Publications

2015

How Consumers and Physicians View New Medical Technology: Comparative Survey. Boeldt DL, Wineinger NE, Waalen J, Gollamudi S, Grossberg A, Steinhubl SR, McCollister-Slipp A, Rogers MA, Silvers C, Topol EJ. J Med Internet Res. 2015, 14;17(9):e215. doi: 10.2196/jmir.4456. PMID: 26369254
Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver. Pham PH, Shipman WJ, Erikson GA, Schork NJ, Torkamani A. PLoS One. 2015, 10(2):e0116815. doi: 10.1371/journal.pone.0116815. PMID: 25706643
Differential skin test reactivity to pollens in pollen food allergy syndrome versus allergic rhinitis. Ta V, Scott DR, Chin WK, Wineinger NE, Kelso JM, White AA. Allergy Asthma Proc. 2015, 6(5):379-85. doi: 10.2500/aap.2015.36.3862.
PMID: 26314819
Unpatients-why patients should own their medical data. Kish LJ, Topol EJ. Nat Biotechnol. 2015, 33(9):921-4. doi: 10.1038/nbt.3340. PMID: 26348958
Symptom-driven idiopathic disease gene identification. Molparia B, Pham PH, Torkamani A. Genet Med. 2015. doi: 10.1038/gim.2014.202. [Epub ahead of print] PMID: 25590976
An Examination of the Relationship between Lipid Levels and Associated Genetic Markers across Racial/Ethnic Populations in the Multi-Ethnic Study of Atherosclerosis. Johnson L, Zhu J, Scott ER, Wineinger NE. PLoS One. 2015,10(5):e0126361. doi: 10.1371/journal.pone.0126361. PMID: 25951326
Maintenance of Certification Programs and the Interstate Medical Licensure Compact–Reply. Teirstein P, Topol EJ. JAMA. 2015, 314(9):952. doi: 10.1001/jama.2015.8912. PMID: 26325571
SG-ADVISER CNV: copy-number variant annotation and interpretation. Erikson GA, Deshpande N, Kesavan BG, Torkamani A. Genet Med. 2015, 17(9):714-8. doi: 10.1038/gim.2014.180. PMID: 25521334
A weighted polygenic risk score using 14 known susceptibility variants to estimate risk and age onset of psoriasis in Han Chinese. Yin X, Cheng H, Lin Y, Wineinger NE, Zhou F, Sheng Y, Yang C, Li P, Li F, Shen C, Yang S, Schork NJ, Zhang X. PLoS One. 2015, 10(5):e0125369. doi: 10.1371/journal.pone.0125369. PMID: 25933357
The big medical data miss: challenges in establishing an open medical resource. Topol EJ. Nat Rev Genet. 2015, 16(5):253-4. PMID: 26065035
The role of maintenance of certification programs in governance and professionalism. Teirstein PS, Topol EJ. JAMA. 2015, 313(18):1809-10. doi: 10.1001/jama.2015.3576. PMID: 25965219
The emerging field of mobile health. Steinhubl SR, Muse ED, Topol EJ. Sci Transl Med. 2015, 7(283):283rv3. doi: 10.1126/scitranslmed.aaa3487. PMID: 25877894
Cardiovascular and nervous system changes during meditation. Steinhubl SR, Wineinger NE, Patel S, Boeldt DL, Mackellar G, Porter V, Redmond JT, Muse ED, Nicholson L, Chopra D, Topol EJ. Front Hum Neurosci. 2015, 9:145. doi: 10.3389/fnhum.2015.00145. PMID: 25852526
Prescription Extraction from Clinical Notes: Towards Automating EMR Medication Reconciliation. Wang Y, Steinhubl SR, Defilippi C, Ng K, Ebadollahi S, Stewart WF, Byrd RJ. AMIA Jt Summits Transl Sci Proc. 2015, 188-93. PMID: 26306266
A genome sequencing program for novel undiagnosed diseases. Bloss CS, Zeeland AA, Topol SE, Darst BF, Boeldt DL, Erikson GA, Bethel KJ, Bjork RL, Friedman JR, Hwynn N, Patay BA, Pockros PJ, Scott ER, Simon RA, Williams GW, Schork NJ, Topol EJ, Torkamani A. Genet Med. 2015. doi: 10.1038/gim.2015.21. [Epub ahead of print] PMID: 25790160

