Based on Pubmed searches and review of references, a total of 820 unique articles were identified: 223 ASD, 373 ID, 164 schizophrenia, and 60 epilepsy articles. After full review of all articles, 37 articles met stringent search criteria: 8 ASD9–12, 27, 36–38, 9 ID18–20, 22, 39–43, 15 schizophrenia13–17, 23–25, 37, 44–49, and 5 epilepsy8, 50–53 (Table S1, available online). We categorized CNVs to disorders based “strict” criteria and “broad” criteria (see Method and Figure S1, available online). From these articles, 79 CNVs (counting deletions and duplications separately) met strict criteria: 39 were assigned to ID (26 deletions, 13 duplications), 14 to ASD (8 deletions, 6 duplications), 23 to schizophrenia (13 deletions, 10 duplications), and 3 to epilepsy (3 deletions, no duplications) In summary, 54 unique loci (now combining deletions and duplications) encompassing 1,416 unique genes, were determined to be highly recurrent and associated with disease (Table 1). Ten out of the 54 CNVs did not contain any genes and were not included in the pathway analysis. The assignment of CNVs to the broad criteria are also shown in Table 1.
