Author

Sabine Hoffjan

Ruhr University BochumORCID 0009-0009-6280-1931Unclaimed 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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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Nataliya Di DonatoiD· 3 shared Alma Kuechler· 2 shared Evelin SchröckiD· 2 shared Tzung‐Chien HsiehiD· 2 shared Adrian S. WoolfiD· 1 shared Alain VerloèsiD· 1 shared Alexandra Marzena Morawiec· 1 shared Alexandra Tibelius· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Nataliya Di DonatoORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 21, 2024

Genomic and biological panoramas of non-muscle actinopathies

Nataliya Di Donato, Andrew Thom, Andreas Rump…·Siddharth Banka

The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.

4 citations

humanbulk RNA-seq

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Genetic & Genomic MedicinemedRxivPreprintApr 19, 2023

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann…·Lilian Tamara Kaufmann

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

12 citations

humanwhole-exome sequencing

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GeneticsbioRxivPreprintMar 26, 2019

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Benjamin Büttner, Sonja Martin, Anja Finck…·Rami Abou Jamra

The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky