Casandra Riera
Directorate-General for Interpretation(BE)
Publications by Year
Research Areas
Genomics and Rare Diseases, RNA and protein synthesis mechanisms, Genomics and Phylogenetic Studies, Bioinformatics and Genomic Networks, Cancer Genomics and Diagnostics
Most-Cited Works
- → CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods(2024)54 cited
- → The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions(2016)46 cited
- → Molecular damage inFabry disease: Characterization and prediction of alpha‐galactosidaseApathological mutations(2014)24 cited
- → Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants(2019)20 cited
- → Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles(2013)20 cited
- → BRCA1 ‐ and BRCA2 ‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge(2019)15 cited
- → Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants(2018)7 cited
- → The Relationship between Gene Isoform Multiplicity, Number of Exons and Protein Divergence(2013)5 cited
- → Choosing Variant Interpretation Tools for Clinical Applications: Context Matters(2023)4 cited
- → Alternative Splicing as a Source of Phenotypic Differences Between Species: Protein-Level Mechanisms(2012)2 cited