Author

Hanna Fischer

Primary ORCID profile (0000-0003-1959-7997 · 1 paper)Unclaimed ORCID profile · follow to get notified of new preprints

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Hanna FischeriD1 paper · University of Würzburg

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abhilasha JakhariD· 1 shared Alexandra AfenjariD· 1 shared Alice GoldenbergiD· 1 shared Alissa M. D’GamaiD· 1 shared Almuth CaliebeiD· 1 shared Amandine SantiniiD· 1 shared Andrée Delahaye‐DurieziD· 1 shared Anne Dieux‐CoëslieriD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abhilasha JakharORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMay 16, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Amandine Santini…·Radu Harbuz

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

57 citationstop 1%

humanwhole-genome sequencing

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