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Author Details

Sarah A Pendergrass
Biomedical and Translational Informatics Institute
2003
101
35
PMIDPaper TitleJournal TitlePublished Year
35226188Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid.Hum Genet2022
35697829Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.Commun Biol2022
32964493Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network.Genet Epidemiol2021
33627673Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.Nat Commun2021
33850243Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies.NPJ Digit Med2021
34086673Novel EDGE encoding method enhances ability to identify genetic interactions.PLoS Genet2021
33137338Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.Kidney Int2021
33420026Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics.Nat Commun2021
32289280A genome-wide association study of polycystic ovary syndrome identified from electronic health records.Am J Obstet Gynecol2020
32711518Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records.BMC Med Genomics2020
32308851Interpretation of machine learning predictions for patient outcomes in electronic health records.AMIA Annu Symp Proc2020
30298529The eMERGE genotype set of 83,717 subjects imputed to ~40â¿¿million variants genome wide and association with the herpes zoster medical record phenotype.Genet Epidemiol2019
31891604A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans.PLoS One2019
31455332Dissecting genetic factors affecting phenylephrine infusion rates during anesthesia: a genome-wide association study employing EHR data.BMC Med2019
31249589A <i>Trans</i>-Ethnic Genome-Wide Association Study of Uterine Fibroids.Front Genet2019
30864329Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network.Pac Symp Biocomput2019
30774981A phenome-wide association study to discover pleiotropic effects of <i>PCSK9</i>, <i>APOB</i>, and <i>LDLR</i>.NPJ Genom Med2019
31152163A catalog of genetic loci associated with kidney function from analyses of a million individuals.Nat Genet2019
30459343Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling.Genes Immun2019
30598166Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals.Am J Hum Genet2019
30516347Using Electronic Health Records To Generate Phenotypes For Research.Curr Protoc Hum Genet2019
30669967Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico.BMC Bioinformatics2019
30617273The importance of buprenorphine research in the opioid crisis.Mol Psychiatry2019
29254757First Trimester Plasma Glucose Values in Women without Diabetes are Associated with Risk for Congenital Heart Disease in Offspring.J Pediatr2018
29856256A Phenome-Wide Association Study Uncovers a Role for Autoimmunity in the Development of Chronic Obstructive Pulmonary Disease.Am J Respir Cell Mol Biol2018
30353015Author Correction: Rare variants in drug target genes contributing to complex diseases, phenome-wide.Sci Rep2018
30363675Using Adipose Measures from Health Care Provider-Based Imaging Data for Discovery.J Obes2018
30354341Healthcare Utilization and Patients' Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia.Circ Genom Precis Med2018
29618318A simulation study investigating power estimates in phenome-wide association studies.BMC Bioinformatics2018
29475824Characterizing and Managing Missing Structured Data in Electronic Health Records: Data Analysis.JMIR Med Inform2018
29606303PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.Am J Hum Genet2018
29545597Rare variants in drug target genes contributing to complex diseases, phenome-wide.Sci Rep2018
27896973PATTERNS IN BIOMEDICAL DATA-HOW DO WE FIND THEM?Pac Symp Biocomput2017
28099408Multiphenotype association study of patients randomized to initiate antiretroviral regimens in AIDS Clinical Trials Group protocol A5202.Pharmacogenet Genomics2017
28448694The joint effect of air pollution exposure and copy number variation on risk for autism.Autism Res2017
28471438Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.Genet Med2017
29079728PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies.Nat Commun2017
27899403Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.Circ Res2017
27897004IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR.Pac Symp Biocomput2017
27896989OPENING THE DOOR TO THE LARGE SCALE USE OF CLINICAL LAB MEASURES FOR ASSOCIATION TESTING: EXPLORING DIFFERENT METHODS FOR DEFINING PHENOTYPES.Pac Symp Biocomput2017
26223525The detection and characterization of pleiotropy: discovery, progress, and promise.Brief Bioinform2016
28008009Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.Science2016
27508393Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases.PLoS One2016
27535653eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants.BMC Med Genomics2016
27249515Evidence for extensive pleiotropy among pharmacogenes.Pharmacogenomics2016
27153576Pathway analysis by randomization incorporating structure-PARIS: an update.Bioinformatics2016
26776183INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.Pac Symp Biocomput2016
26776173PHENOME-WIDE INTERACTION STUDY (PheWIS) IN AIDS CLINICAL TRIALS GROUP DATA (ACTG).Pac Symp Biocomput2016
25582081Methods of integrating data to uncover genotype-phenotype interactions.Nat Rev Genet2015
26566401Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry.BioData Min2015
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Collaborators

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Corporal Michael J Crescenz VA Medical Center Philadelphia
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University of Minnesota Medical School, 1035 University Drive duluth
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Geisinger Medical Center
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Kaiser Permanente Washington Health Research Institute
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Vanderbilt University Medical Center
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University of Southern California
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Geisel School of Medicine at Dartmouth
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The Center for Applied Genomics, Children's Hospital of Philadelphia
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Biomedical Research Institute, Stellenbosch University.
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University of Pennsylvania
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