Penn Medicine
Penn Medicine BioBank
Penn MEdicine BioBank Logo

Publications

Google Scholar

Number of Publications: 130

Title
Year
Publication
A series of randomized trials of behavioral economic interventions to increase racial and ethnic diversity of research participants:Rationale and design of ITERATE
2025
American Heart Journal
Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach
2025
JHEP reports: innovation in hepatology
Polygenic risk scores for cardiometabolic traits demonstrate importance of ancestry for predictive precision medicine
2025
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk
2025
Genetics in Medicine: Official Journal of the American College of Medical Genetics
Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores
2025
JAMA
Hidden structure in polygenic scores and the challenge of disentangling ancestry interactions in admixed populations
2025
bioRxiv: The Preprint Server for Biology
Titin-Truncating variants predispose to dilated cardiomyopathy in populations genetically similar to african and european reference populations
2025
PLoS genetics
Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum
2025
Nature Genetics
Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks
2024
Journal of Translational Medicine
The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD
2024
Med (New York, N.Y.)
CT imaging-derived phenotypes for abdominal muscle and their association with age and sex in a medical biobank
2024
Scientific Reports
Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks
2024
BMC medicine
Polygenic risk scores for cardiometabolic traits demonstrate importance of ancestry for predictive precision medicine
2024
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Association between genetic risk and adherence to healthy lifestyle for developing age-related hearing loss
2024
BMC medicine
A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipids
2024
Hepatology Communications
Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation
2024
Circulation. Genomic and Precision Medicine
Estimated clinical utility of multi-gene pharmacogenetic testing in a retrospective cohort of gynecology patients
2024
Pharmacogenomics
Author Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes
2024
Genome Biology
PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients
2024
Genetics in Medicine Open
Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores
2024
JAMA
Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk
2024
Genetics in Medicine: Official Journal of the American College of Medical Genetics
Bidirectional Risk Modulator and Modifier Variant of Dilated and Hypertrophic Cardiomyopathy in BAG3
2024
JAMA cardiology
Protein-truncating variant in APOL3 increases chronic kidney disease risk in epistasis with APOL1 risk alleles
2024
JCI insight
Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions
2024
HGG advances
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
2024
HGG advances
Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes
2024
Genome Biology
Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes
2024
Nature Human Behaviour
Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes
2024
Diabetes Care
Multi-ancestry polygenic risk scores for venous thromboembolism
2024
Human Molecular Genetics
Genome-Wide Association Study Identifies Genes for Hair Growth and Patterning are Associated With Pilonidal Disease
2024
Diseases of the Colon and Rectum
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
Clinical correlates of CT imaging-derived phenotypes among lean and overweight patients with hepatic steatosis
2024
Scientific Reports
Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival
2024
Journal of the National Cancer Institute
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
1 - 50 of 130 Records

© The Trustees of the University of Pennsylvania | Privacy Policy | Report Accessibility Issues and Get Help