Research

Publicaciones científicas

  • Mazuelas, H, Magallon-Lorenz, M, Uriarte-Arrazola, I, Negro, A, Rosas, I, Blanco, I, Castellanos, E, Lazaro, C, Gel, B, Carrio, M and Serra, E.

    Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas

    JCI insight 9(3):

    [doi:10.1172/jci.insight.168826]

  • Deza, DC, Cuadro, CP, de Francisco, R, González, MV, Bermejo, F, Blanco, I, de la Serna, A, Bujanda, L, Bernal, L, García, JLR, Gargallo-Puyuelo, CJ, Fuentes-Valenzuela, E, Castro, B, Guardiola, J, Ladrón, G, Suria, C, Fuster, JS, Gisbert, JP, Sicilia, B, Gomez, R, Vilafranca, CM, Barreiro-De Acosta, M, Peña, E, Pradillo, MC, Cerrillo, E, Calvet, X, Manceñido, N, Miquel, DMI, Marín, S, Roig, C, Marce, A, de Piscina, PR, Betoré, E, Martin-Cardona, A, Teller, M, Abreu, IA, Maroto, N, Frago, S, Gardeazabal, D, Pérez-Martínez, I, González, ADF, Barrero, S, Taxonera, C, de la Filia, IG, Ezkurra-Altuna, A, Madero, L, Martín-Arranz, MD, Gomollón, F, Domènech, E and García-López, S.

    Initial Management of Intra-abdominal Abscesses and Preventive Strategies for Abscess Recurrence in Penetrating Crohn's Disease: A National, Multicentre Study Based on ENEIDA Registry

    JOURNAL OF CROHNS & COLITIS :

    [doi:10.1093/ecco-jcc/jjad184]

  • Maroto, AF, Borrajo, M, Prades, S, Callejo, A, Amilibia, E, Perez-Grau, M, Roca-Ribas, F, Castellanos, E, Barrallo-Gimeno, A and Llorens, J.

    The vestibular calyceal junction is dismantled following subchronic streptomycin in rats and sensory epithelium stress in humans

    Archives of Toxicology 97(7): 1943-1961

    [doi:10.1007/s00204-023-03518-z]

  • Pradenas, E, Marfil, S, Urrea, V, Trigueros, M, Pidkova, T, Pons-Grifols, A, Ortiz, R, Rovirosa, C, Tarres-Freixas, F, Aguilar-Gurrieri, C, Toledo, R, Chamorro, A, Noguera-Julian, M, Mateu, L, Blanco, I, Grau, E, Massanella, M, Carrillo, J, Clote, B, Trinite, B and Blanco, J.

    Impact of hybrid immunity booster vaccination and Omicron breakthrough infection on SARS-CoV-2 VOCs cross-neutralization

    iScience 26(4):

    [doi:10.1016/j.isci.2023.106457]

  • Suner, C, Ubals, M, Tarin-Vicente, EJ, Mendoza, A, Alemany, A, Hernandez-Rodriguez, A, Casan, C, Descalzo, V, Ouchi, D, Marc, A, Rivero, A, Coll, P, Oller, X, Cabrera, JM, Vall-Mayans, M, Folgueira, MD, Melendez, MA, Agud-Dios, M, Gil-Cruz, E, de Leon, AP, Marinero, AR, Buhiichyk, V, Galvan-Casas, C, Paredes, R, Prat, N, Farre, MRS, Bonet-Simo, JM, Farre, M, Ortiz-Romero, PL, Clotet, B, Garcia-Patos, V, Casabona, J, Guedj, J, Cardona, PJ, Blanco, I, Marks, M and Mitja, O.

    Viral dynamics in patients with monkeypox infection: a prospective cohort study in Spain

    LANCET INFECTIOUS DISEASES 23(4): 445-453

    [doi:10.1016/S1473-3099(22)00794-0]

  • Abril-Fornaguera, J, Torrens, L, Andreu-Oller, C, Carrillo-Reixach, J, Rialdi, A, Balaseviciute, U, Pinyol, R, Montironi, C, Haber, PK, Del Rfo-Alvarez, A, Domingo-Sabat, M, Royo, L, Akers, NK, Willoughby, CE, Peix, J, Torres-Martin, M, Puigvehi, M, Cairo, S, Childs, M, Maibach, R, Alaggio, R, Czauderna, P, Morland, B, Losic, B, Mazzaferro, V, Guccione, E, Sia, D, Armengol, C and Llovet, JM.

