Julie Désir

A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.

A randomized trial compares genome sequencing to standard of care in diagnosing developmental disorders, finding higher diagnostic yield with genome sequencing.

The microcephaly gene ASPM is required for the timely generation of human outer-radial glia progenitors by controlling mitotic spindle orientation

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