Marianne Victoria Lemée

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

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

RanBP2-dependent annulate lamellae drive nuclear pore assembly and nuclear expansion

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

Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant

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.