Publications by authors named "x Cruz"

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QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning.
Selen Ozkan, Natàlia Padilla, Xavier de la Cruz

Hum Genet· March 2025

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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Xavier de la Cruz

Hum Genet· March 2025

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PHF2-mediated H3K9me balance orchestrates heterochromatin stability and neural progenitor proliferation.
Samuel Aguirre, Stella Pappa, Núria Serna-Pujol, Natalia Padilla, Simona Iacobucci, Xavier de la Cruz

EMBO Rep· August 2024

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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Xavier de la Cruz

bioRxiv· June 2024

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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.
Luz-Marina Porras, Natàlia Padilla, Alejandro Moles-Fernández, Lidia Feliubadaló, Marta Santamariña-Pena, Xavier de la Cruz

J Mol Diagn· January 2024

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