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Page 1
Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate.
Mack TM, Raddatz MA, Pershad Y, Nachun DC, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Kenny EE, Loos RJF, Redline S, Cade BE, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Cho MH, DeMeo DL, Levy D, Johnson AD, Mathias RA, Yanek LR, Heckbert SR, Smith NL, Wiggins KL, Raffield LM, Carson AP, Rotter JI, Rich SS, Manichaikul AW, Gu CC, Chen YI, Lee WJ, Shoemaker MB, Roden DM, Kooperberg C, Auer PL, Desai P, Blackwell TW, Smith AV, Reiner AP, Jaiswal S, Weinstock JS, Bick AG. Mack TM, et al. Among authors: mathias ra. Nat Aging. 2024 Aug;4(8):1043-1052. doi: 10.1038/s43587-024-00647-7. Epub 2024 Jun 4. Nat Aging. 2024. PMID: 38834882
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
Kraja AT, Vaidya D, Pankow JS, Goodarzi MO, Assimes TL, Kullo IJ, Sovio U, Mathias RA, Sun YV, Franceschini N, Absher D, Li G, Zhang Q, Feitosa MF, Glazer NL, Haritunians T, Hartikainen AL, Knowles JW, North KE, Iribarren C, Kral B, Yanek L, O'Reilly PF, McCarthy MI, Jaquish C, Couper DJ, Chakravarti A, Psaty BM, Becker LC, Province MA, Boerwinkle E, Quertermous T, Palotie L, Jarvelin MR, Becker DM, Kardia SL, Rotter JI, Chen YD, Borecki IB. Kraja AT, et al. Among authors: mathias ra. Diabetes. 2011 Apr;60(4):1329-39. doi: 10.2337/db10-1011. Epub 2011 Mar 8. Diabetes. 2011. PMID: 21386085 Free PMC article.
Recombination rates in admixed individuals identified by ancestry-based inference.
Wegmann D, Kessner DE, Veeramah KR, Mathias RA, Nicolae DL, Yanek LR, Sun YV, Torgerson DG, Rafaels N, Mosley T, Becker LC, Ruczinski I, Beaty TH, Kardia SL, Meyers DA, Barnes KC, Becker DM, Freimer NB, Novembre J. Wegmann D, et al. Among authors: mathias ra. Nat Genet. 2011 Jul 20;43(9):847-53. doi: 10.1038/ng.894. Nat Genet. 2011. PMID: 21775992 Free PMC article.
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO; Gibson RL, Bamshad MJ. Emond MJ, et al. Among authors: mathias ra. Nat Genet. 2012 Jul 8;44(8):886-9. doi: 10.1038/ng.2344. Nat Genet. 2012. PMID: 22772370 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.
Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.
Hansel NN, Ruczinski I, Rafaels N, Sin DD, Daley D, Malinina A, Huang L, Sandford A, Murray T, Kim Y, Vergara C, Heckbert SR, Psaty BM, Li G, Elliott WM, Aminuddin F, Dupuis J, O'Connor GT, Doheny K, Scott AF, Boezen HM, Postma DS, Smolonska J, Zanen P, Mohamed Hoesein FA, de Koning HJ, Crystal RG, Tanaka T, Ferrucci L, Silverman E, Wan E, Vestbo J, Lomas DA, Connett J, Wise RA, Neptune ER, Mathias RA, Paré PD, Beaty TH, Barnes KC. Hansel NN, et al. Among authors: mathias ra. Hum Genet. 2013 Jan;132(1):79-90. doi: 10.1007/s00439-012-1219-6. Epub 2012 Sep 18. Hum Genet. 2013. PMID: 22986903 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.
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Johnsen JM, Auer PL, Morrison AC, Jiao S, Wei P, Haessler J, Fox K, McGee SR, Smith JD, Carlson CS, Smith N, Boerwinkle E, Kooperberg C, Nickerson DA, Rich SS, Green D, Peters U, Cushman M, Reiner AP; NHLBI Exome Sequencing Project. Johnsen JM, et al. Blood. 2013 Jul 25;122(4):590-7. doi: 10.1182/blood-2013-02-485094. Epub 2013 May 20. Blood. 2013. PMID: 23690449 Free PMC article.
Fine-scale patterns of population stratification confound rare variant association tests.
O'Connor TD, Kiezun A, Bamshad M, Rich SS, Smith JD, Turner E; NHLBIGO Exome Sequencing Project; ESP Population Genetics, Statistical Analysis Working Group; Leal SM, Akey JM. O'Connor TD, et al. PLoS One. 2013 Jul 4;8(7):e65834. doi: 10.1371/journal.pone.0065834. Print 2013. PLoS One. 2013. PMID: 23861739 Free PMC article.
272 results