Author

Sara Ruiz Gil

University of Lübeck

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Biology Disciplines

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Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Beatriz PuisaciD· 1 shared Elisabeth GrafiD· 1 shared Erwan WatriniD· 1 shared Eskeatnaf MulugetaiD· 1 shared Farah DiabiD· 1 shared Feliciano J. RamosiD· 1 shared Frank J. Kaiser· 1 shared Ilaria ParentiiD· 1 shared

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2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperMolecular Biology

Beatriz PuisacORCID

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1 paper

Recent·Most cited

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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