• DeSanto C, et al. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. J Med Genet. 2015, 52: 754-761.
  • Lugtenberg D, et al. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. Eur J Hum Genet 2016 Aug;24(8):1145-1153.
  • Abdelhedi F, et al. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders. Am J Med Genet A. 2016 Jul;170(7):1912-1917.