Author

Robin Paluch

Essen University HospitalORCID 0009-0005-8570-5126Unclaimed 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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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

A.C. Cullier· 1 shared Adélaïde Brosseau-Beauvir· 1 shared Agnès Guichet· 1 shared Alexander J. M. BlakesiD· 1 shared Alice GoldenbergiD· 1 shared Alison J. CoffeyiD· 1 shared Amandine SantiniiD· 1 shared Ange‐Line BrueliD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A.C. Cullier

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 4, 2026

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

Elston N. D’Souza, Alexander J. M. Blakes, Robin Paluch…·Nicola Whiffin

The paper provides guidance for classifying variants in snRNA genes and introduces RNUdb, a tool to support variant annotation and classification.

DOI 10.64898/2026.08.03.26359558

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão, Amandine Santini, Benjamin Cogné…·Johanna Herwig

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

8 citationstop 1%

humanbulk RNA-seq

𝕏 PostBluesky