H. Goel

AI-Guided Systems Neurogenomics in Neurodevelopmental Disorders

A hypothesis-generating load-capacity framework comprising regulatory load, network capacity, developmental buffering and regulatory network instability is proposed, and the Instability Twin is described as a prospective architecture composed of independently testable patient-specific sub-models rather than an existing...

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Variants in BRSK2, encoding brain specific kinase-2, have recently been associated with an autosomal dominant neurodevelopmental disorder (NDD). We have assembled 52 cases with heterozygous BRSK2 variants and variable neurodevelopmental phenotypes with frequent neuropsychiatric and behavioral symptoms. The variant spec...