Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

por Matalonga, Leslie, Laurie, Steven, Papakonstantinou, Anastasios, Piscia, Davide, Mereu, Elisabetta, Bullich, Gemma, Thompson, Rachel, Horvath, Rita, Pérez-Jurado, Luis, Riess, Olaf, Gut, Ivo, van Ommen, Gert-Jan, Lochmüller, Hanns, Beltran, Sergi
Publicado 2020

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

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

por Corvò, Alberto, Matalonga, Leslie, Spalding, Dylan, Senf, Alexander, Laurie, Steven, Picó-Amador, Daniel, Fernandez-Callejo, Marcos, Paramonov, Ida, Romero, Anna Foix, Garcia-Rios, Emilio, Ciges, Jorge Izquierdo, Mohan, Anand, Thomas, Coline, Silva Valencia, Andres Felipe, Halmagyi, Csaba, Freeberg, Mallory Ann, Töpf, Ana, Horvath, Rita, Saunders, Gary, Gut, Ivo, Keane, Thomas, Piscia, Davide, Beltran, Sergi
Publicado 2023

Wnt genes in colonic polyposis predisposition

por Quintana, Isabel, Terradas, Mariona, Mur, Pilar, te Paske, Iris B.A.W., Peters, Sophia, Spier, Isabel, Steinke-Lange, Verena, Maestro, Claudia, Torrents, David, Puiggròs, Montserrat, Royo, Romina, Tonda, Raul, Parra, Genís, Piscia, Davide, Beltrán, Sergi, Navarro, Matilde, Piñol, Virginia, Brunet, Joan, Gonzalez-Abuin, Noemi, Aiza, Gemma, Sommer, Anna, van Herwaarden, Yasmijn, Astuti, Galuh, Holinski-Feder, Elke, Hoogerbrugge, Nicoline, de Voer, Richarda M., Aretz, Stefan, Capellá, Gabriel, Valle, Laura
Publicado 2022

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

por Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Rheinard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Publicado 2020

Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome

por Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Publicado 2021

From research to rapid response: mass COVID-19 testing by volunteers at the Centre for Genomic Regulation

por Ghose, Ritobrata, Aranguren-Ibáñez, Álvaro, Arecco, Niccolò, Balboa, Diego, Bataller, Marc, Beltran, Sergi, Benisty, Hannah, Bénard, Angèle, Bernardo, Edgar, Carbonell Sala, Sílvia, Casals, Eloi, Ciampi, Ludovica, Condemi, Livia, Corvó, Alberto, Cosín-Tomás, Marta, Cuenca-Ardura, Mirabai, Duran Serrano, Juan Manuel, Espejo Díaz, María Isabel, Fernandez Callejo, Marcos, Gañez-Zapater, Antoni, Garcia-Castellanos, Raquel, Garrido, Romina, Henkin, Gil, Hermoso Pulido, Toni, Hernandez-Alias, Xavier, Herrero Vicente, Jorge, Ingham, Matthew, Lim, Wei Ming, Llonch, Sílvia, Marmesat Bertoli, Elena, Miguel-Escalada, Irene, Montero-Blay, Ariadna, Navarrete Hernández, Cristina, Neguembor, Maria Victoria, Ní Chárthaigh, Róisín-Ana, Pardo-Lorente, Natalia, Pascual-Reguant, Laura, Pérez-Lluch, Sílvia, Perza, Reyes, Pesaresi, Martina, Picó Amador, Daniel, Pifarré, Paula, Piscia, Davide, Plana-Carmona, Marcos, Ponomarenko, Julia, Radusky, Leandro, Rivero, Ezequiel, Rogalska, Malgorzata, Torcal Garcia, Guillem, Wojnacki, José
Publicado 2020

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