Manuscritos
Conoce las publicaciones en las que hemos participado
2022
Nadeu F, Royo R, Massoni-Badosa R, Playa-Albinyana H, Garcia-Torre B, Duran-Ferrer M, Dawson KJ, Kulis M, Diaz-Navarro A, Villamor N, Melero JL, Chapaprieta V, Dueso-Barroso A, Delgado J, Moia R, Ruiz-Gil S, Marchese D, Giró A, Verdaguer-Dot N, Romo M, Clot G, Rozman M, Frigola G, Rivas-Delgado A, Baumann T, Alcoceba M, González M, Climent F, Abrisqueta P, Castellví J, Bosch F, Aymerich M, Enjuanes A, Ruiz-Gaspà S, López-Guillermo A, Jares P, Beà S, Capella-Gutierrez S, Gelpí JL, López-Bigas N, Torrents D, Campbell PJ, Gut I, Rossi D, Gaidano G, Puente XS, Garcia-Roves PM, Colomer D, Heyn H, Maura F, Martín-Subero JI, Campo E. Detection of early seeding of Richter transformation in chronic lymphocytic leukemia. Nat Med. 2022 Aug;28(8):1662-1671.
Royo R, Magnano L, Delgado J, Ruiz-Gil S, Gelpí JL, Heyn H, Taylor MA, Stankovic T, Puente XS, Nadeu F, Campo E. ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution. Blood Cancer J. 2022 Jun 7;12(6):90.
Bousquets-Muñoz P, Díaz-Navarro A, Nadeu F, Sánchez-Pitiot A, López-Tamargo S, Shuai S, Balbín M, Tubio JMC, Beà S, Martin-Subero JI, Gutiérrez-Fernández A, Stein LD, Campo E, Puente XS. PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2. NPJ Genom Med. 2022 Mar 14;7(1):19.
Menendez M, Cabal VN, Vivanco B, Suarez-Fernandez L, Lopez F, Llorente JL, Hermsen MA, Alvarez-Marcos C. Loss of p16 expression is a risk factor for recurrence in sinonasal inverted papilloma. Rhinology. 2022 Dec 1;60(6):453-461.
Laborde CM, Larzabal L, González-Cantero Á, Castro-Santos P, Díaz-Peña R. Advances of Genomic Medicine in Psoriatic Arthritis. J Pers Med. 2022 Jan 3;12(1):35. doi: 10.3390/jpm12010035.
2021
Riobello C, Sánchez-Fernández P, Cabal VN, García-Marín R, Suárez-Fernández L, Vivanco B, Blanco-Lorenzo V, Álvarez Marcos C, López F, Llorente JL, Hermsen MA. Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma. Cancers (Basel). 2021 Oct 7;13(19):5022.
Jiménez I, Tazón-Vega B, Abrisqueta P, Nieto JC, Bobillo S, Palacio-García C, Carabia J, Valdés-Mas R, Munuera M, Puigdefàbregas L, Parra G, Esteve-Codina A, Franco-Jarava C, Iacoboni G, Terol MJ, García-Marco JA, Crespo M, Bosch F. Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia. Biomark Res. 2021 May 20;9(1):37.
Simoes C, Paiva B, Martínez-Cuadrón D, Bergua JM, Vives S, Algarra L, Tormo M, Martinez P, Serrano J, Herrera P, Ramos F, Salamero O, Lavilla E, Gil C, Lopez JL, Vidriales MB, Labrador J, Falantes JF, Sayas MJ, Ayala R, Martinez-Lopez J, Villar S, Calasanz MJ, Prosper F, San-Miguel JF, Sanz MÁ, Montesinos P. Measurable residual disease in elderly acute myeloid leukemia: results from the PETHEMA-FLUGAZA phase 3 clinical trial. Blood Adv. 2021 Feb 9;5(3):760-770.
Sánchez-Fernández P, Riobello C, Costales M, Vivanco B, Cabal VN, García-Marín R, Suárez-Fernández L, López F, Cabanillas R, Hermsen MA, Llorente JL. Next-generation sequencing for identification of actionable gene mutations in intestinal-type sinonasal adenocarcinoma. Sci Rep. 2021 Jan 26;11(1):2247.
2020
Laborde CM, Castro-Santos P, Díaz-Peña R. Contribution of Multiplex Immunoassays to Rheumatoid Arthritis Management: From Biomarker Discovery to Personalized Medicine. J Pers Med. 2020 Oct 30;10(4):202.
