Yoeri Sleyp

This paper uses 3D facial morphometry to analyze facial shape changes in Cri-du-Chat syndrome and related genetic conditions, identifying genotype-phenotype correlations and critical genomic regions.

The paper identifies AIP as a regulator that links mTORC1 activation with catabolic metabolism during neonatal development, ensuring metabolic adaptation and survival.

This study shows that biallelic AIP loss causes a severe pediatric disease with proteostasis defects, observed in human and zebrafish models.

This study identifies shared genetic loci influencing brain and facial shape, distinct from cognitive traits, suggesting a developmental link between brain and face formation.