Autism

[1]. A Chaudhry, et al. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clin Genet. 2015 Sep;88(3):224-33. [Content Brief]

[2]. Eric M Morrow, et al. Identifying autism loci and genes by tracing recent shared ancestry. Science. 2008 Jul 11;321(5886):218-23. [Content Brief]

[3]. M Neves-Pereira, et al. Deregulation of EIF4E: a novel mechanism for autism. J Med Genet. 2009 Nov;46(11):759-65. [Content Brief]

[4]. Meng-Chuan Lai, et al. Autism. Lancet. 2014 Mar 8;383(9920):896-910. [Content Brief]

[5]. Moe Nakanishi, et al. Functional significance of rare neuroligin 1 variants found in autism. PLoS Genet. 2017 Aug 25;13(8):e1006940. [Content Brief]

[6]. Patrícia B S Celestino-Soper, et al. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. [Content Brief]

[7]. Raphael Bernier, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 2014 Jul 17;158(2):263-276. [Content Brief]

[8]. Rebecca Muhle, et al. The genetics of autism. Pediatrics. 2004 May;113(5):e472-86. [Content Brief]

[9]. S M Klauck, et al. Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. Mol Psychiatry. 2006 Dec;11(12):1073-84. [Content Brief]

[10]. Simone Berkel, et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet. 2010 Jun;42(6):489-91. [Content Brief]

[11]. Susan E Levy, et al. Autism. Lancet. 2009 Nov 7;374(9701):1627-38. [Content Brief]