Patrick Edery

This study surveys 3,000 French individuals to assess their knowledge and misconceptions about medical genetics, revealing limited understanding and significant gaps in awareness of genetic testing limitations and legal frameworks.

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.

The paper analyzes chromoanagenesis breakpoints in constitutional and cancer cases, finding enrichment in late-replicating chromatin and suggesting similar mechanisms for both.

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.