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Publications

  1. Rimonabant for prevention of cardiovascular events (CRESCENDO): a randomised, multicentre, placebo-controlled trial. Topol EJ. et al. Lancet. 2010. 376(9740): 517-523.
  2. Pharmacy benefit managers, pharmacies, and pharmacogenomic testing: prescription for progress?. Topol EJ. Sci Transl Med. 11 August 2010. 2(44): 44cm22.
  3. Health Policy: the consumer movement in health care Topol EJ. PHAROS Spring 2010.
  4. Transforming medicine via digital innovation. Topol EJ. Sci Transl Med. 2010. 2(16): 16cm4.
  5. The case for routine genotyping in dual-antiplatelet therapy.Damani SB, Topol EJ. J Am Coll Cardiol.56(2):109-111.2010.
  6. Identification of blood biomarkers for psychosis using convergent functional genomics. Kurian SM, Le-Niculescu H, Patel SD, Bertram D, Davis J, Dike C, et al. Mol Psychiatry. 2009. doi: 10.1038/mp.2009.117 (in press). {Pilot}
  7. Microdroplet-based PCR enrichment for large-scale targeted sequencing. Tewhey R, Warner JB, Nakano M, Libby B, Medkova M, David PH, et al. Nat Biotechnol. 27(11):1025-1031, 2009.
  8. Sequence and structure signatures of cancer mutation hotspots in protein kinases. Dixit A, Yi L, Gowthaman R, Torkamani A, Schork NJ, Verkhivker GM. PLos One. 4(10):e7485, 2009.
  9. An agenda for personalized medicine. Ng PC, Murray SS, Levy S, Venter JC. Nature. 461(7265):724-726, 2009.
  10. Enrichment of sequencing targets from the human genome by solution hybridization. Tewhey R, Nakano M, Wang X, Pabon-Pena C, Novak B, Giuffre A, et al. Genome Biol. 10(10):R116, 2009.
  11. Constructing common cohorts from trials with overlapping eligibility criteria: implications for comparing effect sizes between trials. Mount DL, Feeney P, Fabricatore AN, Coday M, Bahnson J, Byington R, et al. Clin Trials. 6(5): 416-429, 2009. {Community Engagement}
  12. Variability analysis of human plasma and cerebral spinal fluid reveals statistical significance of changes in mass spectrometry-based metabolomics data. Crews B, Wikoff WR, Patti GJ, Woo HK, Kalisiak E, Heideker J, Met al. Anal Chem. 81(20): 8538-8544, 2009. {Pilot}
  13. Evaluation of metastatic and angiogenic potentials of human colon carcinoma cells in chick embryo model systems. Cecilia Subauste M, Kupriyanova TA, Conn EM, Ardi VC, Quigley JP, Deryugina EI. Clin Exp Metastasis. 26(8): 1033-1004, 2009. {Pilot}
  14. Crystal structures and biochemical analyses suggest a unique mechanism and role for human glycyl-tRNA synthetase in Ap4A homeostasis. Guo RT, Chong YE, Guo M, Yang XL. J Biol Chem. 284(42): 28968-28976, 2009. {Pilot}
  15. Circulating tumor cells from well-differentiated lung adenocarcinoma retain cytomorphologic features of primary tumor type. Marrinucci D, Bethel K, Luttgen M, Bruce RH, Nieva J, Kuhn P. Arch Pathol Lab Med. 133(9): 1468-1471, 2009. {Pilot}
  16. Depressive symptoms and momentary affect: the role of social interaction variables. Vranceanu AM, Gallo LC, Bogart LM. Depress Anxiety. 26(5): 464-470, 2009. {Community Engagement}
  17. Do socioeconomic gradients in subclinical atherosclerosis vary according to acculturation level? Analyses of Mexican-Americans in the multi-ethnic study of atherosclerosis. Gallo LC, de Los Monteros KE, Allison M, Roux AD, Polak JF, Watson KE, et al. Psychosom Med. 71(7): 756-762, 2009. [Community Engagement}
  18. Prestige centrality-based functional outlier detection in gene expression analysis. Torkamani A, Schork NJ. Bioinformatics. 25(17):2222-8, 2009.
  19. A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations. Joyner AH, Roddey JC, Bloss CS, Bakken TE, Rimol LM, Melle I, et al. Proc Natl Acad Sci USA. 106(36):15483-15488, 2009.
  20. Identification of rare cancer driver mutations by network reconstruction. Torkamani A, Schork NJ. Genome Res. 19(9):1570-8, 2009.
  21. Genome-wide association study of bipolar disorder in European American and African American individuals. Smith EN, Bloss CS, Badner JA, Barrett T, Belmonte PL, Berrettini W, et al. Mol Psychiatry. 14(8):755-763, 2009.
  22. Comparison of genetic distance measures using human SNP genotype data. Libiger O, Nievergelt CM, Schork NJ. Hum Biol. 81(4): 389-406, 2009.
