Pilar Caro

The paper identifies distinct mechanisms of CNV formation at the human 15q13.3 locus, showing that non-allelic homologous recombination is the primary mechanism, influenced by inversion polymorphisms and population-specific susceptibility.

This study analyzes 11 USP7 variants in Hao-Fountain syndrome, showing they affect enzyme activity, stability, and substrate recognition, with some variants responsive to an allosteric activator.

EAGER establishes a registry of autistic individuals and those with rare genetic conditions for genomic and phenotypic research, aiming to improve clinical trials and health outcomes through data sharing.

This study reports on 32 novel patients with Hao-Fountain syndrome, expanding the clinical understanding of the disorder and identifying new phenotypic features and genotype-phenotype correlations.

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.