Published in J Biomed Inform on December 27, 2011
Validation of electronic health record phenotyping of bipolar disorder cases and controls. Am J Psychiatry (2014) 1.79
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet Med (2013) 1.54
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
Applications of Business Analytics in Healthcare. Bus Horiz (2014) 1.25
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc (2015) 1.20
Practical challenges in integrating genomic data into the electronic health record. Genet Med (2013) 1.14
Report of the AMIA EHR-2020 Task Force on the status and future direction of EHRs. J Am Med Inform Assoc (2015) 1.11
Genetic data and electronic health records: a discussion of ethical, logistical and technological considerations. J Am Med Inform Assoc (2013) 1.03
Characterizing genetic variants for clinical action. Am J Med Genet C Semin Med Genet (2014) 1.02
Clinical genomics in the world of the electronic health record. Genet Med (2013) 1.01
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet (2015) 0.97
The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information. J Pers Med (2013) 0.97
Translation of genetics research to clinical medicine: the National Heart, Lung, and Blood Institute perspective. Circ Cardiovasc Genet (2013) 0.89
EHR Big Data Deep Phenotyping. Contribution of the IMIA Genomic Medicine Working Group. Yearb Med Inform (2014) 0.89
Incorporation of personal single nucleotide polymorphism (SNP) data into a national level electronic health record for disease risk assessment, part 1: an overview of requirements. JMIR Med Inform (2014) 0.85
Community-level determinants of obesity: harnessing the power of electronic health records for retrospective data analysis. BMC Med Inform Decis Mak (2014) 0.84
A proposed clinical decision support architecture capable of supporting whole genome sequence information. J Pers Med (2014) 0.83
Design and implementation of a randomized controlled trial of genomic counseling for patients with chronic disease. J Pers Med (2014) 0.81
Clinical decision support for whole genome sequence information leveraging a service-oriented architecture: a prototype. AMIA Annu Symp Proc (2014) 0.81
Integrating pharmacogenomics into electronic health records with clinical decision support. Am J Health Syst Pharm (2016) 0.79
Biobanking and translation of human genetics and genomics for infectious diseases. Appl Transl Genom (2014) 0.79
A conceptual model for translating omic data into clinical action. J Pathol Inform (2015) 0.78
Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association. Circ Cardiovasc Genet (2016) 0.77
An informatics research agenda to support precision medicine: seven key areas. J Am Med Inform Assoc (2016) 0.77
Ancillary study management systems: a review of needs. BMC Med Inform Decis Mak (2013) 0.76
The genomic CDS sandbox: An assessment among domain experts. J Biomed Inform (2016) 0.76
Implementing Genomic Clinical Decision Support for Drug-Based Precision Medicine. CPT Pharmacometrics Syst Pharmacol (2017) 0.75
Automatic Placement of Genomic Research Results in Medical Records: Do Researchers Have a Duty? Should Participants Have a Choice? J Law Med Ethics (2015) 0.75
An Extended SNOMED CT Concept Model for Observations in Molecular Genetics. AMIA Annu Symp Proc (2017) 0.75
Rethinking the role and impact of health information technology: informatics as an interventional discipline. BMC Med Inform Decis Mak (2016) 0.75
A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine. EGEMS (Wash DC) (2016) 0.75
Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Medical Record. Curr Genet Med Rep (2014) 0.75
Preserving an integrated view of informatics. J Am Med Inform Assoc (2013) 0.75
The sequence of the human genome. Science (2001) 101.55
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
Ten commandments for effective clinical decision support: making the practice of evidence-based medicine a reality. J Am Med Inform Assoc (2003) 11.87
A standard variation file format for human genome sequences. Genome Biol (2010) 7.83
Effects of current and future information technologies on the health care workforce. Health Aff (Millwood) (2002) 3.98
Factors affecting general practitioners' recruitment of patients into a prospective study. Fam Pract (1993) 2.97
Analysis of next-generation genomic data in cancer: accomplishments and challenges. Hum Mol Genet (2010) 2.39
The genome-enabled electronic medical record. J Biomed Inform (2006) 2.25
Evaluation of factors affecting awareness of and willingness to participate in cancer clinical trials. J Clin Oncol (2005) 2.10
The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing. Hum Mutat (2011) 2.08
Recent advances in apoptosis, mitochondria and drug resistance in cancer cells. Biochim Biophys Acta (2011) 2.00
MammaPrint 70-gene signature: another milestone in personalized medical care for breast cancer patients. Expert Rev Mol Diagn (2009) 1.89
