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Publications

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Number of Publications: 122

Title
Year
Publication
Early prediction of decompensation (EPOD) score: Non-invasive determination of cirrhosis decompensation risk
2022
Liver International: Official Journal of the International Association for the Study of the Liver
Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection
2022
Proceedings of the National Academy of Sciences of the United States of America
A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population
2022
Otolaryngology--Head and Neck Surgery: Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
netCRS: Network-based comorbidity risk score for prediction of myocardial infarction using biobank-scaled PheWAS data
2022
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Genetic liability for substance use associated with medical comorbidities in electronic health records of African- and European-ancestry individuals
2022
Addiction Biology
A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank
2022
Human Molecular Genetics
Comorbidities in lichen planus by phenome-wide association study in two biobank population cohorts
2022
The British Journal of Dermatology
Recruitment strategies and lessons learned from a large genetic study of African Americans
2022
PLOS global public health
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
2022
Cell Genomics
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population
2022
Journal of Personalized Medicine
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
2022
PLoS genetics
Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank
2022
Cell Reports Medicine
A saturated map of common genetic variants associated with human height
2022
Nature
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure
2022
Nature Communications
Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population
2022
Journal of Translational Medicine
Decrease in Angiotensin-Converting Enzyme activity but not concentration in plasma/lungs in COVID-19 patients offers clues for diagnosis/treatment
2022
Molecular Therapy. Methods & Clinical Development
Cytomegalovirus Latent Infection is Associated with an Increased Risk of COVID-19-Related Hospitalization
2022
The Journal of Infectious Diseases
A first update on mapping the human genetic architecture of COVID-19
2022
Nature
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
2022
Nature Communications
Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors
2022
Circulation
Germline Mutations in CIDEB and Protection against Liver Disease
2022
The New England Journal of Medicine
MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data
2021
PLoS computational biology
Disrupting upstream translation in mRNAs is associated with human disease
2021
Nature Communications
Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis
2021
EMBO molecular medicine
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
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity
2021
Science Translational Medicine
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
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
Rates of COVID-19-Related Outcomes in Cancer Compared With Noncancer Patients
2021
JNCI cancer spectrum
Seasonal human coronavirus antibodies are boosted upon SARS-CoV-2 infection but not associated with protection
2021
Cell
Genetically Downregulated Interleukin-6 Signaling Is Associated With a Favorable Cardiometabolic Profile: A Phenome-Wide Association Study
2021
Circulation
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults
2021
Human Genetics
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry
2021
Scientific Reports
SARS-CoV-2 Seropositivity and Seroconversion in Patients Undergoing Active Cancer-Directed Therapy
2021
JCO oncology practice
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
2021
American Journal of Human Genetics
Mapping the human genetic architecture of COVID-19
2021
Nature
The power of genetic diversity in genome-wide association studies of lipids
2021
Nature
Targeting the coronavirus nucleocapsid protein through GSK-3 inhibition
2021
Proceedings of the National Academy of Sciences of the United States of America
A genome-first approach to mortality and metabolic phenotypes in MTARC1 p.Ala165Thr (rs2642438) heterozygotes and homozygotes
2021
Med (New York, N.Y.)
Derivation and Validation of Genome-Wide Polygenic Score for Ischemic Heart Failure
2021
Journal of the American Heart Association
Genetically Determined Birthweight Associates With Atrial Fibrillation: A Mendelian Randomization Study
2020
Circulation. Genomic and Precision Medicine
Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney-specific pathways
2020
Kidney International
Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease
2020
Journal of the American College of Cardiology
Association of FADS1/2 Locus Variants and Polyunsaturated Fatty Acids With Aortic Stenosis
2020
JAMA cardiology
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
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
Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors
2020
Cancer Genetics
Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program
2020
Circulation
SARS-CoV-2 seroprevalence among parturient women in Philadelphia
2020
Science Immunology
51 - 100 of 122 Records

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