Author

Jan-Ulrich Schlump

Gemeinschaftskrankenhaus Herdecke

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Rami Abou JamraiD· 2 shared Aleš MaveriD· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared Alma Kuechler· 1 shared Andreas MerkenschlageriD· 1 shared Anja Finck· 1 shared Annabelle TuttleiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Rami Abou JamraORCID

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2 papers

Recent·Most cited

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pınar Bayrak‐Toydemir, Gary Rex Nelson, Kristen Nicole Wong, , Alexandre Reymond

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

medRxiv · Jan 14, 2024 · PreprintGenetic & Genomic Medicine

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, Maria Arélin, Carolin Baade‐Büttner, Tobias Bartolomaeus, Peter O. Bauer, Astrid Bertsche, Matthias Karl Bernhard, Saskia Biskup, Nataliya Di Donato, Magdeldin Elgizouli, Roland Ewald, Constanze Heine, Yorck Hellenbroich, , Rami Abou Jamra

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

bioRxiv · Mar 26, 2019 · PreprintGenetics