Other disease-associated genes were similarly identified, including a 12.5 kb inversion in the autism-associated CNTNAP2 gene (Peñagarikano and Geschwind 2012) and a 4.8 kb inversion in SMC1A (linked to rare disease Cornelia de Lange syndrome) (Deardorff et al. 2007) (Dataset 3, available as supplementary data at Bioinformatics online). Here, SMC1A is linked to Cornelia de Lange syndrome.