Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

Many human birth defects and neurodevelopmental disorders are caused by loss-of-function
mutations in a single copy of transcription factor (TF) and chromatin regulator genes …

Advances in clinical diagnostics and molecular tools have improved our understanding of
the genetically heterogeneous causes underlying congenital anomalies of kidney and …

Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders
(NDDs) often carry disruptive mutations in genes that are depleted of functional variation in …

Aim We investigated neuropsychiatric outcomes in children with Noonan syndrome and
addressed limitations in previous research with a focus on prepubertal children, comparison …

hnRNPH2-related neurodevelopmental disorder (NDD) is caused by mutations in the
HNRNPH2 gene and is associated with substantial challenges, including developmental …

KCNQ2 and KCNQ3 pathogenic channel variants have been associated with a spectrum of
developmentally regulated diseases that vary in age of onset, severity, and whether it is …

Mounting evidence supports the role of the Ras/mitogen-activated protein kinase
(Ras/MAPK) pathway in neurodevelopmental disorders. Here, the authors used a genetics …

Mutations in the activity-dependent transcription factor MEF2C have been associated with
several neuropsychiatric disorders. Among these, autism spectrum disorder (ASD)-related …

Genomic studies are increasingly revealing that neurodevelopmental disorders are caused
by underlying genomic alterations. Chromosomal microarray testing has been used to …