Christèle Dubourg

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

This study maps the temporal and functional landscape of Sonic Hedgehog signaling in human forebrain development using stem cell models and identifies new markers of regionalization.

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

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.

This study shows that adenine base editors can correct 41% of GLB1 pathogenic SNVs in patient-derived fibroblasts, restoring β-gal activity without significant off-target effects.

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

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 novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

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