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Author Details

Joseph B Leader
2013
41
27
PMIDPaper TitleJournal TitlePublished Year
36436476An ECG-based machine learning model for predicting new-onset atrial fibrillation is superior to age and clinical features in identifying patients at high stroke risk.J Electrocardiol2023
35533093rECHOmmend: An ECG-Based Machine Learning Approach for Identifying Patients at Increased Risk of Undiagnosed Structural Heart Disease Detectable by Echocardiography.Circulation2022
33655273A catalog of associations between rare coding variants and COVID-19 outcomes.medRxiv2021
33588584Deep Neural Networks Can Predict New-Onset Atrial Fibrillation From the 12-Lead ECG and Help Identify Those at Risk of Atrial Fibrillation-Related Stroke.Circulation2021
34115965Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.Am J Hum Genet2021
33576083Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.Am J Med Genet C Semin Med Genet2021
33619501Genome-wide analysis in 756,646 individuals provides first genetic evidence that <i>ACE2</i> expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease.medRxiv2021
33558735Deep-learning-assisted analysis of echocardiographic videos improves predictions of all-cause mortality.Nat Biomed Eng2021
31386109Routinely reported ejection fraction and mortality in clinical practice: where does the nadir of risk lie?Eur Heart J2020
31836692Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.Diabetes2020
32393799Prediction of mortality from 12-lead electrocardiogram voltage data using a deep neural network.Nat Med2020
32387064A Machine Learning Approach to Management of Heart Failure Populations.JACC Heart Fail2020
33087929Exome sequencing and characterization of 49,960 individuals in the UK Biobank.Nature2020
33180868Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.PLoS One2020
31304370Finding missed cases of familial hypercholesterolemia in health systems using machine learning.NPJ Digit Med2019
31638835Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.Circ Genom Precis Med2019
33323221Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data.Lancet Digit Health2019
31216868Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.Circulation2019
31118516Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.Nature2019
29727688Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.Am J Hum Genet2018
30353015Author Correction: Rare variants in drug target genes contributing to complex diseases, phenome-wide.Sci Rep2018
29899519Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.Nat Commun2018
30646163Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.JAMA Netw Open2018
29606303PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.Am J Hum Genet2018
29254757First Trimester Plasma Glucose Values in Women without Diabetes are Associated with Risk for Congenital Heart Disease in Offspring.J Pediatr2018
29733722Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience.Health Aff (Millwood)2018
29545597Rare variants in drug target genes contributing to complex diseases, phenome-wide.Sci Rep2018
27896989OPENING THE DOOR TO THE LARGE SCALE USE OF CLINICAL LAB MEASURES FOR ASSOCIATION TESTING: EXPLORING DIFFERENT METHODS FOR DEFINING PHENOTYPES.Pac Symp Biocomput2017
28506971Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.Circ Res2017
28538136Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.N Engl J Med2017
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
28267856Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.JAMA2017
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
27578142Corrigendum to Baseline Undertreatment of Adults with Newly Diagnosed Familial Hypercholesterolemia by Genomic Sequencing [J Clin Lipidol 10 (2016) 692-693].J Clin Lipidol2016
26933753Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.N Engl J Med2016
26776183INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.Pac Symp Biocomput2016
28008010Genetic identification of familial hypercholesterolemia within a single U.S. health care system.Science2016
28008009Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.Science2016
26958218Contrasting Association Results between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes.AMIA Annu Symp Proc2015
23461428Adherence to varenicline and associated smoking cessation in a community-based patient setting.J Manag Care Pharm2013
23924393Electronic health record-based assessment of oral corticosteroid use in a population of primary care patients with asthma: an observational study.Allergy Asthma Clin Immunol2013
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