2014

De novo KCNB1 mutations in epileptic encephalopathy. Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA. Ann Neurol. 2014 Oct;76(4):529-40. PMID: 25164438.
Oxidative stress diverts tRNA synthetase to nucleus for protection against NAdamage. WeiN, Shi Y, Truong LN, Fisch KM, Xu T, Gardiner E, Fu G, Hsu YS, Kishi S, Su AI, Wu X, Yang XL. Molecular Cell. 2014, 26(2):323-32. PMID: 25284223.
Prevalence of aspirin exacerbated respiratory disease among asthmatics: a meta-analysis of the literature. Rajan JP, Wineinger NE, Stevenson DD, White AA. J Allergy Clin Immunol. 2014 Oct 2. PMID: 25282015.
Organizing knowledge to enable personalization of medicine in cancer. Good BM, Ainscough BJ, McMichael JF, Su AI, Griffith OL. Genome Biology. 2014, 15:438. PMID: 25222080.
Sensitive, multiplex and direct quantification of RNA sequences using a modified RASL assay. Larman HB, Scott ER, Wogan M, Oliveira G, Torkamani A, Schultz PG. Nucleic Acids Res. 2014;42(14):9146-57. PMID: 25063296.
Functional Expression of Dental Plaque Microbiota. Peterson SN, Meissner T, Su AI, Snesrud E, Ong AC, Schork NJ, Bretz WA. Front. Cell. Infect. Microbiol. 2014, 4(108). PMID: 25177549.
Novel wireless devices for cardiac monitoring. Walsh JA 3rd, Topol EJ, Steinhubl SR. Circulation. 2014 Aug 12;130(7):573-81. PMID: 25114186.
Limestone: High-throughput candidate phenotype generation via tensor factorization. Ho JC, Ghosh J, Steinhubl S, Stewart W, Denny JC, Malin BA, Sun J. J Biomed Inform. 2014, Jul 16. pii: S1532-0464(14)00148-8. PMID: 25038555.
The Cure: Design and Evaluation of a Crowdsourcing Game for Gene Selection for Breast Cancer Survival Prediction. Good BM, Loguercio S, Griffith OL, Nanis M, Wu C, Su, AI. JMIR Serious Games. 2014, 2(2):e7.
ASXL1 and DNMT3A mutation in a cytogenetically normal B3 thymoma. Belani R, Oliveira G, Erikson GA, Ra S, Schechter MS, Lee JK, Shipman WJ, Haaser SM, Torkamani A. Oncogenesis. 2014 Jul 7;3:e111. PMID: 25000259.
Prevalence of heart failure signs and symptoms in a large primary care population identified through the use of text and data mining of the electronic health record. Vijayakrishnan R, Steinhubl SR, Ng K, Sun J, Byrd RJ, Daar Z, Williams BA, deFilippi C, Ebadollahi S, Stewart WF. J Card Fail. 2014, Jul;20(7):459-64. PMID: 24709663.
Multiple metabolic-related genetic risk scores and type-2 diabetes risk in three racial/ethnic groups. Klimentidis YC, Wineinger NE, Vazquez AI, de los Campos G. J Clin Endocinol Metab. 2014 Jun 6. PMID: 24905067.
Influence of Individual Differences in Disease Perception on Consumer Response to Direct-to-Consumer Genomic Testing. Boedlt DL, Schork NJ, Topol EJ, Bloss CS. Clinical Genetics. In press, 2014. PMID: 24798746.
Effect of aleglitazar on cardiovascular outcomes after acute coronary syndrome in patients with type 2 diabetes mellitus: the AleCardio randomized clinical trial. Lincoff AM, Tardif JC, Schwartz GG, et al. JAMA. 2014, 311(15):1515-25. PMID: 24682069.
Spontaneous subdural haemorrhage in a patient with scleroderma renal crisis. Bhangoo MS, Hein P, Nicholson L, Carter C. BMJ Case Rep. 2014 [published online 5 Sept 2014] PMID: 25193814.
Chip-based direct genotyping of coding variants in genome wide association studies: Utility, issues and prospects. Nievergelt CM, Wineinger NE, Libiger O, Pham P, Zhang G, McLay RN, Baker DG, Schork NJ. Gene. 2014 Apr 25;540(1):104-9. PMID: 24521671.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Brownstein CA, et al. Genome Biol. 2014 Mar 25;15(3):R53. [Epub ahead of print]. PMID: 24667040.
Implementation of Mobile Health Tools-Reply. Steinhubl SR, Muse ED, Topol EJ. JAMA, 311(14): 1448-1449, 2014. PMID: 24715085.
PARAMO: a PARAllel predictive Modeling platform for healthcare analytic research using electronic health records. Ng K, Ghoting A, Steinhubl SR, et al. J Biomed Inform. 2014, 48:160-70. PMID: 24370496.
Antiplatelet therapy in prevention of cardio- and venous thromboembolic events. Steinhubl SR, Eikelboom JW, Hylek EM, Dauerman HL, Smyth SS, Becker RC. J Thromb Thrombolysis. 2014, 37(3):362-71. PMID: 24221804.
Gain-of-Function ADCY5 mutations in familial dyskinesia with facial myokymia. Chen YZ, Friedman JR, Chen DH, Chan GCK, Bloss CS, Hisama FM, Topol S, et al. Annals of Neurology, 75(4): 542-549. PMID: 24700542.
Individualized Medicine: From Pre-Womb to Tomb. Topol EJ. Cell, 40th Anniversary Edition, 157(1): 241-253. PMID: 24679539.
Can Hospital Rounds With Pocket Echocardiography By Cardiologists Reduce Standard Transthoracic Echocardiography? Khan HA, Wineinger NE, Uddin PQ, Mehta HS, Rubenson DS, Topol EJ. American Journal of Medicine, 127(7): 669, 2014. PMID: 24674919.
Improving cardiovascular outcomes using electronic health records. Roumia M, Steinhubl S. Curr Cardiol Rep. 2014, 16(2):451. PMID: 24408676.
Personalized medicine: risk prediction, targeted therapies and mobile health technology. Hayes DF, Markus HS, Leslie RD, Topol EJ. BMC Medicine, 12: 37, 2014. PMID: 24580858.
Fluid phase biopsy for detection and characterization of circulating endothelial cells in myocardial infarction. Bethel K, Luttgen MS, Damani S, Kolatkar A, Lamy R, Sabouri-Ghomi M, Topol S, Topol EJ, Kuhn P. Physical Biology, 11(1):016002, 2014. PMID: 24406475.
Effect of genetic variation in P2Y12 on TRAP-stimulated platelet response in healthy subjects. Oestreich JH, Steinhubl SR, Ferraris SP, Loftin CD, Akers WS. J Thromb Thrombolysis. 2014, 38(3):372-9. PMID: 24510678.
Common variants explain a large fraction of the variability in the liability to psoriasis in a Han Chinese population. Yin X, Wineinger NE, Cheng H, Cui Y, Zhou F, Zuo X, Zheng X, Yang S, Schork NJ, Zhang X. BMC Genomics. 2014 Jan 30;15:87. PMID: 24479639.
Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation. Bloss CS, Schork NJ, Topol EJ. Journal of Medical Genetics, 51(2): 83-89, 2014. PMID: 24343916.
Comparison of 24 Hour Holter Monitoring Versus 14 Day Novel Adhesive Patch Electrocardiographic Monitoring. Barrett PM, Komatireddy R, Haaser S, Topol S, Sheard J, Encinas J, Fought AJ, Topol EJ. American Journal of Medicine, 127(1):95.e11-7, 2014. PMID: 24384108.

