Author

Paul‐Martin Holterhus

University Hospital Schleswig-HolsteinORCID 0000-0002-9308-3129Unclaimed 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-genome sequencing· 1

Frequent Co-Authors

Ana Paula SantosiD· 1 shared Andréa Trevas Maciel‐GuerraiD· 1 shared Axel KünstneriD· 1 shared Cristiane S.C. PivetaiD· 1 shared Frank J. Kaiser· 1 shared Gil Guerra‐JúnioriD· 1 shared Hauke S. BuschiD· 1 shared Helena Fabbri‐ScalletiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ana Paula SantosORCID

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1 paper

Recent·Most cited

Disruption of the topological associated domain at Xp21.2 is related to gonadal dysgenesis: A general mechanism of pathogenesis

Ana Paula Santos, Jakob A. Meinel, Cristiane S.C. Piveta, Juliana Gabriel Ribeiro de Andrade, Helena Fabbri‐Scallet, Vera Lúcia Gil‐da‐Silva‐Lopes, Gil Guerra‐Júnior, Axel Künstner, Frank J. Kaiser, Paul‐Martin Holterhus, Olaf Hiort, Hauke S. Busch, Andréa Trevas Maciel‐Guerra, Maricilda Palandi de Mello, Ralf Werner

The paper shows that structural variations at Xp21.2 disrupt a TAD boundary, leading to gonadal dysgenesis through altered gene regulation.

medRxiv · Mar 25, 2020 · PreprintGenetic & Genomic Medicine