Browsing by Author "Piscia, Davide"

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  • Atalaia, Antonio; Corvò, Alberto; Piscia, Davide; Matalonga, Leslie; Hernández Ferrer, Carles; Laurie, Steven, 1973-; Lochmüller, Hanns; Bonne, Gisèle (BioMed Central, 2020)
    Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...
  • 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; 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 (F1000Research, 2020)
    The COVID-19 pandemic has posed and is continuously posing enormous societal and health challenges worldwide. The research community has mobilized to develop novel projects to find a cure or a vaccine, as well as to ...
  • 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 (Elsevier, 2020)
    Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical genetic studies. More than 2400 exome sequencing data sets were analyzed and screened for autozygosity ...
  • 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 (Nature Research, 2023)
    Rare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced in obtaining a correct and timely diagnosis. According to Orphanet, 72.5% ...
  • Corvò, Alberto; Matalonga, Leslie; Laurie, Steven, 1973-; Picó-Amador, Daniel; Fernández Callejo, Marcos; Paramonov, Ida; Gut, Ivo Glynne; Piscia, Davide; Beltran, Sergi (Elsevier, 2023)
    The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation ...
  • 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 (Nature Research, 2021)
    Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and ...
  • 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 (Elsevier, 2022)
    Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive ...
  • 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 (Wiley, 2022)
    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, ...
  • Quintana, Isabel; Tonda, Raúl; Parra Farré, Genís; Piscia, Davide; Beltran, Sergi; Valle, Laura (Elsevier, 2023)

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