Gershon, ES, Alliey-Rodriguez, N (2013) New ethical issues for genetic counseling in common mental disorders. American Journal of Psychiatry, 170: 968–76.
Girirajan, S, Rosenfeld, JA, Coe, BP et al (2012) Phenotypic heterogeneity of genomic disorders and rare copy-number variants. New England Journal of Medicine, 367: 1321–31.
Gu, W, Zhang, F, Lupski, JR (2008) Mechanisms for human genomic rearrangements. PathoGenetics, 1 (1): 4.
Haukka, J, Suvisaari, J, Lönnqvist, J (2003) Fertility of patients with schizophrenia, their siblings, and the general population: a cohort study from 1950 to 1959 in Finland. American Journal of Psychiatry, 160: 460–3.
Iafrate, AJ, Feuk, L, Rivera, MN et al (2004) Detection of large-scale variation in the human genome. Nature Genetics, 36: 949–51.
International Schizophrenia Consortium (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature, 455: 237–41.
Kaminsky, EB, Kaul, V, Paschall, J et al (2011) An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genetics in Medicine, 13: 777–84.
Kirov, G, Pocklington, AJ, Holmans, P et al (2012) De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Molecular Psychiatry, 17: 142–53.
Kirov, G, Rees, E, Walters, JT et al (2014) The penetrance of copy number variations for schizophrenia and developmental delay. Biological Psychiatry, 75: 378–85.
Laursen, TM, Munk-Olsen, T (2010) Reproductive patterns in psychotic patients. Schizophrenia Research, 121: 234–40.
Lee, C, Scherer, SW (2010) The clinical context of copy number variation in the human genome. Expert Reviews in Molecular Medicine, 12: e8.
Lichtenstein, P, Yip, BH, Björk, C et al (2009) Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study. Lancet, 373: 234–9.
Lupski, JR (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends in Genetics, 14: 417–22.
Lupski, JR (2007) Genomic rearrangements and sporadic disease. Nature Genetics, 39 (7 suppl): s43–7.
Malhotra, D, McCarthy, S, Michaelson, JJ et al (2011) High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron, 72: 951–63.
Malhotra, D, Sebat, J (2012) CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell, 148: 1223–41.
Murphy, KC, Jones, LA, Owen, MJ (1999) High rates of schizophrenia in adults with velo-cardio-facial syndrome. Archives of General Psychiatry, 56: 940–5.
Power, RA, Kyaga, S, Uher, R et al (2013) Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse vs their unaffected siblings. JAMA Psychiatry, 70: 22–30.
Rees, E, Moskvina, V, Owen, MJ et al (2011) De novo rates and selection of schizophrenia-associated copy number variants. Biological Psychiatry, 70: 1109–14.
Rees, E, Walters, JTR, Georgieva, L et al (2014) Analysis of copy number variations at 15 schizophrenia-associated loci. British Journal of Psychiatry, 204: 108–14.
Rosenfeld, JA, Coe, BP, Eichler, EE et al (2013) Estimates of penetrance for recurrent pathogenic copy-number variations. Genetics in Medicine, 15: 478–81.
Sanders, SJ, Ercan-Sencicek, AG, Hus, V et al (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron, 70: 863–85.
Sebat, J, Lakshmi, B, Troge, J et al (2004) Large-scale copy number polymorphism in the human genome. Science, 305: 525–8.
Shprintzen, R, Goldberg, RB, Lewin, ML et al (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate Journal, 15: 56–62.
Simmons, AD, Carvalho, CMB, Lupski, JR (2012) What have studies of genomic disorders taught us about our genome?
Methods in Molecular Biology, 838: 1–27.
Stankiewicz, P, Lupski, JR (2010) Structural variation in the human genome and its role in disease. Annual Review of Medicine, 61: 437–55.
Stefansson, H, Rujescu, D, Cichon, S et al (2008) Large recurrent microdeletions associated with schizophrenia. Nature, 455: 232–6.
Stefansson, H, Meyer-Lindenberg, A, Steinberg, S et al (2014) CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature, 505: 361–6.
Sullivan, PF, Kendler, KS, Neale, MC (2003) Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Archives of General Psychiatry, 60: 1187–92.
Vassos, E, Collier, DA, Holden, S et al (2010) Penetrance for copy number variants associated with schizophrenia. Human Molular Genetics, 19: 3477–81.
Vissers, LE, Stankiewicz, P (2012) Microdeletion and microduplication syndromes. Methods in Molecular Biology, 838: 29–75.
Weischenfeldt, J, Symmons, O, Spitz, F et al (2013) Phenotypic impact of genomic structural variation: insights from and for human disease. Nature Reviews Genetics, 14: 125–38.