Simons Searchlight

Detailed clinical and psychological phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder.

The psychiatric phenotypes of 1q21 distal deletion and duplication.

Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids.

SCN2A-developmental and epileptic encephalopathies: Challenges to trial-readiness for non-seizure outcomes.

16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development.

Exons as units of phenotypic impact for truncating mutations in autism.

A genetics-first approach to dissecting the heterogeneity of autism: Phenotypic comparison of autism risk copy number variants.

Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia.

Language characterization in 16p11.2 deletion and duplication syndromes.

Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice.