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Page 1
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
Park J, Lucas AM, Zhang X, Chaudhary K, Cho JH, Nadkarni G, Dobbyn A, Chittoor G, Josyula NS, Katz N, Breeyear JH, Ahmadmehrabi S, Drivas TG, Chavali VRM, Fasolino M, Sawada H, Daugherty A, Li Y, Zhang C, Bradford Y, Weaver J, Verma A, Judy RL, Kember RL, Overton JD, Reid JG, Ferreira MAR, Li AH, Baras A, LeMaire SA, Shen YH, Naji A, Kaestner KH, Vahedi G, Edwards TL, Chen J, Damrauer SM, Justice AE, Do R, Ritchie MD, Rader DJ. Park J, et al. Among authors: judy rl. Nat Med. 2021 Jan;27(1):66-72. doi: 10.1038/s41591-020-1133-8. Epub 2021 Jan 11. Nat Med. 2021. PMID: 33432171 Free PMC article.
Genomic Risk Stratification Predicts All-Cause Mortality After Cardiac Catheterization.
Levin MG, Kember RL, Judy R, Birtwell D, Williams H, Arany Z, Giri J, Guerraty M, Cappola T; Regeneron Genetics Center; Chen J, Rader DJ, Damrauer SM. Levin MG, et al. Among authors: judy r. Circ Genom Precis Med. 2018 Nov;11(11):e002352. doi: 10.1161/CIRCGEN.118.002352. Circ Genom Precis Med. 2018. PMID: 30571185 Free PMC article.
FBN1 Coding Variants and Nonsyndromic Aortic Disease.
Damrauer SM, Hardie K, Kember RL, Judy R, Birtwell D, Williams H, Rader DJ, Pyeritz RE. Damrauer SM, et al. Among authors: judy r. Circ Genom Precis Med. 2019 Jun;12(6):e002454. doi: 10.1161/CIRCGEN.119.002454. Epub 2019 Jun 18. Circ Genom Precis Med. 2019. PMID: 31211626 Free PMC article. No abstract available.
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.
Haggerty CM, Damrauer SM, Levin MG, Birtwell D, Carey DJ, Golden AM, Hartzel DN, Hu Y, Judy R, Kelly MA, Kember RL, Lester Kirchner H, Leader JB, Liang L, McDermott-Roe C, Babu A, Morley M, Nealy Z, Person TN, Pulenthiran A, Small A, Smelser DT, Stahl RC, Sturm AC, Williams H, Baras A, Margulies KB, Cappola TP, Dewey FE, Verma A, Zhang X, Correa A, Hall ME, Wilson JG, Ritchie MD, Rader DJ, Murray MF, Fornwalt BK, Arany Z. Haggerty CM, et al. Among authors: judy r. Circulation. 2019 Jul 2;140(1):42-54. doi: 10.1161/CIRCULATIONAHA.119.039573. Epub 2019 Jun 20. Circulation. 2019. PMID: 31216868 Free PMC article.
Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.
Klarin D, Busenkell E, Judy R, Lynch J, Levin M, Haessler J, Aragam K, Chaffin M, Haas M, Lindström S, Assimes TL, Huang J, Min Lee K, Shao Q, Huffman JE, Kabrhel C, Huang Y, Sun YV, Vujkovic M, Saleheen D, Miller DR, Reaven P, DuVall S, Boden WE, Pyarajan S, Reiner AP, Trégouët DA, Henke P, Kooperberg C, Gaziano JM, Concato J, Rader DJ, Cho K, Chang KM, Wilson PWF, Smith NL, O'Donnell CJ, Tsao PS, Kathiresan S, Obi A, Damrauer SM, Natarajan P; INVENT Consortium; Veterans Affairs’ Million Veteran Program. Klarin D, et al. Nat Genet. 2019 Nov;51(11):1574-1579. doi: 10.1038/s41588-019-0519-3. Epub 2019 Nov 1. Nat Genet. 2019. PMID: 31676865 Free PMC article.
Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.
Damrauer SM, Chaudhary K, Cho JH, Liang LW, Argulian E, Chan L, Dobbyn A, Guerraty MA, Judy R, Kay J, Kember RL, Levin MG, Saha A, Van Vleck T, Verma SS, Weaver J, Abul-Husn NS, Baras A, Chirinos JA, Drachman B, Kenny EE, Loos RJF, Narula J, Overton J, Reid J, Ritchie M, Sirugo G, Nadkarni G, Rader DJ, Do R. Damrauer SM, et al. Among authors: judy r. JAMA. 2019 Dec 10;322(22):2191-2202. doi: 10.1001/jama.2019.17935. JAMA. 2019. PMID: 31821430 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.
Genetically Determined Birthweight Associates With Atrial Fibrillation: A Mendelian Randomization Study.
Kember RL, Levin MG, Cousminer DL, Tsao N, Judy R, Schur GM, Lubitz SA, Ellinor PT, McCormack SE, Grant SFA; Regeneron Genetics Center; Rader DJ, Voight BF, Damrauer SM. Kember RL, et al. Among authors: judy r. Circ Genom Precis Med. 2020 Jun;13(3):e002553. doi: 10.1161/CIRCGEN.119.002553. Epub 2020 Apr 27. Circ Genom Precis Med. 2020. PMID: 32340472 Free PMC article.
Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease.
Aragam KG, Dobbyn A, Judy R, Chaffin M, Chaudhary K, Hindy G, Cagan A, Finneran P, Weng LC, Loos RJF, Nadkarni G, Cho JH, Kember RL, Baras A, Reid J, Overton J, Philippakis A, Ellinor PT, Weiss ST, Rader DJ, Lubitz SA, Smoller JW, Karlson EW, Khera AV, Kathiresan S, Do R, Damrauer SM, Natarajan P. Aragam KG, et al. Among authors: judy r. J Am Coll Cardiol. 2020 Jun 9;75(22):2769-2780. doi: 10.1016/j.jacc.2020.04.027. J Am Coll Cardiol. 2020. PMID: 32498804 Free PMC article.
49 results