Author

Emil Schober

University of CologneORCID 0009-0004-5035-3100Unclaimed 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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Approach:benchmark study· 1 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

Frequent Co-Authors

Hormos Salimi DafsariiD· 2 shared Aastha Gandhi· 1 shared Abolfazl RadiD· 1 shared Adam AntebiiD· 1 shared Alice E. DavidsoniD· 1 shared Ana Lisa Taylor TavaresiD· 1 shared Andrew C. GilesiD· 1 shared Anna B Verwillow· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hormos Salimi DafsariORCID

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2 papers

Recent·Most cited

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

Stéphanie Efthymiou, Keisuke Tabata, Hormos Salimi Dafsari, Emil Schober, Christian Latza, Mine Isaoglu, Anwar Abuelrub, Abolfazl Rad, Zahra Firoozfar, Valentina Turchetti, Renee Q Lin, Reza Maroofian, Sarah Wiethoff, Erum Afzal, Faisal Zafar, , Henry Houlden

This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.

medRxiv · Sep 1, 2026 · PreprintGenetic & Genomic Medicine

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments

David Cheerie, Margaret M. Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, Aubrie Soucy, Emma Sherrill, Stefanie Leonard, Stephan Sanders, Emily J. Blake, Nour M. Elkhateeb, Aastha Gandhi, Nicole Si Yan Liang, J. Morgan, , Marlen C. Lauffer

The paper presents consensus guidelines for assessing pathogenic variants' eligibility for antisense oligonucleotide treatments, including classification criteria and considerations for different therapeutic approaches.

The American Journal of Human Genetics · Mar 26, 2025Peer-reviewedGenetic & Genomic Medicine