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List of works by Isaac Kohane

(Mis)treating the pharmacogenetic incidentalome

A 21st-Century Health IT System - Creating a Real-World Information Economy

scientific article published on May 2017

A Bayesian dynamic model for influenza surveillance

A Bayesian dynamic model for influenza surveillance.

scientific article

A Glimpse of the Next 100 Years in Medicine

A Java-based multi-institutional medical information retrieval system ⬇️

scientific article published on January 1, 1997

A SNP-centric database for the investigation of the human genome

scientific article

A clinical perspective on the relevance of research domain criteria in electronic health records

scientific article published in April 2015

A computer simulation of the hypothalamic-pituitary-adrenal axis.

scientific article published on January 1994

A conceptual model for translating omic data into clinical action

scientific article

A database of human exposomes and phenomes from the US National Health and Nutrition Examination Survey

scientific article

A gene expression profile of stem cell pluripotentiality and differentiation is conserved across diverse solid and hematopoietic cancers ⬇️

scientific article published on August 21, 2012

A genome-wide screen reveals functional gene clusters in the cancer genome and identifies EphA2 as a mitogen in glioblastoma

scientific article published on 6 November 2006

A mega-analysis of genome-wide association studies for major depressive disorder

scientific article

A microRNA-1280/JAG2 network comprises a novel biological target in high-risk medulloblastoma

scientific article

A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia

scientific article published on 10 August 2020

A novel approach to investigate tissue-specific trinucleotide repeat instability

scientific article

A one-page summary report of genome sequencing for the healthy adult

scientific article

A practical platform for blood biomarker study by using global gene expression profiling of peripheral whole blood

scientific article

A real time patient monitoring system on the World Wide Web.

scientific article

A self-scaling, distributed information architecture for public health, research, and clinical care

scientific article

A set of genes previously implicated in the hypoxia response might be an important modulator in the rat ear tissue response to mechanical stretch

scientific article

A signature of chromosomal instability inferred from gene expression profiles predicts clinical outcome in multiple human cancers

scientific article published on 20 August 2006

A submission model for use in the indexing, searching, and retrieval of distributed pathology case and tissue specimens.

scientific article published on January 2004

A system for sharing routine surgical pathology specimens across institutions: the Shared Pathology Informatics Network

scientific article published on 8 May 2007

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

scientific article

A translational engine at the national scale: informatics for integrating biology and the bedside ⬇️

scientific article published on November 10, 2011

A unified inference procedure for a class of measures to assess improvement in risk prediction systems with survival data ⬇️

scientific article published on October 5, 2012

A web-based tool to retrieve human genome polymorphisms from public databases.

scientific article

Absence of evidence for increase in risk for autism or attention-deficit hyperactivity disorder following antidepressant exposure during pregnancy: a replication study.

scientific article published on 05 January 2016

Absolute enrichment: gene set enrichment analysis for homeostatic systems

scientific article

Accessing genomic data through XML-based remote procedure calls

scientific article

Against simple universal health-care identifiers

scientific article

An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders

scientific article

An electronic health records study of long-term weight gain following antidepressant use.

scientific article

An epidemiological network model for disease outbreak detection

scientific article (publication date: June 2007)

An unsupervised classification method for inferring original case locations from low-resolution disease maps

scientific article

An unsupervised self-optimizing gene clustering algorithm.

scientific article

Analysis and robot pipelined automation for SELDI-TOF mass spectrometry

scientific article published in January 2004

Analysis of gene expression in a developmental context emphasizes distinct biological leitmotifs in human cancers

scientific article published on 8 July 2008

Analysis of matched mRNA measurements from two different microarray technologies

scientific article

Antidepressant Response in Patients With Major Depression Exposed to NSAIDs: A Pharmacovigilance Study ⬇️

scientific article published on October 1, 2012

Apps to display patient data, making SMART available in the i2b2 platform ⬇️

scientific article published on November 3, 2012

Architecture of the open-source clinical research chart from Informatics for Integrating Biology and the Bedside.

