Published in J Am Med Inform Assoc on September 03, 2013
Electronic health records-driven phenotyping: challenges, recent advances, and perspectives. J Am Med Inform Assoc (2013) 1.85
Text mining for adverse drug events: the promise, challenges, and state of the art. Drug Saf (2014) 1.22
Functional evaluation of out-of-the-box text-mining tools for data-mining tasks. J Am Med Inform Assoc (2014) 1.10
Birth month affects lifetime disease risk: a phenome-wide method. J Am Med Inform Assoc (2015) 0.97
Development and validation of a classification approach for extracting severity automatically from electronic health records. J Biomed Semantics (2015) 0.89
Implications of non-stationarity on predictive modeling using EHRs. J Biomed Inform (2015) 0.85
Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. PLoS One (2016) 0.85
Learning statistical models of phenotypes using noisy labeled training data. J Am Med Inform Assoc (2016) 0.83
Natural Language Processing for EHR-Based Pharmacovigilance: A Structured Review. Drug Saf (2017) 0.83
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Are All Vaccines Created Equal? Using Electronic Health Records to Discover Vaccines Associated With Clinician-Coded Adverse Events. AMIA Jt Summits Transl Sci Proc (2015) 0.78
Improving condition severity classification with an efficient active learning based framework. J Biomed Inform (2016) 0.76
In Search of 'Birth Month Genes': Using Existing Data Repositories to Locate Genes Underlying Birth Month-Disease Relationships. AMIA Jt Summits Transl Sci Proc (2016) 0.75
A knowledge-based, automated method for phenotyping in the EHR using only clinical pathology reports. AMIA Jt Summits Transl Sci Proc (2015) 0.75
Data Driven Approach to Burden of Treatment Measurement: A Study of Patients with Breast Cancer. AMIA Annu Symp Proc (2017) 0.75
Replicating Cardiovascular Condition-Birth Month Associations. Sci Rep (2016) 0.75
Enterotypes of the human gut microbiome. Nature (2011) 24.36
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Reverse engineering of regulatory networks in human B cells. Nat Genet (2005) 13.16
Identifying patient smoking status from medical discharge records. J Am Med Inform Assoc (2007) 10.35
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics (2010) 7.07
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Next-generation phenotyping of electronic health records. J Am Med Inform Assoc (2012) 3.41
Comparing ICD9-encoded diagnoses and NLP-processed discharge summaries for clinical trials pre-screening: a case study. AMIA Annu Symp Proc (2008) 3.00
Building a robust, scalable and standards-driven infrastructure for secondary use of EHR data: the SHARPn project. J Biomed Inform (2012) 2.97
Neurocognitive endophenotypes in a multiplex multigenerational family study of schizophrenia. Am J Psychiatry (2007) 2.84
Identifying smokers with a medical extraction system. J Am Med Inform Assoc (2007) 2.54
Heterogeneity of Parkinson's disease in the early clinical stages using a data driven approach. J Neurol Neurosurg Psychiatry (2005) 2.54
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Development and validation of an electronic health record-based chronic kidney disease registry. Clin J Am Soc Nephrol (2010) 2.35
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An evaluation of the NQF Quality Data Model for representing Electronic Health Record driven phenotyping algorithms. AMIA Annu Symp Proc (2012) 2.29
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Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. Circulation (2013) 2.06
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Importance of multi-modal approaches to effectively identify cataract cases from electronic health records. J Am Med Inform Assoc (2012) 1.79
Endophenotypes as quantitative risk factors for psychiatric disease: rationale and study design. Am J Med Genet (2001) 1.78
Towards integrated clinico-genomic models for personalized medicine: combining gene expression signatures and clinical factors in breast cancer outcomes prediction. Hum Mol Genet (2003) 1.51
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The SHARPn project on secondary use of Electronic Medical Record data: progress, plans, and possibilities. AMIA Annu Symp Proc (2011) 1.32
Barriers to health care access among the elderly and who perceives them. Am J Public Health (2004) 1.28
