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, Raúl; Bayés, Mónica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean Remí; Alonso Sánchez, Ángel Miguel; 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 (Wiley, 2022)
Artículo / Artikulua 
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, ...
