Annual research review: Impact of advances in genetics in understanding developmental psychopathology

Journal of Child Psychology and Psychiatry and Allied Disciplines

Volumn 53, Issue 5, 2012, Pages 510-518

  Addington, Anjené M ^a   Rapoport, Judith L ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

copy number variants; Developmental psychopathology; genetics; nosology; pre natal diagnosis; prevention

Indexed keywords

ATTENTION DEFICIT DISORDER; AUTISM; CHILD; CHILD PSYCHIATRY; GENETICS; GILLES DE LA TOURETTE SYNDROME; HUMAN; METHODOLOGY; PHENOTYPE; REVIEW; SCHIZOPHRENIA;

ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; AUTISTIC DISORDER; CHILD; CHILD PSYCHIATRY; HUMANS; PHENOTYPE; SCHIZOPHRENIA; TOURETTE SYNDROME;

EID: 84859725399     PISSN: 00219630     EISSN: 14697610     Source Type: Journal    
DOI: 10.1111/j.1469-7610.2011.02478.x     Document Type: Review

References (96)

1. Addington, A.M., Gauthier, J., Piton, A., Hamdan, F.F., Raymond, A., Gogtay, N., &, Rouleau, G.A., (2011). A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders. Molecular Psychiatry, 16, 238-239.
2. Bagni, C., &, Greenough, W.T., (2005). From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome. Nature Reviews: Neuroscience, 6, 376-387. (Pubitemid 40593483)
3. Bakkaloglu, B., O'Roak, B.J., Louvi, A., Gupta, A.R., Abelson, J.F., Morgan, T.M., &, State, M.W., (2008). Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. American Journal of Human Genetics, 82, 165-173. (Pubitemid 351735952)
4. Bassett, A.S., Scherer, S.W., &, Brzustowicz, L.M., (2010). Copy number variations in schizophrenia: Critical review and new perspectives on concepts of genetics and disease. American Journal of Psychiatry, 167, 899-914.
5. Bear, M.F., (2005). Therapeutic implications of the mGluR theory of fragile X mental retardation. Genes, Brain and Behavior, 4, 393-398. (Pubitemid 41192450)
6. Beaudet, A.L., &, Belmont, J.W., (2008). Array-based DNA diagnostics: Let the revolution begin. Annual Review of Medicine, 59, 113-129. (Pubitemid 351287927)
7. Berry-Kravis, E., Hessl, D., Coffey, S., Hervey, C., Schneider, A., Yuhas, J., &, Hagerman, R., (2009). A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. Journal of Medical Genetics, 46, 266-271.
8. Berry-Kravis, E., Sumis, A., Hervey, C., Nelson, M., Porges, S.W., Weng, N., &, Greenough, W.T., (2008). Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. Journal of Developmental & Behavioral Pediatrics, 29, 293-302.
9. Bilguvar, K., Ozturk, A.K., Louvi, A., Kwan, K.Y., Choi, M., Tatli, B., ⋯ &, Gunel, M., (2010). Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature, 467, 207-210.
10. Butler, M.G., Meaney, F.J., &, Palmer, C.G., (1986). Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. American Journal of Medical Genetics, 23, 793-809. (Pubitemid 16035050)
11. Craddock, R.M., Huang, J.T., Jackson, E., Harris, N., Torrey, E.F., Herberth, M., &, Bahn, S., (2008). Increased alpha-defensins as a blood marker for schizophrenia susceptibility. Molecular & Cellular Proteomics, 7, 1204-1213. (Pubitemid 352038267)
12. Crespi, B., Stead, P., &, Elliot, M., (2010). Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia. Proceedings of the National Academy of Sciences of the United States of America, 107 (Suppl. 1), 1736-1741.
13. Delorme, R., Betancur, C., Scheid, I., Anckarsater, H., Chaste, P., Jamain, S., ⋯ &, Bourgeron, T., (2010). Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls. BMC Medical Genetics, 11, 108.
14. Dolen, G., Carpenter, R.L., Ocain, T.D., &, Bear, M.F., (2010). Mechanism-based approaches to treating fragile X. Pharmacology and Therapeutics, 127, 78-93.
15. Durand, C.M., Betancur, C., Boeckers, T.M., Bockmann, J., Chaste, P., Fauchereau, F., ⋯ &, Bourgeron, T., (2007). Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nature Genetics, 39, 25-27. (Pubitemid 46026497)