scientific article published on 11 October 2007

Are Meaningful Use Stage 2 certified EHRs ready for interoperability? Findings from the SMART C-CDA Collaborative

scientific article

Artifact detection in cardiovascular time series monitoring data from preterm infants

scientific article

Association between low density lipoprotein and rheumatoid arthritis genetic factors with low density lipoprotein levels in rheumatoid arthritis and non-rheumatoid arthritis controls

scientific article published on 28 May 2013

Association between reduced plasma 25-hydroxy vitamin D and increased risk of cancer in patients with inflammatory bowel diseases

scientific article published on 23 October 2013

Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings

scientific article published on 25 September 2017

Association of Whole-Genome and NETRIN1 Signaling Pathway–Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank

scholarly article by Miruna C. Barbu et al published July 2018 in Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls

scientific article published on March 2013

Auditory brainstem response in infants and children with autism spectrum disorder: A meta-analysis of wave V.

scientific article

Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations ⬇️

scientific article published on January 22, 2011

Automating the study of population variation of electrocardiographic features

scientific article published on 5 March 2013

Availability and quality of paraffin blocks identified in pathology archives: a multi-institutional study by the Shared Pathology Informatics Network (SPIN).

scientific article

Bayesian Clustering of Gene Expression Dynamics

article

Bayesian approach to discovering pathogenic SNPs in conserved protein domains

scientific article published in August 2004

Biases in electronic health record data due to processes within the healthcare system: retrospective observational study.

scientific article published on 30 April 2018

BioN∅T: A searchable database of biomedical negated sentences ⬇️

scientific article published on October 27, 2011

Bioinformatics and clinical informatics: the imperative to collaborate

scientific article published on September 2000

Building ICU artifact detection models with more data in less time

scientific article

Building national electronic medical record systems via the World Wide Web

scientific article

CHIP TUNER: a web tool for evidence-based noise reduction in gene discovery.

scientific article published on January 2002

COUNTERPOINT: Do not opine before it's time ⬇️

scientific article published on March 1, 2011

Calculating the return on investment of mobile healthcare

scientific article

Cambogin Is Preferentially Cytotoxic to Cells Expressing PDGFR ⬇️

scientific article published on June 21, 2011

Can we measure autism?

scientific article

Can we use linear Gaussian networks to model dynamic interactions among genes? Results from a simulation study

article

Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders

scientific article

Characterization of patients who suffer asthma exacerbations using data extracted from electronic medical records.

scientific article

Chromosomes 18 and X are quantitative trait loci for nephrotic-range proteinuria in rats

scientific article

Clinical Genome Sequencing

article

Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates

scientific article published on 29 February 2016

Cluster analysis of gene expression dynamics

scientific article

Colonoscopy is associated with a reduced risk for colon cancer and mortality in patients with inflammatory bowel diseases

scientific article

Combining clinical and genomics queries using i2b2 - Three methods

scientific article

Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients"

scientific article

Common Genetic Variants Influence Circulating Vitamin D Levels in Inflammatory Bowel Diseases

scientific article

Comorbidity clusters in autism spectrum disorders: an electronic health record time-series analysis

scientific article published on 09 December 2013

Comparative Effectiveness of Infliximab and Adalimumab in Crohn's Disease and Ulcerative Colitis

scientific article published on March 2016

Comparative RNA editing in autistic and neurotypical cerebella.

scientific article

Comparative analysis of neurological disorders focuses genome-wide search for autism genes

scientific article

Comparing expression profiles of genes with similar promoter regions

scientific article published in December 2002

Comprehensive dissection of PDGF-PDGFR signaling pathways in PDGFR genetically defined cells

scientific article

Computational analysis of non-adherence and non-attendance using the text of narrative physician notes in the electronic medical record

scientific article published on June 2007

Computer-based Patient Records

Computerized reminders to physicians in the emergency department: a web-based system to report late-arriving abnormal laboratory results.

