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Clinical and Translational Bioinformatics

Our main research aims at understanding the molecular basis of hereditary disease, integrating two complementary aspects: the molecular impact of genetic variants and the regulatory role of genetic background. At a technical level, to reach our objective, we integrate the results of the most advanced genomic experiments (single-cell RNAsq, NGS sequencing, etc.) using state-of-the-art machine learning tools.

As a result of our efforts, we have recently made significant advances in understanding the functional effect of BRCA1/2 protein variants underlying hereditary breast and ovarian cancers. In fact, the methodology developed earned us the second position in the group classification at the international competition CAGI 5, held in 2019.

Team

Fco. Xavier De la Cruz Montserrat

Fco. Xavier De la Cruz Montserrat

Head of group
Clinical and Translational Bioinformatics
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Aitana Diaz Vazquez

Aitana Diaz Vazquez

Research technician
Clinical and Translational Bioinformatics
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Guerrero Flores, Javier

Guerrero Flores, Javier

Predoctoral researcher
Clinical and Translational Bioinformatics
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Natalia Padilla Sirera

Natalia Padilla Sirera

Postdoctoral researcher
Clinical and Translational Bioinformatics
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Selen Ozkan

Selen Ozkan

Predoctoral researcher
Clinical and Translational Bioinformatics
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Fco. Xavier De la Cruz Montserrat

Fco. Xavier De la Cruz Montserrat

Head of group
Clinical and Translational Bioinformatics
Read more
Aitana Diaz Vazquez

Aitana Diaz Vazquez

Research technician
Clinical and Translational Bioinformatics
Read more
Guerrero Flores, Javier

Guerrero Flores, Javier

Predoctoral researcher
Clinical and Translational Bioinformatics
Read more
Natalia Padilla Sirera

Natalia Padilla Sirera

Postdoctoral researcher
Clinical and Translational Bioinformatics
Read more
Selen Ozkan

Selen Ozkan

Predoctoral researcher
Clinical and Translational Bioinformatics
Read more

Research lines

Biomarker development

IP: -

Prediction of pathological mutations

Since a few years ago, we have been working in the development of computational tools for the prediction of pathological mutations in proteins (PMID: 11812146, 15390262, 15879453, 16208716, 17059831). In this work we have followed a two-step approach. First, we have characterized pathological mutations in terms of sequence, structure and evolutionary properties (PMID: 11812146). Second, we have used the results of this descriptive work to identify those parameters with the best predictive power. Also we have used these results to train a neural network and obtain an empirical model that allows the identification of disease-causing mutations with moderately high accuracies (around 70%; PMID: 15390262, 15879453, 16208716).

At present, we are applying this approach to the case of specific diseases. We believe that this is a natural step towards the advancement of personalized medicine. Within this context, we are characterizing the impact on the structure and function of alpha-galactosidase of Fabry disease-causing mutations. Again our approach is the same as in the general case, but here we are benefitting from the close collaboration with the group of Dr. Joan Montaner. 

IP: Fco. Xavier De la Cruz Montserrat

Projects

Avanzando hacia el diagnóstico de precisión a través de la comprensión mecanística de las patologias: de la interpretación de variantes a la identificación del perfil celular.

IP: Fco. Xavier De la Cruz Montserrat
Collaborators: Miriam Izquierdo Sans, Javier Guerrero Flores
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 111758
Reference: PREP2022-000566
Duration: 01/02/2024 - 31/01/2028

Ministerio de Ciencia

Advancing towards precision diagnostics using a mechanistic understanding of disease processes: from variant interpretation to single-cell profiling

IP: Fco. Xavier De la Cruz Montserrat
Collaborators: Natalia Padilla Sirera, Selen Ozkan
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 262500
Reference: PID2022-142753OB-I00
Duration: 01/09/2023 - 31/08/2026

Ministerio de Ciencia

Therapeutical approaches against chemoresistant cancers

IP: Matilde Lleonart Pajarin
Collaborators: Yoelsis Garcia Mayea, Fco. Xavier De la Cruz Montserrat, Juan Lorente Guerrero, Natalia Padilla Sirera, Marina Bataller Fernández, Almudena Sanchez Garcia, Selen Ozkan
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2021 SGR 01205
Duration: 01/01/2022 - 30/06/2025

