Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder von Thompson, Rachel, Papakonstantinou Ntalis, Anastasios, Beltran, Sergi, Töpf, Ana, Paula Estephan, Eduardo, Polavarapu, Kiran, ’t Hoen, Peter A. C., Missier, Paolo, Lochmüller, Hanns

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

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Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases von Bullich, Gemma, Matalonga, Leslie, Pujadas, Montserrat, Papakonstantinou Ntalis, Anastasios, Piscia, Davide, Tonda, Raúl, González, Juan Ramón, Laurie, Steven, 1973, Luengo, Cristina, Ovelleiro, David, Parra Farré, Genís, Pérez Jurado, Luis Alberto, Beltran, Sergi, Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium

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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases von Laurie, Steven, 1973, Piscia, Davide, Matalonga, Leslie, Corvò, Alberto, Fernández Callejo, Marcos, Garcia-Linares, Carles, Hernandez-Ferrer, Carles, 1987, Luengo, Cristina, Martínez, Inés, Papakonstantinou Ntalis, Anastasios, Picó-Amador, Daniel, Protasio, Joan, Tonda, Raúl, Bayés, Mònica, Bullich, Gemma, Camps-Puchadas, Jordi, Paramonov, Ida, Trotta, Jean-Remi, Pérez Jurado, Luis Alberto, Rambla de Argila, Jordi, Gut, Ivo Glynne, Lochmüller, Hanns, Beltran, Sergi

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data von Matalonga, Leslie, Hernández Ferrer, Carles, Piscia, Davide, Tonda, Raúl, Laurie, Steven, 1973, Fernández Callejo, Marcos, Picó, Daniel, Garcia-Linares, Carles, Papakonstantinou Ntalis, Anastasios, Corvò, Alberto, Joshi, Ricky S, Diez, Hector, Gut, Ivo Glynne, Beltran, Sergi, Solve-RD Consortium

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Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder von Thompson, Rachel, Papakonstantinou Ntalis, Anastasios, Beltran, Sergi, Topf, Ana, de Paula Estephan, Eduardo, Poloavarapu, Kiran, Hoen, Peter A. C, Missier, Paolo, Lochmüller, Hanns

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