    Identification of IGF2 as Genomic Driver and Actionable Therapeutic Target in Hepatoblastoma

    Molecular Cancer Therapeutics 22(4): 485-498

    [doi:10.1158/1535-7163.MCT-22-0335]

  • Magallón-Lorenz, M, Terribas, E, Ortega-Bertran, S, Creus-Bachiller, E, Fernández, M, Requena, G, Rosas, I, Mazuelas, H, Uriarte-Arrazola, I, Negro, A, Lausová, T, Castellanos, E, Blanco, I, DeVries, G, Kawashima, H, Legius, E, Brems, H, Mautner, V, Kluwe, L, Ratner, N, Wallace, M, Fernández-Rodriguez, J, Lázaro, C, Fletcher, JA, Reuss, D, Carrió, M, Gel, B and Serra, E.

    Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

    iScience 26(2):

    [doi:10.1016/j.isci.2023.106096]

  • Carton, C, Evans, DG, Blanco, I, Friedrich, RE, Ferner, RE, Farschtschi, S, Salvador, H, Azizi, AA, Mautner, V, Röhl, C, Peltonen, S, Stivaros, S, Legius, E and Oostenbrink, R.

    ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

    EClinicalMedicine 56:

    [doi:10.1016/j.eclinm.2022.101818]

  • Plana-Pla, A, Condal, L, Jaka, A, Blanco, I, Castellanos, E and Bielsa, I.

    Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome

    Pediatric Dermatology 40(1): 179-181

    [doi:10.1111/pde.15116]

  • Bordoy, AE, Valles, X, Not, A, Chiner-Oms, A, Saludes, V, Cervos, JT, Roig, AR, Juan-Andres, C, Sureda, H, Pardo-Amil, V, Garcia, I, Rossell, GG, Cibeira, LC, Casan, C, Gimenez, M, Blanco, I, Torres-Puente, M, Cancino-Munoz, I, Gonzalez-Candelas, F, Comas, I and Martro, E.

    Epidemiological and Genomic Analysis of a Large SARS-CoV-2 Outbreak in a Long-Term Care Facility in Catalonia, Spain

    mSphere 7(6):

    [doi:10.1128/msphere.00346-22]

  • Bordoy, Antoni E., Saludes, Veronica, Panisello Yague, David, Clara, Gemma, Soler, Laia, Paris de Leon, Alexia, Casan, Cristina, Blanco-Suarez, Ana, Guerrero-Murillo, Mercedes, Rodriguez-Ponga, Beatriz, Noguera-Julian, Marc, Catala-Moll, Francesc, Pey, Irina, Pilar Armengol, Maria, Casadella, Maria, Parera, Mariona, Pluvinet, Raquel, Sumoy, Lauro, Clotet, Bonaventura, Gimenez, Montserrat, Martro, Elisa, Cardona, Pere-Joan and Blanco, Ignacio.

    Monitoring SARS-CoV-2 variant transitions using differences in diagnostic cycle threshold values of target genes

    Scientific Reports 12(1):

    [doi:10.1038/s41598-022-25719-9]

  • Catasus, Nuria, Rosas, Inma, Bonache, Sandra, Negro, Alex, Torres-Martin, Miguel, Plana-Pla, Adria, Salvador, Hector, Serra, Eduard, Blanco, Ignacio and Castellanos, Elisabeth.

    Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro

    MOLECULAR THERAPY-NUCLEIC ACIDS 30: 493-505

    [doi:10.1016/j.omtn.2022.10.026]

  • Alemany, A, Perez-Zsolt, D, Raich-Regue, D, Munoz-Basagoiti, J, Ouchi, D, Laporte-Villar, C, Baro, B, Henriquez, N, Prat, N, Gianinetto, MO, Gutierrez, MV, Sanchez-Paniagua, MG, Henriquez, NL, Vicente, JM, Ara, J, Rodriguez-Arias, MA, Puig, J, Blanco, I, Lopez, CC, Hernandez, A, Bordoy, AE, Redondo, CE, Soler, VG, Gimenez, M, Blanc, V, Leon, R, Gispert, J, Clotet, B, Izquierdo-Useros, N and Mitja, O.

    Cetylpyridinium Chloride Mouthwash to Reduce Shedding of Infectious SARS-CoV-2: A Double-Blind Randomized Clinical Trial

    Journal of Dental Research 101(12): 1450-1456

    [doi:10.1177/00220345221102310]

  • Jenkins, EC, Chattopadhyay, M, Gomez, M, Torre, D, Ma'ayan, A, Torres-Martin, M, Sia, D and Germain, D.

