Author

Daniel Owrang

Universitätsmedizin GöttingenORCID 0000-0002-3055-3613Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:zebrafish· 1

Frequent Co-Authors

Barbara VonaiD· 3 shared Friederike Jahnke· 2 shared Abolfazl RadiD· 1 shared Alihossein Sabri· 1 shared Alireza SedaghatiD· 1 shared Alper GezdiriciiD· 1 shared Anahid Hemmatpour· 1 shared Andrew E. FryiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Barbara VonaORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedJul 29, 2026

PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery

Paria Najarzadeh Torbati, Lukas Hallbrucker, Michaela A. H. Hofrichter…·Barbara Vona

The paper identifies a homozygous splice-site variant in PALM3 and a missense variant in OTOA in a family with autosomal recessive hearing loss, supporting PALM3 as a candidate gene through functional and comparative analysis.

1 citation

humanstatistical model

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GeneticsSTAR ProtocolsPeer-reviewedJun 18, 2025

Protocol for a minigene splice assay using the pET01 vector

Hannah Andreae, Marialessandra Curcio, Daniel Owrang…·Barbara Vona

The paper describes a protocol for an in vitro minigene splice assay using the pET01 vector to study aberrant splicing when patient samples or accessible tissues are unavailable.

5 citations

experimental assay

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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

humanzebrafish

𝕏 PostBluesky