Hacia una mejor aplicabilidad de la Inteligencia Artificial en Medicina Genómica: Integrando capacidad predictiva e interpretabilidad en una nueva generación de herramientas para la anotación de variantes de proteínas

IP: Fco. Xavier De la Cruz Montserrat
Collaborators: Natalia Padilla Sirera, Selen Ozkan
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 219650
Reference: TED2021-130342B-I00
Duration: 01/12/2022 - 30/09/2025

Ministerio de Ciencia

Publications

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

PMID: 40055237
Journal: HUMAN GENETICS
Year: 2025
Reference: Hum Genet. 2025 Mar 8. doi: 10.1007/s00439-025-02731-3.
Impact factor:
Publication type: Paper in international publication
Authors: Acuna-Hidalgo, Rocio; Astore, Courtney; Babbi, Giulia; Bakolitsa, Constantina; Barron, Laura T Jimenez; Berardelli, Silvia; Brenner, Steven E; Calici, Sumeyra Zeynep; Casadio, Rita; Cedillo, Luis R et al.
DOI: 10.1007/s00439-025-02731-3

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

PMID: 38798479
Journal:
Year: 2024
Reference: bioRxiv [Preprint]. 2024 May 19:2024.05.16.594558. doi: 10.1101/2024.05.16.594558.
Impact factor:
Publication type: Paper in international publication
Authors: Acuna-Hidalgo, Rocio; Astore, Courtnery; Babbi, Giulia; Bakolitsa, Constantina; Barron, Laura T Jimenez; Berardelli, Silvia; Brenner, Steven E; Calici, Sumeyra Zeynep; Casadio, Rita; Cedillo, Luis R et al.
DOI: 10.1101/2024.05.16.594558

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

PMID: 38890452
Journal: EMBO REPORTS
Year: 2024
Reference: EMBO Rep. 2024 Jun 18. doi: 10.1038/s44319-024-00178-7.
Impact factor:
Publication type: Paper in international publication
Authors: Aguirre, Samuel; de la Cruz, Xavier; Iacobucci, Simona; Jordan, Albert; Martinez-Balbas, Marian A; Nacht, A Silvina; Padilla, Natalia; Pappa, Stella; Serna-Pujol, Nuria; Vicent, Guillermo P et al.
DOI: 10.1038/s44319-024-00178-7

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

PMID: 39048855
Journal: HUMAN GENETICS
Year: 2024
Reference: Hum Genet. 2024 Jul 24. doi: 10.1007/s00439-024-02692-z.
Impact factor:
Publication type: Paper in international publication
Authors: de la Cruz, Xavier; Ozkan, Selen; Padilla, Natalia et al.
DOI: 10.1007/s00439-024-02692-z

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

PMID: 36897941
Journal: Science Advances
Year: 2023
Reference: Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10.
Impact factor:
Publication type: Paper in international publication
Authors: Afenjar, Alexandra; Akizu, Naiara; Akman, Cigdem; Andrews, Marisa; Arn, Pamela; Au, Margaret; Baldridge, Dustin; Banka, Siddharth; Bhoj, Elizabeth J; Brewer, Carole et al.
DOI: 10.1126/sciadv.ade1463

A new set of in silico tools to support the interpretation of ATM missense variants using graphical analysis.

PMID: 37865290
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2023
Reference: J Mol Diagn. 2023 Oct 19:S1525-1578(23)00243-X. doi: 10.1016/j.jmoldx.2023.09.009.
Impact factor:
Publication type: Paper in international publication
Authors: Blanco, Ana; Brandsma, D; Cruz, Xavier de la; Curigliano, G; Diez, Orland; Feliubadalo, Lidia; Furtner, J; Gutierrez-Enriquez, Sara; Hoya, Miguel de la; Lazaro, Conxi et al.
DOI: 10.1016/j.jmoldx.2023.09.009

Amivantamab plus Chemotherapy in NSCLC with EGFR Exon 20 Insertions.

