Thomas Theil

This study shows that loss of INPP5E in human retinal organoids disrupts photoreceptor outer segment membrane biogenesis and alters protein localization.

The paper investigates how ASD mutations in CEP41 affect cortical neuron development in human organoids, finding altered cilia stability and changes in interneuron and projection neuron differentiation.

This study identifies Pappa and Sall3 as Gli3 target genes downstream of cilia signaling in corticogenesis, showing their regulation by Gli3 in the dorsal telencephalon.

The paper shows that 16p11.2 microdeletions increase developmental variability and prolong the cell cycle of human subpallial progenitors by lengthening their G1 phase in organoids.

This study shows that INPP5E negatively regulates Sonic Hedgehog signaling in human cortical organoids, promoting dorsal telencephalic identity and preventing ventralization.

This study shows that primary cilia regulate direct versus indirect neurogenesis in the developing cerebral cortex, with Inpp5e mutations causing increased direct neurogenesis and layer V neuron overproduction.