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Page 1
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.
Gusarova V, O'Dushlaine C, Teslovich TM, Benotti PN, Mirshahi T, Gottesman O, Van Hout CV, Murray MF, Mahajan A, Nielsen JB, Fritsche L, Wulff AB, Gudbjartsson DF, Sjögren M, Emdin CA, Scott RA, Lee WJ, Small A, Kwee LC, Dwivedi OP, Prasad RB, Bruse S, Lopez AE, Penn J, Marcketta A, Leader JB, Still CD, Kirchner HL, Mirshahi UL, Wardeh AH, Hartle CM, Habegger L, Fetterolf SN, Tusie-Luna T, Morris AP, Holm H, Steinthorsdottir V, Sulem P, Thorsteinsdottir U, Rotter JI, Chuang LM, Damrauer S, Birtwell D, Brummett CM, Khera AV, Natarajan P, Orho-Melander M, Flannick J, Lotta LA, Willer CJ, Holmen OL, Ritchie MD, Ledbetter DH, Murphy AJ, Borecki IB, Reid JG, Overton JD, Hansson O, Groop L, Shah SH, Kraus WE, Rader DJ, Chen YI, Hveem K, Wareham NJ, Kathiresan S, Melander O, Stefansson K, Nordestgaard BG, Tybjærg-Hansen A, Abecasis GR, Altshuler D, Florez JC, Boehnke M, McCarthy MI, Yancopoulos GD, Carey DJ, Shuldiner AR, Baras A, Dewey FE, Gromada J. Gusarova V, et al. Among authors: birtwell d. Nat Commun. 2018 Jun 13;9(1):2252. doi: 10.1038/s41467-018-04611-z. Nat Commun. 2018. PMID: 29899519 Free PMC article.
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: birtwell d. 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.
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: birtwell d. 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.
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: birtwell d. 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.
Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney-specific pathways.
Bajaj A, Ihegword A, Qiu C, Small AM, Wei WQ, Bastarache L, Feng Q, Kember RL, Risman M, Bloom RD, Birtwell DL, Williams H, Shaffer CM, Chen J, Center RG, Denny JC, Rader DJ, Stein CM, Damrauer SM, Susztak K. Bajaj A, et al. Among authors: birtwell dl. Kidney Int. 2020 May;97(5):1032-1041. doi: 10.1016/j.kint.2020.01.027. Epub 2020 Feb 17. Kidney Int. 2020. PMID: 32247630 Free PMC article.
Text mining applied to electronic cardiovascular procedure reports to identify patients with trileaflet aortic stenosis and coronary artery disease.
Small AM, Kiss DH, Zlatsin Y, Birtwell DL, Williams H, Guerraty MA, Han Y, Anwaruddin S, Holmes JH, Chirinos JA, Wilensky RL, Giri J, Rader DJ. Small AM, et al. Among authors: birtwell dl. J Biomed Inform. 2017 Aug;72:77-84. doi: 10.1016/j.jbi.2017.06.016. Epub 2017 Jun 15. J Biomed Inform. 2017. PMID: 28624641 Free article.
Risk of Persistent Opioid Use following Major Surgery in Matched Samples of Patients with and without Cancer.
Falcone M, Luo C, Chen Y, Birtwell D, Cheatle M, Duan R, Gabriel PE, He L, Ko EM, Lenz HJ, Mirkovic N, Mowery DL, Ochroch EA, Paulson EC, Schriver E, Schnoll RA, Bekelman JE, Lerman C. Falcone M, et al. Among authors: birtwell d. Cancer Epidemiol Biomarkers Prev. 2020 Nov;29(11):2126-2133. doi: 10.1158/1055-9965.EPI-20-0628. Epub 2020 Aug 28. Cancer Epidemiol Biomarkers Prev. 2020. PMID: 32859580 Free PMC article.
A novel tool for standardizing clinical data in a semantically rich model.
Freedman HG, Williams H, Miller MA, Birtwell D, Mowery DL, Stoeckert CJ Jr. Freedman HG, et al. Among authors: birtwell d. J Biomed Inform. 2020;112S:100086. doi: 10.1016/j.yjbinx.2020.100086. Epub 2020 Sep 19. J Biomed Inform. 2020. PMID: 34417005 Free article.
OBIB-a novel ontology for biobanking.
Brochhausen M, Zheng J, Birtwell D, Williams H, Masci AM, Ellis HJ, Stoeckert CJ Jr. Brochhausen M, et al. Among authors: birtwell d. J Biomed Semantics. 2016 May 2;7:23. doi: 10.1186/s13326-016-0068-y. eCollection 2016. J Biomed Semantics. 2016. PMID: 27148435 Free PMC article.
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