Author

A. Zygmunt

Cincinnati Children's Hospital Medical CenterORCID 0000-0002-1857-2029Unclaimed 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 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:scRNA-seq· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alan H. BeggsiD· 1 shared Alexei A. GromiD· 1 shared Andoni Echaniz‐LagunaiD· 1 shared Anna LaGroon· 1 shared Caitlin Treuting· 1 shared Carina Wallgren‐PetterssoniD· 1 shared Carmy R. ForneyiD· 1 shared Carsten G. BönnemanniD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alan H. BeggsORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintMay 7, 2026

Single nucleus RNA sequencing of juvenile dermatomyositis skeletal muscle identifies altered angiogenic signaling

Casey O. Swoboda, Carmy R. Forney, Cristofer Calvo…·Shannon K. O’Connor

This study uses single nucleus RNA sequencing to identify altered angiogenic signaling in JDM muscle, highlighting vascular and IFN pathways.

DOI 10.64898/2026.05.04.721749

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintOct 4, 2024

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

Lydia Sagath, K. Kiiski, Kireshnee Naidu…·Vilma‐Lotta Lehtokari

The paper identifies structural variants in the NEB gene across 35 families, showing large deletions cause dominant distal myopathy while recessive variants show no severity correlation.

DOI 10.1101/2024.10.04.24313542

humanwhole-exome sequencing

𝕏 PostBluesky