The genetics of developmental disorders

Current Issues in Developmental Disorders

Volumn 9780203100288, Issue , 2012, Pages 46-72

  Newbury, Dianne ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84889817653     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.4324/9780203100288     Document Type: Chapter

References (167)

1. Abrahams, B. S., & Geschwind, D. H. (2010). Connecting genes to brain in the autism spectrum disorders. Archives of Neurology, 67(4), 395-399.
2. Alarcon, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., et al. (2008). Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. American Journal of Human Genetics, 82(1), 150-159.
3. Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., et al. (2010). A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics, 19(20), 4072-4082.
4. Anney, R. J., Kenny, E. M., O'Dushlaine, C., Yaspan, B. L., Parkhomenka, E., Buxbaum, J. D., et al. (2011). Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. European Journal of Human Genetics, 19(10), 1082-1089.
5. Arking, D. E., Cutler, D. J., Brune, C. W., Teslovich, T. M., West, K., Ikeda, M., et al. (2008). A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. American Journal of Human Genetics, 82(1), 160-164.
6. Bakkaloglu, B., O'Roak, B. J., Louvi, A., Gupta, A. R., Abelson, J. F., Morgan, T. M., et al. (2008). Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. American Journal of Human Genetics, 82(1), 165-173.
7. Bakker, S. C., van der Meulen, E. M., Buitelaar, J. K., Sandkuijl, L. A., Pauls, D. L., Monsuur, A. J., et al. (2003). A whole-genome scan in 164 Dutch sib pairs with attentiondefi cit/hyperactivity disorder: Suggestive evidence for linkage on chromosomes 7p and 15q. American Journal of Human Genetics, 72(5), 1251-1260.
8. Bartlett, C. W., Flax, J. F., Logue, M. W., Smith, B. J., Vieland, V. J., Tallal, P., et al. (2004). Examination of potential overlap in autism and language loci on chromosomes 2, 7, and 13 in two independent samples ascertained for specifi c language impairment. Human Heredity, 57(1), 10-20.
9. Bartlett, C. W., Flax, J. F., Logue, M. W., Vieland, V. J., Bassett, A. S., Tallal, P., et al. (2002). A major susceptibility locus for specifi c language impairment is located on 13q21. American Journal of Human Genetics, 71(1), 45-55.
10. Bates, T. C., Lind, P. A., Luciano, M., Montgomery, G. W., Martin, N. G., & Wright, M. J. (2009). Dyslexia and DYX1C1: Defi cits in reading and spelling associated with a missense mutation. Molecular Psychiatry,15(12), 1090-1096.
11. Belloso, J. M., Bache, I., Guitart, M., Caballin, M. R., Halgren, C., Kirchhoff, M., et al. (2007). Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. European Journal of Human Genetics, 15(6), 711-713.
12. Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S. H., Fong, C. T., Salamone, J., et al. (2007). Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genetics in Medicine, 9(7), 427-441.
13. Betancur, C., Sakurai, T., & Buxbaum, J. D. (2009). The emerging role of synaptic celladhesion pathways in the pathogenesis of autism spectrum disorders. Trends in Neurosciences, 32(7), 402-412.
14. Beuren, A. J., Apitz, J., & Harmjanz, D. (1962). Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation, 26, 1235-1240.
15. Bijlsma, E. K., Gijsbers, A. C., Schuurs-Hoeijmakers, J. H., van Haeringen, A., Fransen van de Putte, D. E., Anderlid, B. M., et al. (2009). Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals. European Journal of Medical Genetics, 52(2-3), 77-87.
16. Bishop, D. V. (2009). Genes, cognition, and communication: Insights from neurodevelopmental disorders. Annals of the New York Academy of Sciences, 1156, 1-18.
17. Bonora, E., Bacchelli, E., Levy, E. R., Blasi, F., Marlow, A., Monaco, A. P., et al. (2002). Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Molecular Psychiatry, 7(3), 289-301.
18. Bonora, E., Lamb, J. A., Barnby, G., Sykes, N., Moberly, T., Beyer, K. S., et al. (2005). Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. European Journal of Human Genetics, 13(2), 198-207.
