Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 30

1.

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA; NHLBI Exome Sequencing Project, Bamshad MJ.

Am J Hum Genet. 2014 Aug 7;95(2):183-93. doi: 10.1016/j.ajhg.2014.07.006. Epub 2014 Jul 31.

PMID:
25087612
[PubMed - indexed for MEDLINE]
2.

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, Sim X, Rivas MA, Holmen OL, Gottesman O, Lu Y, Ruderfer D, Stahl EA, Duan Q, Li Y, Durda P, Jiao S, Isaacs A, Hofman A, Bis JC, Correa A, Griswold ME, Jakobsdottir J, Smith AV, Schreiner PJ, Feitosa MF, Zhang Q, Huffman JE, Crosby J, Wassel CL, Do R, Franceschini N, Martin LW, Robinson JG, Assimes TL, Crosslin DR, Rosenthal EA, Tsai M, Rieder MJ, Farlow DN, Folsom AR, Lumley T, Fox ER, Carlson CS, Peters U, Jackson RD, van Duijn CM, Uitterlinden AG, Levy D, Rotter JI, Taylor HA, Gudnason V Jr, Siscovick DS, Fornage M, Borecki IB, Hayward C, Rudan I, Chen YE, Bottinger EP, Loos RJ, Sætrom P, Hveem K, Boehnke M, Groop L, McCarthy M, Meitinger T, Ballantyne CM, Gabriel SB, O'Donnell CJ, Post WS, North KE, Reiner AP, Boerwinkle E, Psaty BM, Altshuler D, Kathiresan S, Lin DY, Jarvik GP, Cupples LA, Kooperberg C, Wilson JG, Nickerson DA, Abecasis GR, Rich SS, Tracy RP, Willer CJ; NHLBI Grand Opportunity Exome Sequencing Project.

Am J Hum Genet. 2014 Feb 6;94(2):233-45. doi: 10.1016/j.ajhg.2014.01.010.

PMID:
24507775
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

Hum Mol Genet. 2014 Apr 15;23(8):1957-63. doi: 10.1093/hmg/ddt588. Epub 2013 Nov 26.

PMID:
24282029
[PubMed - indexed for MEDLINE]
4.

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.

Rosenthal EA, Ranchalis J, Crosslin DR, Burt A, Brunzell JD, Motulsky AG, Nickerson DA; NHLBI GO Exome Sequencing Project, Wijsman EM, Jarvik GP.

Am J Hum Genet. 2013 Dec 5;93(6):1035-45. doi: 10.1016/j.ajhg.2013.10.019. Epub 2013 Nov 21.

PMID:
24268658
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1.

PMID:
23910461
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PLoS One. 2013 Jul 4;8(7):e65834. doi: 10.1371/journal.pone.0065834. Print 2013.

PMID:
23861739
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Standard care versus protocol based therapy for new onset Pseudomonas aeruginosa in cystic fibrosis.

Mayer-Hamblett N, Rosenfeld M, Treggiari MM, Konstan MW, Retsch-Bogart G, Morgan W, Wagener J, Gibson RL, Khan U, Emerson J, Thompson V, Elkin EP, Ramsey BW; EPIC; ESCF Investigators.

Pediatr Pulmonol. 2013 Oct;48(10):943-53. doi: 10.1002/ppul.22693. Epub 2013 Jul 2.

PMID:
23818295
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

Blood. 2013 Jul 25;122(4):590-7. doi: 10.1182/blood-2013-02-485094. Epub 2013 May 20.

PMID:
23690449
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15.

PMID:
23418287
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.

Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ; NHLBI Exome Sequencing Project, Akey JM.

Nature. 2013 Jan 10;493(7431):216-20. doi: 10.1038/nature11690. Epub 2012 Nov 28. Erratum in: Nature. 2013 Mar 14;495(7440):270. Rieder, Mark J [added].

PMID:
23201682
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348.

PMID:
22772371
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

Nat Genet. 2012 Jul 8;44(8):886-9. doi: 10.1038/ng.2344.

PMID:
22772370
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Long term effects of denufosol tetrasodium in patients with cystic fibrosis.

Ratjen F, Durham T, Navratil T, Schaberg A, Accurso FJ, Wainwright C, Barnes M, Moss RB; TIGER-2 Study Investigator Group.

