Author

Joachim Weis

RWTH Aachen UniversityORCID 0000-0003-3280-6773Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

Florian KraftiD· 2 shared Ingo KurthiD· 2 shared Matthias BegemanniD· 2 shared Michael MulliD· 2 shared Miriam ElbrachtiD· 2 shared Alaa OthmaniD· 1 shared Anja HolziD· 1 shared Arndt BorkhardtiD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Florian KraftORCID

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2 papers

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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GeneticsJournal of Clinical InvestigationPeer-reviewedJan 8, 2019

Aberrant DEGS1 sphingolipid metabolism impairs central and peripheral nervous system function in humans

Gergely Karsai, Florian Kraft, Natja Haag…·Ingo Kurth

This study identifies a DEGS1 mutation causing sphingolipid metabolism defects, leading to neurological disorders and suggests dietary intervention as a potential treatment.

121 citations

humanwhole-exome sequencing

𝕏 PostBluesky