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Is Pocket Mobile Echocardiography the Next-Generation Stethoscope? A Cross-sectional Comparison of Rapidly Acquired Images With Standard Transthoracic Echocardiography Liebo MJ, Israel RL, Lillie EO, Smith MR, Rubenson DS, Topol EJ. Annals of Internal Medicine 2011; 155:33-38.
Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the consortium on the genetics of schizophrenia.Greenwood TA, Lazzeroni LC, Murray SS, et. al. Am J Psychiatry. 2011 Apr 15. PMID: 21498463.
Ectopic B-cell clusters that infiltrate transplanted human kidneys are clonal.Cheng J, Torkamani A, Grover RK, et. al. Proc Natl Acad Sci U S A. 108(14):5560-5. 2011 Apr 5. PMID: 21415360.
Efficient and cost efective population resequencing by pooling and in-solution hybridization.Bansal V, Tewhey R, LeProust EM, Schork NJ. PLoS ONE 6(3): e18353.2011 March 30.
The n-of-1 clinical trial: the ultimate strategy for individualizing medicine? Lillie EO, Patay B, Diamant J, Issell B, Topol EJ, Schork, NJ. Personalized Medicine. 8(2): 161-173. 2011 March.
Standard- vs high-dose clopidogrel based on platelet function testing after percutaneous coronary intervention. The GRAVITAS randomized trial. Price MJ, Berger PB, Teirstein PS, et. al., JAMA 305(11):1097-1105. 2011 Mar 16.
Genomics for disease treatment and prevention. Bloss CS, Jeste DV, Schork NJ. Psychiatr Clin North Am.34(1):147-66. 2011 Mar.
Identifying new genetic markers for metformin response in type 2 diabetes.Torkamani A. Medscape Genomic Medicine. 2011 Mar 3.
Strobe sequence design for haplotype assembly. Lo C, Bashir A, Bansal V, et. al., BMC Bioinformatics. 12(Suppl 1): S24. 2011, Feb. 15. PMID: 21342554.
9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response. Harismendy O, Notani D, Song X, et. al., Nature. 470(7333): 264-8. 2011 Feb. 10. PMID: 21307941.
Digital medicine and the Scripps Translational Science Institute. Topol EJ, Schork NJ, Smith JM. Clin Transl Sci. 4(1):8-9. 2011 Feb. PMID: 21348949.
The next phase in human genetics. Bansal V, Tewhey R, Topol E.J., Schork N.J. Nat Biotechnol. 29: 38-39. 2011 Jan. 10. PMID: 21221098.
Effect of direct-to-consumer genomewide profiling to assess disease. Bloss, CS, Schork, NJ, Topol, EJ. NEJM. 10.1056. 2011 Jan. 12. PMID: 21226570.
Pondering the significance of PON1. Damani, S. Sci Transl Med 3(65):ec5. 2011 Jan 12.
Association of mortality with years of education in patients with ST-segment elevation myocardial infarction treated with fibrinolysis. Mehta RH, O’Shea JC, Stebbins AL, et.al., Am Coll Cardiol. 57(2): 138-146. 2011 Jan. 11. PMID: 21211684.
Catapulting clopidogrel pharmacogenomics forward.Topol EJ, Schork NJ. Nat Med. 17(1):40-1. 2011 Jan. PMID: 21217678.
Effect or clopidogrel plus ASA vs. ASA early after TIA and ichaemic stroke: a substudy of the CHARISMA trial. Hankey GJ, Johnson SC, Easton JD, et.al. Int J Stroke 6(1): 3-9. PMID: 21205234.
An application and empirical comparison of statistical analysis methods for associating rare variants to a complex phenotype. Bansal V, Libiger O, Torkamani A, Schork N. Pac Symp Biocomput 76-87. 2011. PMID: 21121035
Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height. Lanktree M, Guo Y, Murtaza M, et. al. Am J Hum Genet. 88(1): 6-18. 2011 Jan 7. PMID: 21194676.
Development of the first inhaled antibiotic for the treatment of cystic fibrosis. Rose LM, Neale R. Sci Transl Med. 2(63): 63mr5. 2010 Dec 22. PMID: 21178134.
Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level. Harismendy O, Bansal V, et al. Genome Biol. 11(11): R118. 2010 Nov. PMID: 21118518.
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Elks CE, et.al. Genet. 2010 Nov 21. PMID: 21102462.
Altered DNA methylation in leukocytes with trisomy 21. Kerkel K, Schupf N, Hatta K, et.al. PLoS Genet. 6(11):e1001212. 2010 Nov 18. PMID: 21124956.
