Author

Daniel Carlberg

Skåne University Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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 Assay:bulk RNA-seq· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ann NordgreniD· 2 shared Anna WedelliD· 2 shared Daniel NilssoniD· 2 shared Fulya TaylaniD· 2 shared Irene DubaiD· 2 shared Kristina KarrmaniD· 2 shared Nicole LeskoiD· 2 shared Olivia J. HenryiD· 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

Ann NordgrenORCID

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2 papers

Recent·Most cited

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

Adam Ameur, Fulya Taylan, Marlene Ek, Jesper Eisfeldt, Susana Häggqvist, Maria Pettersson, Ignas Bunikis, Joakim Klar, Ida Höijer, Maria Strandh, Rebecca Josefson, Michela Barbaro, Anna Beskow, Anders Blomberg, Marie-Louise Bondeson, , Hans Ehrencrona

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

medRxiv · Oct 13, 2026 · PreprintGenetic & Genomic Medicine

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

Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus K. O. Burstedt, Daniel Carlberg, Angelica Maria Delgado-Vega, Anna Hammarsjö, S. A. Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Asa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, , 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.

medRxiv · Feb 23, 2026 · PreprintGenetic & Genomic Medicine