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The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism individuals.

Sensorimotor cortical oscillations during movement preparation in 16p11.2 deletion carriers.

Atypical neural variability in carriers of 16p11.2 copy number variants.

Psychiatric disorders in children with 16p11.2 deletion and duplication.

Human-specific NOTCH2NL genes affect notch signaling and cortical neurogenesis.

Quantifying the effects of 16p11.2 copy number variants on brain structure: A multisite genetic-first study.

Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human.

Progress in understanding and treating SCN2A-mediated disorders.

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.