J Cyst Fibros. 2012 Dec;11(6):539-49. doi: 10.1016/j.jcf.2012.05.003. Epub 2012 Jun 8.

PMID:
22682898
[PubMed - indexed for MEDLINE]
Free Article
14.

Risk factors for age at initial Pseudomonas acquisition in the cystic fibrosis epic observational cohort.

Rosenfeld M, Emerson J, McNamara S, Thompson V, Ramsey BW, Morgan W, Gibson RL; EPIC Study Group.

J Cyst Fibros. 2012 Sep;11(5):446-53. doi: 10.1016/j.jcf.2012.04.003. Epub 2012 May 1.

PMID:
22554417
[PubMed - indexed for MEDLINE]
Free Article
15.

Comparative efficacy and safety of 4 randomized regimens to treat early Pseudomonas aeruginosa infection in children with cystic fibrosis.

Treggiari MM, Retsch-Bogart G, Mayer-Hamblett N, Khan U, Kulich M, Kronmal R, Williams J, Hiatt P, Gibson RL, Spencer T, Orenstein D, Chatfield BA, Froh DK, Burns JL, Rosenfeld M, Ramsey BW; Early Pseudomonas Infection Control (EPIC) Investigators.

Arch Pediatr Adolesc Med. 2011 Sep;165(9):847-56. doi: 10.1001/archpediatrics.2011.136.

PMID:
21893650
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Initial Pseudomonas aeruginosa treatment failure is associated with exacerbations in cystic fibrosis.

Mayer-Hamblett N, Kronmal RA, Gibson RL, Rosenfeld M, Retsch-Bogart G, Treggiari MM, Burns JL, Khan U, Ramsey BW; EPIC Investigators.

Pediatr Pulmonol. 2012 Feb;47(2):125-34. doi: 10.1002/ppul.21525. Epub 2011 Aug 9.

PMID:
21830317
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Baseline characteristics and factors associated with nutritional and pulmonary status at enrollment in the cystic fibrosis EPIC observational cohort.

Rosenfeld M, Emerson J, McNamara S, Joubran K, Retsch-Bogart G, Graff GR, Gutierrez HH, Kanga JF, Lahiri T, Noyes B, Ramsey B, Ren CL, Schechter M, Morgan W, Gibson RL; EPIC Study Group Participating Clinical Sites.

Pediatr Pulmonol. 2010 Sep;45(9):934-44. doi: 10.1002/ppul.21279.

PMID:
20597081
[PubMed - indexed for MEDLINE]
18.

Risk factors associated with depressive symptoms in caregivers of children with type 1 diabetes or cystic fibrosis.

Driscoll KA, Johnson SB, Barker D, Quittner AL, Deeb LC, Geller DE, Gondor M, Silverstein JH.

J Pediatr Psychol. 2010 Sep;35(8):814-22. doi: 10.1093/jpepsy/jsp138. Epub 2010 Jan 22.

PMID:
20097908
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Genetic modifiers of liver disease in cystic fibrosis.

Bartlett JR, Friedman KJ, Ling SC, Pace RG, Bell SC, Bourke B, Castaldo G, Castellani C, Cipolli M, Colombo C, Colombo JL, Debray D, Fernandez A, Lacaille F, Macek M Jr, Rowland M, Salvatore F, Taylor CJ, Wainwright C, Wilschanski M, Zemková D, Hannah WB, Phillips MJ, Corey M, Zielenski J, Dorfman R, Wang Y, Zou F, Silverman LM, Drumm ML, Wright FA, Lange EM, Durie PR, Knowles MR; Gene Modifier Study Group.

JAMA. 2009 Sep 9;302(10):1076-83. doi: 10.1001/jama.2009.1295.

PMID:
19738092
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Early anti-pseudomonal acquisition in young patients with cystic fibrosis: rationale and design of the EPIC clinical trial and observational study'.

Treggiari MM, Rosenfeld M, Mayer-Hamblett N, Retsch-Bogart G, Gibson RL, Williams J, Emerson J, Kronmal RA, Ramsey BW; EPIC Study Group.

Contemp Clin Trials. 2009 May;30(3):256-68. doi: 10.1016/j.cct.2009.01.003. Epub 2009 Jan 15.

PMID:
19470318
[PubMed - indexed for MEDLINE]
Free PMC Article
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk