Audrey Putoux

This study identifies an RTTN mutation that impairs neural rosette formation in human cortical organoids, linking it to microcephaly-like defects.

This study investigates the molecular consequences of PQBP1 deficiency in Renpenning syndrome by analyzing gene expression and protein interactions, identifying dysregulated genes and a novel UPF3B isoform.

The paper identifies a mutation in RNU4ATAC causing ciliary defects in patients with TALS/RFMN/LWS and Joubert syndrome, linking minor splicing defects to ciliary dysfunction.

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.