Piperazine and piperidine triazole ureas as ultrapotent and highly selective inhibitors of monoacylglycerol lipase N Aaltonen, JR Savinainen, CR Ribas, J Rönkkö, A Kuusisto, J Korhonen, ... Chemistry & biology 20 (3), 379-390, 2013 | 111 | 2013 |
Dietary inflammatory index and all-cause mortality in large cohorts: The SUN and PREDIMED studies A Garcia-Arellano, MA Martínez-González, R Ramallal, J Salas-Salvadó, ... Clinical Nutrition 38 (3), 1221-1231, 2019 | 108 | 2019 |
The complementarity between protein‐specific and general pathogenicity predictors for amino acid substitutions C Riera, N Padilla, X de la Cruz Human mutation 37 (10), 1013-1024, 2016 | 47 | 2016 |
Molecular damage in F abry disease: Characterization and prediction of alpha‐galactosidase A pathological mutations C Riera, S Lois, C Dominguez, I Fernandez‐Cadenas, J Montaner, ... Proteins: Structure, Function, and Bioinformatics 83 (1), 91-104, 2015 | 34 | 2015 |
Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles C Riera, S Lois, X de la Cruz Wiley Interdisciplinary Reviews: Computational Molecular Science 4 (3), 249-268, 2014 | 27 | 2014 |
Brain regional cannabinoid CB1 receptor signalling and alternative enzymatic pathways for 2-arachidonoylglycerol generation in brain sections of diacylglycerol lipase deficient … N Aaltonen, CR Ribas, M Lehtonen, JR Savinainen, JT Laitinen European Journal of Pharmaceutical Sciences 51, 87-95, 2014 | 21 | 2014 |
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants MS Cline, G Babbi, S Bonache, Y Cao, R Casadio, X de la Cruz, O Díez, ... Human Mutation 40 (9), 1546-1556, 2019 | 19 | 2019 |
BRCA1‐ and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge N Padilla, A Moles‐Fernández, C Riera, G Montalban, S Özkan, L Ootes, ... Human mutation 40 (9), 1593-1611, 2019 | 16 | 2019 |
The relationship between gene isoform multiplicity, number of exons and protein divergence J Morata, S Béjar, D Talavera, C Riera, S Lois, GM de Xaxars, ... Plos one 8 (8), e72742, 2013 | 5 | 2013 |
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants S Brasil, F Leal, A Vega, R Navarrete, MJ Ecay, LR Desviat, C Riera, ... Orphanet Journal of Rare Diseases 13, 1-12, 2018 | 3 | 2018 |
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods N Null, S Jain, C Bakolitsa, SE Brenner, P Radivojac, J Moult, S Repo, ... Genome Biology 25 (1), 1-46, 2024 | 1 | 2024 |
Web-based bioinformatics predictors: Recommendations to assess lysosomal cholesterol trafficking diseases-related genes LL de Frutos, JJ Cebolla, P Irún, R Köhler, P Giraldo Methods of Information in Medicine 58 (01), 050-059, 2019 | 1 | 2019 |
Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic … S Jain, C Bakolitsa, EB Steven, P Radivojac, J Moult, S Repo, AH Roger, ... Genome Biology 22 (22; 25 (1): 53.), 1-46, 2024 | | 2024 |
Choosing variant interpretation tools for clinical applications: context matters J Aguirre, N Padilla, S Özkan, C Riera, L Feliubadaló, X De La Cruz International Journal of Molecular Sciences 24 (14), 11872, 2023 | | 2023 |
Front Cover, Volume 40, Issue 9 N Padilla, A Moles‐Fernández, C Riera, G Montalban, S Özkan, L Ootes, ... Human Mutation 40 (9), i-i, 2019 | | 2019 |
Alternative Splicing as a Source of Phenotypic Differences Between Species: Protein-Level Mechanisms J Morata, C Riera, X de la Cruz Evolutionary Biology: Mechanisms and Trends, 343-356, 2012 | | 2012 |