PMID: 37870976
Journal: NEW ENGLAND JOURNAL OF MEDICINE
Year: 2023
Reference: N Engl J Med. 2023 Oct 21. doi: 10.1056/NEJMoa2306441.
Impact factor:
Publication type: Paper in international publication
Authors: Agrawal, Trishala; Bhattacharya, Archan; Blanco, Ana; Boyer, Michael; Cheng, Susanna; Cho, Byoung Chul; Cruz, Xavier de la; Diez, Orland; Felip, Enriqueta; Feliubadalo, Lidia et al.
DOI: 10.1056/NEJMoa2306441

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

PMID: 35143952
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2022
Reference: J Mol Diagn. 2022 Apr;24(4):406-425. doi: 10.1016/j.jmoldx.2022.01.005. Epub 2022 Feb 7.
Impact factor:
Publication type: Paper in international publication
Authors: Cruz, Xavier de la; Fernandez-Recio, Juan; Galano-Frutos, Juan Jose; Garcia-Cebollada, Helena; Lopez, Alfonso; Rosell, Mireia; Sancho, Javier et al.
DOI: 10.1016/j.jmoldx.2022.01.005

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

PMID: 35143952
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2022
Reference: J Mol Diagn. 2022 Apr;24(4):406-425. doi: 10.1016/j.jmoldx.2022.01.005. Epub 2022 Feb 7.
Impact factor: 5.568
Publication type: Paper in international publication
Authors: Galano-Frutos, Juan Jose; Garcia-Cebollada, Helena; Lopez, Alfonso; Rosell, Mireia; Cruz, Xavier de la; Fernandez-Recio, Juan; Sancho, Javier et al.
DOI: 10.1016/j.jmoldx.2022.01.005

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

PMID: 34944822
Journal: Cancers
Year: 2021
Reference: Cancers (Basel). 2021 Dec 9;13(24). pii: cancers13246202. doi: 10.3390/cancers13246202.
Impact factor:
Publication type: Paper in international publication
Authors: de la Cruz, Xavier; de Torres, Ines; Garcia, Marta; Gomis, Roger R; Gros, Laura; Guiu, Marc; Mendez, Olga; Morote, Juan; Olivan, Mireia; Planas, Jacques et al.
DOI: 10.3390/cancers13246202

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

PMID: 34653234
Journal: PLoS One
Year: 2021
Reference: PLoS One. 2021 Oct 15;16(10):e0258766. doi: 10.1371/journal.pone.0258766. eCollection 2021.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera, Cinthia; Baena, Neus; Brun-Gasca, Carme; Capdevila, Nuria; de la Cruz, Xavier; Delgadillo, Veronica; Derdak, Sophia; Dominguez-Carral, Jana; Gabau, Elisabeth; Guitart, Miriam et al.
DOI: 10.1371/journal.pone.0258766

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.

PMID: 34207612
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2021
Reference: Int J Mol Sci. 2021 Jun 9;22(12). pii: ijms22126226. doi: 10.3390/ijms22126226.
Impact factor:
Publication type: Paper in international publication
Authors: de la Cruz, Xavier; Ozkan, Selen; Padilla, Natalia et al.
DOI: 10.3390/ijms22126226

PHF8 histone demethylase regulates astrocyte differentiation and function.

PMID: 34081130
Journal: DEVELOPMENT
Year: 2021
Reference: Development. 2021 Jun 15;148(12). pii: 268981. doi: 10.1242/dev.194951. Epub 2021 Jun 28.
Impact factor:
Publication type: Paper in international publication
Authors: Cruz, Xavier de la; Gabrielli, Martina; Iacobucci, Simona; Lombardi, Marta; Martinez-Balbas, Marian A; Navarro, Claudia; Padilla, Natalia; Verderio, Claudia; Vicioso-Mantis, Marta et al.
DOI: 10.1242/dev.194951