16. Dwyer, S., Williams, H., Holmans, P., Moskvina, V., Craddock, N., Owen, M.J., &, O'Donovan, M.C., (2010). No evidence that rare coding variants in ZNF804A confer risk of schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153B, 1411-1416.
17. Epstein, C., Erickson, R., &, Wynshaw-Boris, A., (2004). Inborn errors of development: The molecular basis of clinical disorders of morphogenesis. New York: Oxford University Press.
18. Feero, W.G., Guttmacher, A.E., &, Collins, F.S., (2010). Genomic medicine-An updated primer. New England Journal of Medicine, 362, 2001-2011.
19. Friedman, P.A., Kaufman, S., &, Kang, E.S., (1972). Nature of the molecular defect in phenylketonuria and hyperphenylalaninaemia. Nature, 240, 157-159.
20. Gauthier, J., Champagne, N., Lafreniere, R.G., Xiong, L., Spiegelman, D., Brustein, E., ⋯ &, Rouleau, G.A., (2010). De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proceedings of the National Academy of Sciences of the United States of America, 107, 7863-7868.
21. Gauthier, J., Spiegelman, D., Piton, A., Lafreniere, R.G., Laurent, S., St-Onge, J., ⋯ &, Rouleau, G.A., (2009). Novel de novo SHANK3 mutation in autistic patients. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 150B, 421-424.
22. Geschwind, D.H., (2011). Neurodevelopmental disorders: Hope for a new beginning. Current Opinion in Neurology, 24, 95-97.
23. Grados, M.A., (2010). The genetics of obsessive-compulsive disorder and burette syndrome: An epidemiological and pathway-based approach for gene discovery. Journal of the American Academy of Child & Adolescent Psychiatry, 49, 810-819.
24. Green, T., Gothelf, D., Glaser, B., Debbane, M., Frisch, A., Kotler, M., ⋯ &, Eliez, S., (2009). Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. Journal of the American Academy of Child & Adolescent Psychiatry, 48, 1060-1068.
25. Greenberg, F., Elder, F.F., Haffner, P., Northrup, H., &, Ledbetter, D.H., (1988). Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. American Journal of Human Genetics, 43, 605-611. (Pubitemid 18269240)
26. Grozeva, D., Kirov, G., Ivanov, D., Jones, I.R., Jones, L., Green, E.K., ⋯ &, Craddock, N., (2007). Rare copy number variants: A point of rarity in genetic risk for bipolar disorder and schizophrenia. Archives of General Psychiatry, 67, 318-327.
27. Gupta, A.R., &, State, M.W., (2007). Recent advances in the genetics of autism. Biological Psychiatry, 61, 429-437. (Pubitemid 46185337)
28. Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., ⋯ &, Risch, N., (2011). Genetic heritability and shared environmental factors among twin pairs with autism. Archives of General Psychiatry. Advance online publication. doi:10.1001/archgenpsychiatry.2011.76.
29. Handyside, A., (2010). Let parents decide. Nature, 464, 978-979.
30. Harris, G., (2010). Promise seen in drug for retardation syndrome. New York: New York Times.
31. Hebebrand, J., Scherag, A., Schimmelmann, B.G., &, Hinney, A., (2010). Child and adolescent psychiatric genetics. European Child & Adolescent Psychiatry, 19, 259-279.
32. Iafrate, A.J., Feuk, L., Rivera, M.N., Listewnik, M.L., Donahoe, P.K., Qi, Y., ⋯ &, Lee, C., (2004). Detection of large-scale variation in the human genome. Nature Genetics, 36, 949-951. (Pubitemid 39167488)
33. Jaaro-Peled, H., Hayashi-Takagi, A., Seshadri, S., Kamiya, A., Brandon, N.J., &, Sawa, A., (2009). Neurodevelopmental mechanisms of schizophrenia: understanding disturbed postnatal brain maturation through neuregulin-1-ErbB4 and DISC1. Trends in Neurosciences, 32, 485-495.
34. Jamain, S., Quach, H., Betancur, C., Rastam, M., Colineaux, C., Gillberg, I.C., ⋯ &, Bourgeron, T., (2003). Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genetics, 34, 27-29. (Pubitemid 36548785)
35. Kanner, L., (1943). Autistic disterbences of affective contact. The Nervous Child, 2, 217-250.
36. Kanner, L., (1962). Chld psychiatry. Springfield, IL.: Charles C.Thomas.
37. Kaufman, S., (1983). Phenylketonuria and its variants. Advances in Human Genetics, 13, 217-297.
