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Items: 13

1.

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.

Circulation. 2019 Jul 2;140(1):42-54. doi: 10.1161/CIRCULATIONAHA.119.039573. Epub 2019 Jun 20.

PMID:
31216868
2.

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.

Choi SH, Weng LC, Roselli C, Lin H, Haggerty CM, Shoemaker MB, Barnard J, Arking DE, Chasman DI, Albert CM, Chaffin M, Tucker NR, Smith JD, Gupta N, Gabriel S, Margolin L, Shea MA, Shaffer CM, Yoneda ZT, Boerwinkle E, Smith NL, Silverman EK, Redline S, Vasan RS, Burchard EG, Gogarten SM, Laurie C, Blackwell TW, Abecasis G, Carey DJ, Fornwalt BK, Smelser DT, Baras A, Dewey FE, Jaquish CE, Papanicolaou GJ, Sotoodehnia N, Van Wagoner DR, Psaty BM, Kathiresan S, Darbar D, Alonso A, Heckbert SR, Chung MK, Roden DM, Benjamin EJ, Murray MF, Lunetta KL, Lubitz SA, Ellinor PT; DiscovEHR study and the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium.

JAMA. 2018 Dec 11;320(22):2354-2364. doi: 10.1001/jama.2018.18179.

3.

Genetic risk models: Influence of model size on risk estimates and precision.

Shan Y, Tromp G, Kuivaniemi H, Smelser DT, Verma SS, Ritchie MD, Elmore JR, Carey DJ, Conley YP, Gorin MB, Weeks DE.

Genet Epidemiol. 2017 May;41(4):282-296. doi: 10.1002/gepi.22035. Epub 2017 Feb 15.

4.

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.

Jones GT, Tromp G, Kuivaniemi H, Gretarsdottir S, Baas AF, Giusti B, Strauss E, Van't Hof FN, Webb TR, Erdman R, Ritchie MD, Elmore JR, Verma A, Pendergrass S, Kullo IJ, Ye Z, Peissig PL, Gottesman O, Verma SS, Malinowski J, Rasmussen-Torvik LJ, Borthwick KM, Smelser DT, Crosslin DR, de Andrade M, Ryer EJ, McCarty CA, Böttinger EP, Pacheco JA, Crawford DC, Carrell DS, Gerhard GS, Franklin DP, Carey DJ, Phillips VL, Williams MJ, Wei W, Blair R, Hill AA, Vasudevan TM, Lewis DR, Thomson IA, Krysa J, Hill GB, Roake J, Merriman TR, Oszkinis G, Galora S, Saracini C, Abbate R, Pulli R, Pratesi C, Saratzis A, Verissimo AR, Bumpstead S, Badger SA, Clough RE, Cockerill G, Hafez H, Scott DJ, Futers TS, Romaine SP, Bridge K, Griffin KJ, Bailey MA, Smith A, Thompson MM, van Bockxmeer FM, Matthiasson SE, Thorleifsson G, Thorsteinsdottir U, Blankensteijn JD, Teijink JA, Wijmenga C, de Graaf J, Kiemeney LA, Lindholt JS, Hughes A, Bradley DT, Stirrups K, Golledge J, Norman PE, Powell JT, Humphries SE, Hamby SE, Goodall AH, Nelson CP, Sakalihasan N, Courtois A, Ferrell RE, Eriksson P, Folkersen L, Franco-Cereceda A, Eicher JD, Johnson AD, Betsholtz C, Ruusalepp A, Franzén O, Schadt EE, Björkegren JL, Lipovich L, Drolet AM, Verhoeven EL, Zeebregts CJ, Geelkerken RH, van Sambeek MR, van Sterkenburg SM, de Vries JP, Stefansson K, Thompson JR, de Bakker PI, Deloukas P, Sayers RD, Harrison SC, van Rij AM, Samani NJ, Bown MJ.

Circ Res. 2017 Jan 20;120(2):341-353. doi: 10.1161/CIRCRESAHA.116.308765. Epub 2016 Nov 29.

5.

ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow.

Borthwick KM, Smelser DT, Bock JA, Elmore JR, Ryer EJ, Ye Z, Pacheco JA, Carrell DS, Michalkiewicz M, Thompson WK, Pathak J, Bielinski SJ, Denny JC, Linneman JG, Peissig PL, Kho AN, Gottesman O, Parmar H, Kullo IJ, McCarty CA, Böttinger EP, Larson EB, Jarvik GP, Harley JB, Bajwa T, Franklin DP, Carey DJ, Kuivaniemi H, Tromp G.

Int J Biomed Data Min. 2015 Dec;4(1). pii: 113. Epub 2015 Jul 30.

6.

The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.

Carey DJ, Fetterolf SN, Davis FD, Faucett WA, Kirchner HL, Mirshahi U, Murray MF, Smelser DT, Gerhard GS, Ledbetter DH.

Genet Med. 2016 Sep;18(9):906-13. doi: 10.1038/gim.2015.187. Epub 2016 Feb 11.

7.

Population risk factor estimates for abdominal aortic aneurysm from electronic medical records: a case control study.

Smelser DT, Tromp G, Elmore JR, Kuivaniemi H, Franklin DP, Kirchner HL, Carey DJ.

BMC Cardiovasc Disord. 2014 Dec 4;14:174. doi: 10.1186/1471-2261-14-174.

8.

Genetic-based prediction of disease traits: prediction is very difficult, especially about the future.

Schrodi SJ, Mukherjee S, Shan Y, Tromp G, Sninsky JJ, Callear AP, Carter TC, Ye Z, Haines JL, Brilliant MH, Crane PK, Smelser DT, Elston RC, Weeks DE.

Front Genet. 2014 Jun 2;5:162. doi: 10.3389/fgene.2014.00162. eCollection 2014. Review.

9.

Update on abdominal aortic aneurysm research: from clinical to genetic studies.

Kuivaniemi H, Ryer EJ, Elmore JR, Hinterseher I, Smelser DT, Tromp G.

Scientifica (Cairo). 2014;2014:564734. doi: 10.1155/2014/564734. Epub 2014 Apr 17. Review.

10.

Family members of patients with abdominal aortic aneurysms are at increased risk for aneurysms: analysis of 618 probands and their families from the Liège AAA Family Study.

Sakalihasan N, Defraigne JO, Kerstenne MA, Cheramy-Bien JP, Smelser DT, Tromp G, Kuivaniemi H.

Ann Vasc Surg. 2014 May;28(4):787-97. doi: 10.1016/j.avsg.2013.11.005. Epub 2013 Dec 21.

11.

The ACE I/D polymorphism in US adults: limited evidence of association with hypertension-related traits and sex-specific effects by race/ethnicity.

Ned RM, Yesupriya A, Imperatore G, Smelser DT, Moonesinghe R, Chang MH, Dowling NF.

Am J Hypertens. 2012 Feb;25(2):209-15. doi: 10.1038/ajh.2011.182. Epub 2011 Oct 13.

PMID:
21993364
12.

Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994.

Ned RM, Yesupriya A, Imperatore G, Smelser DT, Moonesinghe R, Chang MH, Dowling NF.

BMC Med Genet. 2010 Nov 5;11:155. doi: 10.1186/1471-2350-11-155.

13.

The effect of succimer therapy in lead intoxication using postural balance as a measure: a case study in a nine year old child.

Bhattacharya A, Smelser DT, Berger O, Shukla R, Medvedovic M.

Neurotoxicology. 1998 Feb;19(1):57-64.

PMID:
9498221

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