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

PMID: 33268356
Journal: Science Advances
Year: 2020
Reference: Sci Adv. 2020 Dec 2;6(49). pii: 6/49/eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec.
Impact factor:
Publication type: Paper in international publication
Authors: Afenjar, Alexandra; Barresi, Sabina; Bend, Renee; Besnard, Thomas; Bezieau, Stephane; Bhoj, Elizabeth J; Brimble, Elise; Brokamp, Elly; Brusco, Alfredo; Bryant, Laura et al.
DOI: 10.1126/sciadv.abc9207

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

PMID: 32076423
Journal: Frontiers in Immunology
Year: 2020
Reference: Front Immunol. 2020 Jan 31;11:107. doi: 10.3389/fimmu.2020.00107. eCollection 2020.
Impact factor:
Publication type: Paper in international publication
Authors: Batlle-Maso, Laura; Casals, Ferran; Colobran, Roger; de la Cruz, Xavier; Martinez-Gallo, Monica; Padilla, Natalia; Riviere, Jacques G; Vinas-Gimenez, Laura et al.
DOI: 10.3389/fimmu.2020.00107

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.

PMID: 31865540
Journal: INTERNATIONAL JOURNAL OF HEMATOLOGY
Year: 2020
Reference: Int J Hematol. 2020 Mar;111(3):440-450. doi: 10.1007/s12185-019-02796-7. Epub 2019 Dec 21.
Impact factor:
Publication type: Paper in international publication
Authors: Alsina, Laia; Catala, Albert; Colobran, Roger; de la Campa, Elena Alvarez; de la Cruz, Xavier; Donadeu, Laura; Esteve-Sole, Ana; Martinez-Gallo, Monica; Rincon, Rafael; Sayos, Joan et al.
DOI: 10.1007/s12185-019-02796-7

PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors.

PMID: 31488723
Journal: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Year: 2019
Reference: Proc Natl Acad Sci U S A. 2019 Sep 24;116(39):19464-19473. doi: 10.1073/pnas.1903188116. Epub 2019 Sep 5.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez de la Campa, Elena; de la Cruz, Xavier; Iacobucci, Simona; Marcos, Elia; Martinez-Balbas, Marian A; Navarro, Claudia; Padilla, Natalia; Pappa, Stella; Vicioso, Marta et al.
DOI: 10.1073/pnas.1903188116

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.

PMID: 31294896
Journal: HUMAN MUTATION
Year: 2019
Reference: Hum Mutat. 2019 Sep;40(9):1546-1556. doi: 10.1002/humu.23861. Epub 2019 Aug 23.
Impact factor:
Publication type: Paper in international publication
Authors: Babbi, Giulia; Bonache, Sandra; Cao, Yue; Casadio, Rita; Cline, Melissa S; de la Cruz, Xavier; Diez, Orland; Goldgar, David E; Gutierrez-Enriquez, Sara; Katsonis, Panagiotis et al.
DOI: 10.1002/humu.23861

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

PMID: 31267011
Journal: Scientific Reports
Year: 2019
Reference: Sci Rep. 2019 Jul 2;9(1):9538. doi: 10.1038/s41598-019-45916-3.
Impact factor:
Publication type: Paper in international publication
Authors: Aguirre, Josu; de la Cruz, Xavier; Marin, Oscar et al.
DOI: 10.1038/s41598-019-45916-3

BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.

PMID: 31112341
Journal: HUMAN MUTATION
Year: 2019
Reference: Hum Mutat. 2019 Sep;40(9):1593-1611. doi: 10.1002/humu.23802. Epub 2019 Jul 3.
Impact factor:
Publication type: Paper in international publication
Authors: Bonache, Sandra; de la Cruz, Xavier; Diez, Orland; Gutierrez-Enriquez, Sara; Moles-Fernandez, Alejandro; Montalban, Gemma; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Riera, Casandra et al.
DOI: 10.1002/humu.23802

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

PMID: 30041674
Journal: Orphanet Journal of Rare Diseases
Year: 2018
Reference: Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y.
Impact factor:
Publication type: Paper in international publication
Authors: Brasil, Sandra; Couce, Mari Luz; de Almeida, Isabel Tavares; de la Cruz, Xavier; Desviat, Lourdes R; Ecay, Maria Jesus; Leal, Fatima; Martin-Hernandez, Elena; Merinero, Begona; Morais, Ana et al.
DOI: 10.1186/s13023-018-0862-y

Lineage specific transcription factors and epigenetic regulators mediate TGFbeta-dependent enhancer activation.

