. Author manuscript; available in PMC: 2014 Jul 23.

Published in final edited form as: N Engl J Med. 2012 Feb 23;366(8):733–743. doi: 10.1056/NEJMra1114194

Table 2.

Studies Using Massively Parallel Sequencing to Identify Genes Associated with Intellectual Disability and Autism.

Study	Disorder	Presumed Inheritance	Type of Analysis	Genes
Ng et al.⁹⁷	Kabuki syndrome	De novo dominant	Multiple affected	MLL2
Hoischen et al.⁹⁸	Schinzel–Giedion syndrome	De novo dominant	Multiple affected	SETBP1
Vissers et al.⁹⁹	Nonsyndromic sporadic intellectual disability	De novo dominant	Trio	Multiple
Najmabadi et al.¹⁰⁰	Recessive intellectual disability	Autosomal recessive, consanguineous families	Targeted recessive	Multiple
Calişkan et al.¹⁰¹	Recessive intellectual disability	Autosomal recessive, consanguineous family	Recessive	TECR
O’Roak et al.¹⁰²	Autism	De novo dominant	Trio	FOXP1, GRIN2B, SCN1A, LAMC3