Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene

por Diñeiro, Marta, Cifuentes, Guadalupe A., Capín, Raquel, Santiago, Adrián, Otero, Andrea, Castillo, David, Pruneda, Patricia C., Ordóñez, Gonzalo R., Cabanillas, Rubén, Cadiñanos, Juan
Publicado 2019

A novel molecular diagnostics platform for somatic and germline precision oncology

por Cabanillas, Rubén, Diñeiro, Marta, Castillo, David, Pruneda, Patricia C., Penas, Cristina, Cifuentes, Guadalupe A., de Vicente, Álvaro, Durán, Noelia S., Álvarez, Rebeca, Ordóñez, Gonzalo R., Cadiñanos, Juan
Publicado 2017

Hyperinflammatory Immune Response in COVID-19: Host Genetic Factors in Pyrin Inflammasome and Immunity to Virus in a Spanish Population from Majorca Island

por Martínez-Pomar, Natalia, Cunill, Vanesa, Segura-Guerrero, Marina, Pol-Pol, Elisabet, Escobar Oblitas, Danilo, Pons, Jaime, Ayestarán, Ignacio, Pruneda, Patricia C., Losada, Inés, Toledo-Pons, Nuria, García Gasalla, Mercedes, Ferrer Balaguer, Joana Maria
Publicado 2023

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

por Diñeiro, Marta, Capín, Raquel, Cifuentes, Guadalupe Á., Fernández‐Vega, Beatriz, Villota, Eva, Otero, Andrea, Santiago, Adrián, Pruneda, Patricia C., Castillo, David, Viejo‐Díaz, Mónica, Hernando, Inés, Durán, Noelia S., Álvarez, Rebeca, Lago, Claudia G., Ordóñez, Gonzalo R., Fernández‐Vega, Álvaro, Cabanillas, Rubén, Cadiñanos, Juan
Publicado 2020

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

por Cabanillas, Rubén, Diñeiro, Marta, Cifuentes, Guadalupe A., Castillo, David, Pruneda, Patricia C., Álvarez, Rebeca, Sánchez-Durán, Noelia, Capín, Raquel, Plasencia, Ana, Viejo-Díaz, Mónica, García-González, Noelia, Hernando, Inés, Llorente, José L., Repáraz-Andrade, Alfredo, Torreira-Banzas, Cristina, Rosell, Jordi, Govea, Nancy, Gómez-Martínez, Justo Ramón, Núñez-Batalla, Faustino, Garrote, José A., Mazón-Gutiérrez, Ángel, Costales, María, Isidoro-García, María, García-Berrocal, Belén, Ordóñez, Gonzalo R., Cadiñanos, Juan
Publicado 2018

Chromatin regulation by Histone H4 acetylation at Lysine 16 during cell death and differentiation in the myeloid compartment

por Urdinguio, Rocio G, Lopez, Virginia, Bayón, Gustavo F, Diaz de la Guardia, Rafael, Sierra, Marta I, García-Toraño, Estela, Perez, Raúl F, García, María G, Carella, Antonella, Pruneda, Patricia C, Prieto, Cristina, Dmitrijeva, Marija, Santamarina, Pablo, Belmonte, Thalía, Mangas, Cristina, Diaconu, Elena, Ferrero, Cecilia, Tejedor, Juan Ramón, Fernandez-Morera, Juan Luis, Bravo, Cristina, Bueno, Clara, Sanjuan-Pla, Alejandra, Rodriguez, Ramon M, Suarez-Alvarez, Beatriz, López-Larrea, Carlos, Bernal, Teresa, Colado, Enrique, Balbín, Milagros, García-Suarez, Olivia, Chiara, María Dolores, Sáenz-de-Santa-María, Inés, Rodríguez, Francisco, Pando-Sandoval, Ana, Rodrigo, Luis, Santos, Laura, Salas, Ana, Vallejo-Díaz, Jesús, C. Carrera, Ana, Rico, Daniel, Hernández-López, Inmaculada, Vayá, Amparo, Ricart, José M, Seto, Edward, Sima-Teruel, Núria, Vaquero, Alejandro, Valledor, Luis, Cañal, Maria Jesus, Pisano, David, Graña-Castro, Osvaldo, Thomas, Tim, Voss, Anne K, Menéndez, Pablo, Villar-Garea, Ana, Deutzmann, Rainer, Fernandez, Agustín F, Fraga, Mario F
Publicado 2019