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Items: 1 to 20 of 107

1.

Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.

He KY, Li X, Kelly TN, Liang J, Cade BE, Assimes TL, Becker LC, Beitelshees AL, Bress AP, Chang YC, Chen YI, de Vries PS, Fox ER, Franceschini N, Furniss A, Gao Y, Guo X, Haessler J, Hwang SJ, Irvin MR, Kalyani RR, Liu CT, Liu C, Martin LW, Montasser ME, Muntner PM, Mwasongwe S, Palmas W, Reiner AP, Shimbo D, Smith JA, Snively BM, Yanek LR, Boerwinkle E, Correa A, Cupples LA, He J, Kardia SLR, Kooperberg C, Mathias RA, Mitchell BD, Psaty BM, Vasan RS, Rao DC, Rich SS, Rotter JI, Wilson JG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Blood Pressure Working Group, Chakravarti A, Morrison AC, Levy D, Arnett DK, Redline S, Zhu X.

Hum Genet. 2019 Feb;138(2):199-210. doi: 10.1007/s00439-019-01975-0. Epub 2019 Jan 22.

PMID:
30671673
2.

Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure.

He KY, Wang H, Cade BE, Nandakumar P, Giri A, Ware EB, Haessler J, Liang J, Smith JA, Franceschini N, Le TH, Kooperberg C, Edwards TL, Kardia SL, Lin X, Chakravarti A, Redline S, Zhu X.

PLoS Genet. 2017 Mar 27;13(3):e1006678. doi: 10.1371/journal.pgen.1006678. eCollection 2017 Mar.

3.

Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31.

Wang H, Nandakumar P, Tekola-Ayele F, Tayo BO, Ware EB, Gu CC, Lu Y, Yao J, Zhao W, Smith JA, Hellwege JN, Guo X, Edwards TL, Loos RJF, Arnett DK, Fornage M, Rotimi C, Kardia SLR, Cooper RS, Rao DC, Ehret G, Chakravarti A, Zhu X.

Eur J Hum Genet. 2019 Feb;27(2):269-277. doi: 10.1038/s41431-018-0277-1. Epub 2018 Sep 27.

PMID:
30262922
4.

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*.

Circ Cardiovasc Genet. 2016 Feb;9(1):64-70. doi: 10.1161/CIRCGENETICS.115.001215. Epub 2015 Dec 11.

5.

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder.

Cruceanu C, Ambalavanan A, Spiegelman D, Gauthier J, Lafrenière RG, Dion PA, Alda M, Turecki G, Rouleau GA.

Genome. 2013 Oct;56(10):634-40. doi: 10.1139/gen-2013-0081. Epub 2013 Sep 17.

6.

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

Du M, Auer PL, Jiao S, Haessler J, Altshuler D, Boerwinkle E, Carlson CS, Carty CL, Chen YD, Curtis K, Franceschini N, Hsu L, Jackson R, Lange LA, Lettre G, Monda KL; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project, Nickerson DA, Reiner AP, Rich SS, Rosse SA, Rotter JI, Willer CJ, Wilson JG, North K, Kooperberg C, Heard-Costa N, Peters U.

Hum Mol Genet. 2014 Dec 15;23(24):6607-15. doi: 10.1093/hmg/ddu361. Epub 2014 Jul 15.

7.

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT Jr, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS; National Heart, Lung, and Blood Institute Exome Sequencing Project.

JAMA Neurol. 2015 Jul;72(7):781-8. doi: 10.1001/jamaneurol.2015.0582.

8.

Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk.

Hellwege JN, Palmer ND, Raffield LM, Ng MC, Hawkins GA, Long J, Lorenzo C, Norris JM, Ida Chen YD, Speliotes EK, Rotter JI, Langefeld CD, Wagenknecht LE, Bowden DW.

Genet Epidemiol. 2014 May;38(4):345-52. doi: 10.1002/gepi.21801. Epub 2014 Apr 9.

9.

Variants on chromosome 6p22.3 associated with blood pressure in the HyperGEN study: follow-up of FBPP quantitative trait loci.

Simino J, Shi G, Arnett D, Broeckel U, Hunt SC, Rao DC.

Am J Hypertens. 2011 Nov;24(11):1227-33. doi: 10.1038/ajh.2011.140. Epub 2011 Aug 18.

10.

Quantifying the mapping precision of genome-wide association studies using whole-genome sequencing data.

Wu Y, Zheng Z, Visscher PM, Yang J.

Genome Biol. 2017 May 16;18(1):86. doi: 10.1186/s13059-017-1216-0.

11.

Admixture mapping in the Hispanic Community Health Study/Study of Latinos reveals regions of genetic associations with blood pressure traits.

Sofer T, Baier LJ, Browning SR, Thornton TA, Talavera GA, Wassertheil-Smoller S, Daviglus ML, Hanson R, Kobes S, Cooper RS, Cai J, Levy D, Reiner AP, Franceschini N.

PLoS One. 2017 Nov 20;12(11):e0188400. doi: 10.1371/journal.pone.0188400. eCollection 2017.