PMID: 29438503
Journal: NUCLEIC ACIDS RESEARCH
Year: 2018
Reference: Nucleic Acids Res. 2018 Apr 20;46(7):3351-3365. doi: 10.1093/nar/gky093.
Impact factor:
Publication type: Paper in international publication
Authors: Cruz-Molina, Sara; de la Cruz, Xavier; Estaras, Conchi; Fueyo, Raquel; Iacobucci, Simona; Lois, Sergio; Martinez-Balbas, Marian A; Navarro, Claudia; Pappa, Stella; Rada-Iglesias, Alvaro et al.
DOI: 10.1093/nar/gky093

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

PMID: 28942469
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2017
Reference: J Clin Immunol. 2017 Nov;37(8):781-789. doi: 10.1007/s10875-017-0447-x. Epub 2017 Sep 23.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez de la Campa, Elena; Colobran, Roger; de la Cruz, Xavier; Franco-Jarava, Clara; Garcia-Prat, Marina; Hernandez-Gonzalez, Manuel; Martin-Nalda, Andrea; Mas-Bosch, Virginia; Morandeira-Rego, Francisco; Solanich, Xavier et al.
DOI: 10.1007/s10875-017-0447-x

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.

PMID: 28812538
Journal: BMC GENOMICS
Year: 2017
Reference: BMC Genomics. 2017 Aug 11;18(Suppl 5):569. doi: 10.1186/s12864-017-3914-0.
Impact factor:
Publication type: Paper in international publication
Authors: de la Campa, Elena Alvarez; de la Cruz, Xavier; Padilla, Natalia et al.
DOI: 10.1186/s12864-017-3914-0

Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.

PMID: 27613247
Journal: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Year: 2017
Reference: Biochim Biophys Acta. 2017 Jan;1863(1):182-187. doi: 10.1016/j.bbadis.2016.09.002. Epub 2016 Sep 7.
Impact factor:
Publication type: Paper in international publication
Authors: Aller-Alvarez, Juan Sebastian; Alvarez de la Campa, Elena; Camara, Yolanda; Carreno-Gago, Lidia; de la Cruz, Xavier; Galan, Alicia; Gamez, Josep; Garcia-Arumi, Elena; Moncho, Dulce; Pinos, Tomas et al.
DOI: 10.1016/j.bbadis.2016.09.002

Elucidating the molecular basis of msh2-deficient tumors by combined germline and somatic analysis.

PMID: 28577310
Journal: INTERNATIONAL JOURNAL OF CANCER
Year: 2017
Reference: Int J Cancer. 2017 Oct 1;141(7):1365-1380. doi: 10.1002/ijc.30820. Epub 2017 Jul 3.
Impact factor:
Publication type: Paper in international publication
Authors: Brunet, Joan; Capella, Gabriel; Damaso, Estela; de la Cruz, Xavier; Del Valle, Jesus; Feliubadalo, Lidia; Fernandez, Anna; Gomez, Carolina; Gonzalez-Acosta, Maribel; Holinki-Feder, Elke et al.
DOI: 10.1002/ijc.30820

The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions.

PMID: 27397615
Journal: HUMAN MUTATION
Year: 2016
Reference: Hum Mutat. 2016 Oct;37(10):1013-24. doi: 10.1002/humu.23048. Epub 2016 Aug 8.
Impact factor:
Publication type: Paper in international publication
Authors: de la Cruz, Xavier; Padilla, Natalia; Riera, Casandra et al.
DOI: 10.1002/humu.23048

EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21.

PMID: 27248655
Journal: Open Biology
Year: 2016
Reference: Open Biol. 2016 Apr;6(4). pii: 150227. doi: 10.1098/rsob.150227. Epub 2016 Apr 20.
Impact factor:
Publication type: Paper in international publication
Authors: Akizu, Naiara; Badosa, Carmen; de la Cruz, Xavier; Estaras, Conchi; Fueyo, Raquel; Garcia, Maria Alejandra; Martinez-Balbas, Marian A et al.
DOI: 10.1098/rsob.150227

Novel Mutations Causing C5 Deficiency in Three North-African Families.

