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Page 1
Point-of-Care Technologies for Precision Cardiovascular Care and Clinical Research: National Heart, Lung, and Blood Institute Working Group.
King K, Grazette LP, Paltoo DN, McDevitt JT, Sia SK, Barrett PM, Apple FS, Gurbel PA, Weissleder R, Leeds H, Iturriaga EJ, Rao A, Adhikari B, Desvigne-Nickens P, Galis ZS, Libby P. King K, et al. Among authors: paltoo dn. JACC Basic Transl Sci. 2016 Jan-Feb;1(1-2):73-86. doi: 10.1016/j.jacbts.2016.01.008. JACC Basic Transl Sci. 2016. PMID: 26977455 Free PMC article.
Cardiovascular pharmacogenomics: current status and future directions-report of a national heart, lung, and blood institute working group.
Musunuru K, Roden DM, Boineau R, Bristow MR, McCaffrey TA, Newton-Cheh C, Paltoo DN, Rosenberg Y, Wohlgemuth JG, Zineh I, Hasan AA. Musunuru K, et al. Among authors: paltoo dn. J Am Heart Assoc. 2012 Apr;1(2):e000554. doi: 10.1161/JAHA.111.000554. Epub 2012 Apr 24. J Am Heart Assoc. 2012. PMID: 23130127 Free PMC article. No abstract available.
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Kim C, Milewicz DM. Guo DC, et al. Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910461 Free PMC article.
Genetic simulation tools for post-genome wide association studies of complex diseases.
Chen HS, Hutter CM, Mechanic LE, Amos CI, Bafna V, Hauser ER, Hernandez RD, Li C, Liberles DA, McAllister K, Moore JH, Paltoo DN, Papanicolaou GJ, Peng B, Ritchie MD, Rosenfeld G, Witte JS, Gillanders EM, Feuer EJ. Chen HS, et al. Among authors: paltoo dn. Genet Epidemiol. 2015 Jan;39(1):11-19. doi: 10.1002/gepi.21870. Epub 2014 Nov 4. Genet Epidemiol. 2015. PMID: 25371374 Free PMC article.
Data use under the NIH GWAS data sharing policy and future directions.
Paltoo DN, Rodriguez LL, Feolo M, Gillanders E, Ramos EM, Rutter JL, Sherry S, Wang VO, Bailey A, Baker R, Caulder M, Harris EL, Langlais K, Leeds H, Luetkemeier E, Paine T, Roomian T, Tryka K, Patterson A, Green ED; National Institutes of Health Genomic Data Sharing Governance Committees. Paltoo DN, et al. Nat Genet. 2014 Sep;46(9):934-8. doi: 10.1038/ng.3062. Nat Genet. 2014. PMID: 25162809 Free PMC article.
Candidate gene association resource (CARe): design, methods, and proof of concept.
Musunuru K, Lettre G, Young T, Farlow DN, Pirruccello JP, Ejebe KG, Keating BJ, Yang Q, Chen MH, Lapchyk N, Crenshaw A, Ziaugra L, Rachupka A, Benjamin EJ, Cupples LA, Fornage M, Fox ER, Heckbert SR, Hirschhorn JN, Newton-Cheh C, Nizzari MM, Paltoo DN, Papanicolaou GJ, Patel SR, Psaty BM, Rader DJ, Redline S, Rich SS, Rotter JI, Taylor HA Jr, Tracy RP, Vasan RS, Wilson JG, Kathiresan S, Fabsitz RR, Boerwinkle E, Gabriel SB; NHLBI Candidate Gene Association Resource. Musunuru K, et al. Among authors: paltoo dn. Circ Cardiovasc Genet. 2010 Jun;3(3):267-75. doi: 10.1161/CIRCGENETICS.109.882696. Epub 2010 Apr 17. Circ Cardiovasc Genet. 2010. PMID: 20400780 Free PMC article.
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project; Jondeau G, Milewicz DM. Boileau C, et al. Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348. Nat Genet. 2012. PMID: 22772371 Free PMC article.
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team. Norton N, et al. Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15. Circ Cardiovasc Genet. 2013. PMID: 23418287 Free PMC article.
Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.
Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, Ioannidis JP, Peters U, Robinson JG, Sucheston LE, Wang D, Sotoodehnia N, Rotter JI, Psaty BM, Jackson RD, Herrington DM, O'Donnell CJ, Reiner AP, Rich SS, Rieder MJ, Bamshad MJ, Nickerson DA; NHLBI GO Exome Sequencing Project. Gordon AS, et al. Hum Mol Genet. 2014 Apr 15;23(8):1957-63. doi: 10.1093/hmg/ddt588. Epub 2013 Nov 26. Hum Mol Genet. 2014. PMID: 24282029 Free PMC article.
Rare loss of function variants in candidate genes and risk of colorectal cancer.
Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, Nassir R, Vickers KT, Li C, Grady WM, Peters U, Jarvik GP; NHLBI GO Exome Sequencing Project. Rosenthal EA, et al. Hum Genet. 2018 Oct;137(10):795-806. doi: 10.1007/s00439-018-1938-4. Epub 2018 Sep 28. Hum Genet. 2018. PMID: 30267214 Free PMC article. Clinical Trial.
37 results