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Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ, Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients.
Nature 464(7286):292-6 2010
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Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ, Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients.
Nature 464(7286):292-6 2010
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Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER., Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease.
Annals of Human Genetics : 2010
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Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER., Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease.
Annals of Human Genetics : 2010
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Joyce van de Leemput, PhD,1,2,3
Fabienne Wavrant-De Vrie`ze, BA,1
Ian Rafferty, BA,1 Jose M. Bras, MS,1
Paola Giunti, MD,2 Elizabeth MC Fisher, PhD,3
John A. Hardy, PhD,2 Andrew B. Singleton, PhD,1*
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Human genetics 127(3):315-24 2010
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Punga, T. and Buhler, M., Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation.
EMBO Mol Med 2:120-129 2010
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Vitvitsky, V., Witcher, M., Banerjee, R., and Thoene, J., The redox status of cystinotic fibroblasts.
Mol Genet Metabol 99(2010):384-388 2010
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Molecular vision 15:1594-8 2009
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Human molecular genetics : 2009
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Human molecular genetics : 2009
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Pharmacogenetics and Genomics 19:464-476 2009
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Genome research : 2009
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Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV, Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
The Journal of molecular diagnostics : JMD 11:553-61 2009
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The Journal of biological chemistry : 2009
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Brand OJ, Barrett JC, Simmonds MJ, Newby PR, McCabe CJ, Bruce CK, Kysela B, Carr-Smith JD, Brix T, Hunt PJ, Wiersinga WM, Hegedüs L, Connell J, Wass JA, Franklyn JA, Weetman AP, Heward JM, Gough SC, Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease.
Human molecular genetics 18:1704-13 2009
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Pediatric Research 66(6):631-35 2009
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Bush, W.S., Crawford, D.C., Alexander, C., George, A.L., Roden, D.M., and Ritchie, M.D., Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias.
Pharmacogenomics 10(6):1043-53 2009
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Canova C, Hashibe M, Simonato L, Nelis M, Metspalu A, Lagiou P, Trichopoulos D, Ahrens W, Pigeot I, Merletti F, Richiardi L, Talamini R, Barzan L, Macfarlane GJ, Macfarlane TV, Holcátová I, Bencko V, Benhamou S, Bouchardy C, Kjaerheim K, Lowry R, Agudo A, Castellsagué X, Conway DI, McKinney PA, Znaor A, McCartan BE, Healy CM, Marron M, Brennan P, Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.
Cancer research 69:2956-65 2009
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Chen J, Zheng H, Bei JX, Sun L, Jia WH, Li T, Zhang F, Seielstad M, Zeng YX, Zhang X, Liu J, Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation.
American journal of human genetics : 2009
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Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ, A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Human molecular genetics 18:1524-32 2009
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Coon, B.G., Mukherjee, D., Hanna, C.B., Riese II, D.J., Lowe, M., and Aguilar, R.C., Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.
Hum Molec Genet 18(23):4478-4491 2009
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Fan HP, Di Liao C, Fu BY, Lam LC, Tang NL, Interindividual and interethnic variation in genomewide gene expression: insights into the biological variation of gene expression and clinical implications.
Clinical chemistry 55:774-85 2009
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Forte E, Luftig MA, MDM2-dependent inhibition of p53 is required for Epstein-Barr virus B-cell growth transformation and infected-cell survival.
Journal of virology 83:2491-9 2009
PubMed ID: 19144715 View Samples |
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Garcia-Barcelo MM, Tang CS, Ngan ES, Lui VC, Chen Y, So MT, Leon TY, Miao XP, Shum CK, Liu FQ, Yeung MY, Yuan ZW, Guo WH, Liu L, Sun XB, Huang LM, Tou JF, Song YQ, Chan D, Cheung KM, Wong KK, Cherny SS, Sham PC, Tam PK, Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
Proceedings of the National Academy of Sciences of the United States of America 106:2694-9 2009
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Goode EL, Fridley BL, Vierkant RA, Cunningham JM, Phelan CM, Anderson S, Rider DN, White KL, Pankratz VS, Song H, Hogdall E, Kjaer SK, Whittemore AS, DiCioccio R, Ramus SJ, Gayther SA, Schildkraut JM, Pharaoh PP, Sellers TA, Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 18:935-44 2009
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Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 18:935-44 2009
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Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P, Guthridge JM, Thomas K, Kaufman KM, Ojwang J, Rojas-Villarraga A, Baca V, Orozco L, Rhodes B, Choi CB, Gregersen PK, Merrill JT, James JA, Gaffney PM, Moser KL, Jacob CO, Kimberly RP, Harley JB, Bae SC, Anaya JM, Alarcón-Riquelme ME, Matsuda K, Vyse TJ, Nath SK, Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE).
