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Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease.
Li AH, Morrison AC, Kovar C, Cupples LA, Brody JA, Polfus LM, Yu B, Metcalf G, Muzny D, Veeraraghavan N, Liu X, Lumley T, Mosley TH, Gibbs RA, Boerwinkle E. Li AH, et al. Among authors: veeraraghavan n. Nat Genet. 2015 Jun;47(6):640-2. doi: 10.1038/ng.3270. Epub 2015 Apr 27. Nat Genet. 2015. PMID: 25915599 Free PMC article.
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease.
Yu B, Li AH, Muzny D, Veeraraghavan N, de Vries PS, Bis JC, Musani SK, Alexander D, Morrison AC, Franco OH, Uitterlinden A, Hofman A, Dehghan A, Wilson JG, Psaty BM, Gibbs R, Wei P, Boerwinkle E. Yu B, et al. Among authors: veeraraghavan n. Circ Cardiovasc Genet. 2015 Apr;8(2):351-5. doi: 10.1161/CIRCGENETICS.114.000697. Epub 2015 Jan 8. Circ Cardiovasc Genet. 2015. PMID: 25575548 Free PMC article. Clinical Trial.
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.
Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Walter K, Chen L, Yanek L, Becker LC, Peloso GM, Wakabayashi A, Kals M, Metspalu A, Esko T, Fox K, Wallace R, Franceschini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen LP, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, Lettre G, van Duijn CM, Franco OH, Rich SS, Rivadeneira F, Hofman A, Uitterlinden AG, Wilson JG, Psaty BM, Soranzo N, Dehghan A, Boerwinkle E, Zhang X, Johnson AD, O'Donnell CJ, Johnsen JM, Reiner AP, Ganesh SK, Sankaran VG. Polfus LM, et al. Among authors: veeraraghavan n. Am J Hum Genet. 2016 Aug 4;99(2):481-8. doi: 10.1016/j.ajhg.2016.06.016. Am J Hum Genet. 2016. PMID: 27486782 Free PMC article.
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.
Yu B, Pulit SL, Hwang SJ, Brody JA, Amin N, Auer PL, Bis JC, Boerwinkle E, Burke GL, Chakravarti A, Correa A, Dreisbach AW, Franco OH, Ehret GB, Franceschini N, Hofman A, Lin DY, Metcalf GA, Musani SK, Muzny D, Palmas W, Raffel L, Reiner A, Rice K, Rotter JI, Veeraraghavan N, Fox E, Guo X, North KE, Gibbs RA, van Duijn CM, Psaty BM, Levy D, Newton-Cheh C, Morrison AC; CHARGE Consortium and the National Heart, Lung, and Blood Institute GO ESP*. Yu B, et al. Among authors: veeraraghavan n. Circ Cardiovasc Genet. 2016 Feb;9(1):64-70. doi: 10.1161/CIRCGENETICS.115.001215. Epub 2015 Dec 11. Circ Cardiovasc Genet. 2016. PMID: 26658788 Free PMC article.
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Campbell IM, Gambin T, Jhangiani S, Grove ML, Veeraraghavan N, Muzny DM, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Campbell IM, et al. Among authors: veeraraghavan n. Hum Mutat. 2016 Mar;37(3):231-234. doi: 10.1002/humu.22944. Epub 2015 Dec 31. Hum Mutat. 2016. PMID: 26670213 Free PMC article.
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.
Polfus LM, Boerwinkle E, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Grove M, Shete S, Wallace S, Milewicz D, Hanchard N, Lupski JR, Hashmi SS, Gupta-Malhotra M. Polfus LM, et al. Among authors: veeraraghavan n. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001255. doi: 10.1101/mcs.a001255. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900368 Free PMC article.
Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation.
Eicher JD, Chen MH, Pitsillides AN, Lin H, Veeraraghavan N, Brody JA, Metcalf GA, Muzny DM, Gibbs RA, Becker DM, Becker LC, Faraday N, Mathias RA, Yanek LR, Boerwinkle E, Cupples LA, Johnson AD. Eicher JD, et al. Among authors: veeraraghavan n. Thromb Haemost. 2017 Jun 2;117(6):1083-1092. doi: 10.1160/TH16-09-0677. Epub 2017 Mar 16. Thromb Haemost. 2017. PMID: 28300864 Free PMC article.
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, Chen L, Aris IM, Soh SE, Tint MT, MacIsaac JL, Yap F, Kwek K, Saw SM, Kobor MS, Meaney MJ, Godfrey KM, Chong YS, Holbrook JD, Lee YS, Gluckman PD, Karnani N; GUSTO study group; Kapoor A, Lee D, Chakravarti A, Maercker C, Graf F, Boutros M, Stamoulis G, Santoni F, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Garieri M, Ribaux P, Falconnet E, Borel C, Antonarakis SE, Kumar S, Curran J, Blangero J, Chatterjee S, Kapoor A, Akiyama J, Auer D, Berrios C, Pennacchio L, Chakravarti A, Donti TR, Cappuccio G, Miller M, Atwal P, Kennedy A, Cardon A, Bacino C, Emrick L, Hertecant J, Baumer F, Porter B, Bainbridge M, Bonnen P, Graham B, Sutton R, Sun Q, Elsea S, Hu Z, Wang P, Zhu Y, Zhao J, Xiong M, Bennett DA, Hidalgo-Miranda A, Romero-Cordoba S, Rodriguez-Cuevas S, Rebollar-Vega R, Tagliabue E, Iorio M, D’Ippolito E, Baroni S, Kaczkowski B, Tanaka Y, Kawaji H, Sandelin A, Andersson R, Itoh M, Lassmann T; The FANTOM5 Consortium; Hayashizaki Y, Carninci P, Forrest ARR, Semple CA, Rosenthal EA, Shirts B, Amendola L, Gallego C, Horike-Pyne… See abstract for full author list ➔ Srivastava AK, et al. Among authors: veeraraghavan n. Hum Genomics. 2016 May 26;10 Suppl 1(Suppl 1):12. doi: 10.1186/s40246-016-0063-5. Hum Genomics. 2016. PMID: 27294413 Free PMC article.
Walker, C. Buhay, X. Liu, Q. Wang, R. Sanghvi, H. Doddapaneni, Y. Ding, N. Veeraraghavan, Y. Yang, E. Boerwinkle, A. L. Beaudet, C. M. ...Edrees, M. Athar, F. A. Al-Allaf, M. M. Taher, W. Khan, A. Bouazzaoui, N. A. Harbi, R. Safar, H. Al-Edressi, A. Anazi, …
Walker, C. Buhay, X. Liu, Q. Wang, R. Sanghvi, H. Doddapaneni, Y. Ding, N. Veeraraghavan, Y. Yang, E. Boerwinkle, A. L. Beaude …
82 results