Francisco Bustos

Therapeutic validation and targeting of signalling networks that are dysregulated in intellectual disability.

variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

Chromatin targeting of the RNF12/RLIM E3 ubiquitin ligase controls transcriptional responses.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.