Publications by authors named "Pablo Minguez"

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Uncovering mirnomes of patients with interstitial lung diseases and an underlying autoimmune process.
Olga Sánchez-Pernaute, Yolanda Benítez, Cristina Vadillo Font, Ma Asunción Nieto, Laura Cebrián

Respir Res· December 2025

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Prolonged survival in a patient with pbrm1 mutated metastatic cholangiocarcinoma receiving tazemetostat.
Manuel Pedregal, Esther Cabañas Morafraile, Alberto Garrido, Bernard Doger, Tatiana Hernandez, Pablo Minguez

NPJ Precis Oncol· October 2025

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Aurora kinase A drives non-canonical YAP1/TAZ crosstalk to sustain primary resistance to anti-EGFR therapies in colorectal cancer.
Anxo Rio-Vilariño, Ana Garcia-Bautista, Aiora Cenigaonandia-Campillo, Pedro A Mateos-Gomez, Laura Garcia-Garcia, Pablo Minguez

Mol Ther Oncol· September 2025

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SARS-CoV-2 mutant spectrum complexity is an epidemiologically evolvable trait.
Brenda Martínez-González, María Eugenia Soria, Ana Isabel de Ávila, Pilar Somovilla, Claudia Aguilar-Sabido

Proc Natl Acad Sci U S A· September 2025

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SARS-CoV-2 biological clones are genetically heterogeneous and include clade-discordant residues.
Ana Isabel de Ávila, María Eugenia Soria, Brenda Martínez-González, Pilar Somovilla, Pablo Mínguez

J Virol· May 2025

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Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB.
Lidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, María Inmaculada Martín-Mérida, Mathieu Quinodoz, Pablo Minguez

Sci Rep· April 2025

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Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.
Cristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, Marta Rodríguez de Alba, Fiona Blanco-Kelly, Pablo Minguez

Int J Mol Sci· April 2025

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Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients.
Alexandre Serra-Llovich, Natalia Cullell, Olalla Maroñas, María José Herrero, Raquel Cruz, Pablo Minguez

Biomedicines· February 2025

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Annexin A8 deficiency delays atherosclerosis progression.
Carmen Gutiérrez-Muñoz, Rafael Blázquez-Serra, Irene San Sebastian-Jaraba, Sandra Sanz-Andrea, Maria J Fernández-Gómez

Clin Transl Med· January 2025

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Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez

Mol Ther Nucleic Acids· December 2024

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Novel risk loci for COVID-19 hospitalization among admixed American populations.
Silvia Diz-de Almeida, Raquel Cruz, Andre D Luchessi, José M Lorenzo-Salazar, Miguel López de Heredia, Manuela Gago-Dominguez, Pablo Minguez

Elife· October 2024

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Cas9-targeted-based long-read sequencing for genetic screening of locus.
Cristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, Raquel Romero, Lidia Fernández-Caballero

Front Genet· October 2024

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Benralizumab reduces blood basophil percentage and activation in vitro without eliciting degranulation.
Marta Gil-Martínez, José Manuel Rodrigo-Muñoz, Clara Lorente-Sorolla, Zahara García de Castro, Pablo Mínguez

Allergy· September 2024

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Synergism between remdesivir and ribavirin leads to SARS-CoV-2 extinction in cell culture.
Carlos García-Crespo, Ana Isabel de Ávila, Isabel Gallego, María Eugenia Soria, Antoni Durán-Pastor

Br J Pharmacol· August 2024

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The Urinary Glycopeptide Profile Differentiates Early Cardiorenal Risk in Subjects Not Meeting Criteria for Chronic Kidney Disease.
Aranzazu Santiago-Hernandez, Marta Martin-Lorenzo, María Gómez-Serrano, Juan Antonio Lopez, Ariadna Martin-Blazquez, Pablo Minguez

Int J Mol Sci· June 2024

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Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Mathieu Quinodoz, Karolina Kaminska, Francesca Cancellieri, Ji Hoon Han, Virginie G Peter, Pablo Minguez

Am J Hum Genet· April 2024

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Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Francisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, Alberto Blázquez, Juan F Quesada-Espinosa, Pablo Minguez

Neurol Genet· April 2024

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-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Pablo Minguez

Int J Mol Sci· March 2024

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SARS-CoV-2 mutant spectra as variant of concern nurseries: endless variation?
Brenda Martínez-González, María Eugenia Soria, Pablo Mínguez, Ramón Lorenzo-Redondo, Llanos Salar-Vidal

Front Microbiol· March 2024

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Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Cristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Almudena Avila-Fernandez, Pablo Minguez

Am J Ophthalmol· October 2023

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Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Gonzalo Núñez-Moreno, Alejandra Tamayo, Carolina Ruiz-Sánchez, Marta Cortón, Pablo Mínguez

Hum Genet· July 2023

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Comparison of Extracellular Vesicle Isolation Methods for miRNA Sequencing.
Meritxell Llorens-Revull, Brenda Martínez-González, Josep Quer, Juan Ignacio Esteban, Gonzalo Núñez-Moreno

Int J Mol Sci· July 2023

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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba

Hum Genomics· June 2023

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Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Francisco Martínez-Granero, Elena Martínez-Cayuelas, Cristina Rodilla, Gonzalo Núñez-Moreno, Marta Rodríguez de Alba, Pablo Minguez

Clin Genet· April 2023

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VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Gonzalo Núñez-Moreno, Alejandra Tamayo, Carolina Ruiz-Sánchez, Marta Cortón, Pablo Mínguez

Hum Genet· April 2023

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