Human genome: Genomes by the thousand. Nature (2010) 1.88
Picture archiving and communication systems: an overview. Radiographics (1992) 1.65
Pathophysiology of sickle cell disease: role of cellular and genetic modifiers. Semin Hematol (2001) 1.38
Microarray-based determination of estrogen receptor, progesterone receptor, and HER2 receptor status in breast cancer. Clin Cancer Res (2009) 1.33
Analysis of gene expression patterns and chromosomal changes associated with aging. Cancer Res (2004) 1.32
Efficiency of CYP2C9 genetic test representation for automated pharmacogenetic decision support. Methods Inf Med (2009) 1.06
Incorporating personalized gene sequence variants, molecular genetics knowledge, and health knowledge into an EHR prototype based on the Continuity of Care Record standard. J Biomed Inform (2011) 0.98
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet Med (2012) 9.65
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics (2011) 9.20
Discovering statistically significant pathways in expression profiling studies. Proc Natl Acad Sci U S A (2005) 8.75
A signature of chromosomal instability inferred from gene expression profiles predicts clinical outcome in multiple human cancers. Nat Genet (2006) 7.16
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Analysis of matched mRNA measurements from two different microarray technologies. Bioinformatics (2002) 7.07
Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74
The Shared Health Research Information Network (SHRINE): a prototype federated query tool for clinical data repositories. J Am Med Inform Assoc (2009) 6.49
A mega-analysis of genome-wide association studies for major depressive disorder. Mol Psychiatry (2012) 6.34
Creation and implications of a phenome-genome network. Nat Biotechnol (2006) 5.79
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
Tectonic shifts in the health information economy. N Engl J Med (2008) 5.42
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol (2013) 4.85
Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. Am J Med Genet A (2006) 4.56
Spectral changes in cortical surface potentials during motor movement. J Neurosci (2007) 4.53
Sequence-matched probes produce increased cross-platform consistency and more reproducible biological results in microarray-based gene expression measurements. Nucleic Acids Res (2004) 4.43
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37
Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study. J Am Med Inform Assoc (2011) 4.20
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am J Hum Genet (2011) 3.85
Cluster analysis of gene expression dynamics. Proc Natl Acad Sci U S A (2002) 3.83
Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A (2007) 3.72
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
Redefinition of Affymetrix probe sets by sequence overlap with cDNA microarray probes reduces cross-platform inconsistencies in cancer-associated gene expression measurements. BMC Bioinformatics (2005) 3.66
Genomic research and wide data sharing: views of prospective participants. Genet Med (2010) 3.45
Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. Genet Med (2012) 3.29
Glad you asked: participants' opinions of re-consent for dbGap data submission. J Empir Res Hum Res Ethics (2010) 3.29
Recommendations for returning genomic incidental findings? We need to talk! Genet Med (2013) 3.23
MAPPER: a search engine for the computational identification of putative transcription factor binding sites in multiple genomes. BMC Bioinformatics (2005) 3.23
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet (2011) 3.07
The landscape of recombination in African Americans. Nature (2011) 3.06
No small change for the health information economy. N Engl J Med (2009) 2.92
Candidate gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet (2010) 2.91
Systematic survey reveals general applicability of "guilt-by-association" within gene coexpression networks. BMC Bioinformatics (2005) 2.83
Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis. Am J Respir Crit Care Med (2008) 2.64
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci U S A (2002) 2.60
National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health. Ann Intern Med (2009) 2.58
Variation in the gene encoding the serotonin 2A receptor is associated with outcome of antidepressant treatment. Am J Hum Genet (2006) 2.55
Network-based analysis of affected biological processes in type 2 diabetes models. PLoS Genet (2007) 2.54
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet (2012) 2.53
The tell-tale heart: population-based surveillance reveals an association of rofecoxib and celecoxib with myocardial infarction. PLoS One (2007) 2.52
Quantifying the relationship between co-expression, co-regulation and gene function. BMC Bioinformatics (2004) 2.51
The SMART Platform: early experience enabling substitutable applications for electronic health records. J Am Med Inform Assoc (2012) 2.48
