Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1

por Piniella, Dolores, Canseco, Ania, Vidal, Silvia, Xiol, Clara, Díaz de Bustamante, Aránzazu, Martí-Carrera, Itxaso, Armstrong, Judith, Bastolla, Ugo, Zafra, Francisco
Publicado 2023

Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome

por Gil-Salvador, Marta, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Arnedo, María, Darnaude, María Teresa, Díaz de Bustamante, Aránzazu, Villares, Rebeca, Palma Milla, Carmen, Puisac, Beatriz, Musio, Antonio, Ramos, Feliciano J., Pié, Juan
Publicado 2022

Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing

por Toma, Claudio, Díaz-Gay, Marcos, Soares de Lima, Yasmin, Arnau-Collell, Coral, Franch-Expósito, Sebastià, Muñoz, Jenifer, Overs, Bronwyn, Bonjoch, Laia, Carballal, Sabela, Ocaña, Teresa, Cuatrecasas, Miriam, Díaz de Bustamante, Aránzazu, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Balaguer, Francesc, Rodríguez-Alcalde, Daniel, Fullerton, Janice M., Castellví-Bel, Sergi
Publicado 2019

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome

por Soares de Lima, Yasmin, Arnau-Collell, Coral, Díaz-Gay, Marcos, Bonjoch, Laia, Franch-Expósito, Sebastià, Muñoz, Jenifer, Moreira, Leticia, Ocaña, Teresa, Cuatrecasas, Miriam, Herrera-Pariente, Cristina, Carballal, Sabela, Moreno, Lorena, Díaz de Bustamante, Aránzazu, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Rodríguez-Alcalde, Daniel, Balaguer, Francesc, Castellví-Bel, Sergi
Publicado 2021

Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

por Arnau-Collell, Coral, Soares de Lima, Yasmin, Díaz-Gay, Marcos, Muñoz, Jenifer, Carballal, Sabela, Bonjoch, Laia, Moreira, Leticia, Lozano, Juan José, Ocaña, Teresa, Cuatrecasas, Miriam, Díaz de Bustamante, Aranzazu, Castells, Antoni, Capellà, Gabriel, Bujanda, Luis, Cubiella, Joaquin, Rodríguez-Alcalde, Daniel, Balaguer, Francesc, Ruiz-Ponte, Clara, Valle, Laura, Moreno, Victor, Castellvi-Bel, Sergi
Publicado 2020

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

por Mademont-Soler, Irene, Mates, Jesus, Yotti, Raquel, Espinosa, Maria Angeles, Pérez-Serra, Alexandra, Fernandez-Avila, Ana Isabel, Coll, Monica, Méndez, Irene, Iglesias, Anna, del Olmo, Bernat, Riuró, Helena, Cuenca, Sofía, Allegue, Catarina, Campuzano, Oscar, Picó, Ferran, Ferrer-Costa, Carles, Álvarez, Patricia, Castillo, Sergio, Garcia-Pavia, Pablo, Gonzalez-Lopez, Esther, Padron-Barthe, Laura, Díaz de Bustamante, Aranzazu, Darnaude, María Teresa, González-Hevia, José Ignacio, Brugada, Josep, Fernandez-Aviles, Francisco, Brugada, Ramon
Publicado 2017

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

por Soares de Lima, Yasmin, Arnau-Collell, Coral, Muñoz, Jenifer, Herrera-Pariente, Cristina, Moreira, Leticia, Ocaña, Teresa, Díaz-Gay, Marcos, Franch-Expósito, Sebastià, Cuatrecasas, Miriam, Carballal, Sabela, Lopez-Novo, Anael, Moreno, Lorena, Fernàndez, Guerau, Díaz de Bustamante, Aranzazu, Peters, Sophia, Sommer, Anna K, Spier, Isabel, te Paske, Iris B A W, van Herwaarden, Yasmijn J, Castells, Antoni, Bujanda, Luis, Capellà, Gabriel, Steinke-Lange, Verena, Mahmood, Khalid, Joo, JiHoon Eric, Arnold, Julie, Parry, Susan, Macrae, Finlay A, Winship, Ingrid M, Rosty, Christophe, Cubiella, Joaquin, Rodríguez-Alcalde, Daniel, Holinski-Feder, Elke, de Voer, Richarda, Buchanan, Daniel D, Aretz, Stefan, Ruiz-Ponte, Clara, Valle, Laura, Balaguer, Francesc, Bonjoch, Laia, Castellvi-Bel, Sergi
Publicado 2023

