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Author Details

John Penn
2013
13
11
PMIDPaper TitleJournal TitlePublished Year
35149777UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab.Pharmacogenomics J2022
33087929Exome sequencing and characterization of 49,960 individuals in the UK Biobank.Nature2020
29727688Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.Am J Hum Genet2018
29899519Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.Nat Commun2018
29562163A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.N Engl J Med2018
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
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
28008009Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.Science2016
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
24334906Rad GTPase deletion increases L-type calcium channel current leading to increased cardiac contraction.Journal of the American Heart Association2013
24215330Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.BMC Medical Genetics2013
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University of Florida, College of Medicine-Jacksonville
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Wellcome Sanger Institute
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Perelman School of Medicine, University of Pennsylvania
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