Maggie M. K. Wong

Expression and regulation of SETBP1 in the song system of male zebra finches (Taeniopygia guttata) during singing

This study examines SETBP1 expression and regulation in zebra finch brain regions associated with singing, finding higher expression in solo singing and a regulatory role on FoxP2.

The chromatin remodeler CHD3 is highly expressed in mature neurons and regulates genes involved in synaptic development and function

This study investigates the role of CHD3 in human brain development using genetically modified organoids, finding it regulates synaptic development genes without affecting early neurogenesis.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.