2013

Can health insurance improve employee health outcome and reduce cost? An evaluation of Geisinger’s employee health and wellness program. Maeng DD, Pitcavage JM, Tomcavage J, Steinhubl SR. J Occup Environ Med. 2013, 55(11):1271-5. PMID: 24202243.
Can mobile health technologies transform health care? Steinhubl SR, Muse ED, Topol EJ. JAMA, 310(22):2395-2396, 2013. PMID: 24158428.
Ten simple rules for cultivating open science and collaborative R&D. Masum H, Rao A, Good BM, Todd MH, Edwards AM, Chan L, Bunin BA, Su AI, Thomas Z, Bourne PE. PLoS Comput Biol. 9(9):e1003244. PMID: 24086123.
Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation. Paliwal A, Temkin AM, Kerkel K, Yale A, Yotova I, Drost N, Lax S, Nhan-Chang CL, Powell C, Borczuk A, Aviv A, Wapner R, Chen X, Nagy PL, Schork N, Do C, Torkamani A, Tycko B. PLoS Genet. 2013 Aug;9(8):e1003622. PMID: 24009515.
Identification of Regulatory Elements That Control PPARγ Expression in Adipocyte Progenitors. Chou WL, Galmozzi A, Partida D, Kwan K, Yeung H, Su AI, Saez E. PLoS One. 2013, 8(8):e72511. PMID: 24009687.
Platelet reactivity and clinical outcomes after coronary artery implantation of drug-eluting stents (ADAPT-DES): a prospective multicentre registry study. Stone GW, Witzenbichler B, Weisz G, et al. Lancet. 2013, 382(9892):614-23. PMID: 23890998.
Evidence for the role of EPHX2 gene variants in anorexia nervosa. Scott-Van Zeeland AA, Bloss CS, Tewhey R, Bansal V, Torkamani A, et al. Mol Psychiatry. 2013 Sep 3. doi: 10.1038/mp.2013.91. PMID: 23999524.
Unifying model for molecular determinants of the preselection Vβ repertoire. Gopalakrishnan S, Majumder K, Predeus A, Huang Y, Koues OI, Verma-Gaur J, Loguercio S, Su AI, Feeney AJ, Artyomov MN,Oltz EM. Proc Natl Acad Sci USA. 2013, 110(34):E3206-15. PMID: 23918392.
Gene Wiki Reviews: Marrying crowdsourcing with traditional peer review. Su AI, Good BM, van WijnenAJ. Gene. 2013, 531(2):125. PMID: 24012870.
Automatic identification of heart failure diagnostic criteria, using text analysis of clinical notes from electronic health records. Byrd RJ, Steinhubl SR, Sun J, Ebadollahi S, Stewart WF. Int J Med Inform. 2013, [Epub ahead of print] PMID: 23317809.
Deep sequencing of the murine IgH repertoire reveals complex regulation of nonrandom v gene rearrangement frequencies. Choi NM, Loguercio S, Verma-Gaur J, Degner SC, Torkamani A, Su AI, Oltz EM, Artyomov M, Feeney AJ. J Immunol. 2013 Sep 1;191(5):2393-402. doi: 10.4049/jimmunol.1301279. PMID: 23898036.
Crowdsourcing for Bioinformatics. Good BM, Su AI. Bioinformatics. 2013, 15;29(16):1925-33. PMID: 23782614.
Dizeez: an Online Game for Human Gene-Disease Annotation. Loguercio S, Good BM, Su AI. PLoS One. 2013, 8(8):e71171. PMID: 23951102.
Copy number variation associated with obesity related traits in African Americans: a joint analysis between GENOA and HyperGEN. Zhao W, Wineinger NE, Tiwari HK, Moseley TM, Broeckel U, Arnett DK, Kardia SL, Kabagambe EK, Sun YV. Obesity. 2012 Jun 22. PMID: 22836685.
Reshaping antibody diversity. Wang F, Ekiert DC, Ahmad I, Yu W, Zhang Y, Bazirgan O, Torkamani A, Raudsepp T, Mwangi W, Criscitiello MF, Wilson IA, Schultz PG, Smider VV. Cell. 2013 Jun 6;153(6):1379-93. PMID: 23746848.
Pharmacodynamic interplay of the P2Y(1), P2Y(12), and TxA(2) pathways in platelets: the potential of triple antiplatelet therapy with P2Y(1) receptor antagonism. Oestreich JH, Ferraris SP, Steinhubl SR, Akers WS. Thromb Res. 2013, 131(2):e64-70. PMID: 23245937.
Genomic copy number variations: Evidence for association with antibody response to anthrax vaccine adsorbed. Falola MI, Wiener HW, Wineinger NE, Cutter G, Kimberly RP, Edberg JC, Arnett DK, Kaslow RA, Tang J, Shrestha S. PLoS One. 2013 May 31;8(5). PMID: 23741398.
Genomic risk models improve prediction of longitudinal lipid levels in children and young adults. Wineinger NE, Harper A, Libiger O, Srinivasan SR, Chen W, Berenson GS, Schork NJ. Front Stat Gen Meth. 2013 May 21;4:86. PMID: 23734161.
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Gottesman O, Kuivaniemi H, Tromp G, et al. Genet Med. 2013, 15(10):761-71. PMID: 23743551.
All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs. Schork AJ, Thompson WK, Pham P, Torkamani A, et al. PLoS Genet. 2013 Apr;9(4):e1003449. PMID: 23637621.
Stress-independent activation of XBP1s and/or ATF6 reveals three functionally diverse ER proteostasis environments. Shoulders MD, Ryno LM, Genereux JC, Moresco JJ, Tu PG, Wu C, Yates JR 3rd, Su AI,Kelly JW, Wiseman RL. Cell Rep. 2013, 3(4):1279-92. PMID: 23583182
A task-based approach for Gene Ontology evaluation. Clarke EL, Loguercio S, Good BM, Su AI. J Biomed Semantics. 2013, 4 Suppl 1:S4. PMID: 23734599.
Pharmacogenetics: Point of Care Genetic Testing–A New Frontier Explored. Barrett PM, Topol EJ. Nature Reviews Cardiology, 9(6): 315-316, 2013. PMID: 22547169.
Evidence for the role of EPHX2 gene variants in anorexia nervosa. Scott-Van Zeeland AA, Bloss CS, Tewhey R, et al. Molecular Psychiatry,19(6): 724-732, 2013. PMID: 23999524.
From dissecting cadavers to dissecting genomes. Topol, EJ. Science Translational Medicine, 5(202): 202ed15, 2013. PMID: 24027024.
Development of a multi-institutional cohort to facilitate cardiovascular disease biomarker validation using existing biorepository samples linked to electronic health records. Cross DS, McCarty CA, Steinhubl SR, et al. Clin Cardiol. 2013, 36(8):486-91. PMID: 23740530.
Perceptions of Genetic Counseling Services in Direct-to-Consumer Personal Genomic Testing. Darst BF, Madlensky L, Schork NJ, Topol EJ, Bloss CS. Clinical Genetics, 84(4): 335-339, 2013. PMID: 23590221.
Impact of direct-to-consumer genomic testing at long-term follow-up. Bloss CS, Wineinger NE, Darst BF, Schork NJ, Topol EJ. Journal of Medical Genetics, 50(6): 393-400, 2013. PMID: 23559530.
Impact of Proton Pump Inhibitor Therapy on the Efficacy of Clopidogrel in the CAPRIE and CREDO Trials.Dunn SP, Steinhubl SR, Bauer D, Charnigo RJ, Berger PB, Topol EJ. Journal of the American Heart Association, 2(1): e004564, 2013. PMID: 23525436.
Ticagrelor: the first novel reversible P2Y(12) inhibitor. Htun WW, Steinhubl SR. Expert Opin Pharmacother. 2013, 14(2):237-45. PMID: 23268703.
Masquerade without a mass: an unusual cause of severe acute pancreatitis. To CA, Quigley MM, Saven A, Nicholson L. J Gastrointest Oncol. 2013; 4:114-7. PMID: 23450175.
Multi-allelic haplotype association identifies novel information different from single-SNP analysis: a new protective haplotype in the LRP8 gene is against familial and early-onset CAD and MI. Shen GQ, Girelli, Li L, Olivieri O, Martinelli N, Chen Q, Topol EJ. Wang QK. Gene, 521(1): 78-81, 2013. PMID: 23524007.
Characteristics of Genomic Test Consumers Who Spontaneously Share Results With Their Health Care Provider. Darst BF, Madlensky L, Schork NJ, Topol EJ, Bloss CS. Health Communications, 29(1): 105-108, 2013. PMID: 23384116.
Pharm-Econogenomics: A New Appraisal. Barrett PM, Topol EJ. Clinical Chemistry, 59(4): 592-594, 2013. PMID: 23378570.
Rebooting cancer tissue handling in the sequencing era: toward routine use of frozen tumor tissue. Goetz L, Bethel K, Topol EJ. JAMA, 309(1): 37-38, 2013. PMID: 23280221.
Dynamic J-Point Elevation Associated with Epileptic Hemiplegia: The Osborn Wave of Todd’s Paralysis.O’Connell E, Baker N, Dandamudi G, Steinhubl S. Case Rep Neurol. 2013, 5(1):6-9. PMID: 23466597.
Zone-specific gene expression patterns in articular cartilage. Grogan SP, Duffy SF, Pauli C, Koziol JA, Su AI, D’Lima DD, Lotz MK. Arthritis Rheum. 2012, PMID: 23124445.
A call to action: lowering the cost of health care. Smith JM, Topol E. American Journal of Preventative Medicine, 44(1): S54-57, 2013. PMID: 23195170.
BioGPS and MyGene.info: organizing online, gene-centric information. Wu C, Macleod I, Su AI. Nucleic Acids Res. 2013, 41(D1):D561-5. PMID: 23175613.
Succeeding as a clinician educator: useful tips and resources. Castiglioni A, Aagaard E, Spencer A, Nicholson L, Bates CK, Willett LL, Chheda SG. J Gen Intern Med. 2013;28:136-40. PMID: 22836953.