Novel integration of hospital electronic medical records and gene expression measurements to identify genetic markers of maturation. Pac Symp Biocomput (2008) 1.27
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A real-time screening alert improves patient recruitment efficiency. AMIA Annu Symp Proc (2011) 1.22
ICD-9 tobacco use codes are effective identifiers of smoking status. J Am Med Inform Assoc (2013) 1.22
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Clinical subtypes of Parkinson's disease. Mov Disord (2010) 1.18
Eye colour: portals into pigmentation genes and ancestry. Trends Genet (2004) 1.17
Complex-disease networks of trait-associated single-nucleotide polymorphisms (SNPs) unveiled by information theory. J Am Med Inform Assoc (2012) 1.17
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Protein-network modeling of prostate cancer gene signatures reveals essential pathways in disease recurrence. J Am Med Inform Assoc (2011) 1.12
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Osteoporosis: integrating biomarkers and other diagnostic correlates into the management of bone fragility. Altern Med Rev (2007) 1.06
Population physiology: leveraging electronic health record data to understand human endocrine dynamics. PLoS One (2012) 1.03
Deep phenotyping to predict live birth outcomes in in vitro fertilization. Proc Natl Acad Sci U S A (2010) 1.03
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Network theory to understand microarray studies of complex diseases. Curr Mol Med (2006) 0.92
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Electronic health records: Implications for drug discovery. Drug Discov Today (2011) 0.87
Clinical arrays of laboratory measures, or "clinarrays", built from an electronic health record enable disease subtyping by severity. AMIA Annu Symp Proc (2007) 0.87
Latent physiological factors of complex human diseases revealed by independent component analysis of clinarrays. BMC Bioinformatics (2010) 0.87
Subtyping depression: testing algorithms and identification of a tiered model. J Nerv Ment Dis (1999) 0.87
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Baubles, bangles, and biotypes: a critical review of the use and abuse of the biotype concept. J Insect Sci (2010) 0.81
Evaluation considerations for EHR-based phenotyping algorithms: A case study for drug-induced liver injury. AMIA Jt Summits Transl Sci Proc (2013) 0.81
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Automating the study of population variation of electrocardiographic features. Circulation (2013) 0.76
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Automated encoding of clinical documents based on natural language processing. J Am Med Inform Assoc (2004) 11.48
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
The genome of the sea urchin Strongylocentrotus purpuratus. Science (2006) 6.41
Detecting adverse events using information technology. J Am Med Inform Assoc (2003) 6.25
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
A temporal constraint structure for extracting temporal information from clinical narrative. J Biomed Inform (2005) 4.42
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet (2009) 4.11
An accurate mass tag strategy for quantitative and high-throughput proteome measurements. Proteomics (2002) 4.10
Methods and dimensions of electronic health record data quality assessment: enabling reuse for clinical research. J Am Med Inform Assoc (2012) 4.03
Automated detection of adverse events using natural language processing of discharge summaries. J Am Med Inform Assoc (2005) 3.77
A public resource facilitating clinical use of genomes. Proc Natl Acad Sci U S A (2012) 3.72
The evaluation of a temporal reasoning system in processing clinical discharge summaries. J Am Med Inform Assoc (2007) 3.71
Active computerized pharmacovigilance using natural language processing, statistics, and electronic health records: a feasibility study. J Am Med Inform Assoc (2009) 3.62
Regulation of Fto/Ftm gene expression in mice and humans. Am J Physiol Regul Integr Comp Physiol (2008) 3.49
Mapping abbreviations to full forms in biomedical articles. J Am Med Inform Assoc (2002) 3.29
Temporal reasoning with medical data--a review with emphasis on medical natural language processing. J Biomed Inform (2007) 3.21
Global analysis of the Deinococcus radiodurans proteome by using accurate mass tags. Proc Natl Acad Sci U S A (2002) 3.15
