In 2021, we have advanced in the computational analysis of protein sequence variants and their relationship to disease, focusing on the translational aspect of our research. This has led us to actively collaborate with medical/clinical groups involved in molecular diagnosis, particularly in the case of hereditary cancers. This work has crystallized in a novel technology for estimating the impact of genetic variants in protein function (zkan et al., 2021). In parallel, we have participated in the community effort to define the guidelines for scoring ATM Variants in Hereditary Cancer Patients (Feliubadal et al., 2021). Finally, mention that we are also devoting an important part of our efforts to the fundamental study of epigenetic processes to understand how they shape clinical phenotype (Iacobucci et al., 2021).

Group Leader
Fco. Xavier De la Cruz Montserrat

PhD Students
Selen Özkan, Luz Marina Porras

Lab Technicians
Natàlia Padilla

5

PUBLICATIONS

31

IMPACT FACTOR

6.20

AVERAGE IMPACT FACTOR

SELECTED ARTICLES

Feliubadalo L, Moles-Fernandez A, Santamarina-Pena M, Sanchez AT, Lopez-Novo A, Porras LM, Blanco A, Capella G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutierrez-Enriquez S, Vega A, Lazaro C
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Clin Chem., 2021, 67:518-533
DOI: doi: 10.1093/clinchem/hvaa250.
IF: 8.327

Iacobucci S, Padilla N, Gabrielli M, Navarro C, Lombardi M, Vicioso-Mantis M, Verderio C, Cruz X, Martinez-Balbas MA
PHF8 histone demethylase regulates astrocyte differentiation and function.
Development. 2021 Jun 15;148(12). pii: 268981.
DOI: doi: 10.1242/dev.194951. Epub 2021 Jun 28.
IF: 6.868

Ozkan S, Padilla N, de la Cruz X
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Int J Mol Sci. 2021 Jun 9;22(12). pii: ijms22126226.
DOI: doi: 10.3390/ijms22126226.
IF: 5.924

Aguilera C, Gabau E, Ramirez-Mallafre A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
PLoS One. 2021 Oct 15;16(10):e0258766.
DOI: doi: 10.1371/journal.pone.0258766
IF: 3.24

Olivan M, Garcia M, Suarez L, Guiu M, Gros L, Mendez O, Rigau M, Reventos J, Segura MF, de Torres I, Planas J, de la Cruz X, Gomis RR, Morote J, Rodriguez-Barrueco R, Santamaria A
Loss of microRNA-135b Enhances Bone Metastasis in Prostate Cancer and Predicts Aggressiveness in Human Prostate Samples.
Cancers (Basel). 2021 Dec 9;13(24). pii: cancers13246202
DOI: doi: 10.3390/cancers13246202.
IF: 6.639

Una aproximación traslacional a la interpretación de variantes de secuencia en proteínas: integrando impacto molecular, regulación por el entorno genético y coste clínico
Principal Investigator: Xavier de la Cruz
Agency: Ministerio de Ciencia e Innovación
Funding: 133,100€
Period: 2020-2023

Network for the interpretation of neonatal screening: from the mutation to the patient
Principal Investigator: Javier Sancho
Agency: European Union
Funding: 827,008€
Period: 2016-2021

Neurosciences

Research Areas