Ortega-Recalde O et al. Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Clin Genet. 2015;88(4):e1-3.  PMID:26138117.

Nguyen LS et al. A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy. Eur J Hum Genet. 2016;24(3):455-8.  PMID:26153217.

Aggarwal S et al. A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. Am J Med Genet A. 2016;170(7):1868-73.  PMID:27108999.

Utine GE et al. HERC1 mutations in idiopathic intellectual disability. Eur J Med Genet. 2017;60(5):279-283.  PMID:28323226.