38. Kaufman, S., Berlow, S., Summer, G.K., Milstien, S., Schulman, J.D., Orloff, S., ⋯ &, Pueschel, S., (1978). Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria. New England Journal of Medicine, 299, 673-679. (Pubitemid 9035345)
39. Ku, C.S., Loy, E.Y., Pawitan, Y., &, Chia, K.S., (2010). The pursuit of genome-wide association studies: Where are we now? Journal of Human Genetics, 55, 195-206.
40. Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.P., ⋯ &, Briault, S., (2004). X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. American Journal of Human Genetics, 74, 552-557. (Pubitemid 38325925)
41. Lejeune, J., Turpin, R., &, Gautier, M., (1959). [Mongolism: A chromosomal disease (trisomy)]. Bulletin de l'Académie Nationale de Médecine, 143, 256-265.
42. Lewis, C.M., Levinson, D.F., Wise, L.H., Delisi, L.E., Straub, R.E., Hovatta, I., ⋯ &, Helgason, T., (2003). Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. American Journal of Human Genetics, 73, 34-48. (Pubitemid 36793778)
43. Lewis, D.A., &, Levitt, P., (2002). Schizophrenia as a disorder of neurodevelopment. Annual Review of Neuroscience, 25, 409-432. (Pubitemid 34748023)
44. Lombroso, P.J., Pauls, D.L., &, Leckman, J.F., (1994). Genetic mechanisms in childhood psychiatric disorders. Journal of the American Academy of Child & Adolescent Psychiatry, 33, 921-938. (Pubitemid 24273898)
45. Lu, X.Y., Phung, M.T., Shaw, C.A., Pham, K., Neil, S.E., Patel, A., ⋯ &, Beaudet, A.L., (2008). Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics, 122, 1310-1318.
46. Marchetto, M.C., Winner, B., &, Gage, F.H., (2010). Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases. Human Molecular Genetics, 19, R71-76.
47. Mccarthy, S.E., Makarov, V., Kirov, G., Addington, A.M., Mcclellan, J., Yoon, S., ⋯ &, Sebat, J., (2009). Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics, 41, 1223-1227.
48. Mefford, H.C., &, Eichler, E.E., (2009). Duplication hotspots, rare genomic disorders, and common disease. Current Opinion in Genetics & Development, 19, 196-204.
49. Millar, J.K., Wilson-Annan, J.C., Anderson, S., Christie, S., Taylor, M.S., Semple, C.A., ⋯ &, Porteous, D.J., (2000). Disruption of two novel genes by a translocation co-segregating with schizophrenia. Human Molecular Genetics, 9, 1415-1423. (Pubitemid 30312490)
50. Miller, D.T., Shen, Y., Weiss, L.A., Korn, J., Anselm, I., Bridgemohan, C., ⋯ &, Wu, B.L., (2009). Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. Journal of Medical Genetics, 46, 242-248.
51. Mitchell, P.B., Meiser, B., Wilde, A., Fullerton, J., Donald, J., Wilhelm, K., &, Schofield, P.R., (2010). Predictive and diagnostic genetic testing in psychiatry. Psychiatric Clinics of North America, 33, 225-243.
52. Moessner, R., Marshall, C.R., Sutcliffe, J.S., Skaug, J., Pinto, D., Vincent, J., ⋯ &, Scherer, S.W., (2007). Contribution of SHANK3 mutations to autism spectrum disorder. American Journal of Human Genetics, 81, 1289-1297. (Pubitemid 350211458)
53. Moskvina, V., Craddock, N., Holmans, P., Nikolov, I., Pahwa, J.S., Green, E., ⋯ &, O'Donovan, M.C., (2009). Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. Molecular Psychiatry, 14, 252-260.
54. Munger, K.M., Gill, C.J., Ormond, K.E., &, Kirschner, K.L., (2007). The next exclusion debate: Assessing technology, ethics, and intellectual disability after the Human Genome Project. Mental Retardation and Developmental Disabilities Research Reviews, 13, 121-128. (Pubitemid 47092765)
55. Neale, B.M., Medland, S.E., Ripke, S., Asherson, P., Franke, B., Lesch, K.P., ⋯ &, Nelson, S., (2010). Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. Journal of the American Academy of Child & Adolescent Psychiatry, 49, 884-897.
56. Ng, M.Y., Levinson, D.F., Faraone, S.V., Suarez, B.K., Delisi, L.E., Arinami, T., ⋯ &, Lewis, C.M., (2009). Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Molecular Psychiatry, 14, 774-785.
57. O'Donovan, M.C., Craddock, N., Norton, N., Williams, H., Peirce, T., Moskvina, V., ⋯ &, Cloninger, C.R., (2008a). Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nature Genetics, 40, 1053-1055.
