Browsing by Author Piscia, Davide
Showing results 1 to 2 of 2
Issue Date | Title | Author(s) |
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1-Sep-2020 | Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity | Matalonga Borrel, Lesley; 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; Beltrán, Sergi; RD-Connect Genome-Phenome Analysis Platform and UR; Cormand Rifà, Bru; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser; Garrabou Tornos, Glòria |
May-2022 | Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases | Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou Tornos, Glòria; González, Juan R.; Grinberg Vaisman, Daniel Raúl; Guitart, Míriam; Laurie, Steven; Lázaro García, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano Ferrari, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis A.; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana |