Author

Karolina M. Stępień

Northern Care Alliance NHS Foundation TrustORCID 0000-0003-0148-6332Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Physiology· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 2 Research Focus:cell type annotation· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Assay:imaging· 1

Frequent Co-Authors

Alfonso Bueno‐OrovioiD· 1 shared Angela M. Martin Rios· 1 shared C S SmithiD· 1 shared Charalampos SigalasiD· 1 shared Dave SmithiD· 1 shared David Priestman· 1 shared Duncan Burnaby SparrowiD· 1 shared Emily AkermaniD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperPhysiology

Alfonso Bueno‐OrovioORCID

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2 papers

Recent·Most cited

PhysiologybioRxivPreprintJul 9, 2026

Molecular and Structural Basis of Cardiac Remodelling in Niemann-Pick Type C

Qianqian Song, Ishika Prachee, Karolina M. Stępień…·Rebecca A.B. Burton

This study identifies cardiac involvement in Niemann-Pick type C through ECG abnormalities, fibrosis, and transcriptomic changes in patients and Npc1-/- mice.

DOI 10.64898/2026.07.05.736597

mousehuman

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Genetic & Genomic MedicineNeurology GeneticsPeer-reviewedNov 7, 2025

Expanding the phenotype spectrum of β-mannosidosis

Angela M. Martin Rios, Karolina M. Stępień, Liliane Gibbs…·Virginia E. Kimonis

The paper expands the clinical, biochemical, and brain imaging phenotype spectrum of β-mannosidosis by analyzing 44 patients and describing new features and genetic variants.

5 citations

humanbulk RNA-seq

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