Simons Searchlight

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Abnormal auditory and language pathways in children with 16p11.2 deletion.

Genotype-first analysis of the 16p11.2 deletion defines a new type of “autism.”

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications.

A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology.

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude.