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Publications

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Number of Publications: 147

Title
Year
Publication
Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education
2023
Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target
2023
Nature Genetics
A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids
2023
Alimentary Pharmacology & Therapeutics
Prior vaccination promotes early activation of memory T cells and enhances immune responses during SARS-CoV-2 breakthrough infection
2023
Nature Immunology
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy-Associated Genes in Patients Evaluated for Cardiac Sarcoidosis
2023
Circulation. Genomic and Precision Medicine
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes
2023
European Urology
Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers
2023
JCO precision oncology
The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort
2023
HGG advances
Large-scale identification of undiagnosed hepatic steatosis using natural language processing
2023
EClinicalMedicine
Association of Statin Use With Risk of Liver Disease, Hepatocellular Carcinoma, and Liver-Related Mortality
2023
JAMA network open
Penn Healthy Diet survey: pilot validation and scoring
2023
The British Journal of Nutrition
Genome-Wide Association Study of Breast Density among Women of African Ancestry
2023
Cancers
Phenotypes of undiagnosed adults with actionable OTC and GLA variants
2023
HGG advances
Genome-wide polygenic risk scores for hypertensive disease during pregnancy can also predict the risk for long-term cardiovascular disease
2023
American Journal of Obstetrics and Gynecology
Identifying Genetic Loci and Phenomic Associations of Substance Use Traits: A Multi-trait Analysis of GWAS (MTAG) study
2023
Addiction (Abingdon, England)
Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study
2023
European Heart Journal
Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program
2023
Circulation
Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort
2023
PLOS Genetics
Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions
2023
Journal of the American Heart Association
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
2022
Nature Genetics
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer
2022
European Urology
Whole-genome sequencing reveals host factors underlying critical COVID-19
2022
Nature
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
2022
Nature Genetics
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease
2022
Nature Genetics
Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank
2022
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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
51 - 100 of 147 Records

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