Published in J Am Med Inform Assoc on May 10, 2011
iDASH: integrating data for analysis, anonymization, and sharing. J Am Med Inform Assoc (2011) 2.51
AMIA Board white paper: definition of biomedical informatics and specification of core competencies for graduate education in the discipline. J Am Med Inform Assoc (2012) 2.40
DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes. Database (Oxford) (2015) 1.71
Calibrating predictive model estimates to support personalized medicine. J Am Med Inform Assoc (2011) 1.59
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet Med (2013) 1.54
Rise and demise of bioinformatics? Promise and progress. PLoS Comput Biol (2012) 1.25
G-DOC: a systems medicine platform for personalized oncology. Neoplasia (2011) 1.18
Clinical research informatics: a conceptual perspective. J Am Med Inform Assoc (2012) 1.06
Recent trends in biomedical informatics: a study based on JAMIA articles. J Am Med Inform Assoc (2013) 1.05
Big data and biomedical informatics: a challenging opportunity. Yearb Med Inform (2014) 1.02
Personalized medicine: challenges and opportunities for translational bioinformatics. Per Med (2013) 0.98
Data analysis and data mining: current issues in biomedical informatics. Methods Inf Med (2011) 0.93
Computationally translating molecular discoveries into tools for medicine: translational bioinformatics articles now featured in JAMIA. J Am Med Inform Assoc (2011) 0.92
I-spline Smoothing for Calibrating Predictive Models. AMIA Jt Summits Transl Sci Proc (2012) 0.88
Clinical Bioinformatics: challenges and opportunities. BMC Bioinformatics (2012) 0.87
Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts. BMC Bioinformatics (2016) 0.84
Translational research in infectious disease: current paradigms and challenges ahead. Transl Res (2012) 0.83
An integrated, ontology-driven approach to constructing observational databases for research. J Biomed Inform (2015) 0.83
Clinical decision support systems for improving diagnostic accuracy and achieving precision medicine. J Clin Bioinforma (2015) 0.82
Making it personal: translational bioinformatics. J Am Med Inform Assoc (2013) 0.82
Bioinformatics as a driver, not a passenger, of translational biomedical research: Perspectives from the 6th Benelux bioinformatics conference. J Clin Bioinforma (2012) 0.81
Neonatal Informatics: Transforming Neonatal Care Through Translational Bioinformatics. Neoreviews (2012) 0.79
Applications of systems approaches in the study of rheumatic diseases. Korean J Intern Med (2015) 0.79
Rethinking biobanking and translational medicine in the Netherlands: how the research process stands to matter for patient care. Eur J Hum Genet (2014) 0.78
People, organizational, and leadership factors impacting informatics support for clinical and translational research. BMC Med Inform Decis Mak (2013) 0.77
Improving diagnostic recognition of primary hyperparathyroidism with machine learning. Surgery (2016) 0.76
Translational informatics: an industry perspective. J Am Med Inform Assoc (2012) 0.76
Doubly Optimized Calibrated Support Vector Machine (DOC-SVM): an algorithm for joint optimization of discrimination and calibration. PLoS One (2012) 0.75
Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Medical Record. Curr Genet Med Rep (2014) 0.75
Identifying natural health product and dietary supplement information within adverse event reporting systems. Pac Symp Biocomput (2018) 0.75
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The human disease network. Proc Natl Acad Sci U S A (2007) 19.58
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
The NCBI dbGaP database of genotypes and phenotypes. Nat Genet (2007) 17.93
NCBI GEO: archive for functional genomics data sets--10 years on. Nucleic Acids Res (2010) 14.38
Practice-based research--"Blue Highways" on the NIH roadmap. JAMA (2007) 14.18
Network medicine: a network-based approach to human disease. Nat Rev Genet (2011) 14.07
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
Global reconstruction of the human metabolic network based on genomic and bibliomic data. Proc Natl Acad Sci U S A (2007) 11.46
Drug-target network. Nat Biotechnol (2007) 11.15
Clinical assessment incorporating a personal genome. Lancet (2010) 10.18
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics (2011) 9.20
Launching HITECH. N Engl J Med (2009) 7.89
Systems biology approach predicts immunogenicity of the yellow fever vaccine in humans. Nat Immunol (2008) 7.18
