Christelle Golzio

The paper analyzes the structural and functional interactions of HERC2/UBE3A and HERC2/DOCK10 complexes to understand their role in Angelman and Dup15q Syndromes.

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

The paper identifies RanBP2-dependent annulate lamellae as a distinct pathway for nuclear pore assembly and nuclear expansion in somatic cells.

The paper identifies CHD1L as a key regulator of neurodevelopmental processes, showing its role in shaping neuroanatomical and growth phenotypes linked to 1q21.1 copy number variants.

The paper identifies molecular pathways associated with neurodevelopmental disorder subgroups using neuroimaging data from mice and humans.

The paper identifies de novo frameshift variants in NOVA2 causing a severe neurodevelopmental disorder with intellectual disability and autistic features, and shows altered RNA splicing and functional deficits.