2012

Tcra gene recombination is supported by a Tcra enhancer- and CTCF-dependent chromatin hub. Shih HY, Verma-Gaur J, Torkamani A, Feeney AJ, Galjart N, Krangel MS. Proc Natl Acad Sci USA. 2012 Dec 11;109(50):E3493-502. doi:10.1073/pnas.1214131109. PMID: 23169622.
The evolution of dynamin to regulate clathrin-mediated endocytosis: Speculations on the evolutionarily late appearance of dynamin relative to clathrin- mediated endocytosis. Liu YW, Su AI, Schmid SL. Bioessays. 2012, PMID: 22592980.
Noncoding transcription within the Igh distal VH region at PAIR elements affects the 3D structure of the Igh locus in pro-B cells. Verma-Gaur J, Torkamani A, Schaffer L, Head SR, Schork NJ, Feeney AJ. Proc Natl Acad Sci USA. 2012 Oct 16;109(42):17004-9. PMID: 23027941.
Clinical implications of human population differences in genome-wide rates of functional genotypes.Torkamani A, Pham P, Libiger O, Bansal V, Zhang G, Scott-Van Zeeland AA, Tewhey R, Topol E, Schork N. Frontiers in Genetics 3: 211, 2012. PMID: 23125845.
A brief review of the past and future of platelet P2Y12 antagonist. Barn K, Steinhubl SR. Coron Artery Dis. 2012, 23(6):368-74. PMID: 22735090.
Pharmacogenomics in clinical practice and drug development. Harper AR, Topol EJ. Nature Biotechnology, 30(11): 1117-1124, 2012. PMID: 23138311.
Combining knowledge and data driven insights for identifying risk factors using electronic health records.Sun J, Hu J, Luo D, Markatou M, Wang F, Edabollahi S, Steinhubl SE, Daar Z, Stewart WF. AMIA Annu Symp Proc. 2012, 901-10. Epub 2012 Nov 3. PMID: 23304365.
A gene expression atlas of the domestic pig. Freeman TC, Ivens A, Baillie JK, Beraldi D, Barnett MW, Dorward D, Downing A, Fairbairn L, Kapetanovic R, Raza S, Tomoiu A, Alberio R, Wu C, Su AI, Summers KM, Tuggle CK, Archibald AL, Hume DA. BMC Biol. 2012, 10:90. PMID: 23153189.
Medicine Unplugged: The Future of Laboratory Medicine. Komatireddy R, Topol EJ. Clinical Chemistry, 58(12):1644-1647, 2012. PMID: 23071365.
BioGPS and GXD: mouse gene expression data-the benefits and challenges of data integration. Ringwald M, Wu C, Su AI. Mamm Genome. 2012, 23(9-10):550-8. PMID: 22847375.
Salivary biomarkers associated with myocardial necrosis: results from an alcohol septal ablation model. Foley JD 3rd, Sneed JD, Steinhubl SR, et al. Oral Surg Oral Med Oral Pathol Oral Radiol. 2012, 114(5):616-23. PMID: 23021916.
Identification of serum-derived sphingosine-1-phosphate as a small molecule regulator of yap. Miller E,Yang J, Deran M, Wu C, Su AI, Bonamy GM, Liu J, Peters EC, Wu X. Chem Biol. 2012,19(8):955-62. PMID: 22884261.
A gender-specific blood-based gene expression score for assessing obstructive coronary artery disease in nondiabetic patients: Results of the Personalized Risk Evaluation and Diagnosis in the Coronary Tree (PREDICT) Trial. Lansky A, Elashoff MR, Ng V, McPherson J, Lazar D, Kraus WE, Voros S, Schwartz RS, Topol EJ. American Heart Journal, 164(3): 320-326, 2012. PMID: 22980297.
Genetic structure of community acquired methicillin-resistant Staphylococcus aureus USA300. Tewhey R, Cannavino CR, Leake JA, Bansal V, Topol EJ, Torkamani A, Bradley JS, Schork NJ. BMC Genomics, 13(1): 508, 2012. PMID: 23009684.
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci. Asselbergs FW, Guo Y, van Iperen EP, et al. American Journal of Human Genetics, 91(5): 823-838, 2012. PMID: 23063622.
The illusion of “optimal” platelet inhibition. Steinhubl SR. JACC Cardiovasc Interv. 2012, 5(3):278-80. PMID: 22440492.
The fibrillin-1 gene: unlocking new therapeutic pathways in cardiovascular disease. Barrett PM, Topol EJ. Heart, 87(4): 308-311, 2012. PMID: 22942299.
The impact of errors in copy number variation detection algorithms on association results. Wineinger NE, Tiwari HK. PLoS One. 2012;7(4). PMID: 22523537.
Influence of genetic polymorphisms on the effect of high- and standard-dose clopidogrel after percutaneous coronary intervention: the GIFT (Genotype Information and Functional Testing) study. Price MJ, Murray SS, Angiolillo DJ, Lillie E, Smith EN, Tisch RL, Schork NJ, Teirstein PS, Topol EJ, GIFT Investigators. Journal of the American College of Cardiology, 59(22): 1928-1937, 2012. PMID: 22624833.