Enalapril in infants with single ventricle: results of a multicenter randomized trial. Circulation (2010) 3.13
Automated acquisition of disease drug knowledge from biomedical and clinical documents: an initial study. J Am Med Inform Assoc (2007) 3.09
Columbia University's Informatics for Diabetes Education and Telemedicine (IDEATel) Project: rationale and design. J Am Med Inform Assoc (2001) 3.06
Extracting structured medication event information from discharge summaries. AMIA Annu Symp Proc (2008) 3.06
Comparing ICD9-encoded diagnoses and NLP-processed discharge summaries for clinical trials pre-screening: a case study. AMIA Annu Symp Proc (2008) 3.00
System architecture for temporal information extraction, representation and reasoning in clinical narrative reports. AMIA Annu Symp Proc (2005) 2.93
Caveats for the use of operational electronic health record data in comparative effectiveness research. Med Care (2013) 2.89
Mining a clinical data warehouse to discover disease-finding associations using co-occurrence statistics. AMIA Annu Symp Proc (2005) 2.75
Quantitative proteome analysis of human plasma following in vivo lipopolysaccharide administration using 16O/18O labeling and the accurate mass and time tag approach. Mol Cell Proteomics (2005) 2.50
The sublanguage of cross-coverage. Proc AMIA Symp (2002) 2.50
Reversed-phase chromatography with multiple fraction concatenation strategy for proteome profiling of human MCF10A cells. Proteomics (2011) 2.44
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
Fully automated four-column capillary LC-MS system for maximizing throughput in proteomic analyses. Anal Chem (2007) 2.38
Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol (2009) 2.31
Models of consent to return of incidental findings in genomic research. Hastings Cent Rep (2014) 2.25
Detecting adverse events for patient safety research: a review of current methodologies. J Biomed Inform (2003) 2.20
Analysis of error concentrations in SNOMED. AMIA Annu Symp Proc (2007) 2.18
A review of auditing methods applied to the content of controlled biomedical terminologies. J Biomed Inform (2009) 2.18
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. Circ Cardiovasc Genet (2012) 2.16
Genetic testing preferences in families containing multiple individuals with epilepsy. Epilepsia (2014) 2.15
Gene symbol disambiguation using knowledge-based profiles. Bioinformatics (2007) 2.13
Glycogen storage disease type III diagnosis and management guidelines. Genet Med (2010) 2.13
Inter-patient distance metrics using SNOMED CT defining relationships. J Biomed Inform (2006) 2.12
Electronic screening improves efficiency in clinical trial recruitment. J Am Med Inform Assoc (2009) 2.05
The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve (2014) 2.02
Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles. Gastroenterology (2011) 2.01
Use of artificial neural networks for the accurate prediction of peptide liquid chromatography elution times in proteome analyses. Anal Chem (2003) 2.00
Development, implementation, and a cognitive evaluation of a definitional question answering system for physicians. J Biomed Inform (2007) 1.98
Using health information exchange to improve public health. Am J Public Health (2011) 1.97
Utilizing human blood plasma for proteomic biomarker discovery. J Proteome Res (2005) 1.96
Pancreatic cancer screening in a prospective cohort of high-risk patients: a comprehensive strategy of imaging and genetics. Clin Cancer Res (2010) 1.92
Accelerating the use of electronic health records in physician practices. N Engl J Med (2010) 1.89
Ultrasensitive and quantitative analyses from combined separations-mass spectrometry for the characterization of proteomes. Acc Chem Res (2004) 1.88
EIF2AK4 mutations in pulmonary capillary hemangiomatosis. Chest (2014) 1.88
Genetic loss of SH2B3 in acute lymphoblastic leukemia. Blood (2013) 1.87
Bos taurus genome assembly. BMC Genomics (2009) 1.83
Secondary Use of EHR: Data Quality Issues and Informatics Opportunities. AMIA Jt Summits Transl Sci Proc (2010) 1.81
Columbia University's Informatics for Diabetes Education and Telemedicine (IDEATel) project: technical implementation. J Am Med Inform Assoc (2001) 1.80
Proteomic analyses using an accurate mass and time tag strategy. Biotechniques (2004) 1.80
The role of domain knowledge in automating medical text report classification. J Am Med Inform Assoc (2003) 1.76
