Neus Martínez‐Abadías

This study provides longitudinal cognitive and facial morphology data for CTNNB1 syndrome, showing stable global functioning and significant facial shape associations with behavioral issues.

The paper analyzes 3D facial phenotypes in a Colombian population with genetic disorders to identify unique facial patterns and ontogenic variations.

This study evaluates the effects of trisomy and GTE-EGCG treatment on multiple systems in a Down syndrome mouse model, finding that treatment exacerbates trisomic phenotypes rather than rescuing them.

This paper presents an automatic method to normalize and extract 3D facial meshes from head MRI scans, achieving high accuracy in orientation, alignment, and noise removal.

This study develops a method to trace the origins of phenotypic abnormalities by quantifying 3D gene expression patterns in developing organs, revealing subtle gene expression differences in Apert syndrome models.

This study shows EGCG treatment improves facial dysmorphology in DS mouse models and humans but warns against non-prescribed use due to variable outcomes.