    Age alters the oncogenic trajectory toward luminal mammary tumors that activate unfolded proteins responses

    AGING CELL 21(10):

    [doi:10.1111/acel.13665]

  • Lopez-Munoz, I, Torrella, A, Perez-Quilez, O, Castillo-Zuza, A, Martro, E, Bordoy, AE, Saludes, V, Blanco, I, Soldevila, L, Estrada, O, Valerio, L, Roure, S and Valles, X.

    SARS-CoV-2 Secondary Attack Rates in Vaccinated and Unvaccinated Household Contacts during Replacement of Delta with Omicron Variant, Spain

    Emerging Infectious Diseases 28(10): 1999-2008

    [doi:10.3201/eid2810.220494]

  • Garcia, B, Catasus, N, Ros, A, Rosas, I, Negro, A, Guerrero-Murillo, M, Valero, AM, Duat-Rodriguez, A, Becerra, JL, Bonache, S, Garcia, CL, Comas, C, Bielsa, I, Serra, E, Hernandez-Chico, C, Martin, Y, Castellanos, E and Blanco, I.

    Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

    Journal of Medical Genetics 59(10): 1017-1023

    [doi:10.1136/jmedgenet-2021-108301]

  • Vela-Sebastian, A, Lopez-Gallardo, E, Emperador, S, Hernandez-Ainsa, C, Pacheu-Grau, D, Blanco, I, Ros, A, Pascual-Benito, E, Rabaneda-Lombarte, N, Presas-Rodriguez, S, Garcia-Robles, P, Montoya, J and Ruiz-Pesini, E.

    Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

    Clinical Genetics 102(4): 339-344

    [doi:10.1111/cge.14189]

  • Violan, C, Toran-Monserrat, P, Quirant, B, Lamonja-Vicente, N, Carrasco-Ribelles, LA, Chacon, C, Manresa-Dominguez, JM, Ramos-Roure, F, Dacosta-Aguayo, R, Palacios-Fernandez, C, Roso-Llorach, A, Pujol, A, Ouchi, D, Monteagudo, M, Montero-Alia, P, Garcia-Sierra, R, Armestar, F, Dolade, M, Prat, N, Bonet, JM, Clotet, B, Blanco, I, Boigues-Pons, M, Moreno-Millan, N, Prado, JG and Caceres, EMM.

    Kinetics of humoral immune response over 17 months of COVID-19 pandemic in a large cohort of healthcare workers in Spain: the ProHEpiC-19 study

    BMC Infectious Diseases 22(1):

    [doi:10.1186/s12879-022-07696-6]

  • Plana-Pla, A, Garcia, B, Munera-Campos, M, Catasus, N, Arenas, ES, Blanco, I, Perez, EC and Bielsa, I.

    Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas

    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY 36(9): 1632-1640

    [doi:10.1111/jdv.18190]

  • Catala, M, Coma, E, Alonso, S, Andres, C, Blanco, I, Anton, A, Bordoy, AE, Cardona, PJ, Fina, F, Martro, E, Medina, M, Mora, N, Saludes, V, Prats, C, Prieto-Alhambra, D and Alvarez-Lacalle, E.

    Transmissibility, hospitalization, and intensive care admissions due to omicron compared to delta variants of SARS-CoV-2 in Catalonia: A cohort study and ecological analysis

    Frontiers in Public Health 10:

    [doi:10.3389/fpubh.2022.961030]

  • Evans, DG, Mostaccioli, S, Pang, D, Connor, MFO, Pittara, M, Champollion, N, Wolkenstein, P, Thomas, N, Ferner, RE, Kalamarides, M, Peyre, M, Papi, L, Legius, E, Becerra, JL, King, A, Duff, C, Stivaros, S and Blanco, I.

    ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis

    European Journal of Human Genetics 30(7): 812-817

    [doi:10.1038/s41431-022-01086-x]

  • Fernandez-Rivas, G, Barallat, J, Quirant-Sanchez, B, Gonzalez, V, Dolade, M, Martinez-Caceres, E, Pina, M, Matllo, J, Blanco, I and Cardona, PJ.