scientific article published on January 2002

Conserved mechanisms across development and tumorigenesis revealed by a mouse development perspective of human cancers

scientific article published on March 2004

Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role of PGC1 and NRF1

scientific article

Correction: DNA Dynamics Is Likely to Be a Factor in the Genomic Nucleotide Repeats Expansions Related to Diseases.

scientific article

Correction: Tissue and Process Specific microRNA–mRNA Co-Expression in Mammalian Development and Malignancy

scientific article published on 12 May 2009

Correction: What Are the Benefits and Risks of Fitting Patients with Radiofrequency Identification Devices?

scientific article published on 5 February 2008

Corticotropin releasing hormone increases apparent potency of adrenocorticotropic hormone stimulation of cortisol secretion ⬇️

scientific article published on November 1, 2001

Creating a data resource: what will it take to build a medical information commons?

scientific article published on 22 September 2017

Creation and implications of a phenome-genome network

scientific article published on January 2006

CrossChip: a system supporting comparative analysis of different generations of Affymetrix arrays

scientific article

Cytotoxic diarylheptanoid induces cell cycle arrest and apoptosis via increasing ATF3 and stabilizing p53 in SH-SY5Y cells

scientific article published on 03 October 2008

DITTO - a tool for identification of patient cohorts from the text of physician notes in the electronic medical record

scientific article

DNA dynamics is likely to be a factor in the genomic nucleotide repeats expansions related to diseases

scientific article

DNA hypermethylation in lung cancer is targeted at differentiation-associated genes ⬇️

scientific article published on March 1, 2012

Data mining by clinicians.

scientific article

Data re-identification: societal safeguards

scientific article published on March 2013

Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex

scientific article published on 17 October 2018

Deeper, longer phenotyping to accelerate the discovery of the genetic architectures of diseases

article by Isaac Kohane published 2014 in Genome Biology

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia

scientific article

Designing a Public Square for Research Computing ⬇️

scientific article (publication date: 29 August 2012)

Detecting drug interactions from adverse-event reports: interaction between paroxetine and pravastatin increases blood glucose levels.

scientific article published on 25 May 2011

Developing an Algorithm to Detect Early Childhood Obesity in Two Tertiary Pediatric Medical Centers

scientific article published on 20 July 2016

Development of an Algorithm to Identify Patients with Physician-Documented Insomnia.

scientific article

Development of phenotype algorithms using electronic medical records and incorporating natural language processing

scientific article

Diabetes and the risk of infections with immunomodulator therapy in inflammatory bowel diseases

scientific article published on 13 April 2015

Differences in gene expression profiles of diabetic and nondiabetic patients undergoing cardiopulmonary bypass and cardioplegic arrest

scientific article published in September 2004

Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative ⬇️

scientific article published on August 12, 2011

Discovering functional relationships between RNA expression and chemotherapeutic susceptibility using relevance networks

scientific article

Discovering statistically significant pathways in expression profiling studies

scientific article

Distinctive patterns of microRNA expression in primary muscular disorders

scientific article

Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis

scientific article published on 24 February 2014

Does Collocation Inform the Impact of Collaboration? ⬇️

scientific article published on December 15, 2010

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy ⬇️

scientific article published on April 16, 2013

Driving Innovation in Health Systems through an Apps-Based Information Economy

scientific article

Drug target-gene signatures that predict teratogenicity are enriched for developmentally related genes

scientific article

Dulxanthone A induces cell cycle arrest and apoptosis via up-regulation of p53 through mitochondrial pathway in HepG2 cells

scientific article published on January 2008

Dynamic Bayesian Networks in Modelling Cellular Systems: a Critical Appraisal on Simulated Data