58. O'Donovan, M.C., Kirov, G., &, Owen, M.J., (2008b). Phenotypic variations on the theme of CNVs. Nature Genetics, 40, 1392-1393.
59. Paulsen, J.S., Nopoulos, P.C., Aylward, E., Ross, C.A., Johnson, H., Magnotta, V.A., ⋯ &, Nance, M., (2010). Striatal and white matter predictors of estimated diagnosis for Huntington disease. Brain Research Bulletin, 82, 201-207.
60. Peen, J., Schoevers, R.A., Beekman, A.T., &, Dekker, J., (2010). The current status of urban-rural differences in psychiatric disorders. Acta Psychiatrica Scandinavica, 121, 84-93.
61. Pine, D.S., Ernst, M., &, Leibenluft, E., (2010). Imaging genetics applications in child psychiatry. Journal of the American Academy of Child & Adolescent Psychiatry, 49, 772-782.
62. Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., ⋯ &, Rouleau, G.A., (2010). Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Molecular Psychiatry, 16, 867-880.
63. Plomin, R., &, Davis, O.S., (2009). The future of genetics in psychology and psychiatry: Microarrays, genome-wide association, and non-coding RNA. The Journal of Child Psychology and Psychiatry, 50, 63-71.
64. Polanczyk, G., Zeni, C., Genro, J.P., Roman, T., Hutz, M.H., &, Rohde, L.A., (2005). Attention-deficit/hyperactivity disorder: advancing on pharmacogenomics. Pharmacogenomics, 6, 225-234. (Pubitemid 40601626)
65. Purcell, S.M., Wray, N.R., Stone, J.L., Visscher, P.M., O'Donovan, M.C., Sullivan, P.F., &, Sklar, P., (2009). Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature, 460, 748-752.
66. Rapoport, J.L., Addington, A.M., Frangou, S., &, Psych, M.R., (2005). The neurodevelopmental model of schizophrenia: Update 2005. Molecular Psychiatry, 10, 434-449. (Pubitemid 40646432)
67. Rapoport, J., Chavez, A., Greenstein, D., Addington, A., &, Gogtay, N., (2009). Autism spectrum disorders and childhood-onset schizophrenia: Clinical and biological contributions to a relation revisited. Journal of the American Academy of Child & Adolescent Psychiatry, 48, 10-18.
68. Raznahan, A., Lee, Y., Long, R., Greenstein, D., Clasen, L., Addington, A., ⋯ &, Giedd, J.N., (2010). Common functional polymorphisms of DISC1 and cortical maturation in typically developing children and adolescents. Molecular Psychiatry, 16, 917-926.
69. Risch, N., &, Merikangas, K., (1996). The future of genetic studies of complex human diseases. Science, 273, 1516-1517. (Pubitemid 26301653)
70. Roach, J.C., Glusman, G., Smit, A. F., Huff, C.D., Hubley, R., Shannon, P.T., ⋯ &, Galas, D.J., (2010). Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science, 328, 636-639.
71. Rutter, M., (1972a). Childhood schizophrenia reconsidered. Journal of Autism & Childhood Schizophrenia, 2, 315-337.
72. Rutter, M., (1972b). Relationships between child and adult psychiatric disorders. Some research considerations. Acta Psychiatrica Scandinavica, 48, 3-21.
73. Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., ⋯ &, Wigler, M., (2007). Strong association of de novo copy number mutations with autism. Science, 316, 445-449. (Pubitemid 46651493)
74. Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., ⋯ &, Wigler, M., (2004). Large-scale copy number polymorphism in the human genome. Science, 305, 525-528. (Pubitemid 38971344)
75. Shaw, P., Eckstrand, K., Sharp, W., Blumenthal, J., Lerch, J.P., Greenstein, D., ⋯ &, Rapoport, J.L., (2007). Attention-deficit/ hyperactivity disorder is characterized by a delay in cortical maturation. Proceedings of the National Academy of Sciences of the United States of America, 104, 19649-19654.
76. Shen, Y., Dies, K.A., Holm, I.A., Bridgemohan, C., Sobeih, M.M., Caronna, E.B., ⋯ &, Miller, D.T., (2010). Clinical genetic testing for patients with autism spectrum disorders. Pediatrics, 125, 727-735.
77. Shi, J., Levinson, D.F., Duan, J., Sanders, A.R., Zheng, Y., Pe'er, I., ⋯ &, Gejman, P.V., (2009). Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature, 460, 753-757.