Using EHRs to integrate research with patient care: promises and challenges. J Am Med Inform Assoc (2012) 1.74
Direct mass spectrometric analysis of intact proteins of the yeast large ribosomal subunit using capillary LC/FTICR. Proc Natl Acad Sci U S A (2002) 1.72
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet (2013) 1.66
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet (2012) 1.63
Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet (2012) 1.63
High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. Clin Cancer Res (2013) 1.63
Of truth and pathways: chasing bits of information through myriads of articles. Bioinformatics (2002) 1.56
Application of peptide LC retention time information in a discriminant function for peptide identification by tandem mass spectrometry. J Proteome Res (2004) 1.56
Conformational pathways in the gating of Escherichia coli mechanosensitive channel. Proc Natl Acad Sci U S A (2002) 1.56
Clinical decision support and electronic prescribing systems: a time for responsible thought and action. J Am Med Inform Assoc (2005) 1.55
Protein identification using top-down. Mol Cell Proteomics (2011) 1.50
Genomewide pharmacogenetics of bisphosphonate-induced osteonecrosis of the jaw: the role of RBMS3. Oncologist (2012) 1.50
Researchers' views on return of incidental genomic research results: qualitative and quantitative findings. Genet Med (2013) 1.48
Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease. Cardiol Young (2007) 1.47
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. Cardiol Young (2011) 1.44
Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics. J Gen Physiol (2013) 1.44
A statistical methodology for analyzing co-occurrence data from a large sample. J Biomed Inform (2006) 1.43
Comparison of endoscopic and clinical characteristics of patients with familial and sporadic Barrett's esophagus. Dig Dis Sci (2011) 1.43
Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther (2011) 1.42
Defining and measuring completeness of electronic health records for secondary use. J Biomed Inform (2013) 1.40
Automated real-time detection and notification of positive infection cases. AMIA Annu Symp Proc (2006) 1.39
Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome. Genet Test Mol Biomarkers (2011) 1.39
A comparison of the Charlson comorbidities derived from medical language processing and administrative data. Proc AMIA Symp (2002) 1.38
The future state of clinical data capture and documentation: a report from AMIA's 2011 Policy Meeting. J Am Med Inform Assoc (2012) 1.38
Differential label-free quantitative proteomic analysis of Shewanella oneidensis cultured under aerobic and suboxic conditions by accurate mass and time tag approach. Mol Cell Proteomics (2006) 1.36
High-pH reversed-phase chromatography with fraction concatenation for 2D proteomic analysis. Expert Rev Proteomics (2012) 1.35
Semi-Automatically Inducing Semantic Classes of Clinical Research Eligibility Criteria Using UMLS and Hierarchical Clustering. AMIA Annu Symp Proc (2010) 1.33
Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail (2012) 1.32
Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology (2012) 1.31
Opportunities for genomic clinical decision support interventions. Genet Med (2013) 1.31
Repurposing the clinical record: can an existing natural language processing system de-identify clinical notes? J Am Med Inform Assoc (2008) 1.31
Preparation of 20-microm-i.d. silica-based monolithic columns and their performance for proteomics analyses. Anal Chem (2005) 1.31
Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society. Circulation (2015) 1.30
Auditing complex concepts of SNOMED using a refined hierarchical abstraction network. J Biomed Inform (2011) 1.29
A centralized research data repository enhances retrospective outcomes research capacity: a case report. J Am Med Inform Assoc (2013) 1.29
Dynamic categorization of clinical research eligibility criteria by hierarchical clustering. J Biomed Inform (2011) 1.29
Clinical documentation: composition or synthesis? J Am Med Inform Assoc (2012) 1.28
Assessing explicit error reporting in the narrative electronic medical record using keyword searching. J Biomed Inform (2003) 1.28
Targeted comparative proteomics by liquid chromatography-tandem Fourier ion cyclotron resonance mass spectrometry. Anal Chem (2005) 1.28