PMID: 27026170
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2016
Reference: J Clin Immunol. 2016 May;36(4):388-96. doi: 10.1007/s10875-016-0275-4. Epub 2016 Mar 30.
Impact factor:
Publication type: Paper in international publication
Authors: Baena, Neus; Colobran, Roger; Comas, David; de la Cruz, Xavier; Franco-Jarava, Clara; Gabau, Elisabeth; Hernandez-Gonzalez, Manuel; Martin-Nalda, Andrea; Padilla, Natalia; Pujol-Borrell, Ricardo et al.
DOI: 10.1007/s10875-016-0275-4

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.

PMID: 26748374
Journal: CLINICAL IMMUNOLOGY
Year: 2016
Reference: Clin Immunol. 2016 Feb;163:60-5. doi: 10.1016/j.clim.2015.12.014. Epub 2015 Dec 31.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez de la Campa, Elena; Colobran, Roger; de la Cruz, Xavier; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Pujol-Borrell, Ricardo; Soler-Palacin, Pere et al.
DOI: 10.1016/j.clim.2015.12.014

Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

PMID: 26554728
Journal: NAT COMMUN
Year: 2015
Reference: Nat Commun. 2015 Nov 10;6:8839. doi: 10.1038/ncomms9839.
Impact factor:
Publication type: Paper in international publication
Authors: Arias, Alexandra; Berger, Michael F; Cajal, Santiago Ramon Y; Carles, Joan; Cortes, Javier; de la Cruz, Xavier; De Mattos-Arruda, Leticia; Felip, Enriqueta; Gonzalez-Cao, Maria; Guerini-Rocco, Elena et al.
DOI: 10.1038/ncomms9839

Molecular dynamics study of naturally existing cavity couplings in proteins.

PMID: 25816327
Journal: PLOS ONE
Year: 2015
Reference: PLoS One. 2015 Mar 27;10(3):e0119978. doi: 10.1371/journal.pone.0119978. eCollection 2015.
Impact factor:
Publication type: Paper in international publication
Authors: Barbany, Montserrat; D'Abramo, Marco; de la Cruz, Xavier; Faustino, Ignacio; Hospital, Adam; Meyer, Tim; Morata, Jordi; Orozco, Modesto et al.
DOI: 10.1371/journal.pone.0119978

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

PMID: 26029709
Journal: MOL GENET GENOMICS
Year: 2015
Reference: Mol Genet Genomic Med. 2015 May;3(3):221-32. doi: 10.1002/mgg3.136. Epub 2015 Mar 6.
Impact factor:
Publication type: Paper in international publication
Authors: ; Barque, Anna; Bruguera, Miquel; de la Cruz, Xavier; Gervasini, Guillermo; Joshi, Ricky; Lois, Sergi; Moran, Erica; Sanchez, Mayka; Sanz, Cristina et al.
DOI: 10.1002/mgg3.136

Molecular damage in Fabry disease: Characterization and prediction of alpha-galactosidase A pathological mutations.

PMID: 25382311
Journal: PROTEINS
Year: 2015
Reference: Proteins. 2015 Jan;83(1):91-104. doi: 10.1002/prot.24708. Epub 2014 Nov 18.
Impact factor:
Publication type: Paper in international publication
Authors: de la Cruz, Xavier; Dominguez, Carmen; Fernandez-Cadenas, Israel; Lois, Sergio; Montaner, Joan; Riera, Casandra; Rodriguez-Sureda, Victor et al.
DOI: 10.1002/prot.24708

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.

PMID: 24412907
Journal: CLINICAL IMMUNOLOGY
Year: 2014
Reference: Clin Immunol. 2014 Feb;150(2):143-8. doi: 10.1016/j.clim.2013.11.013. Epub 2013 Dec 4.
Impact factor:
Publication type: Paper in international publication
Authors: Colobran, Roger; de la Cruz, Xavier; Guilarte, Mar; Hernandez-Gonzalez, Manuel; Lois, Sergio; Pujol-Borrell, Ricardo et al.
DOI: 10.1016/j.clim.2013.11.013

The relationship between gene isoform multiplicity, number of exons and protein divergence.

