Examinant per Autoria "Piscia, Davide"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome(BioMed Central, 2020) Atalaia, Antonio; Corvò, Alberto; Piscia, Davide; Matalonga, Leslie; Hernández Ferrer, Carles; Laurie, Steven, 1973-; Lochmüller, Hanns; Bonne, Gisèle
Ítem Accés Obert From research to rapid response: mass COVID-19 testing by volunteers at the Centre for Genomic Regulation(F1000Research, 2020) Ghose, Ritobrata; Aranguren-Ibáñez, Álvaro; Arecco, Niccolò; Balboa, Diego; Bataller, Marc; Beltran, Sergi; Benisty, Hannah, 1986-; Bénard, Angèle; Bernardo, Edgar; Carbonell Sala, Silvia; Casals, Eloi; Ciampi, Ludovica; Condemi, Livia; Corvò, Alberto; Cosín Tomàs, Marta; Cuenca-Ardura, Mirabai; Duran Serrano, Juan Manuel; Espejo Díaz, María Isabel; Fernández Callejo, Marcos; Gañez-Zapater, Antoni; Garcia-Castellanos, Raquel; Garrido, Romina; Henkin, Gil; Hermoso Pulido, Antonio; Hernandez-Alias, Xavier; Herrero Vicente, Jorge; Ingham, Matthew; Lim, Wei Ming; Llonch, Sílvia; Marmesat Bertoli, Elena; Miguel Escalada, Irene; Montero-Blay, Ariadna, 1994-; Navarrete Hernández, Cristina; Neguembor, Maria Victoria; Ní Chárthaigh, Róisín-Ana; Pardo-Lorente, Natalia; Pascual-Reguant, Laura, 1990-; Pérez-Lluch, Sílvia; Perza, Reyes; Pesaresi, Martina, 1991-; Picó Amado, Daniel; Pifarré, Paula; Piscia, Davide; Plana-Carmona, Marcos; Ponomarenko, Julia; Radusky, Leandro; Rivero, Ezequiel; Rogalska, Malgorzata; Torcal Garcia, Guillem, 1991-; Wojnacki, José
Ítem Accés Obert Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity(Elsevier, 2020) Matalonga, Leslie; Laurie, Steven, 1973-; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis Alberto; Riess, Olaf; Gut, Ivo Glynne; van Ommen, Gert-Jan; Lochmüller, Hanns; Beltran, Sergi; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors
Ítem Accés Obert Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report(Nature Research, 2023) Lagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Köhler, Sebastian; Robinson, Peter N.; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana
Ítem Accés Obert Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases(Elsevier, 2023) Corvò, Alberto; Matalonga, Leslie; Laurie, Steven, 1973-; Picó-Amador, Daniel; Fernández Callejo, Marcos; Paramonov, Ida; Gut, Ivo Glynne; Piscia, Davide; Beltran, Sergi
Ítem Accés Obert Solving patients with rare diseases through programmatic reanalysis of genome-phenome data(Nature Research, 2021) 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
Ítem Accés Obert Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases(Elsevier, 2022) 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
Ítem Desconegut The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases(Wiley, 2022) 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
Ítem Desconegut Wnt genes in colonic polyposis predisposition(Elsevier, 2023) Quintana, Isabel; Tonda, Raúl; Parra Farré, Genís; Piscia, Davide; Beltran, Sergi; Valle, Laura