Mathilde Lefebvre

This study compares postnatal maturation of the gliovascular unit in male and female mice, revealing sex-specific differences in angiogenesis, cell composition, and transcriptomic trajectories regulated by oestrogenic signalling.

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

This study shows that Amyloid Precursor Protein (APP) is required for human neural stem cells to maintain a progenitor state during prolonged neurogenesis, unlike mouse NSCs where APP is dispensable.

The paper examines how assortative mating and parental genetic relatedness influence the pathogenicity of variably expressive variants in neurodevelopmental disorders.

The paper shows that rare secondary mutations in functionally intolerant genes affect the expressivity of neurodevelopmental disorders in individuals with primary mutations.