Author

Susanne Freier

Max Planck Institute for Molecular Genetics

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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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2

Frequent Co-Authors

Andreas MayeriD· 2 shared Achim TreschiD· 1 shared Alaa Arafat· 1 shared Annkatrin BressiniD· 1 shared Bruno ReversadeiD· 1 shared Carine BonnardiD· 1 shared Elisabeth AltendorferiD· 1 shared Jason M. Müller· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersBioinformatics

Andreas MayerORCID

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2 papers

Recent·Most cited

Halfpipe: a tool for analyzing metabolic labeling RNA-seq data to quantify RNA half-lives

Jason M. Müller, Elisabeth Altendorfer, Susanne Freier, Katharina Moos, Andreas Mayer, Achim Tresch

Halfpipe quantifies RNA half-lives from metabolic labeling RNA-seq data, showing similar half-lives for constantly expressed RNAs in mitosis and G1 phase.

NAR Genomics and Bioinformatics · Jan 7, 2025Peer-reviewedBioinformatics

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing

Nasrinsadat Nabavizadeh, Annkatrin Bressin, Poh Hui Chia, Ricardo Moreno Traspas, Nathalie Escande‐Beillard, Carine Bonnard, Zohreh Hojati, Scott B. Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Mohammad Shboul, , Bruno Reversade

The paper identifies a deep intronic TAPT1 mutation causing progeroid syndrome using RNA-seq and homozygosity mapping, showing it leads to exon skipping and protein-null allele.

medRxiv · Jul 15, 2022 · PreprintGenetic & Genomic Medicine