A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa. Wang K, Zhang H, Bloss CS, et.al. Mol Psychiatry. 2010 Nov 16. PMID: 21079607.
BCL6 is required for differentiation of Ig-like transcript 3-Fc-induced CD8+ T suppressor cells. Chang CC, Vlad G, D’Agati VD, et al. J Immunol 185(10):5714-22. 2010 Nov 15. PMID: 20935202.
Statistical analysis strategies for association studies involving rare variants. Bansal V, Libiger O, Torkamani A, Schork NJ. Nat Rev Genet. 11(11):773-85. 2010 Nov. PMID: 20940738.
Gene profile analysis of CD8(+) ILT3-Fc induced T suppressor cells. Vlad G, King J, Chang CC, et. al. Human Immunol. 2010 Nov 4. PMID: 20974207.
Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Scott-Van Zeeland, AA. et.al. Sci Transl Med. 2:56ra80. 2010 Nov 3. PMID: 21048216.
The KIF6 Collapse. Topol EJ, Damani SB. J Am Coll Cardiol. 56(19):1564-1566. 2010 Nov 2. PMID: 20888161.
Pilot study of the antiplatelet effect of increased clopidogrel maintenance dosing and its relationship to CYP2C19 genotype in patients with high on-treatment reactivity. Barker CM, Murray SS, Teirstein PS, Kandzari DE, Topol EJ, Price, MJ. J Am Coll Cardiol Intv. 3:1001-1007. 2010 Oct 18.
Mapping Human Disease Risk. Damani S. Sci Transl Med. 2010 Oct 13. 2:53ec15.
Multicenter validation of the diagnostic accuracy of a blood-based gene expression test for assessing obstructive coronary artery disease in nondiabetic patients. Rosenberg, S, et. al. (PREDICT (Personalized Risk Evaluation and Diagnosis in the Coronary Tree) investigators. Ann Intern Med. 153(7):425-34. 2010 Oct 5. PMID: 20921541.
Office-based management of obesity. Fujioka K, Bakhru N. Mt Sinai J Med. (5):466-71. 2010 Sept-Oct. PMID: 20960549.
Human behavioral informatics in genetic studies of neuropsychiatric disease: multivariate profile-based analysis. Bloss CS, Schiabor KM, Schork NJ. Brain Res Bull. 83(3-4):177-188. 2010 Sept. PMID: 20433907.
Longitudinal genome-wide association of cardiovascular disease risk factors in the bogalusa heart study. Smith EN, et. al. PLoS Genet. 9;6(9). pii: e1001094. 2010 Sep 9. PMID: 20838585.
Consumer perceptions of direct-to-consumer personalized genomic risk assessments.Bloss CS, et. al. Genet Med. 12(9):556-66. 2010 Sep. PMID: 20717041.
Emerging clinical applications in cardiovascular pharmacogenomics.Damani SB, Topol EJ. Wiley Interdiscip Rev Syst Biol Med. 2010 Aug 20. PMID: 20730785.
Rimonabant for prevention of cardiovascular events (CRESCENDO): a randomised, multicentre, placebo-controlled trial. Topol EJ. et al. Lancet. 376(9740): 517-523. 2010 Aug 14. PMID: 20709233.
Pharmacy benefit managers, pharmacies, and pharmacogenomic testing: prescription for progress?. Topol EJ. Sci Transl Med.. 2(44): 44cm22. 2010 Aug 11. PMID: 20702854.
Decoding sudden cardiac death. Damani S. Sci Transl Med. 2:41ec115. 2010 Jul.
Association study of 182 candidate genes in anorexia nervosa. Pinheiro AP, et.al. Am J Med Genet B Neuropsychiatr Genet. 153B(5):1070-80. 2010 Jul. PMID: 2046804.
The effects of globin on microarray-based gene expression analysis of mouse blood. Winn ME, et.al. Mamm Genome. 21(5-6):268-275. 2010. June. PMID: 20473674.
The case for routine genotyping in dual-antiplatelet therapy.Damani SB, Topol EJ. J Am Coll Cardiol. 56(2):109-111. 2010 July. PMID: 2047193.
A genome-wide linkage scan identifies multiple quantitative trait loci for HDL-cholesterol levels in families with premature CAD and MI. Yang R, et. al. Jrl Lipid Research. 51(6): 1446-1451. 2010 June. PMID: 20075193.
Health Policy: the consumer movement in health care. Topol EJ. PHAROS. 73(2): 34-35. 2010 Spring. PMID: 20455379.