Efficient and sequence-independent replication of DNA containing a third base pair establishes a functional six-letter genetic alphabet. Malyshev DA, Dhami K, Quach HT, Lavergne T, Ordoukhanian P, Torkamani A, Romesberg FE. Proc Natl Acad Sci USA. 2012 Jul 24;109(30):12005-10. PMID: 22773812.
Embracing the future. We need another Flexner report to shake up and restructure healthcare. Van Gorder C, Topol E. Modern Healthcare, 42(20): 24, 2012. PMID: 22666968.
Pharmacogenetics: Point-of-care genetic testing: a new frontier explored. Barrett PM, Topol EJ. Nature Reviews Cardiology, 9(6): 315-316, 2012. PMID: 22547169.
Preparedness of the CTSA’s structural and scientific assets to support the mission of the National Center for Advancing Translational Sciences (NCATS). CTSA Principal Investigators, Shamoon H, Center D, Davis P, Tuchman M, et al. Clinical and Translational Science, 5(2): 121-129, 2012. PMID: 22507116.
The relationship between CYP2C19 polymorphisms and ischaemic and bleeding outcomes in stable outpatients: the CHARISMA genetics study. Bhatt DL, Paré G, Eikelboom JW, Simonsen KL, Emison ES, et al. European Heart Journal, 33(17): 2143-2150, 2012. PMID: 22450429.
Cardiovascular devices and platelet interactions: understanding the role of injury, flow, and cellular responses. Rowley JW, Finn AV, French PA, et al. Circ Cardiovasc Interv. 2012, 5(2):296-304. PMID: 22511738.
Bleeding-associated outcomes with preoperative clopidogrel use in on- andoff-pump coronary artery bypass. Berger JS, Herout PM, Harshaw Q, Steinhubl SR, Frye CB, Becker RC. J Thromb Thrombolysis. 2012, 34(1):56-64. PMID: 22350624.
Characterization of circulating endothelial cells in acute myocardial infarction. Damani S, Bacconi A, Libiger O, Chourasia AH, Serry R, et al. Science Translational Medicine, 4(126): 126ra33, 2012. PMID: 22440735.
Whole Blood Gene Expression Testing for Coronary Artery Disease in Nondiabetic Patients: Major Adverse Cardiovascular Events and Interventions in the PREDICT Trial. Rosenberg S, Elashoff MR, Lieu HD, Brown BO, Kraus WE, Schwartz RS, Voros S, Ellis SG, Waksman R, McPherson JA, Lansky AJ, Topol EJ, PREDICT Investigators. Journal of Cardiovascular and Translational Research, 5(3): 366-374, 2012. PMID: 22396313.
Oral fluids that detect cardiovascular disease biomarkers. Foley JD 3rd, Sneed JD, Steinhubl SR, et al. Oral Surg Oral Med Oral Pathol Oral Radiol. 2012, 114(2):207-14. PMID: 22769406.
Is there a clinically significant interaction between calcium channel antagonists and clopidogrel? Results from the Clopidogrel for the Reduction of Events During Observation (CREDO) trial. Good CW, Steinhubl SR, Brennan DM, Lincoff AM, Topol EJ, Berger PB. Circulation, Cardiovascular Intervention, 5(1): 77-81, 2012. PMID: 22319066.
Linking genes to diseases with a SNPedia-Gene Wiki mashup. Good BM, Clarke EL, Loguercio S, Su AI. J Biomed Semantics. 2012, 3 Suppl 1:S6. PMID: 22541597.
Dual or Mono Antiplatelet Therapy for Patients With Acute Ischemic Stroke or Transient Ischemic Attack: Systematic Review and Meta-Analysis of Randomized Controlled Trials. Geeganage CM, Diener HC, Algra A, Chen C, Topol EJ, et al. Stroke, 43(4): 1058-1066, 2012. PMID: 22282894.
Bridging antiplatelet therapy with cangrelor in patients undergoing cardiac surgery: a randomized controlled trial. Angiolillo DJ, Firstenberg MS, Price MJ, Tummala PE, Hutyra M, Welsby IJ, Voeltz MD, Chandna H, Ramaiah C, Brtko M, Cannon L, Dyke C, Liu T, Montalescot G, Manoukian SV, Prats J, Topol EJ, BRIDGE Investigators. JAMA, 307(3): 265-274, 2012. PMID: 22253393.
Genome-wide association of implantable cardioverter-defibrillator activation with life threatening arrhythmias. Murray SS, Smith EN, Villarasa N, Nahey T, Lande J, Goldberg H, Shaw M, Rosenthal L, Ramza B, Alaeddini J, Han X, Damani S, Soykan O, Kowal RC, Topol EJ; GAME Investigators. PLoS One, 7(1): e25387, 2012. PMID: 22247754.
Skewed primary igκ repertoire and v-j joining in C57BL/6 mice: implications for recombination accessibility and receptor editing. Aoki-Ota M, Torkamani A, Ota T, Schork N, Nemazee D. J Immunol. 2012 Mar 1;188(5):2305-15. PMID: 22287713.

