Author

Guido Zagnoli-Vieira

University of CambridgeORCID 0000-0002-5656-1056Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aldo S. BaderiD· 1 shared Anirban MajumdariD· 1 shared Christopher J. CarnieiD· 1 shared Damian P. SmedleyiD· 1 shared Emma M. ClementiD· 1 shared Estelle ColiniD· 1 shared Grant S. StewartiD· 1 shared Isabelle ThiffaultiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Aldo S. BaderORCID

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1 paper

Recent·Most cited

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay

Soren H. Hough, Satpal S. Jhujh, Samah W. Awwad, Oliver Lewis, Simon Lam, John Christopher Thomas, Thorsten Mosler, Aldo S. Bader, Lauren E. Bartik, Shane A McKee, Shivarajan Manickavasagam Amudhavalli, Estelle Colin, Nadirah S. Damseh, Emma M. Clement, Pilar Cacheiro, , Stephen P. Jackson

The paper identifies MAEA as a critical regulator of DNA repair and replication, with loss of function causing developmental delay and neurodevelopmental deficits.

EMBO Molecular Medicine · Dec 19, 2025Peer-reviewedGenetics