Table 1.

Search terms, inclusion, and exclusion criteria for systematic review.

Category	Details
Search terms	((CTCF) OR (CCCTC-binding factor) OR (next-generation sequencing)) AND ((mutation) OR (variant) OR (copy number) OR (deletion) OR (duplication)) AND ((neurodevelopment) OR (autism) OR (intellectual disability) OR (mental retardation))
Inclusion criteria for publications	Publication is written in English Publication is in peer-reviewed journal Study presents findings in human subject Study describes NDD conditions/phenotypes Study validates genetic cause of NDD with sanger sequencing/exome sequencing Study presents original data
Exclusion criteria for publications	Publication not in English Study describes mutation in non-human species (e.g., mouse model) Study topic not related to NDD (e.g., cancer) CTCF mutation classified as a CTCF binding site, not mutation of coding sequence