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children

scientific article published on 03 December 2013

Early detection of poor adherers to statins: applying individualized surveillance to pay for performance

scientific article

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Effect of acute aldosterone administration on gene expression profile in the heart

scientific article published on 6 April 2006

Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder

scientific article published on 29 July 2016

Electronic medical records for discovery research in rheumatoid arthritis

scientific article

Enabling phenotypic big data with PheNorm.

scientific article published on 3 November 2017

Enrolling patients into clinical trials faster using RealTime Recuiting

scientific article

Escaping the EHR Trap — The Future of Health IT ⬇️

scientific article published on June 14, 2012

Evidence of spatially bound gene regulation in Mus musculus: decreased gene expression proximal to microRNA genomic location

scholarly article

Evolution strategy applied to global optimization of clusters in gene expression data of DNA microarrays

article

Expression differences by continent of origin point to the immortalization process

scientific article published on 23 July 2009

Expression profiles of the mouse lung identify a molecular signature of time-to-birth

scientific article published on 29 July 2008

Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle

scholarly article

Extracting physician group intelligence from electronic health records to support evidence based medicine

scientific article (publication date: 2013)

Feasibility of studying brain morphology in major depressive disorder with structural magnetic resonance imaging and clinical data from the electronic medical record: A pilot study ⬇️

scientific article published on November 11, 2012

Federalist principles for healthcare data networks

scientific article

Finding the missing link for big biomedical data

scientific article

Fuzzy logic assisted control of inspired oxygen in ventilated newborn infants

scientific article published on January 1994

Gene expression analysis in Fmr1KO mice identifies an immunological signature in brain tissue and mGluR5-related signaling in primary neuronal cultures

scientific article published on 21 December 2015

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle

scientific article

Gene expression profiling of Duchenne muscular dystrophy skeletal muscle

scientific article published on 16 April 2003

Gene homology resources on the World Wide Web.

scientific article

Gene regulation and DNA damage in the ageing human brain

scientific article

GenePING: secure, scalable management of personal genomic data

scientific article published on 26 April 2006

Genes involved in complex adaptive processes tend to have highly conserved upstream regions in mammalian genomes

scientific article

Genetic Misdiagnoses and the Potential for Health Disparities

scientific article

Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records

scientific article

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

scientific article published on 26 April 2018

Genomic Medicine, Health Information Technology, and Patient Care ⬇️

scientific article published on April 10, 2013

Genomic expression pathways associated with brain injury after cardiopulmonary bypass

scientific article published on October 2007

Geography and genography: prediction of continental origin using randomly selected single nucleotide polymorphisms

scientific article published on 10 March 2007

Getting the data in: three year experience with a pediatric electronic medical record system.

scientific article published on January 1994

Glucoweb: a case study of secure, remote biomonitoring and communication.

scientific article

HD CAG-correlated gene expression changes support a simple dominant gain of function ⬇️

scientific article published on May 2, 2011

HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes

scientific article

Health information identification and de-identification toolkit

scientific article (publication date: 1998)

Healthconnect: clinical grade patient-physician communication

scientific article

High throughput single cell bioinformatics

scientific article published on November 2009

High-throughput single cell arrays as a novel tool in biopreservation

scientific article published on 19 March 2009

Higher plasma vitamin D is associated with reduced risk of Clostridium difficile infection in patients with inflammatory bowel diseases

scientific article

How to avoid one thousand opportunities to do harm in genomic medicine.

scientific article

Human disease classification in the postgenomic era: a complex systems approach to human pathobiology

scientific article

Hypothesis-driven data abstraction with trend templates.