Towards a comprehensive structural variation map of an individual human genome. Pang AW, et. al. Genome Biol. 11(5):R52. 2010 May. PMID: 20482838.
Progression of chronic kidney disease: adrenergic genetic influence on glomerular filtration rate decline in hypertensive nephrosclerosis. Chen Y, et. al. Am J Nephrol. 32(1): 23-30. 2010 May 19. PMID: 20484896.
Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. Levy D, et.al., Proc Natl Acad Sci. 107(20):9293-9298. 2010 May 18. PMCID: PMC2889047.
Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia. Torkamani A, Dean B, Schork NJ, Thomas EA. Genome Res. 20(4):403-412. 2010 Apr. PMID: 20197298.
Curve-based multivariate distance matrix regression (CMDMR) analysis: application to genetic association analyses involving repeated measures. Salem RM, Connor DT, Schork NJ. Physiol Genomics. 42(2):236-247. 2010 Apr 27. PMID: 20423962.
Extremes of unexplained variation as a phenotype: an efficient approach for genome-wide association studies of cardiovascular disease. Lanktree MB, Hegele RA, Schork NJ, Spence JD. Circ Cardiovasc Genet. 3(2): 215-221. 2010 Apr. PMID: 20421499.
Accurate detection and genotyping of SNPs utilizing population sequencing data. Bansal V, Harismendy O, Tewhey R, Murray SS, Schork NJ, Topol EJ, Frazer KA. Genome Res. 20(4):537-45. 2010 Apr. PMCID: PMC2847757.
Genotype-based risk and pharmacogenetic sampling in clinical trials.Schork NJ, Topol EJ. J Biopharm Stat. 20(2):315-333, 2010 Apr. PMID 20309761.
Inhibition of the P50 cerebral evoked response to repeated auditory stimuli: results from the consortium on genetics of schizophrenia. Olincy A, et. al. Schizophr Res. 119(1-3): 175-182. 2010 April 8. PMID: 20382002.
Antisaccade performance in schizophrenia patients, their first-degree biological relatives, and community comparison subjects: data from the COGS study. Radant AD, et. al. Psychophysiology. 47(5):846-56. 2010 Apr 5. PMID: 20374545.
Longitudinal magnetic resonance imaging study of cortical development through early childhood in autism. Schumann C, Bloss CS, et. al. JNeurosci. 30(12): 4419-4427. 2010 March. PMID: 20335478
Common variants in KCNN3 are associated with lone atrial fibrillation. Ellinor PT, et. al. Nat Genet. 42(3):240-244. 2010 March. PMID: 20173747.
Enoxaparin in primary and facilitated percutaneous coronary intervention. A formal prospective nonrandomized sub-study of the FINESSE trial (Facilitated INtervention with Enhanced Reperfusion Speed to Stop Events. Montalescot G, et. al. JACC Cardiovasc Interv. 3(2): 203-212. 2010 Feb. PMID: 20170878.
Human dopamine beta-hydroxlase (DBH) regulatory polymorphism that influences enzymatic activity, automatic function, and blood pressure. Chen Y, et. al. J Hypertens. 28(1): 76-86. 2010 Jan. PMID: 20009769.
Transforming medicine via digital innovation. Topol EJ. Sci Transl Med. 2(16): 16cm4. 2010 Jan. PMID: 203471472.
Biomarkers of endocannabinoid system activation in severe obesity. Sipe JC, Scott TM, Murray S, et.al. PLoS One. 5(1): e8792. 2010 Jan 20. PMCID: PMC2808340.
Sex-dependent association of common variants of microcephaly genes with brain structure. Rimol LM, et.al. Proc Natl Acad Sci. 107(1):384-388. 2010 Jan 5. PMID: 20080800.
Adrenergic beta-1 receptor genetic variation predicts longitudinal rate of GFR decline in hypertensive nephrosclerosis.Fung MM, Chen Y, Lipkowitz MS, et. al. Nephrol Dial Transplant. 24(12):3677-86. 2009 Dec. PMID: 19745105.
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. doi: 10.1038/mp.2009.117. 2009. PMID: 19935739.
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. PMID: 19881494.
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. PMID: 19834613.
An agenda for personalized medicine. Ng PC, Murray SS, Levy S, Venter JC. Nature. 461(7265):724-726. 2009. PMID: 19812653.
Pleiotropic roles of matrix metalloproteinases in tumor angiogenesis: contrasting, overlapping and compensatory functions. Deryugina EI, Quigley JP. Biochim Biophys Acta. 1803(1):103-20. Epub 2009 Oct 2. PMID: 19800930.
