Publications

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1989
Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989 ;86(6):1919-23.
1991
Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 ;49(5):951-60.
1992
Descartes M, Huang Y, Zhang YH, McCabe LL, Gibbs RA, Therrell BL, McCabe ER. Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatr Res. 1992 ;31(3):217-21.
1995
Livak KJ, Rogers J, Lichter JB. Variability of dopamine D4 receptor (DRD4) gene sequence within and among nonhuman primate species. Proc Natl Acad Sci U S A. 1995 ;92(2):427-31.
1997
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 ;15(1):62-9.
Ansari-Lari MA, Liu XM, Metzker ML, Rut AR, Gibbs RA. The extent of genetic variation in the CCR5 gene. Nat Genet. 1997 ;16(3):221-2.
Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL. Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome Res. 1997 ;7(6):642-8.
1998
Rosen CJ, Kurland ES, Vereault D, Adler RA, Rackoff PJ, Craig WY, Witte S, Rogers J, Bilezikian JP. Association between serum insulin growth factor-I (IGF-I) and a simple sequence repeat in IGF-I gene: implications for genetic studies of bone mineral density. J Clin Endocrinol Metab. 1998 ;83(7):2286-90.
1999
Ren L, Mamun AA al, Humayun MZ. The mutA mistranslator tRNA-induced mutator phenotype requires recA and recB genes, but not the derepression of lexA-regulated functions. Mol Microbiol. 1999 ;32(3):607-15.
2000
Bonnen PE, Story MD, Ashorn CL, Buchholz TA, Weil MM, Nelson DL. Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet. 2000 ;67(6):1437-51.
2001
Tominaga A, Mahmoud MA, Mamun AA al, Mukaihara T. Characterization of cryptic flagellin genes in Shigella boydii and Shigella dysenteriae. Genes Genet Syst. 2001 ;76(2):111-20.
Kram A, Li L, Zhang RD, Yoon DS, Ro JY, Johnston D, Grossman HB, Scherer S, Czerniak B. Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression. Lab Invest. 2001 ;81(7):1039-48.
2002
Morrison AC, Bray MS, Folsom AR, Boerwinkle E. ADD1 460W allele associated with cardiovascular disease in hypertensive individuals. Hypertension. 2002 ;39(6):1053-7.
Bonnen PE, Wang PJ, Kimmel M, Chakraborty R, Nelson DL. Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 2002 ;12(12):1846-53.
2003
Twells RCJ, Mein CA, Phillips MS, J Hess F, Veijola R, Gilbey M, Bright M, Metzker M, Lie BA, Kingsnorth A, Gregory E, Nakagawa Y, Snook H, Wang WYS, Masters J, Johnson G, Eaves I, Howson JMM, Clayton D, Cordell HJ, Nutland S, Rance H, Carr P, Todd JA. Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res. 2003 ;13(5):845-55.
2004
Liao G, Wang J, Guo J, Allard J, Cheng J, Ng A, Shafer S, Puech A, McPherson JD, Foernzler D, Peltz G, Usuka J. In silico genetics: identification of a functional element regulating H2-Ealpha gene expression. Science. 2004 ;306(5696):690-5.
2005
Klos KLE, Hamon S, Clark AG, Boerwinkle E, Liu K, Sing CF. APOA5 polymorphisms influence plasma triglycerides in young, healthy African Americans and whites of the CARDIA Study. J Lipid Res. 2005 ;46(3):564-71.
Zhang J, Wheeler DA, Yakub I, Wei S, Sood R, Rowe W, Liu PP, Gibbs RA, Buetow KH. SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol. 2005 ;1(5):e53.
2006
Bonnen PE, Pe'er I, Plenge RM, Salit J, Lowe JK, Shapero MH, Lifton RP, Breslow JL, Daly MJ, Reich DE, Jones KW, Stoffel M, Altshuler D, Friedman JM. Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet. 2006 ;38(2):214-7.
Kim M-S, Jeong J, Majewski T, Kram A, Yoon D-S, Zhang R-D, Li J-Z, Ptaszynski K, Kuang TC, Zhou J-H, Sathyanarayana UG, Tuziak T, Johnston DA, Grossman HB, Gazdar AF, Scherer SE, Benedict WF, Czerniak B. Evidence for alternative candidate genes near RB1 involved in clonal expansion of in situ urothelial neoplasia. Lab Invest. 2006 ;86(2):175-90.
Volcik KA, Ballantyne CM, Coresh J, Folsom AR, Wu KK, Boerwinkle E. P-selectin Thr715Pro polymorphism predicts P-selectin levels but not risk of incident coronary heart disease or ischemic stroke in a cohort of 14595 participants: the Atherosclerosis Risk in Communities Study. Atherosclerosis. 2006 ;186(1):74-9.
2007
Vikis H, Sato M, James M, Wang D, Wang Y, Wang M, Jia D, Liu Y, Bailey-Wilson JE, Amos CI, Pinney SM, Petersen GM, de Andrade M, Yang P, Wiest JS, Fain PR, Schwartz AG, Gazdar A, Gaba C, Rothschild H, Mandal D, Kupert E, Seminara D, Viswanathan A, Govindan R, Minna J, Anderson MW, You M. EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity. Cancer Res. 2007 ;67(10):4665-70.
Price AL, Patterson N, Yu F, Cox DR, Waliszewska A, McDonald GJ, Tandon A, Schirmer C, Neubauer J, Bedoya G, Duque C, Villegas A, Bortolini MCatira, Salzano FM, Gallo C, Mazzotti G, Tello-Ruiz M, Riba L, Aguilar-Salinas CA, Canizales-Quinteros S, Menjivar M, Klitz W, Henderson B, Haiman CA, Winkler C, Tusie-Luna T, Ruiz-Linares A, Reich D. A genomewide admixture map for Latino populations. Am J Hum Genet. 2007 ;80(6):1024-36.
Wang M, Vikis HG, Wang Y, Jia D, Wang D, Bierut LJ, Bailey-Wilson JE, Amos CI, Pinney SM, Petersen GM, de Andrade M, Yang P, Wiest JS, Fain PR, Schwartz AG, Gazdar A, Minna J, Gaba C, Rothschild H, Mandal D, Kupert E, Seminara D, Liu Y, Viswanathan A, Govindan R, Anderson MW, You M. Identification of a novel tumor suppressor gene p34 on human chromosome 6q25.1. Cancer Res. 2007 ;67(1):93-9.
D Hallman M, Srinivasan SR, Chen W, Boerwinkle E, Berenson GS. Relation of PCSK9 mutations to serum low-density lipoprotein cholesterol in childhood and adulthood (from The Bogalusa Heart Study). Am J Cardiol. 2007 ;100(1):69-72.