Province MA. Daw EW, et al. bioRxiv [Preprint]. 2024 May 24:2024.05.23.595584. doi: 10.1101/2024.05.23.595584. bioRxiv. 2024. PMID: 38826248 Free PMC article. Preprint.
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.
Lee VS, Halabi CM, Hoffman EP, Carmichael N, Leshchiner I, Lian CG, Bierhals AJ, Vuzman D; Brigham Genomic Medicine; Mecham RP, Frank NY, Stitziel NO. Lee VS, et al. Among authors: stitziel no. Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):8759-64. doi: 10.1073/pnas.1601442113. Epub 2016 Jul 18. Proc Natl Acad Sci U S A. 2016. PMID: 27432961 Free PMC article.
SVEP1 is a human coronary artery disease locus that promotes atherosclerosis.
Jung IH, Elenbaas JS, Alisio A, Santana K, Young EP, Kang CJ, Kachroo P, Lavine KJ, Razani B, Mecham RP, Stitziel NO. Jung IH, et al. Among authors: stitziel no. Sci Transl Med. 2021 Mar 24;13(586):eabe0357. doi: 10.1126/scitranslmed.abe0357. Sci Transl Med. 2021. PMID: 33762433 Free PMC article.
115 results