Author

Elizabeth Packard

University of Pennsylvania

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Daniel James RaderiD· 1 shared Joseph ParkiD· 1 shared Marylyn DeRiggi RitchieiD· 1 shared Michael G. LeviniD· 1 shared Renae JudyiD· 1 shared Scott M. DamraueriD· 1 shared Sharlene M. DayiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Daniel James RaderORCID

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1 paper

Recent·Most cited

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank

Joseph Park, Elizabeth Packard, Michael G. Levin, Renae Judy, Scott M. Damrauer, Sharlene M. Day, Marylyn DeRiggi Ritchie, Daniel James Rader

The paper evaluates gene burden tests for rare variants in MYBPC3 and MYH7 using exome data and EHRs, finding differing associations between pLOF and pDM variants and HCM.

Human Molecular Genetics · Sep 16, 2021Peer-reviewedGenetic & Genomic Medicine