    Follow up of the Humoral Response in Healthcare Workers after the Administration of Two Dose of the Anti SARS-CoV-2 Vaccines-Effectiveness in Delta Variant Breakthrough Infections

    VIRUSES-BASEL 14(7):

    [doi:10.3390/v14071385]

  • Catasus, N, Garcia, B, Galvan-Femenia, I, Plana, A, Negro, A, Rosas, I, Ros, A, Amilibia, E, Becerra, JL, Hostalot, C, Rocaribas, F, Bielsa, I, Garcia, CL, de Cid, R, Serra, E, Blanco, I and Castellanos, E.

    Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component

    Journal of Medical Genetics 59(7): 678-686

    [doi:10.1136/jmedgenet-2020-107548]

  • Millat-Martinez, P, Gharbharan, A, Alemany, A, Rokx, C, Geurtsvankessel, C, Papageourgiou, G, van Geloven, N, Jordans, C, Groeneveld, G, Swaneveld, F, van der Schoot, E, Corbacho-Monne, M, Ouchi, D, Ferreira, FP, Malchair, P, Videla, S, Garcia, VG, Ruiz-Comellas, A, Ramirez-Morros, A, Codina, JR, Simon, RA, Grifols, JR, Blanco, J, Blanco, I, Ara, J, Bassat, Q, Clotet, B, Baro, B, Troxel, A, Zwaginga, JJ, Mitja, O and Rijnders, BJA.

    Prospective individual patient data meta-analysis of two randomized trials on convalescent plasma for COVID-19 outpatients

    Nature Communications 13(1):

    [doi:10.1038/s41467-022-29911-3]

  • Kilpelainen, A, Jimenez-Moyano, E, Blanch-Lombarte, O, Ouchi, D, Pena, R, Quirant-Sanchez, B, Perez-Caballero, R, Chamorro, A, Blanco, I, Martinez-Caceres, E, Paredes, R, Mateu, L, Carrillo, J, Blanco, J, Brander, C, Massanella, M, Clotet, B and Prado, JG.

    Skewed Cellular Distribution and Low Activation of Functional T-Cell Responses in SARS-CoV-2 Non-Seroconvertors

    Frontiers in Immunology 13:

    [doi:10.3389/fimmu.2022.815041]

  • Raich-Regue, D, Munoz-Basagoiti, J, Perez-Zsolt, D, Noguera-Julian, M, Pradenas, E, Riveira-Munoz, E, Gimenez, N, Carabaza, A, Gimenez, F, Saludes, V, Martro, E, Robert, N, Blanco, I, Paredes, R, Ruiz, L, Ballana, E, Clotet, B, Blanco, J and Izquierdo-Useros, N.

    Performance of SARS-CoV-2 Antigen-Detecting Rapid Diagnostic Tests for Omicron and Other Variants of Concern

    Frontiers in Microbiology 13:

    [doi:10.3389/fmicb.2022.810576]

  • Tarres-Freixas, F, Trinite, B, Pons-Grifols, A, Romero-Durana, M, Riveira-Munoz, E, Avila-Nieto, C, Perez, M, Garcia-Vidal, E, Perez-Zsolt, D, Munoz-Basagoiti, J, Raich-Regue, D, Izquierdo-Useros, N, Andres, C, Anton, A, Pumarola, T, Blanco, I, Noguera-Julian, M, Guallar, V, Lepore, R, Valencia, A, Urrea, V, Vergara-Alert, J, Clotet, B, Ballana, E, Carrillo, J, Segales, J and Blanco, J.

    Heterogeneous Infectivity and Pathogenesis of SARS-CoV-2 Variants Beta, Delta and Omicron in Transgenic K18-hACE2 and Wildtype Mice

    Frontiers in Microbiology 13:

    [doi:10.3389/fmicb.2022.840757]

  • Ros, TP, Aytes, AP, Sagredo, JMG, de Bustamante, AD and Guillermo, IB.

    Genomic newborn screening. Perspective from the Ethics Commission of the Spanish Society for Human Genetics. Part II: Ethical, legal and social issues (ELSIs) of the introduction of next generation sequencing technologies in a public health newborn screening program

    Revista Espanola de Salud Publica 96:

  • Mazuelas, H, Magallon-Lorenz, M, Fernandez-Rodriguez, J, Uriarte-Arrazola, I, Richaud-Patin, Y, Terribas, E, Villanueva, A, Castellanos, E, Blanco, I, Raya, A, Chojnacki, J, Heyn, H, Romagosa, C, Lazaro, C, Gel, B, Carrio, M and Serra, E.

    Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas

    Cell Reports 38(7):

    [doi:10.1016/j.celrep.2022.110385]

  • Ros, TP, Aytes, AP, Sagredo, JMG, de Bustamante, AD and Guillermo, IB.

    Genomic newborn screening. Perspective from the Ethics commission of the Spanish Society for Human Genetics. Part I. Next generation sequencing technologies applied to newborn screening. Challenges and opportunities

    Revista Espanola de Salud Publica 96: 1-20

    [doi:10.1002/hast.874]

  • Fernández-Rivas G, Barallat J, Gonzalez V, Martinez S, Bordoy AE, Jimenez L, Casañ C and Blanco I.

    Analytical Performance of Quantitative DiaSorin Liaison SARS-COV-2 Antigen Test for the Asymptomatic Population.

    Frontiers in Public Health 9: 788581-788581

    [doi:10.3389/fpubh.2021.788581]

  • Bordas, A, Soriano-Arandes, A, Subirana, M, Malagrida, R, Reyes-Uruena, JM, Folch, C, Soler-Palacin, P, Gascon, M, Sunyer, J, Anton, A, Blanco, I, Fernandez-Morales, J, Colom-Cadena, A, Sentis, A, Pumarola, T, Basora, J and Casabona, J.

    Study protocol for monitoring SARS-CoV-2 infection and its determinants in Catalonia (Spain): an observational and participatory research approach in a Sentinel Network of Schools

    BMJ Open 12(1):

    [doi:10.1136/bmjopen-2021-055649]

  • Piotrowski, A, Koczkowska, M, Poplawski, AB, Bartoszewski, R, Kroliczewski, J, Mieczkowska, A, Gomes, A, Crowley, MR, Crossman, DK, Chen, YJ, Lao, P, Serra, E, Llach, MC, Castellanos, E and Messiaen, LM.

    Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience

    Human Mutation 43(1): 74-84

    [doi:10.1002/humu.24294]

  • Moreno-Cabrera, JM, Del Valle, J, Castellanos, E, Feliubadalo, L, Pineda, M, Serra, E, Capella, G, Lazaro, C and Gel, B.

    CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

    BIOINFORMATICS 37(22): 4227-4229

    [doi:10.1093/bioinformatics/btab356]

  • Magallon-Lorenz, M, Fernandez-Rodriguez, J, Terribas, E, Creus-Batchiller, E, Romagosa, C, Estival, A, Sidelnikova, DP, Salvador, H, Villanueva, A, Blanco, I, Carrio, M, Lazaro, C, Serra, E and Gel, B.

    Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation

    Human Genetics 140(8): 1241-1252

    [doi:10.1007/s00439-021-02296-x]

  • Vilaplana, F, Ros, A, Garcia, B, Blanco, I, Castellanos, E, Edwards, NJ, Valldeperas, X, Ruiz-Bilbao, S and Sabala, A.

    Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy

    Ophthalmic Genetics 42(4): 474-479

    [doi:10.1080/13816810.2021.1916827]

  • Baro, B, Rodo, P, Ouchi, D, Bordoy, AE, Amaro, ENS, Salsench, SV, Molinos, S, Alemany, A, Ubals, M, Corbacho-Monne, M, Millat-Martinez, P, Marks, M, Clotet, B, Prat, N, Estrada, O, Vilar, M, Ara, J, Vall-Mayans, M, G-Beiras, C, Bassat, Q, Blanco, I and Mitja, O.

    Performance characteristics of five antigen-detecting rapid diagnostic test (Ag-RDT) for SARS-CoV-2 asymptomatic infection: a head-to-head benchmark comparison

    Journal of Infection 82(6): 269-275

    [doi:10.1016/j.jinf.2021.04.009]

  • Trinite, B, Pradenas, E, Marfil, S, Rovirosa, C, Urrea, V, Tarres-Freixas, F, Ortiz, R, Rodon, J, Vergara-Alert, J, Segales, J, Guallar, V, Lepore, R, Izquierdo-Useros, N, Trujillo, G, Trape, J, Gonzalez-Fernandez, C, Flor, A, Perez-Vidal, R, Toledo, R, Chamorro, A, Paredes, R, Blanco, I, Grau, E, Massanella, M, Carrillo, J, Clotet, B and Blanco, J.

