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Human Mutation|July 12, 2016
The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid SubstitutionsCasandra Riera, Natàlia Padilla, Xavier de la CruzEuropean Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences|September 10, 2013
Brain regional cannabinoid CB(1) receptor signalling and alternative enzymatic pathways for 2-arachidonoylglycerol generation in brain sections of diacylglycerol lipase deficient miceNiina Aaltonen, Casandra Riera Ribas, Marko Lehtonen, et al.International Journal of Molecular Sciences|July 29, 2023
Choosing Variant Interpretation Tools for Clinical Applications: Context MattersJosu Aguirre, Natàlia Padilla, Selen Özkan, et al.Plos One|September 12, 2013
The relationship between gene isoform multiplicity, number of exons and protein divergenceJordi Morata, Santi Béjar, David Talavera, et al.Proteins|November 11, 2014
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutationsCasandra Riera, Sergio Lois, Carmen Domínguez, et al.Human Mutation|May 22, 2019
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challengeNatàlia Padilla, Alejandro Moles-Fernández, Casandra Riera, et al.Chemistry & Biology|March 26, 2013
Piperazine and piperidine triazole ureas as ultrapotent and highly selective inhibitors of monoacylglycerol lipaseNiina Aaltonen, Juha R Savinainen, Casandra Riera Ribas, et al.Orphanet Journal of Rare Diseases|July 26, 2018
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsSandra Brasil, Fátima Leal, Ana Vega, et al.Human Mutation|July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsMelissa S Cline, Giulia Babbi, Sandra Bonache, et al.Pageof 1