Nadia Bahi‐Buisson

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

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.

Differential contribution of P73+ Cajal-Retzius cells and Reelin to cortical morphogenesis

The paper investigates the role of P73+ Cajal-Retzius cells and Reelin in cortical morphogenesis, finding that CRs-derived Reelin is essential for radial migration arrest, while CRs also have Reelin-independent functions in hippocampal progenitor proliferation and vessel remodelling.

Capturing the biology of disease severity in an organoid model of LIS1-lissencephaly

This study uses LIS1-lissencephaly patient organoids to identify severity-dependent phenotypes and molecular mechanisms, and demonstrates that mTOR inhibitors can rescue disease-related changes.

Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly

This study shows that WDR81 loss of function disrupts endosomal trafficking of EGFR, reduces MAP kinase activation, and causes microcephaly by impairing radial glial progenitor proliferation.

Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

This study functionally characterizes RELN missense mutations in both recessive and dominant neuronal migration disorders, showing a genotype-phenotype correlation.

MINPP1 prevents intracellular accumulation of the cation chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

This study identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.