Human molecular genetics 18:1171-80 2009
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Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P, Guthridge JM, Thomas K, Kaufman KM, Ojwang J, Rojas-Villarraga A, Baca V, Orozco L, Rhodes B, Choi CB, Gregersen PK, Merrill JT, James JA, Gaffney PM, Moser KL, Jacob CO, Kimberly RP, Harley JB, Bae SC, Anaya JM, Alarcón-Riquelme ME, Matsuda K, Vyse TJ, Nath SK, Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE).
Human molecular genetics 18:1171-80 2009
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Ionita-Laza I, Lange C, M Laird N, Estimating the number of unseen variants in the human genome.
Proceedings of the National Academy of Sciences of the United States of America 106:5008-13 2009
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Ionita-Laza I, Lange C, M Laird N, Estimating the number of unseen variants in the human genome.
Proceedings of the National Academy of Sciences of the United States of America 106:5008-13 2009
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Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.
The Journal of molecular diagnostics : JMD 11:530-6 2009
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Long JC, Li J, Healy ME, Human DNA sequences: more variation and less race.
American journal of physical anthropology 139:23-34 2009
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Long JC, Li J, Healy ME, Human DNA sequences: more variation and less race.
American journal of physical anthropology 139:23-34 2009
PubMed ID: 19226648 View Samples |
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McEvoy BP, Montgomery GW, McRae AF, Ripatti S, Perola M, Spector TD, Cherkas L, Ahmadi KR, Boomsma D, Willemsen G, Hottenga JJ, Peterson NL, Magnusson PK, Ohm Kyvik K, Christensen K, Kaprio J, Heikkila K, Palotie A, Widen E, Muilu J, Syvanen AC, Liljedahl U, Hardiman O, Cronin S, Peltonen L, Martin NG, Visscher PM, Geographical structure and differential natural selection amongst North European populations.
Genome research : 2009
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Müssig K, Staiger H, Machicao F, Stancáková A, Kuusisto J, Laakso M, Thamer C, Machann J, Schick F, Claussen CD, Stefan N, Fritsche A, Häring HU, Association of common genetic variation in the FOXO1 gene with beta-cell dysfunction, impaired glucose tolerance, and type 2 diabetes.
The Journal of clinical endocrinology and metabolism 94:1353-60 2009
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Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, and Shendure J.
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Nature 461(7261):272-276 2009
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Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, and Shendure J.
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Nature 461(7261):272-276 2009
PubMed ID: 19684571 View Samples |
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Pratt VM, Caggana M, Bridges C, Buller AM, Diantonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV, Development of genomic reference materials for cystic fibrosis genetic testing.
The Journal of molecular diagnostics : JMD 11:186-93 2009
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Rezgui D, Williams C, Savage SA, Prince SN, Zaccheo OJ, Jones EY, Crump MP, Hassan AB, Structure and function of the human Gly1619Arg polymorphism of M6P/IGF2R domain 11 implicated in IGF2 dependent growth.
Journal of molecular endocrinology 42:341-56 2009
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Shaw, D.M., Sutherland, A.M., Russell, J.A., Lichtenstein, S.V., and Walley, K.R., Novel polymorphism of interleukin-18 associated with greater inflammation after cardiac surgery.
Critical Care 13:R9 2009
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Tahara H, Yee SW, Urban TJ, Hesselson S, Castro RA, Kawamoto M, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Giacomini KM, Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).
The Journal of pharmacology and experimental therapeutics 329:262-71 2009
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Visscher, H., Ross, C.J.D., Dube, M-P., Brown, A.M.K., Phillips, M.S., Carleton, B.C., and Hayden, M.R., Application of principal component analysis to pharmacogenomic studies in Canada.
The Pharmacogenomics Journal 9:362-372 2009
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Wendland JR, Moya PR, Timpano KR, Anavitarte AP, Kruse MR, Wheaton MG, Ren-Patterson RF, Murphy DL, A haplotype containing quantitative trait loci for SLC1A1 gene expression and its association with obsessive-compulsive disorder.
Archives of general psychiatry 66:408-16 2009
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Xu WH, Long JR, Zheng W, Ruan ZX, Cai Q, Cheng JR, Zhao GM, Xiang YB, Shu XO, Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 18:579-84 2009
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Yang X, Liang SH, Weyant DM, Lazarus P, Gallagher CJ, Omiecinski CJ, The Expression of Human Microsomal Epoxide Hydrolase is Predominantly Driven by a Genetically Polymorphic Far Upstream Promoter.
The Journal of pharmacology and experimental therapeutics : 2009
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