scientific article

IRF2BPL Is Associated with Neurological Phenotypes

Identification of Nonresponse to Treatment Using Narrative Data in an Electronic Health Record Inflammatory Bowel Disease Cohort

scientific article

Identification of a transcriptional profile associated with in vitro invasion in non-small cell lung cancer cell lines

scientific article published on 9 July 2004

Identification of autoimmune gene signatures in autism ⬇️

scientific article published on December 13, 2011

Identification of genes expressed with temporal-spatial restriction to developing cerebellar neuron precursors by a functional genomic approach

scientific article

Identifying patient smoking status from medical discharge records

scientific article published on 18 October 2007

Implementation of an electronic medical record system in a pediatric psychopharmacology program

scientific article published on 01 July 2000

Improved de-identification of physician notes through integrative modeling of both public and private medical text

scientific article

Improving case definition of Crohn's disease and ulcerative colitis in electronic medical records using natural language processing: a novel informatics approach

scientific article published on June 2013

Improving the power of genetic association tests with imperfect phenotype derived from electronic medical records

scientific article

Incident user cohort study of risk for gastrointestinal bleed and stroke in individuals with major depressive disorder treated with antidepressants

scientific article published on 30 March 2012

Increased measurement accuracy for sequence-verified microarray probes

scientific article published on 11 August 2004

Increasing the efficiency of trial-patient matching: automated clinical trial eligibility pre-screening for pediatric oncology patients

scientific article published on 14 April 2015

Indivo x: developing a fully substitutable personally controlled health record platform ⬇️

scientific article published on November 13, 2010

Induction of the plasminogen activator system by mechanical stimulation of human bronchial epithelial cells

scientific article published on 22 June 2006

Inferring cell cycle feedback regulation from gene expression data

scientific article

Influences on the performance of hospital clinical event monitoring

scientific article published on January 1991

Instrumenting the health care enterprise for discovery research in the genomic era.

scientific article published on 14 July 2009

Integration of clinical and genetic data in the i2b2 architecture.

scientific article

Integration of heterogeneous expression data sets extends the role of the retinol pathway in diabetes and insulin resistance

scientific article published on 28 September 2009

Integration of the personally controlled electronic medical record into regional inter-regional data exchanges: a national demonstration

scientific article

Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities

scientific article

Inter-species differences of co-expression of neighboring genes in eukaryotic genomes

scientific article

Interacting with eHealth: towards grand challenges for HCI. ⬇️

extended abstract presented at conference

International Changes in COVID-19 Clinical Trajectories Across 315 Hospitals and 6 Countries: Retrospective Cohort Study

scientific article published on 11 October 2021

International Electronic Health Record-Derived COVID-19 Clinical Course Profiles: The 4CE Consortium

scientific article published on 18 April 2020

International comparisons of laboratory values from the 4CE collaborative to predict COVID-19 mortality

scientific article published on 13 June 2022

International electronic health record-derived COVID-19 clinical course profiles: the 4CE consortium

scientific article published on 19 August 2020

Interview with Isaac S. Kohane conducted by Sarah Miller

scientific article published in February 2012

Limbic system white matter microstructure and long-term treatment outcome in major depressive disorder: A diffusion tensor imaging study using legacy data ⬇️

scientific article published on April 30, 2012

Linking gene expression data with patient survival times using partial least squares

scientific article

Linking multiple heterogeneous data sources to practice guidelines

scientific article

Lipid and Lipoprotein Levels and Trend in Rheumatoid Arthritis Compared to the General Population ⬇️

scientific article published on December 1, 2013

Localization and characterization of mouse-human alignments within the human genome. Does evolutionary conservation suggest functional importance?

scientific article published on January 2003

Longitudinal histories as predictors of future diagnoses of domestic abuse: modelling study

scientific article published on 29 September 2009

Lower expression of genes near microRNA in C. elegans germline

scientific article

MAPPER: a search engine for the computational identification of putative transcription factor binding sites in multiple genomes

scientific article

METHODS TO ENHANCE THE REPRODUCIBILITY OF PRECISION MEDICINE.

scientific article published on January 2016

Making sense out of massive data by going beyond differential expression ⬇️

scientific article published on March 23, 2012

Managing incidental findings and research results in genomic research involving biobanks and archived data sets

scientific article

Mapping tool for maintaining vocabulary relationships.

