Sara Álvarez

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

This paper describes the clinical and molecular features of 67 new KBG syndrome patients, identifies genotype-phenotype correlations, and proposes updated diagnostic criteria.

Functional and structural deficiencies of Gemin5 variants associated with neurological disease

The paper identifies functional and structural defects in Gemin5 variants linked to neurodevelopmental disorders, showing impaired dimerization and protein instability.

PhenoExam: an R package and Web application for the examination of phenotypes linked to genes and gene sets

PhenoExam is an R package and web tool that performs phenotype and disease enrichment analysis on gene sets, detecting significant phenotypic similarities and differences across databases.