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Page 1
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
Lowe JK, Maller JB, Pe'er I, Neale BM, Salit J, Kenny EE, Shea JL, Burkhardt R, Smith JG, Ji W, Noel M, Foo JN, Blundell ML, Skilling V, Garcia L, Sullivan ML, Lee HE, Labek A, Ferdowsian H, Auerbach SB, Lifton RP, Newton-Cheh C, Breslow JL, Stoffel M, Daly MJ, Altshuler DM, Friedman JM. Lowe JK, et al. Among authors: kenny ee. PLoS Genet. 2009 Feb;5(2):e1000365. doi: 10.1371/journal.pgen.1000365. Epub 2009 Feb 6. PLoS Genet. 2009. PMID: 19197348 Free PMC article.
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
Burkhardt R, Kenny EE, Lowe JK, Birkeland A, Josowitz R, Noel M, Salit J, Maller JB, Pe'er I, Daly MJ, Altshuler D, Stoffel M, Friedman JM, Breslow JL. Burkhardt R, et al. Among authors: kenny ee. Arterioscler Thromb Vasc Biol. 2008 Nov;28(11):2078-84. doi: 10.1161/ATVBAHA.108.172288. Epub 2008 Sep 18. Arterioscler Thromb Vasc Biol. 2008. PMID: 18802019 Free PMC article.
Low-pass genome-wide sequencing and variant inference using identity-by-descent in an isolated human population.
Gusev A, Shah MJ, Kenny EE, Ramachandran A, Lowe JK, Salit J, Lee CC, Levandowsky EC, Weaver TN, Doan QC, Peckham HE, McLaughlin SF, Lyons MR, Sheth VN, Stoffel M, De La Vega FM, Friedman JM, Breslow JL, Pe'er I. Gusev A, et al. Among authors: kenny ee. Genetics. 2012 Feb;190(2):679-89. doi: 10.1534/genetics.111.134874. Epub 2011 Nov 30. Genetics. 2012. PMID: 22135348 Free PMC article.
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I. Kenny EE, et al. PLoS Genet. 2012;8(3):e1002559. doi: 10.1371/journal.pgen.1002559. Epub 2012 Mar 8. PLoS Genet. 2012. PMID: 22412388 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. 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.
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.
212 results