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El repositori institucional recull, difon i preserva la producció intel·lectual en format digital que resulta de l’activitat acadèmica i investigadora de la UPF, les revistes científiques i les publicacions institucionals. La seva finalitat és contribuir a augmentar l’impacte de la investigació feta a la UPF i preservar la memòria intel·lectual de la UPF.

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Enviaments recents

From "Black girl" to "Roma": domestic workers and the intersection of race/ethnicity, class, and gender

Yurdakul, Aslihan (Wiley, 2022)

Despite attempts in the last decade to improve the conditions of paid domestic work, it remains a low- status job that is poorly paid, and domestic workers are exposed to exploitation across the world. This article ...
Approximate Laplace approximations for scalable model selection

Rossell Ribera, David; Abril Pla, Oriol; Bhattacharya, Anirban (Wiley, 2021)

We propose the approximate Laplace approximation (ALA) to evaluate integrated likelihoods, a bottleneck in Bayesian model selection. The Laplace approximation (LA) is a popular tool that speeds up such computation and ...
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)

Since its launch in 2008, the European Genome-Phenome Archive (EGA) has been leading the archiving and distribution of human identifiable genomic data. In this regard, one of the community concerns is the potential usability ...
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)

Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The ...
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)

Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with ...