2011

Genomic information as a behavioral health intervention: can it work? Bloss CS, Madlensky L, Schork NJ, Topol EJ. Per. Med. 8(6): 659-667, 2011. PMID: 22199991.
The unmet need of education in genomic medicine. Patay BA, Topol EJ. American Journal of Medicine,125(1): 5-6. PMID: 22195527.
Age-related somatic structural changes in the nuclear genome of human blood cells. Forsberg LA, Rasi C, Razzaghian HR, Pakalapati G, Waite L, Thilbeault KS, Ronowicz A, Wineinger NE, et al. Am J Hum Genet. 2012 Feb 10;90(2):217-28. PMID: 22305530.
Comparative gene expression analysis between coronary arteries and internal mammary arteries identifies a role for the TES gene in endothelial cell functions relevant to coronary artery disease. Archacki SR, Angheloiu G, Moravec CS, Liu H, Topol EJ, Wang QK. Human Molecular Genetics, 21(6): 1364-1373, 2012. PMID: 22156939.
Association of direct-to-consumer genome-wide disease risk estimates and self-reported disease. Bloss CS, Topol EJ, Schork NJ. Genetic Epidemiology, 36(1): 66-70 2012. PMID: 22127769.
Comparison of incidence of bleeding and mortality of men versus women with ST-elevation myocardial infarction treated with fibrinolysis. Mehta RH, Stebbins AS, Lopes RD, Califf RM, Pieper KS, Armstrong PW, Van de Werf F, Hochman JS, White HD, Topol EJ, Alexander JH, Granger CB. American Journal of Cardiology, 109(3): 320-326, 2012. PMID: 22078221.
The Gene Wiki in 2011: community intelligence applied to human gene annotation. Good BM, Clarke EL, de Alfaro L, Su AI. Nucleic Acids Res. 2012, 40(1):D1255-61. PMID: 22075991.
Characterization of autosomal CNVs in African Americans: the HyperGEN study. Wineinger NE, Pajewski N, Kennedy R, Wojcznski MK, et al. Eur J Hum Genet. 2011 Dec;19(12):1271-5. PMID: 21673747.
Games with a scientific purpose. Good BM, Su AI. Genome Biol. 2011, 12(12):135. PMID: 22204700.
Mining the Gene Wiki for functional genomic knowledge. Good BM, Howe DG, Lin SM, Kibbe WA, Su AI. BMC Genomics. 2011,12(1):603. PMID: 22165947.
CAFET Algorithm Reveals Wnt/PCP Signature in Lung Squamous Cell Carcinoma. Hu Y,Galkin AV, Wu C, Reddy V, Su AI. PLoS One. 2011, 6(10): e25807. PMID: 22016777.
Mobile-izing healthcare. Wireless technologies will continue to revolutionize the industry. Topol E. Modern Healthcare, Suppl: 52, 2011. PMID: 21938791.
Whole genome sequences of a male and female supercentenarian, ages greater than 114 years. Sebastiani P, Riva A, Montano M, Pham P, Torkamani A, et al. Front Genet. 2011;2:90. Epub 2012 Jan 3. PMID: 22303384.
Direct-to-consumer genetic testing: reliable or risky? Spencer DH, Lockwood C, Topol E, Evans JP, Green RC, Mansfield E, Tezak Z. Clinical Chemistry, 57(12): 1641-1644, 2011. PMID: 21885623.
Platelet reactivity and cardiovascular outcomes after percutaneous coronary intervention: a time-dependent analysis of the Gauging Responsiveness with a VerifyNow P2Y12 assay: Impact on Thrombosis and Safety (GRAVITAS) trial. Price MJ, Angiolillo DJ, Teirstein PS, Lillie E, Manoukian SV, Berger PB,Tanguay JF, Cannon CP, Topol EJ. Circulation, 124(10): 1132-1137, 2011. PMID: 21875913.
Annotating individual human genomes. Torkamani A, Scott-Van Zeeland AA, Topol EJ, Schork NJ. Genomics, 98(4): 233-241, 2011. PMID: 21839162.
Genome wide detection of allele specific copy number variation associated with diabetes related traits in African Americans from the HyperGEN study. Irvin MR, Wineinger NE, Pajewski NM, Kabagambe EK, Gu CC, et al. PLoS One. 2011;6(8). PMID: 21901158.
Phenotype-information-phenotype cycle for deconvolution of combinatorial antibody libraries selected against complex systems. Zhang H, Torkamani A, Jones TM, Ruiz DI, Pons J, Lerner RA. Proc Natl Acad Sci USA. 2011 Aug 8. [Epub ahead of print]. PMID: 21825149.
Background gene expression networks significantly enhance drug response prediction by transcriptional profiling. Torkamani A, Schork NJ. Pharmacogenomics J. 2011 Aug 9. doi: 10.1038/tpj.2011.35. [Epub ahead of print]. PMID: 21826086.
