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Joseph B. Leader
Geisinger Health System
49Publications
9H-index
641Citations
Publications 49
Newest
Published on Apr 11, 2019
Juan M. Banda11
Estimated H-index: 11
(Stanford University),
Ashish Sarraju3
Estimated H-index: 3
(Cardiovascular Institute of the South)
+ 15 AuthorsKenneth Jung17
Estimated H-index: 17
(Stanford University)
Familial hypercholesterolemia (FH) is an underdiagnosed dominant genetic condition affecting approximately 0.4% of the population and has up to a 20-fold increased risk of coronary artery disease if untreated. Simple screening strategies have false positive rates greater than 95%. As part of the FH Foundation′s FIND FH initiative, we developed a classifier to identify potential FH patients using electronic health record (EHR) data at Stanford Health Care. We trained a random forest classifier us...
Published in European Heart Journal 23.24
Gregory J. Wehner6
Estimated H-index: 6
(UK: University of Kentucky),
Linyuan Jing8
Estimated H-index: 8
+ -3 AuthorsZina Ayar1
Estimated H-index: 1
Published on Jun 20, 2019in Circulation 23.05
Christopher M. Haggerty9
Estimated H-index: 9
,
Scott M. Damrauer12
Estimated H-index: 12
(UPenn: University of Pennsylvania)
+ 36 AuthorsMelissa A. Kelly
Background: Truncating variants in the Titin gene (TTNtvs) are common in individuals with idiopathic dilated cardiomyopathy (DCM). However, a comprehensive genomics-first evaluation of the impact o...
Published on Jun 1, 2019in Diabetes 7.20
Uyenlinh L. Mirshahi9
Estimated H-index: 9
,
Jessica M. Goehringer + 8 AuthorsToni I. Pollin40
Estimated H-index: 40
Published on May 1, 2019
Gina M. Peloso41
Estimated H-index: 41
(BU: Boston University),
Akihiro Nomura13
Estimated H-index: 13
(Kanazawa University)
+ 23 AuthorsJames G. Wilson52
Estimated H-index: 52
(UMMC: University of Mississippi Medical Center)
Background Familial hypobetalipoproteinemia is a genetic disorder caused by rare protein-truncating variants (PTV) in the gene encoding APOB (apolipoprotein B), the major protein component of LDL (...
Published on Apr 2, 2019
Gina M. Peloso41
Estimated H-index: 41
,
Akihiro Nomura13
Estimated H-index: 13
+ 23 AuthorsHeribert Schunkert100
Estimated H-index: 100
GMP is supported by the National Heart, Lung, and Blood Institute of the National Institutes of Health under Award Number K01HL125751. AN was supported by the Yoshida Scholarship Foundation. AK is supported by an institutional grant from the Broad Institute of MIT and Harvard (BroadIgnite), a K08 from the National Human Genome Research Institute (K08HG010155), and a Junior Faculty Award from the National Lipid Association. SK is supported by a research scholar award from the Massachusetts Genera...
Published on Mar 9, 2019in bioRxiv
Cristopher Van Hout3
Estimated H-index: 3
,
Ioanna Tachmazidou1
Estimated H-index: 1
(GSK: GlaxoSmithKline)
+ 46 AuthorsShareef Khalid1
Estimated H-index: 1
SUMMARY The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world. Here we describe the first tranche of large-scale exome sequence data for 49,960 study participants, revealing approximately 4 million coding variants (of which ~98.4% have frequency 10-fold increase compared to imputed sequence for the same participants. Nearly all genes (>97%) had ≥1 predicted loss of function carrier,...
Published on Jan 1, 2019in arXiv: Quantitative Methods
Sushravya Raghunath1
Estimated H-index: 1
,
Alvaro E. Ulloa Cerna + 12 AuthorsAalpen A. Patel2
Estimated H-index: 2
The electrocardiogram (ECG) is a widely-used medical test, typically consisting of 12 voltage versus time traces collected from surface recordings over the heart. Here we hypothesize that a deep neural network can predict an important future clinical event (one-year all-cause mortality) from ECG voltage-time traces. We show good performance for predicting one-year mortality with an average AUC of 0.85 from a model cross-validated on 1,775,926 12-lead resting ECGs, that were collected over a 34-y...
Published on Dec 1, 2018in Nature Communications 11.88
Viktoria Gusarova12
Estimated H-index: 12
(Regeneron),
Colm O'Dushlaine1
Estimated H-index: 1
(Regeneron)
+ 78 AuthorsCristopher V. Van Hout5
Estimated H-index: 5
(Regeneron)
Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeostasis and decrease risk of type 2 diabetes (T2D). We investigate protein-altering variants in ANGPTL4 among 58,124 participants in the DiscovEHR human genetics study, with follow-up studies in 82,766 T2D cases and 498,761 controls. Carriers of p.E40K, a variant...
Published on May 15, 2019in arXiv: Learning
Alvaro Ulloa4
Estimated H-index: 4
,
Linyuan Jing8
Estimated H-index: 8
+ 13 AuthorsJoseph B. Leader9
Estimated H-index: 9
Predicting future clinical events helps physicians guide appropriate intervention. Machine learning has tremendous promise to assist physicians with predictions based on the discovery of complex patterns from historical data, such as large, longitudinal electronic health records (EHR). This study is a first attempt to demonstrate such capabilities using raw echocardiographic videos of the heart. We show that a large dataset of 723,754 clinically-acquired echocardiographic videos (~45 million ima...
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