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Presence of intraplaque hemorrhage stimulates progression of carotid atherosclerotic plaques: a high-resolution magnetic resonance imaging study. Circulation (2005) 2.36
Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J (2003) 2.30
A submission model for use in the indexing, searching, and retrieval of distributed pathology case and tissue specimens. Stud Health Technol Inform (2004) 2.28
Minimal haplotype tagging. Proc Natl Acad Sci U S A (2003) 2.28
Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. J Thorac Cardiovasc Surg (2003) 2.25
Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics (2003) 2.20
Prediction of chronic obstructive pulmonary disease (COPD) in asthma patients using electronic medical records. J Am Med Inform Assoc (2009) 2.20
Periventricular leukomalacia is common after neonatal cardiac surgery. J Thorac Cardiovasc Surg (2004) 2.19
Conserved mechanisms across development and tumorigenesis revealed by a mouse development perspective of human cancers. Genes Dev (2004) 2.16
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet (2010) 2.15
Comprehensive dissection of PDGF-PDGFR signaling pathways in PDGFR genetically defined cells. PLoS One (2008) 2.10
The FDA and genomic tests--getting regulation right. N Engl J Med (2015) 2.09
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med (2013) 2.08
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. Circulation (2013) 2.06
The PING personally controlled electronic medical record system: technical architecture. J Am Med Inform Assoc (2004) 2.01
Rapid identification of myocardial infarction risk associated with diabetes medications using electronic medical records. Diabetes Care (2009) 2.00
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. Hum Genet (2011) 2.00
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96
A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. Am J Hum Genet (2005) 1.96
Escaping the EHR trap--the future of health IT. N Engl J Med (2012) 1.96
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium. PLoS Genet (2011) 1.94
Finding the missing link for big biomedical data. JAMA (2014) 1.90
European ancestry as a risk factor for atrial fibrillation in African Americans. Circulation (2010) 1.90
A self-scaling, distributed information architecture for public health, research, and clinical care. J Am Med Inform Assoc (2007) 1.88
Transcriptomic analysis of human lung development. Am J Respir Crit Care Med (2009) 1.87
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet (2013) 1.82
Data use under the NIH GWAS data sharing policy and future directions. Nat Genet (2014) 1.82
Perioperative stroke in infants undergoing open heart operations for congenital heart disease. Ann Thorac Surg (2009) 1.82
SHRINE: enabling nationally scalable multi-site disease studies. PLoS One (2013) 1.80
The MAPPER database: a multi-genome catalog of putative transcription factor binding sites. Nucleic Acids Res (2005) 1.80
Does collocation inform the impact of collaboration? PLoS One (2010) 1.78
Determination of paraoxonase 1 status without the use of toxic organophosphate substrates. Circ Cardiovasc Genet (2008) 1.76
Meeting the governance challenges of next-generation biorepository research. Sci Transl Med (2010) 1.75
Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). PLoS Genet (2011) 1.75
Arterial remodeling in [corrected] subclinical carotid artery disease. JACC Cardiovasc Imaging (2009) 1.74
Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg (2007) 1.71
The asthma kiosk: a patient-centered technology for collaborative decision support in the emergency department. J Am Med Inform Assoc (2004) 1.70
A unified inference procedure for a class of measures to assess improvement in risk prediction systems with survival data. Stat Med (2012) 1.70
Parents as partners in obtaining the medication history. J Am Med Inform Assoc (2005) 1.67
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. Am J Hum Genet (2011) 1.66
The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg (2005) 1.65
People and organizational issues in research systems implementation. J Am Med Inform Assoc (2008) 1.63
Optimal deconvolution of transcriptional profiling data using quadratic programming with application to complex clinical blood samples. PLoS One (2011) 1.62
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. Trials (2014) 1.62
A system for sharing routine surgical pathology specimens across institutions: the Shared Pathology Informatics Network. Hum Pathol (2007) 1.59
Effect of acute aldosterone administration on gene expression profile in the heart. Endocrinology (2006) 1.58
Antidepressant response in patients with major depression exposed to NSAIDs: a pharmacovigilance study. Am J Psychiatry (2012) 1.57
Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome. Pediatrics (2008) 1.55
Genome-wide association studies of the PR interval in African Americans. PLoS Genet (2011) 1.53