Selected Publications

Only first author, corresponding and significant papers. See a complete list here

1. Núñez-Moreno G, Tamayo A, Ruiz-Sánchez C, Cortón M, Mínguez P. VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing. Hum Genet. 2023 Mar 7. doi: 10.1007/s00439-023-02539-z. [PubMed] [Human Genetics]

2. de la Fuente L, Del Pozo-Valero M, Perea-Romero I, Blanco-Kelly F, Fernández-Caballero L, Cortón M, Ayuso C, Mínguez P. Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International Journal of Molecular Sciences. 2023; 24(2):1661. [PubMed] [IJMS]

3. Iancu IF, Perea-Romero I, Núñez-Moreno G, de la Fuente L, Romero R, Ávila-Fernandez A, Trujillo-Tiebas MJ, Riveiro-Álvarez R, Almoguera B, Martín-Mérida I, Del Pozo-Valero M, Damián-Verde A, Cortón M, Ayuso C#, Minguez P#. Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies. Int J Mol Sci. 2022 Jul 29;23(15). [PubMed] [IJMS]

4. Romero R, de la Fuente L, Del Pozo-Valero M, Riveiro-Álvarez R, Trujillo-Tiebas MJ, Martín-Mérida I, Ávila-Fernández I, Iancu IF, Perea-Romero I, Núñez-Moreno G, Damián A, Rodilla C, Almoguera B, Cortón M, Ayuso C# & Minguez P#. An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases. npj Genom. Med. 2022. 7, 7. [PubMed] [NPJ Genomic Medicine]

5. Vellosillo P, Minguez P#. A global map of associations between types of protein posttranslational modifications and human genetic diseases. iScience. 2021 Aug 20;24(8):102917. [PubMed] [iScience]

6. Iancu IF, Avila-Fernandez A, Arteche A,Trujillo-Tiebas MJ, Riveiro-Alvarez R, Almoguera B, Martin-Merida I, Del Pozo-Valero M, Perea-Romero I, Corton M, Minguez P#, Ayuso C#. Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies. npj Genomic Medicine. 2021; 6(1):18.

7. Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B; Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á, Dopazo J. CSVS, a crowdsourcing database of the Spanish population genetic variability. 2021; Nucleic Acids Res.; gkaa794.

8. Sarah Heili-Frades#, Pablo Minguez#, Ignacio Mahillo Fernández, Tomás Prieto-Rumeau, Antonio Herrero González, Lorena de la Fuente, María Jesús Rodríguez Nieto, Germán Peces-Barba Romero, Mario Peces-Barba, María del Pilar Carballosa de Miguel, Itziar Fernández Ormaechea, Alba Naya prieto, Farah Ezzine de Blas, Luis Jiménez Hiscock, Cesar Perez Calvo, Arnoldo Santos, Luis Enrique Muñoz Alameda, Fredeswinda Romero Bueno, Miguel Górgolas Hernández-Mora, Alfonso Cabello Úbeda, Beatriz Álvarez Álvarez, Elizabet Petkova, Nerea Carrasco, Dolores Martín Ríos, Nicolás González Mangado, Olga Sánchez Pernaute, and the COVID FJD-TEAM. COVID-19 Outcomes in 4712 consecutively confirmed SARS-CoV2 cases in the city of Madrid. medRxiv. 2020. 2020.05.22.20109850. [MedRxiv]

9. Del Puerto-Nevado L*#, Minguez P*#, Garcia-Foncillas J. Bioinformática, inteligencia artificial y sistemas cognitivos en medicina. Colección de Bioética y Derecho Sanitario Fundación Merck. 2020; Monografía 25. [Get pdf]

10. Heili-Frades S#, Minguez P#, Mahillo-Fernández I , Jiménez Hiscock L, Santos A, Heili-Frades D, Carballosa de Miguel MP, Fernández Ormaechea I, Álvarez Suárez L, Naya prieto A, González Mangado N, Peces-Barba Romero G. Patient Management Assisted By A Neural Network Reduces Mortatlity In An Intermediate Care Unit. Archivos de Bronconeumologia. 2019; pii: S0300-2896(19)30594-0 [PubMed] [Arch Bronconeumol.]