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature (2010) 6.26
The personal genome project. Mol Syst Biol (2005) 5.47
Instrumenting the health care enterprise for discovery research in the genomic era. Genome Res (2009) 4.13
A window into third-generation sequencing. Hum Mol Genet (2010) 4.07
Genomic medicine--an updated primer. N Engl J Med (2010) 3.48
Genomic and personalized medicine: foundations and applications. Transl Res (2009) 3.24
Clinical research informatics: challenges, opportunities and definition for an emerging domain. J Am Med Inform Assoc (2009) 3.11
GeneTests-GeneClinics: genetic testing information for a growing audience. Hum Mutat (2002) 2.97
Translational bioinformatics: coming of age. J Am Med Inform Assoc (2008) 2.81
The human genome project: past, present, and future. Science (1990) 2.63
An evaluation of the current state of genomic data privacy protection technology and a roadmap for the future. J Am Med Inform Assoc (2004) 2.60
Data integration and genomic medicine. J Biomed Inform (2006) 2.55
Synergy between medical informatics and bioinformatics: facilitating genomic medicine for future health care. J Biomed Inform (2004) 2.25
Annotation and query of tissue microarray data using the NCI Thesaurus. BMC Bioinformatics (2007) 2.03
PharmGKB: the pharmacogenetics and pharmacogenomics knowledge base. Methods Mol Biol (2005) 1.80
Biomedical informatics and translational medicine. J Transl Med (2010) 1.72
Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. Am J Epidemiol (2008) 1.53
Ten years on--the human genome and medicine. N Engl J Med (2010) 1.52
The thousand-dollar genome. Genetic brinkmanship or personalized medicine? EMBO Rep (2007) 1.20
Microbiome project seeks to understand human body's microscopic residents. JAMA (2008) 1.08
DSGeo: software tools for cross-platform analysis of gene expression data in GEO. J Biomed Inform (2010) 0.92
Information holds medicine together. MD Comput (1987) 0.89
Interactive instruction on population interactions. Comput Biol Med (1978) 0.86
On track? Using the Human Genome Epidemiology Roadmap. Public Health Genomics (2010) 0.80
Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role of PGC1 and NRF1. Proc Natl Acad Sci U S A (2003) 17.10
Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell (2012) 12.32
Clinical assessment incorporating a personal genome. Lancet (2010) 10.18
Performance comparison of exome DNA sequencing technologies. Nat Biotechnol (2011) 7.11
Analysis of matched mRNA measurements from two different microarray technologies. Bioinformatics (2002) 7.07
Ten years of pathway analysis: current approaches and outstanding challenges. PLoS Comput Biol (2012) 6.38
Ontology-driven indexing of public datasets for translational bioinformatics. BMC Bioinformatics (2009) 6.31
Performance comparison of whole-genome sequencing platforms. Nat Biotechnol (2011) 5.79
Discovery and preclinical validation of drug indications using compendia of public gene expression data. Sci Transl Med (2011) 5.77
Computational repositioning of the anticonvulsant topiramate for inflammatory bowel disease. Sci Transl Med (2011) 5.30
The use of receiver operating characteristic curves in biomedical informatics. J Biomed Inform (2005) 4.88
Cell type-specific gene expression differences in complex tissues. Nat Methods (2010) 4.75
Genomic analysis of mouse retinal development. PLoS Biol (2004) 4.66
An Environment-Wide Association Study (EWAS) on type 2 diabetes mellitus. PLoS One (2010) 4.42
A sequence-oriented comparison of gene expression measurements across different hybridization-based technologies. Nat Biotechnol (2006) 3.68
FoxO3 regulates neural stem cell homeostasis. Cell Stem Cell (2009) 3.54
Natural language processing: an introduction. J Am Med Inform Assoc (2011) 3.50
Issues in biomedical research data management and analysis: needs and barriers. J Am Med Inform Assoc (2007) 3.36
Expression-based genome-wide association study links the receptor CD44 in adipose tissue with type 2 diabetes. Proc Natl Acad Sci U S A (2012) 3.27
Network-based elucidation of human disease similarities reveals common functional modules enriched for pluripotent drug targets. PLoS Comput Biol (2010) 3.23
Predicting accurate probabilities with a ranking loss. Proc Int Conf Mach Learn (2012) 3.22
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet (2011) 3.20
