A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

por Torrado, Mario, Fernández, Germán, Ganoza, Christian A., Maneiro, Emilia, García, Diego, Sonicheva-Paterson, Natalia, Rosa, Isaac, Ochoa, Juan Pablo, Santomé, Luis, Vasichkina, Elena, Monserrat, Lorenzo
Publicado 2021

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

por Torrado, Mario, Maneiro, Emilia, Lamounier Junior, Arsonval, Fernández-Burriel, Miguel, Sánchez Giralt, Sara, Martínez-Carapeto, Ana, Cazón, Laura, Santiago, Elisa, Ochoa, Juan Pablo, McKenna, William J., Santomé, Luis, Monserrat, Lorenzo
Publicado 2022

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

por Montalván‐Suárez, Martha, Esperón‐Moldes, Uxia Saraiva, Rodríguez‐Pazos, Laura, Ordóñez‐Ugalde, Andrés, Moscoso, Fernanda, Ugalde‐Noritz, Nora, Santomé, Luis, Fachal, Laura, Tettamanti‐Miranda, Daniel, Ruiz, Juan Carlos, Ginarte, Manuel, Vega, Ana
Publicado 2019

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

por Salazar-Mendiguchía, Joel, Ochoa, Juan Pablo, Palomino-Doza, Julian, Domínguez, Fernando, Díez-López, Carles, Akhtar, Mohammed, Ramiro-León, Soraya, Clemente, María M, Pérez-Cejas, Antonia, Robledo, María, Gómez-Díaz, Iria, Peña-Peña, María Luisa, Climent, Vicente, Salmerón-Martínez, Francisco, Hernández, Celestino, García-Granja, Pablo E, Mogollón, M Victoria, Cárdenas-Reyes, Ivonne, Cicerchia, Marcos, García-Giustiniani, Diego, Lamounier Jr., Arsonval, Gil-Fournier, Belén, Díaz-Flores, Felícitas, Salguero, Rafael, Santomé, Luis, Syrris, Petros, Olivé, Montse, García-Pavía, Pablo, Ortiz-Genga, Martín, Elliott, Perry M., Monserrat, Lorenzo
Publicado 2020