Author

Anna Hammarsjö

Karolinska University HospitalORCID 0000-0001-6585-0944Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:dimensionality reduction· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Angelica Maria Delgado-VegaiD· 2 shared Ann NordgreniD· 2 shared Anna LindstrandiD· 2 shared Anna WedelliD· 2 shared Fulya TaylaniD· 2 shared Irene DubaiD· 2 shared Kristina KarrmaniD· 2 shared Nadja Pekkola PachecoiD· 2 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Angelica Maria Delgado-VegaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy

Adam Jackson, Alexander J. M. Blakes, Bader Alhaddad…·Siddharth Banka

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

1 citation

humanstatistical model

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Genetic & Genomic MedicinemedRxivPreprintFeb 23, 2026

Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy

Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba…·Tommy Stödberg

The paper identifies 14 individuals with biallelic RNU2-2 variants causing a severe developmental and epileptic encephalopathy, supported by phenotyping and fibroblast RNA sequencing.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky