High-throughput phenotyping with electronic medical record data using a common semi-supervised approach (PheCAP)

Identifying lupus patients in electronic health records: Development and validation of machine learning algorithms and application of rule-based algorithms

(2019) April Jorge et al.   SEMINARS IN ARTHRITIS AND RHEUMATISM

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes

(2018) Jung Hoon Son et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Informatics and machine learning to define the phenotype

(2018) Anna Okula Basile et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

The Association Between Arthralgia and Vedolizumab Using Natural Language Processing

(2018) Tianrun Cai et al.   INFLAMMATORY BOWEL DISEASES

An atlas of genetic associations in UK Biobank

(2018) Oriol Canela-Xandri et al.   NATURE GENETICS

A Computable Phenotype Improves Cohort Ascertainment in a Pediatric Pulmonary Hypertension Registry

(2017) Alon Geva et al.   JOURNAL OF PEDIATRICS

Enabling phenotypic big data with PheNorm

(2017) Sheng Yu et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Phenome-Wide Association Study of Rheumatoid Arthritis Subgroups Identifies Association Between Seronegative Disease and Fibromyalgia

(2017) Jayanth Doss et al.   Arthritis & Rheumatology

Million Veteran Program: A mega-biobank to study genetic influences on health and disease

(2016) John Michael Gaziano et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability

(2016) Jacqueline C Kirby et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Learning statistical models of phenotypes using noisy labeled training data

(2016) Vibhu Agarwal et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Electronic medical record phenotyping using the anchor and learn framework

(2016) Yoni Halpern et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Large-scale identification of patients with cerebral aneurysms using natural language processing

(2016) Victor M. Castro et al.   NEUROLOGY

Validation of Electronic Health Record Phenotyping of Bipolar Disorder Cases and Controls

(2015) Victor M. Castro et al.   AMERICAN JOURNAL OF PSYCHIATRY

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

(2015) Ashwin N. Ananthakrishnan et al.   INFLAMMATORY BOWEL DISEASES

Toward high-throughput phenotyping: unbiased automated feature extraction and selection from knowledge sources

(2015) Sheng Yu et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Identification of subjects with polycystic ovary syndrome using electronic health records

(2015) Victor Castro et al.   Reproductive Biology and Endocrinology

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

(2015) K. P. Liao et al.   BMJ-British Medical Journal

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

(2015) K. P. Liao et al.   BMJ-British Medical Journal

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

(2014) Jennifer A. Sinnott et al.   HUMAN GENETICS

Design patterns for the development of electronic health record-driven phenotype extraction algorithms

(2014) Luke V. Rasmussen et al.   JOURNAL OF BIOMEDICAL INFORMATICS

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

(2013) Katherine P Liao et al.   ANNALS OF THE RHEUMATIC DISEASES

Association Between Reduced Plasma 25-Hydroxy Vitamin D and Increased Risk of Cancer in Patients With Inflammatory Bowel Diseases

(2013) Ashwin N. Ananthakrishnan et al.   Clinical Gastroenterology and Hepatology

Improving Case Definition of Crohnʼs Disease and Ulcerative Colitis in Electronic Medical Records Using Natural Language Processing

(2013) Ashwin N. Ananthakrishnan et al.   INFLAMMATORY BOWEL DISEASES

Genetics of rheumatoid arthritis contributes to biology and drug discovery

(2013) Yukinori Okada et al.   NATURE

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

(2013) Joshua C Denny et al.   NATURE BIOTECHNOLOGY

Modeling Disease Severity in Multiple Sclerosis Using Electronic Health Records

(2013) Zongqi Xia et al.   PLoS One

Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12

(2012) Fina A.S. Kurreeman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Katherine P. Liao et al.   ARTHRITIS AND RHEUMATISM

Portability of an algorithm to identify rheumatoid arthritis in electronic health records

(2012) Robert J Carroll et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Genetic Basis of Autoantibody Positive and Negative Rheumatoid Arthritis Risk in a Multi-ethnic Cohort Derived from Electronic Health Records

(2011) Fina Kurreeman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) R. H. Perlis et al.   PSYCHOLOGICAL MEDICINE

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

(2010) S. N. Murphy et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Mayo clinical Text Analysis and Knowledge Extraction System (cTAKES): architecture, component evaluation and applications

(2010) Guergana K Savova et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Electronic medical records for discovery research in rheumatoid arthritis

(2010) Katherine P. Liao et al.   ARTHRITIS CARE & RESEARCH

Rapid Identification of Myocardial Infarction Risk Associated With Diabetes Medications Using Electronic Medical Records

(2009) J. S. Brownstein et al.   DIABETES CARE