scientific article published on January 2006

Marco Ramoni: an appreciation of academic achievement

scientific article

Mechanical stretch is a highly selective regulator of gene expression in human bladder smooth muscle cells

scientific article

Medicine's uncomfortable relationship with math: calculating positive predictive value

scientific article published on June 2014

Medicine. Reestablishing the researcher-patient compact

scientific article

Methods to Develop an Electronic Medical Record Phenotype Algorithm to Compare the Risk of Coronary Artery Disease across 3 Chronic Disease Cohorts

scientific article published on 24 August 2015

Minimal haplotype tagging

scientific article published on 4 August 2003

Mode of childbirth and long-term outcomes in women with inflammatory bowel diseases

scientific article

Modeling disease severity in multiple sclerosis using electronic health records

scientific article

Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression

scientific article

Molecular profiles of inflammatory myopathies.

scientific article

Monitor-driven data visualization: SmartDisplay

scientific article

Mortality and extraintestinal cancers in patients with primary sclerosing cholangitis and inflammatory bowel disease

scientific article

Multidimensional results reporting to participants in genomic studies: getting it right

scientific article published in June 2010

My sister's keeper?: genomic research and the identifiability of siblings

scientific article

Network-based analysis of affected biological processes in type 2 diabetes models

scientific article

Newborn screening program practices in the United States: notification, research, and consent

scientific article

Next-generation sequencing in the clinic: are we ready?

scientific article

No small matter: qualitatively distinct challenges of pediatric genomic studies ⬇️

scientific article published on September 30, 2011

Normalization of plasma 25-hydroxy vitamin D is associated with reduced risk of surgery in Crohn's disease

scientific article published on August 2013

Opportunities for genomic clinical decision support interventions

scientific article published on 19 September 2013

Optimal deconvolution of transcriptional profiling data using quadratic programming with application to complex clinical blood samples

scientific article (publication date: 2011)

PEFIOS: an expert closed-loop oxygenation algorithm.

scientific article published in January 1995

PGAGENE: integrating quantitative gene-specific results from the NHLBI Programs for Genomic Applications ⬇️

scientific article published on April 12, 2003

Parents as partners in obtaining the medication history

scientific article

Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome

scientific article

Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.

scientific article published on 28 April 2013

Perturbation of gene expression of the chromatin remodeling pathway in premature newborns at risk for bronchopulmonary dysplasia

scientific article

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis

scientific article

Population-level evidence for an autoimmune etiology of epilepsy

scientific article

Postsurgical prescriptions for opioid naive patients and association with overdose and misuse: retrospective cohort study

scientific article published on 17 January 2018

Potential impact of a computerized system to report late-arriving laboratory results in the emergency department.

scientific article published on October 2000

Practical considerations in genomic decision support: The eMERGE experience

scientific article

Predicting survival within the lung cancer histopathological hierarchy using a multi-scale genomic model of development

scientific article published in July 2006

Prediction of chronic obstructive pulmonary disease (COPD) in asthma patients using electronic medical records

scientific article published on 04 March 2009

Prediction of mortality in an Indian intensive care unit. Comparison between APACHE II and artificial neural networks

scientific article published on 15 January 2004

Predictive Modeling of Physician-Patient Dynamics That Influence Sleep Medication Prescriptions and Clinical Decision-Making

scientific article published on 09 February 2017

Predictors of severe outcomes associated with Clostridium difficile infection in patients with inflammatory bowel disease ⬇️

scientific article published on February 23, 2012

Prenatal antidepressant exposure is associated with risk for attention-deficit hyperactivity disorder but not autism spectrum disorder in a large health system.

