Author

Beatriz Puisac

Universidad de ZaragozaORCID 0000-0003-0170-7326Unclaimed ORCID profile · follow to get notified of new preprints

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

Feliciano J. RamosiD· 2 shared Frank J. Kaiser· 2 shared Ilaria ParentiiD· 2 shared Juan PiéiD· 2 shared Juliane Eckhold· 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

Feliciano J. RamosORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMar 30, 2026

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

Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador…·Frank J. Kaiser

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

2 citationstop 3%

humanDNA methylation

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Molecular BiologyCell ReportsPeer-reviewedMay 1, 2020

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…·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.

60 citationstop 3%

humanexperimental assay

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