Author

Heike Kölbel

University of Duisburg-EssenORCID 0000-0001-9629-7053Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Approach:benchmark study· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1

Frequent Co-Authors

Afsaneh Taghipour‐SheshdehiD· 1 shared Alastair R. W. KerriD· 1 shared Alba Segarra‐CasasiD· 1 shared Alexander HoischeniD· 1 shared Ana TöpfiD· 1 shared Andreas RoosiD· 1 shared Anna Esteve‐CodinaiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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Curved chords = mutual co-authorship

1 shared paperNeuroscience

Afsaneh Taghipour‐SheshdehORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 14, 2026

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

Vicente A. Yépez, Rebeka Luknárová, Danique Beijer…·Julien Gagneur

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

1 citation

humanbulk RNA-seq

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NeuroscienceEMBO Molecular MedicinePeer-reviewedDec 15, 2025

Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.

Brett William Stringer, Yougang Zhang, Afsaneh Taghipour‐Sheshdeh…·Jean Giacomotto

The paper uses a zebrafish model to test the pathogenicity of SMN1 variants in SMA patients, showing that two variants were non-pathogenic and avoiding costly treatments.

4 citations

zebrafishexperimental assay

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GeneticsEBioMedicinePeer-reviewedDec 17, 2019

A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its Pathomechanism

Peter Meinke, Alastair R. W. Kerr, Rafal Czapiewski…·Eric C. Schirmer

34 citations

humanwhole-exome sequencing

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