12.

Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.

Ehret GB, O'Connor AA, Weder A, Cooper RS, Chakravarti A.

Eur J Hum Genet. 2009 Dec;17(12):1650-7. doi: 10.1038/ejhg.2009.94. Epub 2009 Jun 17.

13.

The role of rare variants in systolic blood pressure: analysis of ExomeChip data in HyperGEN African Americans.

Sung YJ, Basson J, Cheng N, Nguyen KD, Nandakumar P, Hunt SC, Arnett DK, Dávila-Román VG, Rao DC, Chakravarti A.

Hum Hered. 2015;79(1):20-7.

14.

Mapping of a blood pressure QTL on chromosome 17 in American Indians of the strong heart family study.

Franceschini N, Tao R, Liu L, Rutherford S, Haack K, Almasy L, Göring HH, Laston S, Lee ET, Best LG, Fabsitz R, Cole SA, North KE.

BMC Cardiovasc Disord. 2014 Nov 11;14:158. doi: 10.1186/1471-2261-14-158.

15.

Challenges of linkage analysis in the era of whole-genome sequencing.

Santorico SA, Edwards KL.

Genet Epidemiol. 2014 Sep;38 Suppl 1:S92-6. doi: 10.1002/gepi.21832.

PMID:
25112196
16.

Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS, Carlson CS, Fornage M, Haessler J, Hsu L, Jackson RD, Kooperberg C, Leal SM, Psaty BM, Boerwinkle E, Tracy R, Ardissino D, Shah S, Willer C, Loos R, Melander O, Mcpherson R, Hovingh K, Reilly M, Watkins H, Girelli D, Fontanillas P, Chasman DI, Gabriel SB, Gibbs R, Nickerson DA, Kathiresan S, Peters U, Dupuis J, Wilson JG, Rich SS, Morrison AC, Benjamin EJ, Gross MD, Reiner AP; Cohorts for Heart and Aging Research in Genomic Epidemiology; National Heart, Lung, and Blood Institute GO Exome Sequencing Project.

Hum Mol Genet. 2015 Jan 15;24(2):559-71. doi: 10.1093/hmg/ddu450. Epub 2014 Sep 3.

17.

Identifying rare variants associated with complex traits via sequencing.

Li B, Liu DJ, Leal SM.

Curr Protoc Hum Genet. 2013 Jul;Chapter 1:Unit 1.26. doi: 10.1002/0471142905.hg0126s78. Review.

18.

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg D, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JE, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G; AOGC Consortium, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CM; UK10K Consortium, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F, Richards JB.

Nature. 2015 Oct 1;526(7571):112-7. doi: 10.1038/nature14878. Epub 2015 Sep 14.

19.

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

Liu C, Kraja AT, Smith JA, Brody JA, Franceschini N, Bis JC, Rice K, Morrison AC, Lu Y, Weiss S, Guo X, Palmas W, Martin LW, Chen YD, Surendran P, Drenos F, Cook JP, Auer PL, Chu AY, Giri A, Zhao W, Jakobsdottir J, Lin LA, Stafford JM, Amin N, Mei H, Yao J, Voorman A; CHD Exome+ Consortium; ExomeBP Consortium; GoT2DGenes Consortium; T2D-GENES Consortium, Larson MG, Grove ML, Smith AV, Hwang SJ, Chen H, Huan T, Kosova G, Stitziel NO, Kathiresan S, Samani N, Schunkert H, Deloukas P; Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia, Li M, Fuchsberger C, Pattaro C, Gorski M; CKDGen Consortium, Kooperberg C, Papanicolaou GJ, Rossouw JE, Faul JD, Kardia SL, Bouchard C, Raffel LJ, Uitterlinden AG, Franco OH, Vasan RS, O'Donnell CJ, Taylor KD, Liu K, Bottinger EP, Gottesman O, Daw EW, Giulianini F, Ganesh S, Salfati E, Harris TB, Launer LJ, Dörr M, Felix SB, Rettig R, Völzke H, Kim E, Lee WJ, Lee IT, Sheu WH, Tsosie KS, Edwards DR, Liu Y, Correa A, Weir DR, Völker U, Ridker PM, Boerwinkle E, Gudnason V, Reiner AP, van Duijn CM, Borecki IB, Edwards TL, Chakravarti A, Rotter JI, Psaty BM, Loos RJ, Fornage M, Ehret GB, Newton-Cheh C, Levy D, Chasman DI.

Nat Genet. 2016 Oct;48(10):1162-70. doi: 10.1038/ng.3660. Epub 2016 Sep 12.

20.

Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits.

Morrison AC, Huang Z, Yu B, Metcalf G, Liu X, Ballantyne C, Coresh J, Yu F, Muzny D, Feofanova E, Rustagi N, Gibbs R, Boerwinkle E.

Am J Hum Genet. 2017 Feb 2;100(2):205-215. doi: 10.1016/j.ajhg.2016.12.009. Epub 2017 Jan 12.

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