Nadeu F, Martin-Garcia D, Clot G, Díaz-Navarro A, Duran-Ferrer M, Navarro A, Vilarrasa-Blasi R, Kulis M, Royo R, Gutiérrez-Abril J, Valdés-Mas R, López C, Chapaprieta V, Puiggros M, Castellano G, Costa D, Aymerich M, Jares P, Espinet B, Muntañola A, Ribera-Cortada I, Siebert R, Colomer D, Torrents D, Gine E, López-Guillermo A, Küppers R, Martin-Subero JI, Puente XS, Beà S, Campo E. Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes. Blood. 2020 Sep 17;136(12):1419-1432.
Maia C, Puig N, Cedena MT, Goicoechea I, Valdes-Mas R, Vazquez I, Chillon MC, Aguirre P, Sarvide S, Gracia-Aznárez FJ, Alkorta G, Calasanz MJ, Garcia-Sanz R, Gonzalez M, Gutierrez NC, Martinez-Lopez J, Perez JJ, Merino J, Moreno C, Burgos L, Alignani D, Botta C, Prosper F, Matarraz S, Orfao A, Oriol A, Teruel AI, de Paz R, de Arriba F, Hernandez MT, Palomera L, Martinez R, Rosiñol L, Mateos MV, Lahuerta JJ, Blade J, San Miguel JF, Paiva B. Biological and clinical significance of dysplastic hematopoiesis in patients with newly diagnosed multiple myeloma. Blood. 2020 Jun 25;135(26):2375-2387.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J. Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options. Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048.
Garcés JJ, Bretones G, Burgos L, Valdes-Mas R, Puig N, Cedena MT, Alignani D, Rodriguez I, Puente DÁ, Álvarez MG, Goicoechea I, Rodriguez S, Calasanz MJ, Agirre X, Flores-Montero J, Sanoja-Flores L, Rodriguez-Otero P, Rios R, Martinez-Lopez J, Millacoy P, Palomera L, Del Orbe R, Pérez-Montaña A, El Omri H, Prosper F, Mateos MV, Rosiñol L, Blade J, Lahuerta JJ, Orfao A, Lopez-Otin C, San Miguel JF, Paiva B; Circulating tumor cells for comprehensive and multiregional non-invasive genetic characterization of multiple myeloma. Leukemia. 2020 Nov;34(11):3007-3018.
Cuenca, I. et al. Clinical Validation of a NGS Capture Panel to Identify Mutations, Copy Number Variations and Translocations in Patients with Multiple Myeloma. Blood (2020) 136 (Supplement 1): 13–14.
Márquez-Rodas I, Longo F, Rodriguez-Ruiz ME, Calles A, Ponce S, Jove M, Rubio-Viqueira B, Perez-Gracia JL, Gómez-Rueda A, López-Tarruella S, Ponz-Sarvise M, Álvarez R, Soria-Rivas A, de Miguel E, Ramos-Medina R, Castañon E, Gajate P, Sempere-Ortega C, Jiménez-Aguilar E, Aznar MA, Calvo A, Lopez-Casas PP, Martín-Algarra S, Martín M, Tersago D, Quintero M, Melero I. Intratumoral nanoplexed poly I:C BO-112 in combination with systemic anti-PD-1 for patients with anti-PD-1-refractory tumors. Sci Transl Med. 2020 Oct 14;12(565):eabb0391.
Lafita-Navarro MC, Liaño-Pons J, Quintanilla A, Varela I, Blanco R, Ourique F, Bretones G, Aresti J, Molina E, Carroll P, Hurlin P, Romero OA, Sanchez-Céspedes M, Eisenman RN, Delgado MD, León J. The MNT transcription factor autoregulates its expression and supports proliferation in MYC-associated factor X (MAX)-deficient cells. J Biol Chem. 2020 Feb 14;295(7):2001-2017.
Riobello C, López-Hernández A, Cabal VN, García-Marín R, Suárez-Fernández L, Sánchez-Fernández P, Vivanco B, Blanco V, López F, Franchi A, Llorente JL, Hermsen MA. IDH2 Mutation Analysis in Undifferentiated and Poorly Differentiated Sinonasal Carcinomas for Diagnosis and Clinical Management. Am J Surg Pathol. 2020 Mar;44(3):396-405.