Acute pancreatitis: should we use antibiotics? Nicholson LJ. Curr Gastroenterol Rep. 2011;13:336-43. PMID: 21607652.
Ectopic B-cell clusters that infiltrate transplanted human kidneys are clonal. Cheng J, Torkamani A, Grover RK, Jones TM, Ruiz DI, Schork NJ, Quigley MM, Hall FW, Salomon DR, Lerner RA. Proc Natl Acad Sci USA. 2011 Apr 5;108(14):5560-5. PMID: 21415369.
Direct-to-consumer personalized genomic testing. Bloss CS, Darst BF, Topol EJ, Schork NJ. Human Molecular Genetics, 20(R2): R132-41, 2011. PMID: 21828075.
Bleeding, mortality, and antiplatelet therapy: results from the Clopidogrel for High Atherothrombotic Risk and Ischemic Stabilization, Management, and Avoidance (CHARISMA) trial. Berger JS, Bhatt DL, Steg PG, Steinhubl SR, Montalescot G, Shao M, Hacke W, Fox KA, Berger PB, Topol EJ, Lincoff AM. American Heart Journal, 162(1): 98-105.e1, 2011. PMID: 21742095.
Application of microdroplet PCR for large-scale targeted bisulfite sequencing. Komori HK, LaMere SA, Torkamani A, Hart GT, Kotsopoulos S, Warner J, Samuels ML, Olson J, Head SR, Ordoukhanian P, Lee PL, Link DR, Salomon DR. Genome Res. 2011 Jul 14. [Epub ahead of print]. PMID: 21757609.
CCCTC-binding factor (CTCF) and cohesin influence the genomic architecture of the Igh locus and antisense transcription in pro-B cells. Degner SC, Verma-Gaur J, Wong TP, Bossen C, Iverson GM, Torkamani A, et al. Proc Natl Acad Sci USA. 2011 Jun 7;108(23):9566-71. PMID: 21606361.
The lost decade of nesiritide. Topol EJ. New England Journal of Medicine, 365 (1): 81-2, 2011. PMID: 21732841.
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. PMID: 21727291.
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.
A method to assess linkage disequilibrium between CNVs and SNPs inside copy number variable regions. Wineinger NE, Pajewski NM, Tiwari HK. Front Genet. 2011 Apr 25;2(17). PMID: 21660233.
Ectopic B-cell clusters that infiltrate transplanted human kidneys are clonal.Cheng J, Torkamani A, Grover RK, et. al. Proc Natl Acad Sci, 108(14): 5560-5565, 2011. PMID: 21415360.
The importance of phase information for human genomics. Tewhey R, Bansal V, Torkamani A, Topol EJ, Schork NJ. Nat Rev Genet. 2011 Feb 8. [Epub ahead of print]. PMID: 21301473.
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.
Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. Wineinger NE, Patki A, Meyers KJ, Broeckel U, et al. BMC Med Gemonics. 2011 Jan 11;4:4. PMID: 21223598.
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.

2010

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, Pang D, Salas M, Kratz A, Minden M, Murty V, Zigman WB, Mayeux RP, Jenkins EC, Torkamani A, et al. PLoS Genet. 2010 Nov 18;6(11):e1001212. PMID: 21124956.
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.
LPA receptors: subtypes and biological actions. Choi JW, Herr DR, Noguchi K, Yung YC, Lee CW, Mutoh T,et al. Ann Rev Pharmacol Toxicol. 50:157-186. 2010 Feb. PMID: 2005570.
Kinase mutations in human disease: interpreting genotype-phenotype relationships. Lahiry P, Torkamani A, Schork NJ, Hegele RA. Nat Rev Genet. 11(1): 60-74. 2010 Jan. PMID: 20019687.
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.

2009

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.
Insulin causes hyperthermia by direct inhibition of warm-sensitive neurons. Sanchez-Alavez M, Tabarean IV, Osborn O, Mitsukawa K, Schaefer J, Dubins J, et al. Diabetes. 59(1): 43-50. 2009. PMID:19846801.
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.

2008

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.
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, et al. PLoS ONE. 3(10):e3583. 2008. PMID: 18974833.
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.

Translational Research

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2008