Author

Juliane Eckhold

Essen University Hospital

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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Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Beatriz PuisaciD· 2 shared Feliciano J. RamosiD· 2 shared Frank J. Kaiser· 2 shared Ilaria ParentiiD· 2 shared Juan PiéiD· 2 shared Kerstin S. WendtiD· 2 shared Alexander A.L. JorgeiD· 1 shared Alina HestersiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Beatriz PuisacORCID

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2 papers

Recent·Most cited

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador, Laura Duffy, Deniz Kanber, Jasmin Beygo, Jennifer Kerkhof, Laura Steenpaß, Elsa Leitão, Julia Woestefeld, Philip M. Boone, Emeline M. Kao, Lama AlAbdi, Hesham Aldhalaan, Fowzan Sami Alkuraya, , Frank J. Kaiser

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

Nature Communications · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL

Ilaria Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casà, Riccardo Berutti, Rutger W. W. Brouwer, Valérie Dupé, Juliane Eckhold, Elisabeth Graf, Beatriz Puisac, Feliciano J. Ramos, Thomas Schwarzmayr, Macarena Moronta Gines, Thomas van Staveren, , Kerstin S. Wendt

The paper investigates variants in MAU2 and NIPBL in CdLS, showing NIPBL haploinsufficiency as the main cause and revealing a protective mechanism for NIPBL out-of-frame mutations.

Cell Reports · May 1, 2020Peer-reviewedMolecular Biology