Table 2.

Inclusion and exclusion criteria.

Inclusion	Exclusion
Patients with CA with age of onset ≤1 year, patients with DD/ID diagnosed by 18 years	Patients with CA and age of onset >1 year; patients with isolated, nonsyndromic autism without presence of CA or DD/ID
Primary English-language literature including case studies, case series, case–control studies, observational studies, randomized controlled trials	Review articles, commentaries, editorials, basic research (e.g., animal, cell model studies); non-English studies
ES or GS	Targeted (less than exome-level) panel sequencing, non-genome-level sequencing performed
Health and clinical management outcomes reported	No health or clinical management outcomes presented or are hypothetical; only diagnostic yield reported
	ES/GS in patients without CA or DD/ID for infectious disease or cancer
	ES/GS in patients without CA or DD/ID for prenatal testing or prenatal genetic diagnostics

CA congenital anomalies, DD/ID developmental delay/intellectual disability, ES exome sequencing, GS genome sequencing.