VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing

por Núñez-Moreno, Gonzalo, Tamayo, Alejandra, Ruiz-Sánchez, Carolina, Cortón, Marta, Mínguez, Pablo
Publicado 2023

Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing

por Núñez-Moreno, Gonzalo, Tamayo, Alejandra, Ruiz-Sánchez, Carolina, Cortón, Marta, Mínguez, Pablo
Publicado 2023

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

por Tamayo, Alejandra, Núñez-Moreno, Gonzalo, Ruiz, Carolina, Plaisancie, Julie, Damian, Alejandra, Moya, Jennifer, Chassaing, Nicolas, Calvas, Patrick, Ayuso, Carmen, Minguez, Pablo, Corton, Marta
Publicado 2023

Germline gain‐of‐function MMP11 variant results in an aggressive form of colorectal cancer

por Martin‐Morales, Lorena, Manzano, Sara, Rodrigo‐Faus, Maria, Vicente‐Barrueco, Adrian, Lorca, Victor, Núñez‐Moreno, Gonzalo, Bragado, Paloma, Porras, Almudena, Caldes, Trinidad, Garre, Pilar, Gutierrez‐Uzquiza, Alvaro
Publicado 2022

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

por Damián, Alejandra, Núñez-Moreno, Gonzalo, Jubin, Claire, Tamayo, Alejandra, de Alba, Marta Rodríguez, Villaverde, Cristina, Fund, Cédric, Delépine, Marc, Leduc, Aurélie, Deleuze, Jean François, Mínguez, Pablo, Ayuso, Carmen, Corton, Marta
Publicado 2023

Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts

por Damián, Alejandra, Ionescu, Raluca Oancea, Rodríguez de Alba, Marta, Tamayo, Alejandra, Trujillo-Tiebas, María José, Cotarelo-Pérez, María Carmen, Pérez Rodríguez, Olga, Villaverde, Cristina, de la Fuente, Lorena, Romero, Raquel, Núñez-Moreno, Gonzalo, Mínguez, Pablo, Ayuso, Carmen, Cortón, Marta
Publicado 2021

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19

por López-Rodríguez, Rosario, Del Pozo-Valero, Marta, Corton, Marta, Minguez, Pablo, Ruiz-Hornillos, Javier, Pérez-Tomás, María Elena, Barreda-Sánchez, María, Mancebo, Esther, Villaverde, Cristina, Núñez-Moreno, Gonzalo, Romero, Raquel, Paz-Artal, Estela, Guillén-Navarro, Encarna, Almoguera, Berta, Ayuso, Carmen
Publicado 2022

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

por Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, de la Fuente, Lorena, Romero, Raquel, Ávila-Fernandez, Almudena, Trujillo-Tiebas, María José, Riveiro-Álvarez, Rosa, Almoguera, Berta, Martín-Mérida, Inmaculada, Del Pozo-Valero, Marta, Damián-Verde, Alejandra, Cortón, Marta, Ayuso, Carmen, Minguez, Pablo
Publicado 2022

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

por Romero, Raquel, de la Fuente, Lorena, Del Pozo-Valero, Marta, Riveiro-Álvarez, Rosa, Trujillo-Tiebas, María José, Martín-Mérida, Inmaculada, Ávila-Fernández, Almudena, Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, Damián, Alejandra, Rodilla, Cristina, Almoguera, Berta, Cortón, Marta, Ayuso, Carmen, Mínguez, Pablo
Publicado 2022

Comparison of Extracellular Vesicle Isolation Methods for miRNA Sequencing

por Llorens-Revull, Meritxell, Martínez-González, Brenda, Quer, Josep, Esteban, Juan Ignacio, Núñez-Moreno, Gonzalo, Mínguez, Pablo, Burgui, Idoia, Ramos-Ruíz, Ricardo, Soria, María Eugenia, Rico, Angie, Riveiro-Barciela, Mar, Sauleda, Silvia, Piron, María, Corrales, Irene, Borràs, Francesc E., Rodríguez-Frías, Francisco, Rando, Ariadna, Ramírez-Serra, Clara, Camós, Silvia, Domingo, Esteban, Bes, Marta, Perales, Celia, Costafreda, Maria Isabel
Publicado 2023

Analysis of Differentially Expressed MicroRNAs in Serum and Lung Tissues from Individuals with Severe Asthma Treated with Oral Glucocorticoids

por Gil-Martínez, Marta, Lorente-Sorolla, Clara, Rodrigo-Muñoz, José M., Lendínez, Miguel Ángel, Núñez-Moreno, Gonzalo, de la Fuente, Lorena, Mínguez, Pablo, Mahíllo-Fernández, Ignacio, Sastre, Joaquín, Valverde-Monge, Marcela, Quirce, Santiago, Caballero, María L., González-Barcala, Francisco J., Arismendi, Ebymar, Bobolea, Irina, Valero, Antonio, Muñoz, Xavier, Cruz, María Jesús, Martínez-Rivera, Carlos, Plaza, Vicente, Olaguibel, José M., del Pozo, Victoria
Publicado 2023