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Author Details
Full Name
John Penn
Affiliation
ORCID
Career Start Year
2013
Papers
13
H Index
11
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
35149777
UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab.
Pharmacogenomics J
2022
33087929
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
2020
29727688
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet
2018
29899519
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.
Nat Commun
2018
29562163
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
N Engl J Med
2018
27897004
IDENTIFYING 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 Biocomput
2017
28538136
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.
N Engl J Med
2017
28471438
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
Genet Med
2017
28008009
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Science
2016
26933753
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
N Engl J Med
2016
26776183
INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.
Pac Symp Biocomput
2016
24334906
Rad GTPase deletion increases L-type calcium channel current leading to increased cardiac contraction.
Journal of the American Heart Association
2013
24215330
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
BMC Medical Genetics
2013
1 - 13 of 13
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