Muir et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med. 2021;23(5):881-887. PMID: 33473207.
Wayhelova et al. Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development. J Hum Genet. 2022;67(4):209-214. PMID: 34819662.
Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542(7642):433-438. PMID: 28135719.
Solis et al. Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease. Cells. 2021;10(10):2749. PMID: 34685729.