Author

Carina Frykholm

Uppsala UniversityORCID 0000-0003-2626-3274Unclaimed 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 Approach:experimental assay· 2 Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

Hans MatssoniD· 2 shared Abolfazl RadiD· 1 shared Adam AmeuriD· 1 shared Agnes Söderberg· 1 shared Alexander KociD· 1 shared Alihossein Sabri· 1 shared Alireza SedaghatiD· 1 shared Alper GezdiriciiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hans MatssonORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 13, 2026

A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden

Adam Ameur, Fulya Taylan, Marlene Ek…·Hans Ehrencrona

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

DOI 10.64898/2026.10.09.26365121

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedApr 16, 2025

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

12 citations

𝕏 PostBluesky