Author

Katharina Vill

LMU KlinikumORCID 0000-0003-1925-7538Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Assay:ChIP-seq· 1 Research Focus:drug response / drug discovery· 1

Frequent Co-Authors

Elisabeth GrafiD· 2 shared Felix DistelmaieriD· 2 shared Juliane WinkelmanniD· 2 shared Kevork Derderian· 2 shared Matias WagneriD· 2 shared Maureen JacobiD· 2 shared Melanie BrüggeriD· 2 shared Michael ZechiD· 2 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Elisabeth GrafORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort

Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian R. Hölzlwimmer, Elisabetta Indelicato, Birgit E. Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brügger, Kevork Derderian, Felix Distelmaier, Philip Harrer, , Michael Zech

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

Annals of Neurology · Feb 2, 2026Peer-reviewedGenetic & Genomic Medicine

Systematic assessment of rare and de novo structural variants in 57 patient-parent trios using optical genome mapping

Bart P. G. H. van der Sanden, Sandra Vorimo, Theresa Brunet, Aïcha Boughalem, Maureen Jacob, Ronald van Beek, Eveline J. Kamping, Elisa Rahikkala, Outi Kuismin, Jukka Moilanen, Katri Pylkäs, Elisabeth Graf, Sandy Lösecke, Melanie Brügger, Kevork Derderian, , Alexander Hoischen

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

medRxiv · Jan 21, 2026 · PreprintGenetic & Genomic Medicine

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder

Marissa J. Maroni, Melissa Barton, Katherine Lynch, Ashish R. Deshwar, Philip D. Campbell, Josephine Millard, Rachel Lee, Annastelle Cohen, Rili Ahmad, Alekh Paranjapye, Víctor Faùndes, Gabriela M. Repetto, Caoimhe S. McKenna, Amelle Shillington, Chanika Phornphutkul, , Erica Korb

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

medRxiv · Oct 31, 2024 · PreprintGenetic & Genomic Medicine