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Number of Publications: 102

Title
Year
Publication
Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival
2024
Journal of the National Cancer Institute
Clinical correlates of CT imaging-derived phenotypes among lean and overweight patients with hepatic steatosis
2024
Scientific Reports
Polygenic risk scores for cardiometabolic traits demonstrate importance of ancestry for predictive precision medicine
2024
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Lymphocyte Count Derived Polygenic Score and Interindividual Variability in CD4 T-cell Recovery in Response to Antiretroviral Therapy
2024
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions
2023
Journal of the American Heart Association
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
Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program
2023
Circulation
Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study
2023
European Heart Journal
Identifying Genetic Loci and Phenomic Associations of Substance Use Traits: A Multi-trait Analysis of GWAS (MTAG) study
2023
Addiction (Abingdon, England)
Genome-Wide Association Study of Breast Density among Women of African Ancestry
2023
Cancers
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
Phenotypes of undiagnosed adults with actionable OTC and GLA variants
2023
HGG advances
Genome-Wide Association Study of Breast Density among Women of African Ancestry
2023
Cancers
Association of Statin Use With Risk of Liver Disease, Hepatocellular Carcinoma, and Liver-Related Mortality
2023
JAMA network open
Large-scale identification of undiagnosed hepatic steatosis using natural language processing
2023
EClinicalMedicine
Penn Healthy Diet survey: pilot validation and scoring
2023
The British Journal of Nutrition
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
A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids
2023
Alimentary Pharmacology & Therapeutics
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes
2023
European Urology
Prevalence of Pathogenic Variants in Dilated Cardiomyopathy-Associated Genes in Patients Evaluated for Cardiac Sarcoidosis
2023
Circulation. Genomic and Precision Medicine
Prior vaccination promotes early activation of memory T cells and enhances immune responses during SARS-CoV-2 breakthrough infection
2023
Nature Immunology
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target
2023
Nature Genetics
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
Comorbidities in lichen planus by phenome-wide association study in two biobank population cohorts
2022
The British Journal of Dermatology
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
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
A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank
2022
Human Molecular Genetics
Genetic liability for substance use associated with medical comorbidities in electronic health records of African- and European-ancestry individuals
2022
Addiction Biology
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
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
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
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease
2022
Nature Genetics
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
2022
Nature Genetics
Whole-genome sequencing reveals host factors underlying critical COVID-19
2022
Nature
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer
2022
European Urology
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
Germline Mutations in CIDEB and Protection against Liver Disease
2022
The New England Journal of Medicine
Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors
2022
Circulation
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
2022
Nature Communications
A first update on mapping the human genetic architecture of COVID-19
2022
Nature
Cytomegalovirus Latent Infection is Associated with an Increased Risk of COVID-19-Related Hospitalization
2022
The Journal of Infectious Diseases
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
Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population
2022
Journal of Translational Medicine
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure
2022
Nature Communications
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
2022
PLoS genetics
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population
2022
Journal of Personalized Medicine
A saturated map of common genetic variants associated with human height
2022
Nature
Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank
2022
Cell Reports Medicine
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
2022
Cell Genomics
1 - 50 of 102 Records

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