Resiliency in the face of disadvantage: do Hispanic cultural characteristics protect health outcomes?Gallo LC, Penedo FJ, Espinosa de los Monteros K, Arguelles W. J Pers. 77(6):1707-46. Epub 2009 Sep 30.
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. PMID: 19835619.
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. PMID: 19737845.
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, et al. Anal Chem. 81(20): 8538-8544. 2009. PMID: 19764780.
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. PMID: 19842048.
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. PMID: 19710017.
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. PMID: 19722757.
Depressive symptoms and momentary affect: the role of social interaction variables. Vranceanu AM, Gallo LC, Bogart LM. Depress Anxiety. 26(5): 464-470. 2009. PMID: 19195007.
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. PMID: 19661194.
Prestige centrality-based functional outlier detection in gene expression analysis. Torkamani A, Schork NJ. Bioinformatics. 25(17):2222-8. 2009. PMID: 19549629.
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. 106(36):15483-15488. 2009. PMID: 19717458.
Identification of rare cancer driver mutations by network reconstruction. Torkamani A, Schork NJ. Genome Res. 19(9):1570-78. 2009. PMID: 19574499.
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. PMID: 19488044.
Comparison of genetic distance measures using human SNP genotype data. Libiger O, Nievergelt CM, Schork NJ. Hum Biol. 81(4): 389-406.. 2009. PMID: 20067366.
Elucidating the role of 8q24 in colorectal cancer. Harismendy O, Frazer, KA. Nat Genet. 41(8): 868-898. 2009.PMID: 19639026.
Lysophosphatidic acid in vascular development and disease. Teo ST, Yung YC, Herr DR, Chun J. IUBMB Life. 61(8): 791-799. 2009. PMID: 19621353.
Common vs. rare allele hypotheses for complex diseases. Schork NJ, Murray SS, Frazer KA, Topol EJ. Curr Opin Genet Dev. 2009. 19(3):212-219. PMID: 19481926.
Molecular genetics of atrial fibrillation. Damani SB, Topol EJ. Genome Med. 1(5):54. 2009. PMID: 19490585.
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, Cannon CP, Topol EJ. Am Heart J. 157(5): 818-824. 2009. PMID: 19376306.
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. PMID: 19293820.
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. PMID: 19119263.
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. PMID: 19327155.
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. PMID: 19186126.
Pathway and network analysis with high-density allelic association data. Torkamani A, Schork NJ. Methods Mol Biol. 563:289-301. 2009. PMID: 19597792.
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. PMID: 18946466.
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. PMID: 18800073.
Functional expansion of human tRNA synthetases achieved by structural inventions. Guo M, Schimmel P, Yang XL. FEBS Lett. 584(2): 434-442. 2009. PMID: 19932696.
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. PMID: 19961200.
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. PMID: 20010843.
Pathway analysis of seven common diseases assessed by genome-wide association. Torkamani A, Topol EJ, Schork NJ. Genomics. 92(5):265-272. 2008. PMID: 18562267
Genome scanning and cardiovascular disease. Topol EJ. Heart. 94(11):1361-1363. 2008. PMID: 18722519.
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. PMID: 18724359.
Cancer driver mutations in protein kinase genes. Torkamani A, Verkhivker G, Schork NJ. Cancer Lett. 2008. 281(2):117-127. PMID: 19081671.
Predicting functional regulatory polymorphisms. Torkamani A, Schork NJ. Bioinformatics. 2008. 24(16):1787-1792. PMID: 18562267.
DNA sequence-based phenotypic association analysis. Schork NJ, Wessel J, Malo N. Adv Genet. 60:195-217. 2008. PMID: 18358322.
Gaining insights in coronary disease genomics. Murray SS, Topol EJ. J Am Coll Cardiol. 52(5):385-386. 2008. PMID: 18652947.
Congenital disease SNPs target lineage specific structural elements in protein kinases. Torkamani A, Kannan N, Taylor SS, Schork NJ. Proc Natl Acad Sci. 105(26):9011-9016. 2008. PMID: 18579784.
Prediction of cancer driver mutations in protein kinases. Torkamani A, Schork NJ. Cancer Res. 68(6):1675-1682. 2008. PMID: 18339846.
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. PMID: 18252218.
Accurate prediction of deleterious protein kinase polymorphisms. Torkamani A, Schork NJ. Bioinformatics. 23(21):2918-2925. 2008. PMID: 17855419.