19. Bourgeron, T. (2009). A synaptic trek to autism. Current Opinion in Neurobiology, 19(2), 231-234.
20. Burbridge, T. J., Wang, Y., Volz, A. J., Peschansky, V. J., Lisann, L., Galaburda, A. M., et al. (2008). Postnatal analysis of the effect of embryonic knockdown and overexpression of candidate dyslexia susceptibility gene homolog Dcdc2 in the rat. Neuroscience, 152(3), 723-733.
21. Buxbaum, J. D., Cai, G., Chaste, P., Nygren, G., Goldsmith, J., Reichert, J., et al. (2007). Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. American Journal of Medical Genetics B Neuropsychiatric Genetics, 144B(4), 484-491.
22. Buxbaum, J. D., Cai, G., Nygren, G., Chaste, P., Delorme, R., Goldsmith, J., et al. (2007). Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. BMC Medical Genetics, 8, 68.
23. Cardon, L. R., Smith, S. D., Fulker, D. W., Kimberling, W. J., Pennington, B. F., & DeFries, J. C. (1994). Quantitative trait locus for reading disability on chromosome 6. Science, 266(5183), 276-279.
24. Carr, C. W., Moreno-De-Luca, D., Parker, C., Zimmerman, H. H., Ledbetter, N., Martin, C. L., et al. (2010). Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsuffi ciency. European Journal of Human Genetics, 18, 1216-1220.
25. Ching, M. S., Shen, Y., Tan, W. H., Jeste, S. S., Morrow, E. M., Chen, X., et al. (2010). Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. American Journal of Medical Genetics B Neuropsychiatric Genetics, 153B(4), 937-947.
26. Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., Liu, S., Karamohamed, S., et al. (2008). Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological Psychiatry, 63(12), 1111-1117.
27. Cope, N., Harold, D., Hill, G., Moskvina, V., Stevenson, J., Holmans, P., et al. (2005). Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. American Journal of Human Genetics, 76(4), 581-591.
28. Couto, J. M., Gomez, L., Wigg, K., Ickowicz, A., Pathare, T., Malone, M., et al. (2009). Association of attention-defi cit/hyperactivity disorder with a candidate region for reading disabilities on chromosome 6p. Biological Psychiatry, 66(4), 368-375.
29. Couto, J. M., Livne-Bar, I., Huang, K., Xu, Z., Cate-Carter, T., Feng, Y., et al. (2011). Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319. American Journal of Medical Genetics B Neuropsychiatric Genetics, 153B(2), 447-462.
30. Craddock, N., Hurles, M. E., Cardin, N., Pearson, R. D., Plagnol, V., Robson, S., et al. (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464(7289), 713-720.
31. Dahdouh, F., Anthoni, H., Tapia-Paez, I., Peyrard-Janvid, M., Schulte-Korne, G., Warnke, A., et al. (2009). Further evidence for DYX1C1 as a susceptibility factor for dyslexia. Psychiatric Genetics, 19(2), 59-63.
32. Daoud, H., Bonnet-Brilhault, F., Vedrine, S., Demattei, M. V., Vourc'h, P., Bayou, N., et al. (2009). Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level. Biological Psychiatry, 66(10), 906-910.
33. de la Chapelle, A., Herva, R., Koivisto, M., & Aula, P. (1981). A deletion in chromosome 22 can cause DiGeorge syndrome. Human Genetics, 57(3), 253-256.
34. Deffenbacher, K. E., Kenyon, J. B., Hoover, D. M., Olson, R. K., Pennington, B. F., DeFries, J. C., et al. (2004). Refi nement of the 6p21.3 quantitative trait locus infl uencing dyslexia: Linkage and association analyses. Human Genetics, 115(2), 128-138.
35. Dennis, M. Y., Paracchini, S., Scerri, T. S., Prokunina-Olsson, L., Knight, J. C., Wade- Martins, R., et al. (2009). A common variant associated with dyslexia reduces expression of the KIAA0319 gene. PLoS Genetics, 5(3), e1000436.