scientific article published on 26 August 2014

Prevalence of Inflammatory Bowel Disease Among Patients with Autism Spectrum Disorders

scientific article published on 25 July 2015

Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline

scientific article

Psychiatric co-morbidity is associated with increased risk of surgery in Crohn's disease

scientific article published on 7 January 2013

Public standards and patients' control: how to keep electronic medical records accessible but private

scientific article

QT interval and antidepressant use: a cross sectional study of electronic health records ⬇️

scientific article published on January 29, 2013

Quantifying the relationship between co-expression, co-regulation and gene function

scientific article

Quantifying the white blood cell transcriptome as an accessible window to the multiorgan transcriptome

scientific article

REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY.

scientific article published on January 2016

Rapid identification of myocardial infarction risk associated with diabetes medications using electronic medical records

scientific article

Rare copy number variation in treatment-resistant major depressive disorder

scientific article

Rcupcake: an R package for querying and analyzing biomedical data through the BD2K PIC-SURE RESTful API.

scientific article published on 18 December 2017

Redefinition of Affymetrix probe sets by sequence overlap with cDNA microarray probes reduces cross-platform inconsistencies in cancer-associated gene expression measurements

scientific article

Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods

scientific article

Regulation of myogenic progenitor proliferation in human fetal skeletal muscle by BMP4 and its antagonist Gremlin

scientific article

Reproducibility of gene expression across generations of Affymetrix microarrays

scientific article

Reproducible Machine Learning Methods for Lung Cancer Detection Using Computed Tomography Images: Algorithm Development and Validation

scientific article published on 05 August 2020

Reverse geocoding: concerns about patient confidentiality in the display of geospatial health data.

scientific article

Roger et al. respond to "future of population studies"

scientific article

SHRINE: enabling nationally scalable multi-site disease studies

scientific article

SMART on FHIR Genomics: facilitating standardized clinico-genomic apps

scientific article published on 21 July 2015

SMART on FHIR: a standards-based, interoperable apps platform for electronic health records

scientific article

SMART precision cancer medicine: a FHIR-based app to provide genomic information at the point of care

scientific article

SNPper: retrieval and analysis of human SNPs

scientific article published in December 2002

START: an automated tool for serial analysis of chromatin occupancy data

scientific article

Scalable Collaborative Infrastructure for a Learning Healthcare System (SCILHS): architecture

scientific article

Scalable decision support at the point of care: a substitutable electronic health record app for monitoring medication adherence

scientific article

Scaling a data retrieval and mining application to the enterprise-wide level

scientific article published in January 1999

Secondary use of health information: are we asking the right question?

scientific article published in October 2013

Sentiment Measured in Hospital Discharge Notes Is Associated with Readmission and Mortality Risk: An Electronic Health Record Study

scientific article published on 24 August 2015

Sequence-matched probes produce increased cross-platform consistency and more reproducible biological results in microarray-based gene expression measurements

scientific article

Serum inflammatory markers and risk of colorectal cancer in patients with inflammatory bowel diseases

scientific article

Serving the enterprise and beyond with informatics for integrating biology and the bedside (i2b2).

scientific article

Sharing electronic medical records across multiple heterogeneous and competing institutions

scientific article (publication date: 1996)

Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers.

scientific article published on 11 November 2004

Similar risk of depression and anxiety following surgery or hospitalization for Crohn's disease and ulcerative colitis

scientific article published on 22 January 2013

Social equity and access to the World Wide Web and E-mail: implications for design and implementation of medical applications

scientific article

Statin Use Is Associated With Reduced Risk of Colorectal Cancer in Patients With Inflammatory Bowel Diseases

scientific article published on 20 February 2016

Statistical Challenges in Functional Genomics

Strategic transformation of population studies: recommendations of the working group on epidemiology and population sciences from the National Heart, Lung, and Blood Advisory Council and Board of External Experts

scientific article

Strategies for maintaining patient privacy in i2b2 ⬇️

scientific article published on October 7, 2011

Stratification of risk for hospital admissions for injury related to fall: cohort study

scientific article

Structural, genetic, and functional signatures of disordered neuro-immunological development in autism spectrum disorder

scientific article

Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers

scientific article published on 06 September 2016

Summarizing polygenic risks for complex diseases in a clinical whole-genome report