    Previous SARS-CoV-2 Infection Increases B.1.1.7 Cross-Neutralization by Vaccinated Individuals

    VIRUSES-BASEL 13(6):

    [doi:10.3390/v13061135]

  • Valles, X, Roure, S, Valerio, L, Lopez-Munoz, I, Perez-Quilez, O, Soldevila, L, Martin-Cano, L, Estrada, O, Palacin, MD, Blanco, I, Orozco, J, Esquerra, A and Villanova, X.

    SARS-CoV-2 contact tracing among disadvantaged populations during epidemic intervals should be a priority strategy: results from a pilot experiment in Barcelona

    Public Health 195: 132-134

    [doi:10.1016/j.puhe.2021.04.027]

  • Carrato, C, Sanz, C, Munoz-Marmol, AM, Blanco, I, Pineda, M, Del Valle, J, Damaso, E, Esteller, M and Musulen, E.

    The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals

    International Journal of Molecular Sciences 22(9):

    [doi:10.3390/ijms22094629]

  • Rodon, J, Munoz-Basagoiti, J, Perez-Zsolt, D, Noguera-Julian, M, Paredes, R, Mateu, L, Quinones, C, Perez, C, Erkizia, I, Blanco, I, Valencia, A, Guallar, V, Carrillo, J, Blanco, J, Segales, J, Clotet, B, Vergara-Alert, J and Izquierdo-Useros, N.

    Identification of Plitidepsin as Potent Inhibitor of SARS-CoV-2-Induced Cytopathic Effect After a Drug Repurposing Screen

    Frontiers in Pharmacology 12: 646676-646676

    [doi:10.3389/fphar.2021.646676]

  • Biayna, J, Mazuelas, H, Gel, B, Terribas, E, Dumbovic, G, Rosas, I, Fernandez-Rodriguez, J, Blanco, I, Castellanos, E, Carrio, M, Lazaro, C and Serra, E.

    Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

    Scientific Reports 11(1): 3661-3661

    [doi:10.1038/s41598-021-83152-w]

  • Moreno-Cabrera, JM, del Valle, J, Castellanos, E, Feliubadalo, L, Pineda, M, Brunet, J, Serra, E, Capella, G, Lazaro, C and Gel, B.

    Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

    European Journal of Human Genetics 28(12): 1645-1655

    [doi:10.1038/s41431-020-0675-z]

  • Segales, J, Puig, M, Rodon, J, Avila-Nieto, C, Carrillo, J, Cantero, G, Terron, MT, Cruz, S, Parera, M, Noguera-Julian, M, Izquierdo-Useros, N, Guallar, V, Vidal, E, Valencia, A, Blanco, I, Blanco, J, Clotet, B and Vergara-Alert, J.

    Detection of SARS-CoV-2 in a cat owned by a COVID-19-affected patient in Spain

    Proceedings of the National Academy of Sciences of the United States of America 117(40): 24790-24793

    [doi:10.1073/pnas.2010817117]

  • Fernandez-Rodriguez, J, La Madrid, AM, Gel, B, Heredia, AC, Salvador, H, Martinez-Iniesta, M, Moutinho, C, Morata, J, Heyn, H, Blanco, I, Creus-Bachiller, E, Capella, G, Farre, L, Vidal, A, Soldado, F, Krauel, L, Sunol, M, Serra, E, Villanueva, A and Lazaro, C.

    Use of patient derived orthotopic xenograft models for real-time therapy guidance in a pediatric sporadic malignant peripheral nerve sheath tumor

    Therapeutic Advances in Medical Oncology 12:

    [doi:10.1177/1758835920929579]

  • Terribas E, Fernández M, Mazuelas H, Fernández-Rodríguez J, Biayna J, Blanco I, Bernal G, Ramos-Oliver I, Thomas C, Guha R, Zhang X, Gel B, Romagosa C, Ferrer M, Lázaro C and Serra E.

    KIF11 and KIF15 mitotic kinesins are potential therapeutic vulnerabilities for malignant peripheral nerve sheath tumors.

    Neuro-Oncology Advances 2(Suppl 1):

    [doi:10.1093/noajnl/vdz061]

  • Castellanos, E, Rosas, I, Negro, A, Gel, B, Alibes, A, Baena, N, Pineda, M, Pi, G, Pintos, G, Salvador, H, Lazaro, C, Blanco, I, Vilageliu, L, Brems, H, Grinberg, D, Legius, E and Serra, E.

    Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple cafe-au-lait macules

    Clinical Genetics 97(2): 264-275

    [doi:10.1111/cge.13649]

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