36. Depienne, C., Heron, D., Betancur, C., Benyahia, B., Trouillard, O., Bouteiller, D., et al. (2007). Autism, language delay and mental retardation in a patient with 7q11 duplication. Journal of Medical Genetics, 44(7), 452-458.
37. Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., et al. (2007). Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nature Genetics, 39(1), 25-27.
38. Durbin, R. M., Abecasis, G. R., Altshuler, D. L., Auton, A., Brooks, L. D., Gibbs, R. A., et al. (2010). A map of human genome variation from population-scale sequencing. Nature, 467(7319), 1061-1073.
39. Elbert, A., Lovett, M. W., Cate-Carter, T., Pitch, A., Kerr, E. N., & Barr, C. L. (2011). Genetic variation in the KIAA0319 5' region as a possible contributor to dyslexia. Behavior Genetics, 41(1), 77-89.
40. Elia, J., Gai, X., Xie, H. M., Perin, J. C., Geiger, E., Glessner, J. T., et al. (2009). Rare structural variants found in attention-defi cit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Molecular Psychiatry, 15(6), 637-646.
41. Etherton, M. R., Blaiss, C. A., Powell, C. M., & Sudhof, T. C. (2009). Mouse neurexin- 1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. Proceedings of the National Academy of Sciences of the United States of America, 106(42), 17998-18003.
42. Falcaro, M., Pickles, A., Newbury, D. F., Addis, L., Banfi eld, E., Fisher, S. E., et al. (2008). Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specifi c language impairment. Genes Brain and Behavior, 7(4), 393-402.
43. Faraone, S. V., & Mick, E. (2010). Molecular genetics of attention defi cit hyperactivity disorder. Psychiatric Clinics of North America, 33(1), 159-180.
44. Fernandez, B. A., Roberts, W., Chung, B., Weksberg, R., Meyn, S., Szatmari, P., et al. (2010). Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. Journal of Medical Genetics, 47(3), 195-203.
45. Feuk, L., Kalervo, A., Lipsanen-Nyman, M., Skaug, J., Nakabayashi, K., Finucane, B., et al. (2006). Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. American Journal of Human Genetics, 79(5), 965-972.
46. Fisher, S. E., Marlow, A. J., Lamb, J., Maestrini, E., Williams, D. F., Richardson, A. J., et al. (1999). A quantitative-trait locus on chromosome 6p infl uences different aspects of developmental dyslexia. American Journal of Human Genetics, 64(1), 146-156.
47. Fisher, S. E., & Scharff, C. (2009). FOXP2 as a molecular window into speech and language. Trends in Genetics, 25(4), 166-177.
48. Fisher, S. E., Vargha-Khadem, F., Watkins, K. E., Monaco, A. P., & Pembrey, M. E. (1998). Localisation of a gene implicated in a severe speech and language disorder. Nature Genetics, 18(2), 168-170.
49. Francks, C., Paracchini, S., Smith, S. D., Richardson, A. J., Scerri, T. S., Cardon, L. R., et al. (2004). A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. American Journal of Human Genetics, 75(6), 1046-1058.
50. Friedman, J. I., Vrijenhoek, T., Markx, S., Janssen, I. M., van der Vliet, W. A., Faas, B. H., et al. (2008). CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Molecular Psychiatry, 13(3), 261-266.
51. Galaburda, A. M., Sherman, G. F., Rosen, G. D., Aboitiz, F., & Geschwind, N. (1985). Developmental dyslexia: Four consecutive patients with cortical anomalies. Annals of Neurology, 18(2), 222-233.
52. Gauthier, J., Spiegelman, D., Piton, A., Lafreniere, R. G., Laurent, S., St-Onge, J., et al. (2009). Novel de novo SHANK3 mutation in autistic patients. American Journal of Medical Genetics B Neuropsychiatric Genetics, 150B(3), 421-424.
53. Gayan, J., Smith, S. D., Cherny, S. S., Cardon, L. R., Fulker, D. W., Brower, A. M., et al. (1999). Quantitative-trait locus for specifi c language and reading defi cits on chromosome 6p. American Journal of Human Genetics, 64(1), 157-164.
