Author

Marina Villamor-Payà

Institute for Research in BiomedicineORCID 0000-0002-7288-4197Unclaimed 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 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

María Sanchiz-CalvoiD· 2 shared Travis H. StrackeriD· 2 shared Alysia Kern LovgreniD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Camille Stephan‐Otto AttoliniiD· 1 shared Christina Anne Austin-TseiD· 1 shared Gianluca Arauz‐GarofaloiD· 1 shared Grace E. VanNoyiD· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

María Sanchiz-CalvoORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn S. Pais, Malika Sud, Uma T. Shankavaram, Alysia Kern Lovgren, Christina Anne Austin-Tse, Vijay S Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz‐Garofalo, Lluís Palenzuela, Grace E. VanNoy, Anne O’Donnell‐Luria, Travis H. Stracker

The paper identifies a de novo TLK1 mutation linked to neurodevelopmental disorder and immunodeficiency, showing impaired kinase activity and altered cytokine responses.

medRxiv · Aug 22, 2023 · PreprintGenetic & Genomic Medicine

Tousled-like kinase activity is required for transcriptional silencing and suppression of innate immune signaling

Sandra Segura‐Bayona, Marina Villamor-Payà, Camille Stephan‐Otto Attolini, Lars M. König, María Sanchiz-Calvo, Simon J. Boulton, Travis H. Stracker

This study shows TLK1/2 activity protects replication forks, contributes to chromatin silencing, and suppresses innate immune responses, with implications for immune evasion in chromosomally unstable cancers.

Cell Reports · Aug 1, 2020Peer-reviewedMolecular Biology