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Publications

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Number of Publications: 102

Title
Year
Publication
Recruitment strategies and lessons learned from a large genetic study of African Americans
2022
PLOS global public health
Derivation and Validation of Genome-Wide Polygenic Score for Ischemic Heart Failure
2021
Journal of the American Heart Association
A genome-first approach to mortality and metabolic phenotypes in MTARC1 p.Ala165Thr (rs2642438) heterozygotes and homozygotes
2021
Med (New York, N.Y.)
Targeting the coronavirus nucleocapsid protein through GSK-3 inhibition
2021
Proceedings of the National Academy of Sciences of the United States of America
The power of genetic diversity in genome-wide association studies of lipids
2021
Nature
Mapping the human genetic architecture of COVID-19
2021
Nature
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults
2021
Human Genetics
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
2021
American Journal of Human Genetics
SARS-CoV-2 Seropositivity and Seroconversion in Patients Undergoing Active Cancer-Directed Therapy
2021
JCO oncology practice
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry
2021
Scientific Reports
Genetically Downregulated Interleukin-6 Signaling Is Associated With a Favorable Cardiometabolic Profile: A Phenome-Wide Association Study
2021
Circulation
Seasonal human coronavirus antibodies are boosted upon SARS-CoV-2 infection but not associated with protection
2021
Cell
Rates of COVID-19-Related Outcomes in Cancer Compared With Noncancer Patients
2021
JNCI cancer spectrum
Quantification of abdominal fat from computed tomography using deep learning and its association with electronic health records in an academic biobank
2021
Journal of the American Medical Informatics Association: JAMIA
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity
2021
Science Translational Medicine
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative
2021
Genetics in Medicine: Official Journal of the American College of Medical Genetics
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations
2021
Nature Medicine
Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals
2021
Biological Psychiatry
Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis
2021
EMBO molecular medicine
Disrupting upstream translation in mRNAs is associated with human disease
2021
Nature Communications
MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data
2021
PLoS computational biology
Research on COVID-19 through patient-reported data: a survey for observational studies in the COVID-19 pandemic
2020
Journal of Clinical and Translational Science
Genetics of height and risk of atrial fibrillation: A Mendelian randomization study
2020
PLoS medicine
Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program
2020
Circulation
Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors
2020
Cancer Genetics
SARS-CoV-2 seroprevalence among parturient women in Philadelphia
2020
Science Immunology
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis
2020
Nature Genetics
A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes
2020
Genetics in Medicine: Official Journal of the American College of Medical Genetics
Association of FADS1/2 Locus Variants and Polyunsaturated Fatty Acids With Aortic Stenosis
2020
JAMA cardiology
Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease
2020
Journal of the American College of Cardiology
Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney-specific pathways
2020
Kidney International
Genetically Determined Birthweight Associates With Atrial Fibrillation: A Mendelian Randomization Study
2020
Circulation. Genomic and Precision Medicine
Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis
2020
Kidney International
Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry
2019
JAMA
Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment
2019
Neurology. Genetics
A regression framework to uncover pleiotropy in large-scale electronic health record data
2019
Journal of the American Medical Informatics Association: JAMIA
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants
2019
Circulation
Carnival: A Graph-Based Data Integration and Query Tool to Support Patient Cohort Generation for Clinical Research
2019
Studies in Health Technology and Informatics
The ADP/ATP translocase drives mitophagy independent of nucleotide exchange
2019
Nature
Soluble FMS-Like Tyrosine Kinase-1 Is a Circulating Biomarker Associated With Calcific Aortic Stenosis
2019
Journal of the American College of Cardiology
Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations
2019
Nature Communications
FBN1 Coding Variants and Nonsyndromic Aortic Disease
2019
Circulation. Genomic and Precision Medicine
Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors
2019
JAMA oncology
Genomic Risk Stratification Predicts All-Cause Mortality After Cardiac Catheterization
2018
Circulation. Genomic and Precision Medicine
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program
2018
Nature Genetics
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
2018
The New England Journal of Medicine
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
2018
Nature Communications
Cost and yield considerations when expanding recruitment for genetic studies: the primary open-angle African American glaucoma genetics study
2017
BMC medical research methodology
Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms
2017
Nature Genetics
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease
2017
The New England Journal of Medicine
51 - 100 of 102 Records

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