Novel genes and sex differences in COVID-19 severity

por Cruz, Raquel, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C, Pita, Guillermo, Lorenzo-Salazar, José M, González-Montelongo, Rafaela, Gago-Domínguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Nevado, Julian, Aguado, Jose María, Aguilar, Carlos, Aguilera-Albesa, Sergio, Almadana, Virginia, Almoguera, Berta, Alvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, Arango, Celso, Arranz, María J, Artiga, Maria-Jesus, Baptista-Rosas, Raúl C, Barreda-Sánchez, María, Belhassen-Garcia, Moncef, Bezerra, Joao F, Bezerra, Marcos A C, Boix-Palop, Lucía, Brion, María, Brugada, Ramón, Bustos, Matilde, Calderón, Enrique J, Carbonell, Cristina, Castano, Luis, Castelao, Jose E, Conde-Vicente, Rosa, Cordero-Lorenzana, M Lourdes, Cortes-Sanchez, Jose L, Corton, Marta, Darnaude, M Teresa, De Martino-Rodríguez, Alba, del Campo-Pérez, Victor, Diaz de Bustamante, Aranzazu, Domínguez-Garrido, Elena, Luchessi, Andre D, Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Carmen Fariñas, María, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gil-Fournier, Belén, Gómez-Arrue, Javier, González Álvarez, Beatriz, Gonzalez Bernaldo de Quirós, Fernan, González-Peñas, Javier, Gutiérrez-Bautista, Juan F, Herrero, María José, Herrero-Gonzalez, Antonio, Jimenez-Sousa, María A, Lattig, María Claudia, Liger Borja, Anabel, Lopez-Rodriguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martinez-Nieto, Oscar, Martinez-Lopez, Iciar, Martinez-Resendez, Michel F, Martinez-Perez, Angel, Mazzeu, Juliana F, Merayo Macías, Eleuterio, Minguez, Pablo, Moreno Cuerda, Victor, Silbiger, Vivian N, Oliveira, Silviene F, Ortega-Paino, Eva, Parellada, Mara, Paz-Artal, Estela, Santos, Ney P C, Pérez-Matute, Patricia, Perez, Patricia, Pérez-Tomás, M Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N, Porras-Hurtado, Gloria L, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R, Rodríguez-Ruiz, Emilio, Rodriguez-Artalejo, Fernando, Rodriguez-Garcia, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Tamayo, Eduardo, Tamayo-Velasco, Alvaro, Taracido-Fernandez, Juan Carlos, Teper, Alejandro, Torres-Tobar, Lilian, Urioste, Miguel, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Pigazzini, Sara, Degenhardt, Frauke, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Amitrano, Sara, Roade, Luisa, Fava, Francesca, Spinner, Christoph D, Prati, Daniele, Bernardo, David, Garcia, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Holter, Jan Cato, Banales, Jesus M, Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C, Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, Hov, Johannes R, Migeotte, Isabelle, Renieri, Alessandra, Planas, Anna M, Ludwig, Kerstin U, Buti, Maria, Rahmouni, Souad, Alarcón-Riquelme, Marta E, Schulte, Eva C, Franke, Andre, Karlsen, Tom H, Valenti, Luca, Zeberg, Hugo, Richards, Brent, Ganna, Andrea, Boada, Mercè, de Rojas, Itziar, Ruiz, Agustín, Sánchez-Juan, Pascual, Real, Luis Miguel, Guillen-Navarro, Encarna, Ayuso, Carmen, González-Neira, Anna, Riancho, José A, Rojas-Martinez, Augusto, Flores, Carlos, Lapunzina, Pablo, Carracedo, Angel
Publicado 2022