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Welcome to the UPF Digital Repository

The institutional repository collects, disseminates and preserves, in digital form, the intellectual output that results from the academic and research activity of the UPF and also the scientific magazines and the institutional publications. Its purpose is to increase the impact of research done at the UPF and its intellectual memory.

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A quality control portal for sequencing data deposited at the European genome-phenome archive

Fernández-Orth, Dietmar; Rueda, Manuel; Singh, Babita, 1986-; Moldes, Mauricio; Jene, Aina; Ferri, Marta; Vasallo, Claudia; Fromont, Lauren A.; Navarro i Cuartiellas, Arcadi, 1969-; Rambla de Argila, Jordi (Oxford University Press, 2022)
New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

Corral Juan, Marc; Casquero, Pilar; Giraldo-Restrepo, Natalia; Laurie, Steven, 1973-; Martinez-Piñeiro, Alicia; Mateo-Montero, Raidili Cristina; Ispierto, Lourdes; Vilas, Dolores; Tolosa, Eduard; Volpini, Victor; Alvarez-Ramo, Ramiro; Sánchez, Ivelisse; Matilla Dueñas, Antoni (Oxford University Press, 2022)
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

van der Knoop, Marieke M.; Lochmüller, Hanns; Houlden, Henry (Oxford University Press, 2022)
Integrated in silico analyses identify PUF60 and SF3A3 as new spliceosome-related breast cancer RNA-binding proteins

García-Cárdenas, Jennyfer M.; Armendáriz-Castillo, Isaac; Pérez-Villa, Andy; Indacochea Cusirramos, Alberto; Jácome-Alvarado, Andrea; López-Cortés, Andrés; Guerrero, Santiago (MDPI, 2022)
A new variant of the aadE-sat4-aphA-3 gene cluster found in a conjugative plasmid from a MDR campylobacter jejuni isolate

Guirado, Pedro; Miró, Elisenda (MDPI, 2022)