NACC1

Publications

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.