Author

Stephen J. Murphy

Mayo ClinicORCID 0000-0002-8630-5897Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Abdulmohammad PezeshkiiD· 1 shared Alexa McCune· 1 shared Alyssa M. Larish· 1 shared Andrea MarianiiD· 1 shared Angela B. Florio· 1 shared Angela M. PickartiD· 1 shared Devin OglesbeeiD· 1 shared Dorsay SadeghianiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenomics

Abdulmohammad PezeshkiORCID

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2 papers

Recent·Most cited

Functional impact of the hyperduplication genomophenotype in high copy number endometrial cancer

Angela B. Florio, James B. Smadbeck, Sarah H. Johnson, Wan‐Hsin Lin, Dorsay Sadeghian, Sotiris Sotiriou, Rebeca Salvatori, Ryan W. Feathers, Taylor Berry, Lindsey Kinsella, Faye R. Harris, Alexa McCune, Stephen J. Murphy, Mohamed F. Ali, Abdulmohammad Pezeshki, , George Vasmatzis

The paper investigates the functional impact of the HyperDuplication GenomoPhenotype in high copy number endometrial cancer, showing it enhances tumor fitness and therapy resistance through coordinated duplication of oncogenes.

iScience · Jun 7, 2025Peer-reviewedGenomics

Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing

Qiliang Ding, Jagadheshwar Balan, Noemi Vidal‐Folch, Angela M. Pickart, Guangchao Sun, Jesse R. Walsh, Ramanath Majumdar, Eric W. Klee, Stephen J. Murphy, Devin Oglesbee, Ross A. Rowsey, Linda Hasadsri

This study uses long-read sequencing to re-evaluate the pathogenicity of intragenic DMD duplications, finding that many are non-tandem and likely benign.

medRxiv · Apr 10, 2025 · PreprintGenetic & Genomic Medicine