Our work is supported by numerous publications in international scientific journals of high impact index.
Advances of Genomic Medicine in Psoriatic Arthritis. Laborde, C. et al. J Pers Med.
- Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma. Riobello, C. et al. Cancers.
Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia. Jiménez, I. et al. Biomark Res.
- Next-generation sequencing for identification of actionable gene mutations in intestinal-type sinonasal adenocarcinoma. Sánchez-Fernández, P. et al. Sci Rep.
- Contribution of Multiplex Immunoassays to Rheumatoid Arthritis Management: From Biomarker Discovery to Personalized Medicine. Laborde, CM. et al. J Pers Med.
- Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes. Nadeu, F. et al. Blood.
- Biological and clinical significance of dysplastic hematopoiesis in patients with newly diagnosed multiple myeloma. Maia, C. et al. Blood.
- Comprehensive Genomic Diagnosis of Inherited Retinal and Optical Nerve Disorders Reveals Hidden Syndromes and Personalized Therapeutic Options. Diñeiro, M. et al. Acta Ophthalmo.
- Circulating tumor cells for comprehensive and multiregional non-invasive genetic characterization of multiple myeloma. Garcés, J.J. et al. Leukemia.
- Clinical Validation of a NGS Capture Panel to Identify Mutations, Copy Number Variations and Translocations in Patients with Multiple Myeloma. Cuenca, I. et al. Blood.
- Intratumoral nanoplexed poly I:C BO-112 in combination with systemic anti-PD-1 for patients with anti-PD-1-refractory tumors. Márquez-Rodas, I. et al. Sci Transl Med.
- The MNT transcription factor autoregulates its expression and supports proliferation in MYC-associated factor X (MAX)-deficient cells. Lafita-Navarro, C. et al. J Biol Chem.
- IDH2 Mutation Analysis in Undifferentiated and Poorly Differentiated Sinonasal Carcinomas for Diagnosis and Clinical Management. Riobello, C. et al. Am J Surg Pathol.
- Characterization of Left Ventricular Non-Compaction Cardiomyopathy. Lorca, R. et al. J Clin Med.
- Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome. Lorca, R. et al. J Clin Med.
- Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene. Diñeiro, M. et al. Eur J Hum Genet.
- Healthspan and lifespan extension by fecal microbiota transplantation into progeroid mice. Bárcena, C. et al. Nature Medicine.
- Natural history and cell-of-origin of TCF3- ZNF384 and PTPN11 mutations in monozygotic twins with concordant BCP-ALL. Bueno, C. et al. Blood.
- Computational de-orphanization of the olive oil biophenol oleacein: Discovery of new metabolic and epigenetic targets. Cuyás, E. et al. Food and Chem Toxicol.
- New Chondrosarcoma Cell Lines with Preserved Stem Cell Properties to Study the Genomic Drift During In Vitro/In Vivo Growth. Rey, V. et al. Journal of Clinical Medicine.
- CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1− mantle cell lymphoma. Martín-García, D. et al. Blood.
- Enhanced hemato-endothelial specification during humanembryonic differentiation through developmental cooperation between AF4-MLL and MLL-AF4 fusions. Bueno, C. et al. Haematologica.
- Vitamin D differentially regulates colon stem cells in patient-derived normal and tumor organoids. Fernández-Barral, A. et al. FEBS J.
- Comprenhensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. Cabanillas, R. et al. BCM Medical Genomics.
- Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets. Karube, K. et al. Leukemia.
- Design of a NGS Platform for the Integrated Analysis of Genetic Mutations, Copy Number Alteration and Somatic Hypermutation of IGHV in CLL Alcobeda, M. et al. Blood.
- Lysogenization of Staphylococcus aureus RN450 by phages ϕ11 and ϕ80α leads to the activation of the SigB regulon. Fernández, L. et al. Sci Rep.
- SDHC Promoter Methylation, a Novel Pathogenic Mechanism in arasympathetic Paragangliomas. Bernardo-Castiñeira, C. et al. J Clin Endocrinol Metab.
- From Waldenström’s macroglobulinemia to aggressive diffuse large B-cell lymphoma: a whole-exome analysis of abnormalities leading to transformation. Jiménez, C. et al. Blood Cancer J.
- A novel molecular diagnostics platform for somatic and germline precision oncology. Cabanillas, R. et al. Mol Genet Genomic Med.
- A Next-Generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma. Jiménez, C. et al. J Mol Diagn.
- Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes. Bastida, J.M. et al. Thromb Haemost.
- Gene coding for an elongation factor is involved in resistance against powdery mildew in common bean. Campa, A. et al. Theor Appl Genet.
- Low-level predation by lytic phage phiIPLA-RODI promotes biofilm formation and triggers the stringent response in Staphylococcus aureus. Fernández, L. et al. Sci Rep.
- Downregulation of Autolysin-Encoding Genes by Phage-Derived Lytic Proteins Inhibits Biofilm Formation in Staphylococcus aureus. Fernández, L. et al. Antimicrob Agents Chemother.
- Loss of the proteostasis factor AIRAPL causes myeloid transformation by eregulating IGF-1 signaling. G Osorio, F. et al. Nat Med.
- Whole-Exome Sequencing of Waldenström Macroglobulinemia Transformation into Aggressive Lymphoma. Alonso, S. et al. Blood.
- POT1 loss-of-function variants predispose to familial melanoma. Robles-Espinosa. et al. Nat Genet.
- Identification of novel tumor suppressor proteases by degradome profiling of colorectal carninomas. Fraile. et al. Oncotarget.
- POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Ramsay. et al. Nat Genet.
- Estimation of copy number alterations from exome sequencing data. Valdés-Más. et al. PLoS One.
- Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Quesada. et al. Nat Genet.
- Whole-genome sequencing identifies recurrent mutations in chronic lymphocituc leukaemia. Puente. et al. Nature.
- Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Puente. et al. Am J Hum Genet.