Author

Penelope E. Bonnen

Baylor College of MedicineORCID 0000-0001-5581-5301Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Ahmad AlahmadiD· 1 shared Amy Goldstein· 1 shared Benjamin Lucas· 1 shared Buthaina AlbashiD· 1 shared Charlotte L. AlstoniD· 1 shared Christopher A. PowelliD· 1 shared Daniela Verrigni· 1 shared Daniele GhezziiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Ahmad AlahmadORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 15, 2024

Leveraging Clinical, Functional, Molecular and Population Genetic Data Reveals Genotype Phenotype Association and Health Disparity in a Monogenic Disorder, CTX

Jennifer Hanson, Penelope E. Bonnen

This study identifies genotype-phenotype associations and health disparities in CTX by integrating clinical, functional, molecular, and population genetic data.

1 citation

humanDNA methylation

𝕏 PostBluesky

GeneticsHuman MutationPeer-reviewedMay 2, 2019

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing

Makenzie Saoura, Christopher A. Powell, Robert Kopajtich…·Michal A. Minczuk

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.

51 citations

humanDNA methylation

𝕏 PostBluesky