11. Del Puerto-Nevado L, Santiago-Hernandez A, Solanes-Casado S, Gonzalez N, Ricote M, Corton M, Prieto I, Mas S, Sanz AB, Aguilera O, Gomez-Guerrero C, Ayuso C, Ortiz A, Rojo F, Egido J, Garcia-Foncillas J, Minguez P#, Alvarez-Llamas G#. Diabetes-mediated promotion of colon mucosa carcinogenesis is associated with mitochondrial dysfunction. Mol Oncol. 2019; doi: 10.1002/1878-0261.12531. [Pubmed] [Mol Onco]

12. Del Puerto-Nevado L*, Minguez P*#, Corton M, Solanes-Casado S, Prieto I, Mas S, Sanz AB, Gonzalez-Alonso P, Villaverde C, Portal-Nuñez S, Aguilera O, Gomez-Guerrero C, Esbrit P, Vivanco F, Gonzalez N, Ayuso C, Ortiz A, Rojo F, Egido J, Alvarez-Llamas G#, Garcia-Foncillas J on behalf of the DiabetesCancerConnect Consortium. Molecular evidence of field cancerization initiated by diabetes in colon cancer patients. Molecular Oncology. 2019; 13(4):857-872 [PubMed] [Mol Onco]

13. Minguez P#, Bork P. Bioinformatics Analysis of Functional Associations of PTMs. Methods in molecular biology (Clifton, N.J.). 2017; 1558:303-320. [PubMed]

14. Yu-Wei S, Minguez P, Bork P, Auburger JJ, Guilbride DL, Kramer G and Bukau B. "Operon structure and cotranslational subunit association direct protein assembly in bacteria" Science. 2015; DOI: 10.1126/science.aac8171   [Pubmed]  [Science]

15. Minguez P, Ivica L, Parca L, Garcia-Alonso L, Dopazo J, Huerta-Cepas J, Bork P. "PTMcode v2: a resource for functional associations of post-translational modifications within and between proteins" Nucl. Acids Res.2014; 1 doi: 10.1093/nar/gku1081   [Pubmed]  [NAR]  [pdf]

16. Minguez P*, Ivica L*, Parca L, Bork P. "PTMcode: a database of known and predicted functional associations between post-translational modifications in proteins." Nucl. Acids Res. 2013;41(Database issue):D306-11   [Pubmed]  [NAR]  [pdf]

17. Franceschini A, Szklarczyk D, Frankild S, Kuhn M, Simonovic M, Roth A, Lin J, Minguez P, Bork P, von Mering C, Jensen LJ. STRING v9.1: protein-protein interaction networks, with increased coverage and integration. Nucleic acids research. 2013; 41(Database issue):D808-15 [PubMed]

18. Minguez P, Parca L, Diella F, Mende DR, Kumar R, Helmer-Citterich M, Gavin AC, van Noort V, Bork P. "Deciphering a global network of functionally associated post-translational modifications" Molecular Systems Biology.2012; 8:599.   [Pubmed]  [MSB]  [pdf]  [Supplementary material]

19. Minguez P, Dopazo J. "Assessing the biological significance of gene expression signatures and co-expression modules by studying their network properties" PLoS One. 2011; 6(3): e17474.  [Pubmed]  [PLoSOne]  [pdf]

20. Szklarczyk D, Franceschini A, Kuhn M, Simonovic M, Roth A, Minguez P, Doerks T, Stark M, Muller J, Bork P, Jensen LJ, von Mering C. The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored. Nucleic acids research. 2011; 39(Database issue):D561-8 [PubMed]

21. Minguez P, Dopazo J. "Functional genomics and networks: new approaches in the extraction of complex gene modules." Expert Rev Proteomics. 2010;7(1):55-63.   [PubMed]  [pdf]

22. Minguez P, Gotz S, Montaner D, Al-Shahrour F, Dopazo J. "SNOW, a web-based tool for the statistical analysis of protein-protein interaction networks." Nucl. Acids Res. 2009;37:W109-114.   [PubMed]  [pdf]

23. Minguez P, Dopazo J. "Protein Interactions for Functional Genomics." In: Li X-L, Ng S-K, eds. Biological Data Mining in Protein Interaction Networks. Hershey, USA: Idea Group Inc (IGI); 2009.   [Google Books]  [pdf]

24. Minguez P, Al-Shahrour F, Montaner D, Dopazo J. "Functional profiling of microarray experiments using text-mining derived bioentities." Bioinformatics. 2007;23:3098-9.   [PubMed]  [pdf]

25. Minguez P, Al-Shahrour F, Dopazo J. "A function-centric approach to the biological interpretation of microarray time-series." Genome Inform. 2006;17:57-66   [PubMed]  [pdf]  [Sup mat.]