Peggy Tilly

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.

Bi-allelic variants in WDR47 lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans.

The paper identifies bi-allelic WDR47 variants as a cause of a neurodevelopmental syndrome with corpus callosum dysgenesis and associated neuroanatomical abnormalities.

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis via actomyosin dynamics deregulations

This study shows that Dyrk1a regulates interneuron migration via actomyosin dynamics, leading to cortical GABAergic system defects and phenotypes seen in DYRK1A-haploinsufficiency syndrome.

The kinesin Kif21b regulates radial migration of cortical projection neurons through a noncanonical function on actin cytoskeleton.

This study identifies a noncanonical role of Kif21b in regulating actin cytoskeleton dynamics during radial migration of cortical projection neurons in mice.