Publications by authors named "Joseph B Leader"

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Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Frederick E Dewey, Michael F Murray, John D Overton, Lukas Habegger, Joseph B Leader, Samantha N Fetterolf, Colm O'Dushlaine, Cristopher V Van Hout, Jeffrey Staples, Claudia Gonzaga-Jauregui

December 2016

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Genetic risk factors for COVID-19 and influenza are largely distinct.
Jack A Kosmicki, Anthony Marcketta, Deepika Sharma, Silvio Alessandro Di Gioia, Samantha Batista, Joseph B Leader

Nat Genet· August 2024

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An 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.
Sushravya Raghunath, John M Pfeifer, Christopher R Kelsey, Arun Nemani, Jeffrey A Ruhl, Joseph B Leader

J Electrocardiol· January 2023

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rECHOmmend: An ECG-Based Machine Learning Approach for Identifying Patients at Increased Risk of Undiagnosed Structural Heart Disease Detectable by Echocardiography.
Alvaro E Ulloa-Cerna, Linyuan Jing, John M Pfeifer, Sushravya Raghunath, Jeffrey A Ruhl, Joseph B Leader

Circulation· July 2022

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Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.
Julie E Horowitz, Jack A Kosmicki, Amy Damask, Deepika Sharma, Genevieve H L Roberts, Joseph B Leader

Nat Genet· April 2022

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Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.
Jack A Kosmicki, Julie E Horowitz, Nilanjana Banerjee, Rouel Lanche, Anthony Marcketta, Joseph B Leader

Am J Hum Genet· July 2021

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Deep-learning-assisted analysis of echocardiographic videos improves predictions of all-cause mortality.
Alvaro E Ulloa Cerna, Linyuan Jing, Christopher W Good, David P vanMaanen, Sushravya Raghunath, Joseph B Leader

Nat Biomed Eng· June 2021

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Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
Melissa A Kelly, Joseph B Leader, Karen E Wain, Dale Bodian, Matthew T Oetjens

Am J Med Genet C Semin Med Genet· March 2021

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Deep Neural Networks Can Predict New-Onset Atrial Fibrillation From the 12-Lead ECG and Help Identify Those at Risk of Atrial Fibrillation-Related Stroke.
Sushravya Raghunath, John M Pfeifer, Alvaro E Ulloa-Cerna, Arun Nemani, Tanner Carbonati, Joseph B Leader

Circulation· March 2021

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Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.
Matthew T Oetjens, Jonathan Z Luo, Alexander Chang, Joseph B Leader, Dustin N Hartzel

PLoS One· November 2020

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Cristopher V Van Hout, Ioanna Tachmazidou, Joshua D Backman, Joshua D Hoffman, Daren Liu, Joseph B Leader

Nature· October 2020

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A Machine Learning Approach to Management of Heart Failure Populations.
Linyuan Jing, Alvaro E Ulloa Cerna, Christopher W Good, Nathan M Sauers, Gargi Schneider, Joseph B Leader

JACC Heart Fail· July 2020

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Prediction of mortality from 12-lead electrocardiogram voltage data using a deep neural network.
Sushravya Raghunath, Alvaro E Ulloa Cerna, Linyuan Jing, David P vanMaanen, Joshua Stough, Joseph B Leader

Nat Med· June 2020

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Routinely reported ejection fraction and mortality in clinical practice: where does the nadir of risk lie?
Gregory J Wehner, Linyuan Jing, Christopher M Haggerty, Jonathan D Suever, Joseph B Leader

Eur Heart J· March 2020

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Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.
Claudia Gonzaga-Jauregui, Wenzhen Ge, Jeffrey Staples, Cristopher Van Hout, Ashish Yadav, Joseph B Leader

Diabetes· February 2020

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Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.
Eric D Carruth, Wilson Young, Dominik Beer, Cynthia A James, Hugh Calkins, Joseph B Leader

Circ Genom Precis Med· November 2019

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Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.
Christopher M Haggerty, Scott M Damrauer, Michael G Levin, David Birtwell, David J Carey, Joseph B Leader

Circulation· July 2019

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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Jason Flannick, Josep M Mercader, Christian Fuchsberger, Miriam S Udler, Anubha Mahajan, Joseph B Leader

Nature· June 2019

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Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.
Gina M Peloso, Akihiro Nomura, Amit V Khera, Mark Chaffin, Hong-Hee Won, Joseph B Leader

Circ Genom Precis Med· May 2019

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Finding missed cases of familial hypercholesterolemia in health systems using machine learning.
Juan M Banda, Ashish Sarraju, Fahim Abbasi, Justin Parizo, Mitchel Pariani, Joseph B Leader

NPJ Digit Med· April 2019

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Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Kandamurugu Manickam, Adam H Buchanan, Marci L B Schwartz, Miranda L G Hallquist, Janet L Williams, Joseph B Leader

JAMA Netw Open· September 2018

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Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.
Viktoria Gusarova, Colm O'Dushlaine, Tanya M Teslovich, Peter N Benotti, Tooraj Mirshahi, Joseph B Leader

Nat Commun· June 2018

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Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Jeffrey Staples, Evan K Maxwell, Nehal Gosalia, Claudia Gonzaga-Jauregui, Christopher Snyder, Joseph B Leader

Am J Hum Genet· May 2018

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Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience.
Marc S Williams, Adam H Buchanan, F Daniel Davis, W Andrew Faucett, Miranda L G Hallquist, Joseph B Leader

Health Aff (Millwood)· May 2018

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First Trimester Plasma Glucose Values in Women without Diabetes are Associated with Risk for Congenital Heart Disease in Offspring.
Emmi I T Helle, Preston Biegley, Joshua W Knowles, Joseph B Leader, Sarah Pendergrass

J Pediatr· April 2018

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Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.
Frederick E Dewey, Viktoria Gusarova, Richard L Dunbar, Colm O'Dushlaine, Claudia Schurmann, Joseph B Leader

N Engl J Med· July 2017

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