Author

Amund Holte Berger

Haukeland University HospitalORCID 0000-0001-6973-2048Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Eirik BratlandiD· 2 shared Stefan JohanssoniD· 2 shared Anette S. B. WolffiD· 1 shared Anna AxakovaiD· 1 shared Atina G. CotéiD· 1 shared Bergithe Eikeland OftedaliD· 1 shared Daniel R. TabetiD· 1 shared Eystein S. HusebyeiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 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

2 shared papersGenetics

Eirik BratlandORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

GeneticsThe American Journal of Human GeneticsPeer-reviewedAug 6, 2026

Systematic and proactive evaluation of AIRE missense variant effects

Anna Axakova, Amund Holte Berger, Warren van Loggerenberg…·Frederick P. Roth

This study proactively evaluates the functional effects of 9790 AIRE missense variants using a reporter assay, providing evidence for 70% of previously classified variants of uncertain significance.

DOI 10.1016/j.ajhg.2026.07.008

humanexperimental assay

𝕏 PostBluesky

GenomicsFrontiers in ImmunologyPeer-reviewedApr 22, 2025

High-Resolution Transcriptional Impact of AIRE: Effects of Pathogenic Variants p.Arg257Ter, p.Cys311Tyr, and Polygenic Risk Variant p.Arg471Cys

Amund Holte Berger, Bergithe Eikeland Oftedal, Anette S. B. Wolff…·Stefan Johansson

The paper evaluates the transcriptional impact of three AIRE variants using a cell system, showing different functional effects on gene expression.

4 citations

humanbulk RNA-seq

𝕏 PostBluesky