Schoch K et al. A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay. Am J Hum Genet. 2017;100(2):343-351. PMID: 28132692.
de Ligt J et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367(20):1921-9. PMID: 23033978.
Iossifov I et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014;515(7526):216-21. PMID: 25363768.
Gilissen C et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014;511(7509):344-7. PMID: 24896178.