Lorca R, Martín M, Pascual I, Astudillo A, Díaz Molina B, Cigarrán H, Cuesta-Llavona E, Avanzas P, Rodríguez Reguero JJ, Coto E, Morís C, Gómez J. Characterization of Left Ventricular Non-Compaction Cardiomyopathy. J Clin Med. 2020 Aug 5;9(8):2524.
Lorca R, Junco-Vicente A, Martin-Fernandez M, Pascual I, Aparicio A, Barja N, Cuesta-LLavona E, Roces L, Avanzas P, Moris C, Coto E, Rodríguez Reguero JJ, Gómez J. Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome. J Clin Med. 2020 Nov 26;9(12):3846.
Diñeiro M, Cifuentes GA, Capín R, Santiago A, Otero A, Castillo D, Pruneda PC, Ordóñez GR, Cabanillas R, Cadiñanos J. Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene. Eur J Hum Genet. 2020 Apr;28(4):401-402.
Bueno C, Ballerini P, Varela I, Menendez P, Bashford-Rogers R. Shared D-J rearrangements reveal cell of origin of TCF3-ZNF384 and PTPN11 mutations in monozygotic twins with concordant BCP-ALL. Blood. 2020 Aug 27;136(9):1108-1111.
Fernández-Barral A, Costales-Carrera A, Buira SP, Jung P, Ferrer-Mayorga G, Larriba MJ, Bustamante-Madrid P, Domínguez O, Real FX, Guerra-Pastrián L, Lafarga M, García-Olmo D, Cantero R, Del Peso L, Batlle E, Rojo F, Muñoz A, Barbáchano A. Vitamin D differentially regulates colon stem cells in patient-derived normal and tumor organoids. FEBS J. 2020 Jan;287(1):53-72.
2019
Bárcena C, Valdés-Mas R, Mayoral P, Garabaya C, Durand S, Rodríguez F, Fernández-García MT, Salazar N, Nogacka AM, Garatachea N, Bossut N, Aprahamian F, Lucia A, Kroemer G, Freije JMP, Quirós PM, López-Otín C. Healthspan and lifespan extension by fecal microbiota transplantation into progeroid mice. Nat Med. 2019 Aug;25(8):1234-1242.
Cuyàs E, Castillo D, Llorach-Parés L, Lozano-Sánchez J, Verdura S, Nonell-Canals A, Brunet J, Bosch-Barrera J, Joven J, Valdés R, Sanchez-Martinez M, Segura-Carretero A, Menendez JA. Computational de-orphanization of the olive oil biophenol oleacein: Discovery of new metabolic and epigenetic targets. Food Chem Toxicol. 2019 Sep;131:110529.
Rey V, Menendez ST, Estupiñan O, Rodriguez A, Santos L, Tornin J, Martinez-Cruzado L, Castillo D, Ordoñez GR, Costilla S, Alvarez-Fernandez C, Astudillo A, Braña A, Rodriguez R. New Chondrosarcoma Cell Lines with Preserved Stem Cell Properties to Study the Genomic Drift During In Vitro/In Vivo Growth. J Clin Med. 2019 Apr 4;8(4):455.
Martín-Garcia D, Navarro A, Valdés-Mas R, Clot G, Gutiérrez-Abril J, Prieto M, Ribera-Cortada I, Woroniecka R, Rymkiewicz G, Bens S, de Leval L, Rosenwald A, Ferry JA, Hsi ED, Fu K, Delabie J, Weisenburger D, de Jong D, Climent F, O’Connor SJ, Swerdlow SH, Torrents D, Beltran S, Espinet B, González-Farré B, Veloza L, Costa D, Matutes E, Siebert R, Ott G, Quintanilla-Martinez L, Jaffe ES, López-Otín C, Salaverria I, Puente XS, Campo E, Beà S. CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1– mantle cell lymphoma. Blood. 2019 Feb 28;133(9):940-951.
Bueno C, Calero-Nieto FJ, Wang X, Valdés-Mas R, Gutiérrez-Agüera F, Roca-Ho H, Ayllon V, Real PJ, Arambilet D, Espinosa L, Torres-Ruiz R, Agraz-Doblas A, Varela I, de Boer J, Bigas A, Gottgens B, Marschalek R, Menendez P. Enhanced hemato-endothelial specification during human embryonic differentiation through developmental cooperation between AF4-MLL and MLL-AF4 fusions. Haematologica. 2019 Jun;104(6):1189-1201.
