Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within Tumors

por Garcia-Linares, Carles, Mercadé, Jaume, Gel, Bernat, Biayna, Josep, Terribas, Ernest, Lázaro, Conxi, Serra, Eduard
Publicado 2012

Dissecting Loss of Heterozygosity (LOH) in Neurofibromatosis Type 1-Associated Neurofibromas: Importance of Copy Neutral LOH

por Garcia-Linares, Carles, Fernández-Rodríguez, Juana, Terribas, Ernest, Mercadé, Jaume, Pros, Eva, Benito, Llúcia, Benavente, Yolanda, Capellà, Gabriel, Ravella, Anna, Blanco, Ignacio, Kehrer-Sawatzki, Hildegard, Lázaro, Conxi, Serra, Eduard
Publicado 2011

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

por Matalonga, Leslie, Hernández-Ferrer, Carles, Piscia, Davide, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, Vissers, Lisenka E. L. M., de Voer, Richarda, Tonda, Raul, Laurie, Steven, Fernandez-Callejo, Marcos, Picó, Daniel, Garcia-Linares, Carles, Papakonstantinou, Anastasios, Corvó, Alberto, Joshi, Ricky, Diez, Hector, Gut, Ivo, Hoischen, Alexander, Graessner, Holm, Beltran, Sergi
Publicado 2021

The European Genome-phenome Archive in 2021

por Freeberg, Mallory Ann, Fromont, Lauren A, D’Altri, Teresa, Romero, Anna Foix, Ciges, Jorge Izquierdo, Jene, Aina, Kerry, Giselle, Moldes, Mauricio, Ariosa, Roberto, Bahena, Silvia, Barrowdale, Daniel, Barbero, Marcos Casado, Fernandez-Orth, Dietmar, Garcia-Linares, Carles, Garcia-Rios, Emilio, Haziza, Frédéric, Juhasz, Bela, Llobet, Oscar Martinez, Milla, Gemma, Mohan, Anand, Rueda, Manuel, Sankar, Aravind, Shaju, Dona, Shimpi, Ashutosh, Singh, Babita, Thomas, Coline, de la Torre, Sabela, Uyan, Umuthan, Vasallo, Claudia, Flicek, Paul, Guigo, Roderic, Navarro, Arcadi, Parkinson, Helen, Keane, Thomas, Rambla, Jordi
Publicado 2021

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

por Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández‐Callejo, Marcos, Garcia‐Linares, Carles, Hernandez‐Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó‐Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps‐Puchadas, Jordi, Paramonov, Ida, Trotta, Jean‐Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros‐Facer, Virginie, Buske, Orion J., Cañada‐Pallarés, Andrés, Fernández, José M., Hansson, Mats G., Horvath, Rita, Jacobsen, Julius O.B., Kaliyaperumal, Rajaram, Lair‐Préterre, Séverine, Licata, Luana, Lopes, Pedro, López‐Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez‐Jurado, Luis A., Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N., Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter A. C., Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G., Lochmüller, Hanns, Beltran, Sergi
Publicado 2022