  23. Elucidating the role of 8q24 in colorectal cancer. Harismendy O, Frazer, KA. Nat Genet. 41(8): 868-898, 2009.
  24. Lysophosphatidic acid in vascular development and disease. Teo ST, Yung YC, Herr DR, Chun J. IUBMB Life. 61(8): 791-799, 2009. {Pilot}
  25. Common vs. rare allele hypotheses for complex diseases. Schork NJ, Murray SS, Frazer KA, Topol EJ. Curr Opin Genet Dev. 19(3):212-219, 2009.
  26. Molecular genetics of atrial fibrillation. Damani SB, Topol EJ. Genome Med. 1(5):54, 2009.
  27. Evaluation of individualized clopidogrel therapy after drug-eluting stent implantation in patients with high residual platelet reactivity: design and rationale of the GRAVITAS trial. Price MJ, Berger PB, Angiolillo DJ, Teirstein PS, Tanguay JF, Kandzari DE, et al. Am Heart J. 157(5): 818-824, 2009.
  28. Human genetic variation and its contribution to complex traits. Frazer KA, Murray SS, Schork NJ, Topol EJ. Nat Rev Genet. 10(4):241-251, 2009.
  29. G-protein-coupled receptor kinase 4 polymorphisms and blood pressure response to metoprolol among African Americans: sex-specificity and interactions. Bhatnagar V, O’Connor DT, Brophy VH, Schork NJ, Richard E, Salem RM, et al. Am J Hypertens. 22(3):332-338, 2009.
  30. Evaluation of next generation sequencing platforms for population targeted sequencing studies. Harismendy O, Ng PC, Strausberg RL, Wang X, Stockwell TB, Beeson KY, et al. Genome Biol. 10(3):R32, 2009.
  31. Computational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability.Dixit A, Torkamani A, Schork NJ, Verkhivker G. Biophys J. 96(3):858-74, 2009.
  32. Pathway and network analysis with high-density allelic association data. Torkamani A, Schork NJ. Methods Mol Biol. 563:289-301, 2009.
  33. Promoter polymorphisms in ACE (angiotensin I-converting enzyme) associated with clinical outcomes in hypertension. Johnson AD, Gong Y, Wang D, Langaee TY, Shin J, Cooper-Dehoff RM, et al. Clin Pharmacol Ther. 85(1):36-44, 2009.
  34. The IL-10R1 S138G loss-of-function allele and ulcerative colitis. Grundtner P, Gruber S, Murray SS, Vermeire S, Rutgeerts P, Decker T, et al. Genes Immun. 10(1):84-92, 2009.
  35. Functional expansion of human tRNA synthetases achieved by structural inventions. Guo M, Schimmel P, Yang XL. FEBS Lett. 584(2): 434-442, 2009. {Pilot}
  36. Detection of carbohydrates and steroids by cation-enhanced nanostructure-initiator mass spectrometry (NIMS) for biofluid analysis and tissue imaging. Patti GJ, Woo HK, Yanes O, Shriver L, Thomas D, Uritboonthai W, et al. Anal Chem. 82(1): 121-128, 2009. {Pilot}
  37. Orthogonal use of a human tRNA synthetase active site to achieve multifunctionality. Zhou Q, Kapoor M, Guo M, Belani R, Xu X, Kiosses WB, et al. Nat Struct Mol Biol. 17(1): 57-61, 2009. {Pilot}
  38. Pathway analysis of seven common diseases assessed by genome-wide association. Torkamani A, Topol EJ, Schork NJ. Genomics. 92(5):265-272, 2008.
  39. Genome scanning and cardiovascular disease. Topol EJ. Heart. 94(11):1361-1363, 2008.
  40. Identification of ALK as a major familial neuroblastoma predisposition gene. Mossé YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, et al. Nature. 455(7215):930-935, 2008.
  41. Cancer driver mutations in protein kinase genes. Torkamani A, Verkhivker G, Schork NJ. Cancer Lett. 281(2):117-127, 2008.
  42. Predicting functional regulatory polymorphisms. Torkamani A, Schork NJ. Bioinformatics. 24(16):1787-1792, 2008.
  43. DNA sequence-based phenotypic association analysis. Schork NJ, Wessel J, Malo N. Adv Genet. 60:195-217, 2008.
  44. Gaining insights in coronary disease genomics. Murray SS, Topol EJ. J Am Coll Cardiol.52(5):385-386, 2008.
  45. Congenital disease SNPs target lineage specific structural elements in protein kinases. Torkamani A, Kannan N, Taylor SS, Schork NJ. Proc Natl Acad Sci USA. 105(26):9011-9016, 2008.
  46. Prediction of cancer driver mutations in protein kinases. Torkamani A, Schork NJ. Cancer Res. 68(6):1675-1682, 2008.
  47. Accommodating linkage disequilibrium in genetic-association analyses via ridge regression. Malo N, Libiger O, Schork NJ. Am J Hum Genet. 82(2):375-385, 2008.
  48. Accurate prediction of deleterious protein kinase polymorphisms. Torkamani A, Schork NJ. Bioinformatics. 23(21):2918-2925, 2007.