2018
Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. BMC Med Genomics. 2018 Jul 9;11(1):58.
Karube K, Enjuanes A, Dlouhy I, Jares P, Martin-Garcia D, Nadeu F, Ordóñez GR, Rovira J, Clot G, Royo C, Navarro A, Gonzalez-Farre B, Vaghefi A, Castellano G, Rubio-Perez C, Tamborero D, Briones J, Salar A, Sancho JM, Mercadal S, Gonzalez-Barca E, Escoda L, Miyoshi H, Ohshima K, Miyawaki K, Kato K, Akashi K, Mozos A, Colomo L, Alcoceba M, Valera A, Carrió A, Costa D, Lopez-Bigas N, Schmitz R, Staudt LM, Salaverria I, López-Guillermo A, Campo E. Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets. Leukemia. 2018 Mar;32(3):675-684.
Alcobeda, M. et al. Design of a NGS Platform for the Integrated Analysis of Genetic Mutations, Copy Number Alteration and Somatic Hypermutation of IGHV in CLL. Blood (2018) 132 (Supplement 1): 1851.
Fernández L, González S, Quiles-Puchalt N, Gutiérrez D, Penadés JR, García P, Rodríguez A. Lysogenization of Staphylococcus aureus RN450 by phages ϕ11 and ϕ80α leads to the activation of the SigB regulon. Sci Rep. 2018 Aug 23;8(1):12662.
Bernardo-Castiñeira C, Valdés N, Sierra MI, Sáenz-de-Santa-María I, Bayón GF, Perez RF, Fernández AF, Fraga MF, Astudillo A, Menéndez R, Fernández B, Del Olmo M, Suarez C, Chiara MD. SDHC Promoter Methylation, a Novel Pathogenic Mechanism in Parasympathetic Paragangliomas. J Clin Endocrinol Metab. 2018 Jan 1;103(1):295-305.
2017
Jiménez C, Alonso-Álvarez S, Alcoceba M, Ordóñez GR, García-Álvarez M, Prieto-Conde MI, Chillón MC, Balanzategui A, Corral R, Marín LA, Gutiérrez NC, Puig N, Sarasquete ME, González M, García-Sanz R. From Waldenström’s macroglobulinemia to aggressive diffuse large B-cell lymphoma: a whole-exome analysis of abnormalities leading to transformation. Blood Cancer J. 2017 Aug 25;7(8):e591.
Cabanillas R, Diñeiro M, Castillo D, Pruneda PC, Penas C, Cifuentes GA, de Vicente Á, Durán NS, Álvarez R, Ordóñez GR, Cadiñanos J. A novel molecular diagnostics platform for somatic and germline precision oncology. Mol Genet Genomic Med. 2017 Apr 23;5(4):336-359.
Jiménez C, Jara-Acevedo M, Corchete LA, Castillo D, Ordóñez GR, Sarasquete ME, Puig N, Martínez-López J, Prieto-Conde MI, García-Álvarez M, Chillón MC, Balanzategui A, Alcoceba M, Oriol A, Rosiñol L, Palomera L, Teruel AI, Lahuerta JJ, Bladé J, Mateos MV, Orfão A, San Miguel JF, González M, Gutiérrez NC, García-Sanz R. A Next-Generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma. J Mol Diagn. 2017 Jan;19(1):99-106.
Bastida JM, González-Porras JR, Jiménez C, Benito R, Ordoñez GR, Álvarez-Román MT, Fontecha ME, Janusz K, Castillo D, Fisac RM, García-Frade LJ, Aguilar C, Martínez MP, Bermejo N, Herrero S, Balanzategui A, Martin-Antorán JM, Ramos R, Cebeiro MJ, Pardal E, Aguilera C, Pérez-Gutierrez B, Prieto M, Riesco S, Mendoza MC, Benito A, Hortal Benito-Sendin A, Jiménez-Yuste V, Hernández-Rivas JM, García-Sanz R, González-Díaz M, Sarasquete ME. Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes. Thromb Haemost. 2017 Jan 5;117(1):66-74.
Campa A, Ferreira JJ. Gene coding for an elongation factor is involved in resistance against powdery mildew in common bean. Theor Appl Genet. 2017 May;130(5):849-860.
Fernández L, González S, Campelo AB, Martínez B, Rodríguez A, García P. Low-level predation by lytic phage phiIPLA-RODI promotes biofilm formation and triggers the stringent response in Staphylococcus aureus. Sci Rep. 2017 Jan 19;7:40965.
