Sandrine Passemard

This study shows ASPM mutations disrupt mitotic spindle orientation in human cortical progenitors, leading to premature oRGC generation and reduced cortical progenitor numbers.

The paper shows that CBP/EP300 acetylates and stabilizes HSF2, which is disrupted in Rubinstein-Taybi syndrome, leading to impaired heat shock response.

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

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

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