78. Skuse, D., &, Seigal, A., (2008). Behavioral phenotypes and chromosomal disorders. In, M. Rutter, D. Bishop, D. Pine, S. Scott, J. Stevenson, E. Taylor, &, A. Thapar, (Eds.), Rutter's child and adolescent psychiatry (pp. 359-376). Malden, MA: Blackwell.
79. Smith, A.C., Mcgavran, L., Robinson, J., Waldstein, G., Macfarlane, J., Zonona, J., ⋯ &, Magenis, E., (1986). Interstitial deletion of (17)(p11.2p11.2) in nine patients. American Journal of Medical Genetics, 24, 393-414. (Pubitemid 16017634)
80. State, M.W., (2010). The genetics of child psychiatric disorders: Focus on autism and Tourette syndrome. Neuron, 68, 254-269.
81. State, M.W., (2011). The erosion of phenotypic specificity in psychiatric genetics: Emerging lessons from CNTNAP2. Biological Psychiatry, 69, 816-817.
82. Stefansson, H., Ophoff, R.A., Steinberg, S., Andreassen, O.A., Cichon, S., Rujescu, D., ⋯ &, Collier, D.A., (2009). Common variants conferring risk of schizophrenia. Nature, 460, 744-747.
83. Stefansson, H., Sigurdsson, E., Steinthorsdottir, V., Bjornsdottir, S., Sigmundsson, T., Ghosh, S., ⋯ &, Stefansson, K., (2002). Neuregulin 1 and susceptibility to schizophrenia. American Journal of Human Genetics, 71, 877-892. (Pubitemid 135750519)
84. Stone, J.L., O'Donovan, M.C., Gurling, H., Kirov, G.K., Blackwood, D.H., Corvin, A., ⋯ &, Ardlie, K., (2008). Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature, 455, 237-241.
85. Straub, R.E., Jiang, Y., Maclean, C.J., Ma, Y., Webb, B.T., Myakishev, M.V., ⋯ &, Kendler, K.S., (2002). Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. American Journal of Human Genetics, 71, 337-348. (Pubitemid 34800250)
86. Tarabeux, J., Champagne, N., Brustein, E., Hamdan, F.F., Gauthier, J., Lapointe, M., ⋯ &, Rouleau, G.A., (2010). De novo truncating mutation in Kinesin 17 associated with schizophrenia. Biological Psychiatry, 68, 649-656.
87. Thapar, A., O'Donovan, M., &, Owen, M.J., (2005). The genetics of attention deficit hyperactivity disorder. Human Molecular Genetics, 14, R275-R282. Spec No. 2 (Pubitemid 41631896)
88. Van Den Veyver, I.B., Patel, A., Shaw, C.A., Pursley, A.N., Kang, S.H., Simovich, M.J., ⋯ &, Beaudet, A.L., (2009). Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenatal Diagnosis, 29, 29-39.
89. Voineagu, I., Wang, X., Johnston, P., Lowe, J.K., Tian, Y., Horvath, S., ⋯ &, Geschwind, D.H., (2011). Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature, 474, 380-384.
90. Wallace, G.L., Lee, N.R., Prom-Wormley, E.C., Medland, S.E., Lenroot, R.K., Clasen, L.S., ⋯ &, Giedd, J.N., (2010). A bivariate twin study of regional brain volumes and verbal and nonverbal intellectual skills during childhood and adolescence. Behavior Genetics, 40, 125-134.
91. Walsh, T., Mcclellan, J.M., Mccarthy, S.E., Addington, A.M., Pierce, S.B., Cooper, G.M., ⋯ &, Sebat, J., (2008). Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science, 320, 539-543. (Pubitemid 351590668)
92. Weiss, L.A., Shen, Y., Korn, J.M., Arking, D.E., Miller, D.T., Fossdal, R., ⋯ &, Daly, M.J., (2008). Association between microdeletion and microduplication at 16p11.2 and autism. New England Journal of Medicine, 358, 667-675. (Pubitemid 351240746)
93. Williams, H.J., Norton, N., Dwyer, S., Moskvina, V., Nikolov, I., Carroll, L., ⋯ &, O'Donovan, M.C., (2010). Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder. Molecular Psychiatry, 16, 429-441.
94. Xu, B., Roos, J.L., Levy, S., Van Rensburg, E.J., Gogos, J.A., &, Karayiorgou, M., (2008). Strong association of de novo copy number mutations with sporadic schizophrenia. Nature Genetics, 40, 880-885. (Pubitemid 351913650)
95. Yunis, E., Silva, R., Egel, H., Zuniga, R., Torres De Caballero, O.M., Ramirez, E., &, Poveda De Ruiz, H., (1978). Partial trisomy-5p. Human Genetics, 43, 231-237. (Pubitemid 8388573)
96. Zoghbi, H., (2003). Postnatal neurodevelopmental disorders: Meeting at the synapse? Science, 302, 826-830. (Pubitemid 37339616)