Author

Margherita Milone

Mayo ClinicORCID 0000-0002-4338-9007Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:scRNA-seq· 1

Frequent Co-Authors

Angelo PolettiiD· 1 shared B. TedescoiD· 1 shared Dong Seong ChoiD· 1 shared Douglas Y. Smith· 1 shared Han DuongiD· 1 shared Jason D. DolesiD· 1 shared Jiayan TaniD· 1 shared Liliane GibbsiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Angelo PolettiORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

A novel c.515delC HSPB8-multisystem proteinopathy associated with inclusion body myopathy with cardiomyopathy

Jiayan Tan, Han Duong, Margherita Milone, Liliane Gibbs, B. Tedesco, Angelo Poletti, Virginia E. Kimonis

The paper reports a novel HSPB8 mutation causing multisystem proteinopathy with inclusion body myopathy and cardiomyopathy, highlighting sex differences in disease severity and onset.

medRxiv · Jul 17, 2024 · PreprintGenetic & Genomic Medicine

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

Rebecca E. Schmitt, Douglas Y. Smith, Dong Seong Cho, Lindsey A. Kirkeby, Zachary T. Resch, Teerin Liewluck, Zhiyv Niu, Margherita Milone, Jason D. Doles

The paper develops an iPSC-based model of GNE myopathy, revealing myogenic differentiation defects and implicating EIF2 signaling in disease mechanisms.

npj Regenerative Medicine · Sep 9, 2022Peer-reviewedDevelopmental Biology