Smail Hadj-Rabia

This study shows that switching to the p63{beta} isoform can correct AEC syndrome mutations in human keratinocytes without disrupting skin homeostasis.

The paper shows that blood cell RNA analysis can detect the effects of OCA2 variants on exon skipping and mRNA levels, helping to reclassify variants of unknown significance as pathogenic.

The paper identifies a mutation in Cdc42 that causes a severe autoinflammatory syndrome by trapping the protein in the Golgi and disrupting its membrane interaction.