Selen Özkan
Universitat Autònoma de Barcelona(ES)Vall d'Hebron Institut de Recerca(ES)
Publications by Year
Research Areas
Genomics and Rare Diseases, RNA and protein synthesis mechanisms, Genomics and Phylogenetic Studies, Genetic Associations and Epidemiology, CRISPR and Genetic Engineering
Most-Cited Works
- → CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods(2024)54 cited
- → Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants(2019)20 cited
- → BRCA1 ‐ and BRCA2 ‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge(2019)15 cited
- → The computational approach to variant interpretation(2021)9 cited
- → Polygenic analysis suggests the involvement of calcium signaling in executive function in schizophrenia patients(2018)8 cited
- → Choosing Variant Interpretation Tools for Clinical Applications: Context Matters(2023)4 cited
- → Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A(2024)3 cited
- → Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants(2021)1 cited
- → QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning(2024)1 cited