Xavier De La Cruz

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 47 publications

CRONDEX: a web-based platform for exploring links between chromatin-related genes and neurodevelopmental disorders.

CRONDEX: a web-based platform for exploring links between chromatin-related genes and neurodevelopmental disorders.

Journal: Clinical epigenetics

Published: February 02, 2026

Epigenetic regulation of serine biosynthesis by PHF8 during neurogenesis.

Epigenetic regulation of serine biosynthesis by PHF8 during neurogenesis.

Journal: EMBO reports

Published: May 13, 2025

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.

Journal: bioRxiv : the preprint server for biology

Published: May 27, 2024

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.

Journal: Human genetics

Published: May 22, 2024

QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning.

QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning.

Journal: Human genetics

Published: April 30, 2024

PHF2-mediated H3K9me balance orchestrates heterochromatin stability and neural progenitor proliferation.

PHF2-mediated H3K9me balance orchestrates heterochromatin stability and neural progenitor proliferation.

Journal: EMBO reports

Published: November 30, 2023

Choosing Variant Interpretation Tools for Clinical Applications: Context Matters.

Choosing Variant Interpretation Tools for Clinical Applications: Context Matters.

Journal: International journal of molecular sciences

Published: June 09, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances

Published: March 10, 2023

A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.

A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.

Journal: The Journal of molecular diagnostics : JMD

Published: September 15, 2022

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Journal: Nature communications

Published: July 14, 2022

Loss of microRNA-135b Enhances Bone Metastasis in Prostate Cancer and Predicts Aggressiveness in Human Prostate Samples.

Loss of microRNA-135b Enhances Bone Metastasis in Prostate Cancer and Predicts Aggressiveness in Human Prostate Samples.

Journal: Cancers

Published: November 21, 2021

PirePred: An Accurate Online Consensus Tool to Interpret Newborn Screening-Related Genetic Variants in Structural Context.

PirePred: An Accurate Online Consensus Tool to Interpret Newborn Screening-Related Genetic Variants in Structural Context.

Journal: The Journal of molecular diagnostics : JMD

Published: September 14, 2021

Showing 1-12 of 47

Last Updated: 09/26/2026