scientific article

Surrogate-assisted feature extraction for high-throughput phenotyping

scientific article

Systematic correlation of environmental exposure and physiological and self-reported behaviour factors with leukocyte telomere length

scientific article

Systematic survey reveals general applicability of "guilt-by-association" within gene coexpression networks

scientific article

TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits

scientific article

Taxonomizing, sizing, and overcoming the incidentalome ⬇️

scientific article published on 09 February 2012

Technical desiderata for the integration of genomic data into Electronic Health Records ⬇️

scientific article published on December 27, 2011

Temporal dynamics of the developing lung transcriptome in three common inbred strains of laboratory mice reveals multiple stages of postnatal alveolar development

scientific article

Temporal expressiveness in querying a time-stamp--based clinical database

scientific article

Ten thousand views of bioinformatics: a bibliome perspective.

scientific article

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future ⬇️

scientific article (publication date: October 2013)

The MAPPER database: a multi-genome catalog of putative transcription factor binding sites

scientific article

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

scientific article

The PING personally controlled electronic medical record system: technical architecture

scientific article

The SMART Platform: early experience enabling substitutable applications for electronic health records ⬇️

scientific article published on March 17, 2012

The Shared Health Research Information Network (SHRINE): a prototype federated query tool for clinical data repositories

scientific article

The asthma kiosk: a patient-centered technology for collaborative decision support in the emergency department

scientific article published on 06 August 2004

The co-morbidity burden of children and young adults with autism spectrum disorders

scientific article

The contributions of biomedical informatics to the fight against bioterrorism

scientific article

The incidentalome: a threat to genomic medicine

scientific article

The new peer review

scientific article

The personal internetworked notary and guardian.

scientific article published on June 2001

The phenotypical implications of immune dysregulation in fragile X syndrome

scientific article published on 17 January 2020

The tell-tale heart: population-based surveillance reveals an association of rofecoxib and celecoxib with myocardial infarction

scientific article

The twin questions of personalized medicine: who are you and whom do you most resemble?

scientific article (publication date: 20 January 2009)

The value of parental report for diagnosis and management of dehydration in the emergency department

scientific article published on February 2003

Thromboprophylaxis is associated with reduced post-hospitalization venous thromboembolic events in patients with inflammatory bowel diseases

scientific article

Time for a Patient-Driven Health Information Economy?

scientific article

Tissue and process specific microRNA-mRNA co-expression in mammalian development and malignancy

scientific article

Topical iodine and neonatal hypothyroidism

scientific article published on 01 December 1995

Toward More Transparent and Reproducible Omics Studies Through a Common Metadata Checklist and Data Publications

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Training the next generation of informaticians: the impact of "BISTI" and bioinformatics--a report from the American College of Medical Informatics

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Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes

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Transcriptomic analysis of human lung development

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Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism

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Unsupervised knowledge discovery in medical databases using relevance networks.

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Using HL7 and the World Wide Web for unifying patient data from remote databases

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Using a pen-based computer to collect health-related quality of life and utilities information.

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Using electronic health records to drive discovery in disease genomics ⬇️

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Using electronic medical records to enable large-scale studies in psychiatry: treatment resistant depression as a model

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Utilization, Cost, and Outcome of Branded vs Compounded 17-Alpha Hydroxyprogesterone Caproate in Prevention of Preterm Birth

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Validation of electronic health record phenotyping of bipolar disorder cases and controls

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Visualization and evaluation of clusters for exploratory analysis of gene expression data

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WHAM!: a forms constructor for medical record access via the World Wide Web

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What are the benefits and risks of fitting patients with radiofrequency identification devices

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What's a Genome Worth?

Wireless technology infrastructures for authentication of patients: PKI that rings

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iPSC-derived neurons as a higher-throughput readout for autism: promises and pitfalls

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iTools: a framework for classification, categorization and integration of computational biology resources

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