PMID: 24023641
Journal: PLoS One
Year: 2013
Reference: PLoS One. 2013 Aug 30;8(8):e72742. doi: 10.1371/journal.pone.0072742.
Impact factor:
Publication type: Paper in international publication
Authors: Bejar, Santi; de la Cruz, Xavier; de Xaxars, Gemma Mas; Lois, Sergio; Morata, Jordi; Riera, Casandra; Talavera, David et al.
DOI: 10.1371/journal.pone.0072742

Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles

PMID: 90000006
Journal: Wiley Interdisciplinary Reviews-Computational Molecular Science
Year: 2013
Reference: WIREs 27 AUG 2013
Impact factor:
Publication type: Review in international publication
Authors: de la Cruz, Xavier; Lois, Sergio; Riera, Casandra et al.
DOI: 10.1002/WCMS.1170

Characterization of the impact of alternative splicing on protein dynamics: The cases of glutathione S-transferase and ectodysplasin-A isoforms.

PMID: 22576332
Journal: PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
Year: 2012
Reference: Proteins. 2012 Aug;80(9):2235-49. doi: 10.1002/prot.24112. Epub 2012 Jun 18.
Impact factor:
Publication type: Paper in international publication
Authors: Barbany, Montserrat; de la Cruz, Xavier; Lois, Sergi; Meyer, Tim; Morata, Jordi; Orozco, Modesto et al.
DOI: 10.1002/prot.24112

Thesis

Desarrollo de herramientas para el análisis y predicción patogénica de las variantes missense de ATM en el entorno clínico.

PhD student: Luz Marina Porras Monroy
Director/s: Fco. Xavier De la Cruz Montserrat
University: Universitat de Barcelona
Year: 2023

Binary pathogenicity classification missense variants through development of quantitative protein-specific predictors

PhD student: Selen Ozkan
Director/s: Fco. Xavier De la Cruz Montserrat
University: Universitat de Barcelona
Year: 2023

Novel approaches for in silico identification of pathogenic variants in BRCA1 and BRCA2 hereditary breast and ovarian cancer predisposition genes

PhD student: Natalia Padilla Sirera, Natalia Padilla Sirera
Director/s: Fco. Xavier De la Cruz Montserrat
University: Universidad Autònoma de Barcelona
Year: 2020

A MACHINE LEARNING MODEL FOR IMPROVING THE ANNOTATION OF PROTEIN SEQUENCE VARIANTS IN SEQUENCING PROJECTS

PhD student: Elena Álvarez de la C Crespo
Director/s: Fco. Xavier De la Cruz Montserrat
University: Universitat de Barcelona
Year: 2019

ESTUDIO DE LAS PROPIEDADES CONFORMACIONALES DE LAS PROTEÍNAS MEDIANTE EL USO DE MODELOS DE BAJA RESOLUCIÓN BASADOS EN LA DISCRETIZACIÓN DE LAS COORDENADAS INTERNAS

PhD student: Francisco Martín Bandera
Director/s: Fco. Xavier De la Cruz Montserrat
University: Universitat de Barcelona
Year: 2018

Caracterització bioinformàtica de la relació entre l'impacte molecular de les variants patogèniques i el fenotip clínic

PhD student: Oscar Marín Sala
Director/s: Fco. Xavier De la Cruz Montserrat
University: Universidad Autònoma de Barcelona
Year: 2017

Novel approaches in the identification of pathogenic variants in the clinical diagnosis

PhD student: Maria Casandra Riera Ribas
Director/s: Fco. Xavier De la Cruz Montserrat
University: Universidad Autònoma de Barcelona
Year: 2016

Blog

News

The Clinical and Translational Bioinformatics Group at VHIR has been responsible for the computational analysis of two international genetic studies led by the Children's Hospital of Philadelphia.

The Clinical and Translational Bioinformatics group is launching the project to use cutting-edge artificial intelligence in the identification of pathogenic variants.