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Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.

The general impact of haploinsufficiency on brain connectivity underlies the pleiotropic effect of neuropsychiatric CNVs.

Abnormal auditory mismatch fields in children and adolescents with 16p11.2 deletion and 16p11.2 duplication.

Genome-wide molecular effects of the neuropsychiatric 16p11 CNVs in an iPSC-to-iN neuronal model.

Psychotic symptoms in 16p11.2 copy-number variant carriers.

Quantitative gait assessment in children with 16p11.2 syndrome.

Focal cortical anomalies and language impairment in 16p11.2 deletion and duplication syndrome.

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 copy number variations.

Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus.

Oligogenic effects of 16p11.2 copy number variation on craniofacial development.