Author

Maria Faßhauer

Klinikum St. GeorgORCID 0000-0003-4543-8543Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Immunology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:host-pathogen & immune response· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam Desrochers· 1 shared Antonia Eicher· 1 shared Arek KendirliiD· 1 shared Baerbel KelleriD· 1 shared Bernt PoppiD· 1 shared Catharina SchütziD· 1 shared Christine WolfiD· 1 shared Denny Popp· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperImmunology

Adam Desrochers

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2 papers

Recent·Most cited

ImmunologybioRxivPreprintNov 9, 2025

Truncating RELA variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-kB

Nadja Lucas, Sophia Weidler, Antonia Eicher…·Min Ae Lee‐Kirsch

This study identifies truncating RELA variants causing autoinflammation and autoimmunity by disrupting NF-κB feedback control and immune homeostasis.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineHuman MutationPeer-reviewedJan 1, 2025

Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti

Simone Ahting, Denny Popp, Henry Oppermann…·Isabell Schumann

The paper uses nanopore sequencing to accurately phase a heterozygous deletion in the IKBKG gene in an IP family, confirming its location and X-inactivation status.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky