Author

Anja Holz

Praxis für Humangenetik TübingenORCID 0000-0002-1688-1805Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Arndt BorkhardtiD· 1 shared Cécile LibioulleiD· 1 shared Clara van KarnebeekiD· 1 shared Claudia Haase· 1 shared Claudia Stollbrink-Peschgens· 1 shared Clemens J. Sommer· 1 shared Dagmar WieczorekiD· 1 shared Daniela ChoukairiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Arndt BorkhardtORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineJournal of Clinical InvestigationPeer-reviewedMay 4, 2021

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

Eva Lausberg, Sebastian Gießelmann, Joseph P. Dewulf…·Florian Kraft

The paper identifies mutations in the C2orf69 gene as the cause of a human multisystem disorder characterized by autoinflammation, leukoencephalopathy, and hepatopathy.

23 citations

humanwhole-exome sequencing

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