Logistic regression and artificial neural network classification models: a methodology review. J Biomed Inform (2003) 3.11
GeneTests-GeneClinics: genetic testing information for a growing audience. Hum Mutat (2002) 2.97
Challenges in the clinical application of whole-genome sequencing. Lancet (2010) 2.92
Systematic survey reveals general applicability of "guilt-by-association" within gene coexpression networks. BMC Bioinformatics (2005) 2.83
Twist1-induced invadopodia formation promotes tumor metastasis. Cancer Cell (2011) 2.77
Prediction of preadipocyte differentiation by gene expression reveals role of insulin receptor substrates and necdin. Nat Cell Biol (2005) 2.68
Hematopoietic stem cell quiescence is maintained by compound contributions of the retinoblastoma gene family. Cell Stem Cell (2008) 2.67
Incorporating ideas from computer-supported cooperative work. J Biomed Inform (2004) 2.61
Computerized recruiting for clinical trials in real time. Ann Emerg Med (2003) 2.59
Data integration and genomic medicine. J Biomed Inform (2006) 2.55
Exploiting drug-disease relationships for computational drug repositioning. Brief Bioinform (2011) 2.52
Quantifying the relationship between co-expression, co-regulation and gene function. BMC Bioinformatics (2004) 2.51
Progressive histological damage in renal allografts is associated with expression of innate and adaptive immunity genes. Kidney Int (2011) 2.50
AILUN: reannotating gene expression data automatically. Nat Methods (2007) 2.47
A drug repositioning approach identifies tricyclic antidepressants as inhibitors of small cell lung cancer and other neuroendocrine tumors. Cancer Discov (2013) 2.46
MicroRNA profiling of human-induced pluripotent stem cells. Stem Cells Dev (2009) 2.44
Systematic evaluation of environmental factors: persistent pollutants and nutrients correlated with serum lipid levels. Int J Epidemiol (2012) 2.42
Snail2 is an essential mediator of Twist1-induced epithelial mesenchymal transition and metastasis. Cancer Res (2011) 2.29
On the persistence of supplementary resources in biomedical publications. BMC Bioinformatics (2006) 2.27
Dynamic microRNA expression programs during cardiac differentiation of human embryonic stem cells: role for miR-499. Circ Cardiovasc Genet (2010) 2.24
Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics (2003) 2.20
A nutrient-wide association study on blood pressure. Circulation (2012) 2.19
Conserved mechanisms across development and tumorigenesis revealed by a mouse development perspective of human cancers. Genes Dev (2004) 2.16
Information theory applied to the sparse gene ontology annotation network to predict novel gene function. Bioinformatics (2007) 2.15
Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association. PLoS One (2010) 2.10
Leveraging models of cell regulation and GWAS data in integrative network-based association studies. Nat Genet (2012) 2.02
Resident documentation discrepancies in a neonatal intensive care unit. Pediatrics (2003) 1.99
Autoimmune disease classification by inverse association with SNP alleles. PLoS Genet (2009) 1.96
Reviewing social media use by clinicians. J Am Med Inform Assoc (2012) 1.96
A nationwide adaptive prediction tool for coronary heart disease prevention. Br J Gen Pract (2003) 1.93
Disease signatures are robust across tissues and experiments. Mol Syst Biol (2009) 1.93
Grid Binary LOgistic REgression (GLORE): building shared models without sharing data. J Am Med Inform Assoc (2012) 1.92
Network modeling identifies molecular functions targeted by miR-204 to suppress head and neck tumor metastasis. PLoS Comput Biol (2010) 1.92
Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis. Aging Cell (2004) 1.87
No-reflow is an independent predictor of death and myocardial infarction after percutaneous coronary intervention. Am Heart J (2003) 1.87
Use of consomic rats for genomic insights into ventilator-associated lung injury. Am J Physiol Lung Cell Mol Physiol (2007) 1.86
Information Visualization Techniques in Bioinformatics during the Postgenomic Era. Drug Discov Today Biosilico (2004) 1.85
In silico research in the era of cloud computing. Nat Biotechnol (2010) 1.81
Comparison of hybridization-based and sequencing-based gene expression technologies on biological replicates. BMC Genomics (2007) 1.77
Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation. Am J Hum Genet (2012) 1.75
SHARE: system design and case studies for statistical health information release. J Am Med Inform Assoc (2012) 1.72
Using statistical and machine learning to help institutions detect suspicious access to electronic health records. J Am Med Inform Assoc (2011) 1.70
Ethnic differences in the relationship between insulin sensitivity and insulin response: a systematic review and meta-analysis. Diabetes Care (2013) 1.70
Protein microarrays identify antibodies to protein kinase Czeta that are associated with a greater risk of allograft loss in pediatric renal transplant recipients. Kidney Int (2009) 1.68
A survey of informatics platforms that enable distributed comparative effectiveness research using multi-institutional heterogenous clinical data. Med Care (2012) 1.63
People and organizational issues in research systems implementation. J Am Med Inform Assoc (2008) 1.63
Translational bioinformatics in the cloud: an affordable alternative. Genome Med (2010) 1.61
Enabling integrative genomic analysis of high-impact human diseases through text mining. Pac Symp Biocomput (2008) 1.61
Calibrating predictive model estimates to support personalized medicine. J Am Med Inform Assoc (2011) 1.59
The BioMediator system as a data integration tool to answer diverse biologic queries. Stud Health Technol Inform (2004) 1.58
FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease. Genome Biol (2008) 1.58
Identification of complex metabolic states in critically injured patients using bioinformatic cluster analysis. Crit Care (2010) 1.55
Predicting environmental chemical factors associated with disease-related gene expression data. BMC Med Genomics (2010) 1.55
Type 2 diabetes risk alleles demonstrate extreme directional differentiation among human populations, compared to other diseases. PLoS Genet (2012) 1.55
Microarrays and clinical dentistry. J Am Dent Assoc (2003) 1.53
SMART--an integrated wireless system for monitoring unattended patients. J Am Med Inform Assoc (2007) 1.51
Diagnostic accuracy of chest X-rays acquired using a digital camera for low-cost teleradiology. Int J Med Inform (2004) 1.49
Incorporating collaboratory concepts into informatics in support of translational interdisciplinary biomedical research. Int J Med Inform (2008) 1.49
ImmPort: disseminating data to the public for the future of immunology. Immunol Res (2014) 1.48
Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus. Hum Genet (2013) 1.48
Identifying compartment-specific non-HLA targets after renal transplantation by integrating transcriptome and "antibodyome" measures. Proc Natl Acad Sci U S A (2009) 1.47
A common rejection module (CRM) for acute rejection across multiple organs identifies novel therapeutics for organ transplantation. J Exp Med (2013) 1.47
Supratentorial low-grade glioma resectability: statistical predictive analysis based on anatomic MR features and tumor characteristics. Radiology (2006) 1.42
EXpectation Propagation LOgistic REgRession (EXPLORER): distributed privacy-preserving online model learning. J Biomed Inform (2013) 1.38
Essential role of pre-B-cell colony enhancing factor in ventilator-induced lung injury. Am J Respir Crit Care Med (2008) 1.38
Mining OMIM for insight into complex diseases. Stud Health Technol Inform (2004) 1.37
A community assessment of privacy preserving techniques for human genomes. BMC Med Inform Decis Mak (2014) 1.37
Concept mapping to develop a framework for characterizing Electronic Data Capture (EDC) Systems. AMIA Annu Symp Proc (2008) 1.37
Dynamism in gene expression across multiple studies. Physiol Genomics (2009) 1.36
Implementation of a deidentified federated data network for population-based cohort discovery. J Am Med Inform Assoc (2011) 1.35
The discriminatory cost of ICD-10-CM transition between clinical specialties: metrics, case study, and mitigating tools. J Am Med Inform Assoc (2013) 1.35
The "etiome": identification and clustering of human disease etiological factors. BMC Bioinformatics (2009) 1.35
Evaluation and integration of 49 genome-wide experiments and the prediction of previously unknown obesity-related genes. Bioinformatics (2007) 1.34
Realizing the full potential of electronic health records: the role of natural language processing. J Am Med Inform Assoc (2011) 1.33
SNPit: a federated data integration system for the purpose of functional SNP annotation. Comput Methods Programs Biomed (2009) 1.33
Tissue- and age-specific changes in gene expression during disease induction and progression in NOD mice. Clin Immunol (2008) 1.33