1International Schizophrenia Consortium, Purcell, SM, Wray, NR, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009; 460: 748–52.
2Marshall, CR, Howrigan, DP, Merico, D, Thiruvahindrapuram, B, Wu, W, Greer, DS, et al. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet 2017; 49: 27–35.
3Kirov, G, Rees, E, Walters, JT, Escott-Price, V, Georgieva, L, Richards, AL, et al. The penetrance of copy number variations for schizophrenia and developmental delay. Biol Psychiatry 2014; 75: 378–85.10.1016/j.biopsych.2013.07.022
4Kendall, KM, Rees, E, Escott-Price, V, Einon, M, Thomas, R, Hewitt, J, et al. Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK biobank subjects. Biol Psychiatry 2017; 82: 103–10.10.1016/j.biopsych.2016.08.014
5Miller, DT, Adam, MP, Aradhya, S, Biesecker, LG, Brothman, AR, Carter, NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749–64.
6Schaefer, GB, Mendelsohn, NJ.Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med 2013; 15: 399–407.10.1038/gim.2013.32
7Philip, N, Bassett, A.Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome. Behav Genet 2011; 41: 403–12.
8Ahn, K, Gotay, N, Andersen, TM, Anvari, AA, Gochman, P, Lee, Y, et al. High rate of disease-related copy number variations in childhood onset schizophrenia. Mol Psychiatry 2014; 19: 568–72.
9Walsh, T, McClellan, JM, McCarthy, SE, Addington, AM, Pierce, SB, Cooper, GM, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008; 320: 539–43.
10Yeo, RA, Gangestad, SW, Liu, J, Ehrlich, S, Thoma, RJ, Pommy, J, et al. The impact of copy number deletions on general cognitive ability and ventricle size in patients with schizophrenia and healthy control subjects. Biol Psychiatry 2013; 73: 540–5.
11Stefansson, H, Meyer-Lindenberg, A, Steinberg, S, Magnusdottir, B, Morgen, K, Arnarsdottir, S, et al. CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature 2014; 505: 361–6.10.1038/nature12818
12Derks, EM, Ayub, M, Chambert, K, Del Favero, J, Johnstone, M, MacGregor, S, et al. A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability. Am J Med Genet B Neuropsychiatr Genet 2013; 162B: 847–54.
13Sahoo, T, Theisen, A, Rosenfeld, JA, Lamb, AN, Ravnan, JB, Schultz, RA, et al. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med 2011; 13: 868–80.
14Wilson, NK, Lee, Y, Long, R, Hermetz, K, Rudd, MK, Miller, R, et al. A novel microduplication in the neurodevelopmental gene SRGAP3 that segregates with psychotic illness in the family of a COS proband. Case Rep Genet 2011; 2011: 585893.
15Costain, G, Lionel, AC, Fu, F, Stavropoulos, DJ, Gazzellone, MJ, Marshall, CR, et al. Adult neuropsychiatric expression and familial segregation of 2q13 duplications. Am J Med Genet B Neuropsychiatr Genet 2014; 165B: 337–44.
16Miles, JH, Takahashi, TN, Hong, J, Munden, N, Flournoy, N, Braddock, SR, et al. Development and validation of a measure of dysmorphology: useful for autism subgroup classification. Am J Med Genet A 2008; 146A: 1101–16.10.1002/ajmg.a.32244
17Irish Schizophrenia Genomics Consortium, Wellcome Trust Case Control Consortium 2. Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia. Biol Psychiatry 2012; 72: 620–8.10.1016/j.biopsych.2012.05.035
18First, MB, Spitzer, RL, Gibbon, M, Williams, JBW.Structured Clinical Interview for DSM-IV-TR Axis I Disorders, Research Version, Patient Edition (SCID-I/P). Biometrics Research, New York State Psychiatric Institute, 2002.
19Hamshere, ML, Walters, JT, Smith, R, Richards, AL, Green, E, Grozeva, D, et al. Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Mol Psychiatry 2013; 18: 708–12.
20Rees, E, Walters, JTR, Georgieva, L, Isles, AR, Chambert, KD, Richards, AL, et al. Analysis of copy number variations at 15 schizophrenia-associated loci. Br J Psychiatry 2014; 204: 108–14.
21Malhotra, D, Sebat, J.CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 2012; 148(6): 1223–41.
22Rees, E, Kendall, K, Pardiñas, AF, Legge, SE, Pocklington, A, Escott-Price, V, et al. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry 2016; 73: 963–9.
23R Core Team. R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, 2013 (http://www.R-project.org/).
24Thygesen, JH, Wolfe, K, McQuillin, A, Viñas-Jornet, M, Baena, N, Brison, N, et al. Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders. Br J Psychiatry 2018; 212: 287–94.
25Lowther, C, Merico, D, Costain, G, Waserman, J, Boyd, K, Noor, A, et al. Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia. Genome Med 2017; 9(1): 105.10.1186/s13073-017-0488-z