Fernández L, González S, Campelo AB, Martínez B, Rodríguez A, García P. Downregulation of Autolysin-Encoding Genes by Phage-Derived Lytic Proteins Inhibits Biofilm Formation in Staphylococcus aureus. Antimicrob Agents Chemother. 2017 Apr 24;61(5):e02724-16.
Hidalgo, A. et al. Study of the genetic basis of the association between congenital hyperinsulinism and adult-type polycystic kidney disease. Rev Esp Endocrinol Pediatr 2017;8(3):6-11
2016
Alonso, S. et al. Whole-Exome Sequencing of Waldenström Macroglobulinemia Transformation into Aggressive Lymphoma. Blood 2016; 128 (22): 4101.
2015
Osorio FG, Soria-Valles C, Santiago-Fernández O, Bernal T, Mittelbrunn M, Colado E, Rodríguez F, Bonzon-Kulichenko E, Vázquez J, Porta-de-la-Riva M, Cerón J, Fueyo A, Li J, Green AR, Freije JM, López-Otín C. Loss of the proteostasis factor AIRAPL causes myeloid transformation by deregulating IGF-1 signaling. Nat Med. 2016 Jan;22(1):91-6.
2014
Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ. POT1 loss-of-function variants predispose to familial melanoma. Nat Genet. 2014 May;46(5):478-481.
2013
Fraile JM, Ordóñez GR, Quirós PM, Astudillo A, Galván JA, Colomer D, López-Otín C, Freije JM, Puente XS. Identification of novel tumor suppressor proteases by degradome profiling of colorectal carcinomas. Oncotarget. 2013 Nov;4(11):1919-32.
Ramsay AJ, Quesada V, Foronda M, Conde L, Martínez-Trillos A, Villamor N, Rodríguez D, Kwarciak A, Garabaya C, Gallardo M, López-Guerra M, López-Guillermo A, Puente XS, Blasco MA, Campo E, López-Otín C. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nat Genet. 2013 May;45(5):526-30.
2012
Valdés-Mas R, Bea S, Puente DA, López-Otín C, Puente XS. Estimation of copy number alterations from exome sequencing data. PLoS One. 2012;7(12):e51422.
2011
Quesada V, Conde L, Villamor N, Ordóñez GR, Jares P, Bassaganyas L, Ramsay AJ, Beà S, Pinyol M, Martínez-Trillos A, López-Guerra M, Colomer D, Navarro A, Baumann T, Aymerich M, Rozman M, Delgado J, Giné E, Hernández JM, González-Díaz M, Puente DA, Velasco G, Freije JM, Tubío JM, Royo R, Gelpí JL, Orozco M, Pisano DG, Zamora J, Vázquez M, Valencia A, Himmelbauer H, Bayés M, Heath S, Gut M, Gut I, Estivill X, López-Guillermo A, Puente XS, Campo E, López-Otín C. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet. 2011 Dec 11;44(1):47-52.
Puente XS, Pinyol M, Quesada V, Conde L, Ordóñez GR, Villamor N, Escaramis G, Jares P, Beà S, González-Díaz M, Bassaganyas L, Baumann T, Juan M, López-Guerra M, Colomer D, Tubío JM, López C, Navarro A, Tornador C, Aymerich M, Rozman M, Hernández JM, Puente DA, Freije JM, Velasco G, Gutiérrez-Fernández A, Costa D, Carrió A, Guijarro S, Enjuanes A, Hernández L, Yagüe J, Nicolás P, Romeo-Casabona CM, Himmelbauer H, Castillo E, Dohm JC, de Sanjosé S, Piris MA, de Alava E, San Miguel J, Royo R, Gelpí JL, Torrents D, Orozco M, Pisano DG, Valencia A, Guigó R, Bayés M, Heath S, Gut M, Klatt P, Marshall J, Raine K, Stebbings LA, Futreal PA, Stratton MR, Campbell PJ, Gut I, López-Guillermo A, Estivill X, Montserrat E, López-Otín C, Campo E. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature. 2011 Jun 5;475(7354):101-5.
Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadiñanos J, Fraile JM, Ordóñez GR, Puente DA, Gutiérrez-Fernández A, Fanjul-Fernández M, Lévy N, Freije JM, López-Otín C. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet. 2011 May 13;88(5):650-6.