54. Gilman, S. R., Iossifov, I., Levy, D., Ronemus, M., Wigler, M., & Vitkup, D. (2011). Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron, 70(5), 898-907.
55. Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., et al. (2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-209.
56. Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., et al. (2009). Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature, 459(7246), 569-573.
57. Grigorenko, E. L., Wood, F. B., Meyer, M. S., Hart, L. A., Speed, W. C., Shuster, A., et al. (1997). Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. American Journal of Human Genetics, 60(1), 27-39.
58. Grigorenko, E. L., Wood, F. B., Meyer, M. S., & Pauls, D. L. (2000). Chromosome 6p infl uences on different dyslexia-related cognitive processes: Further confi rmation. American Journal of Human Genetics, 66(2), 715-723.
59. Guilmatre, A., Dubourg, C., Mosca, A. L., Legallic, S., Goldenberg, A., Drouin-Garraud, V., et al. (2009). Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Archives of General Psychiatry, 66(9), 947-956.
60. Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., et al. (2010). De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. American Journal of Human Genetics, 87(5), 671-678.
61. Hanson, E., Nasir, R. H., Fong, A., Lian, A., Hundley, R., Shen, Y., et al. (2010). Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome. Journal of Developmental and Behavioral Pediatrics, 31(8), 649-657.
62. Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., et al. (2009). 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genetics, 41(2), 160-162.
63. Horn, D., Kapeller, J., Rivera-Brugues, N., Moog, U., Lorenz-Depiereux, B., Eck, S., et al. (2010). Identifi cation of FOXP1 deletions in three unrelated patients with mental retardation and signifi cant speech and language defi cits. Human Mutation, 31(11), E1851-E1860.
64. Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., et al. (2004). Detection of large-scale variation in the human genome. Nature Genetics, 36(9), 949-951.
65. Jackman, C., Horn, N. D., Molleston, J. P., & Sokol, D. K. (2009). Gene associated with seizures, autism, and hepatomegaly in an Amish girl. Pediatric Neurology, 40(4), 310-313.
66. Jamain, S., Quach, H., Betancur, C., Rastam, M., Colineaux, C., Gillberg, I. C., et al. (2003). Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genetics, 34(1), 27-29.
67. Jamain, S., Radyushkin, K., Hammerschmidt, K., Granon, S., Boretius, S., Varoqueaux, F., et al. (2008). Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proceedings of the National Academy of Sciences of the United States of America, 105(5), 1710-1715.
68. Kang, C., & Drayna, D. (2011). Genetics of Speech and Language Disorders. Annual Review of Genomics and Human Genetics, 12, 145-164.
69. Kaplan, D. E., Gayan, J., Ahn, J., Won, T. W., Pauls, D., Olson, R. K., et al. (2002). Evidence for linkage and association with reading disability on 6p21.3-22. American Journal of Human Genetics, 70(5), 1287-1298.
70. Kim, H. G., Kishikawa, S., Higgins, A. W., Seong, I. S., Donovan, D. J., Shen, Y., et al. (2008). Disruption of neurexin 1 associated with autism spectrum disorder. American Journal of Human Genetics, 82(1), 199-207.
71. Konig, I. R., Schumacher, J., Hoffmann, P., Kleensang, A., Ludwig, K. U., Grimm, T., et al. (2011). Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21. American Journal of Medical Genetics B Neuropsychiatric Genetics, 156B(1), 36-43.
72. Kraft, P. (2008). Curses - winner's and otherwise - in genetic epidemiology. Epidemiology, 19(5), 649-651; discussion 657-648.
73. Lai, C. S., Fisher, S. E., Hurst, J. A., Vargha-Khadem, F., & Monaco, A. P. (2001). A forkhead-domain gene is mutated in a severe speech and language disorder. Nature, 413(6855), 519-523.
74. Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., et al. (2001). Initial sequencing and analysis of the human genome. Nature, 409(6822), 860-921.
75. Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M. P., et al. (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(3), 552-557.
76. Lennon, P. A., Cooper, M. L., Peiffer, D. A., Gunderson, K. L., Patel, A., Peters, S., et al. (2007). Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. American Journal of Medical Genetics A, 143(8), 791-798.
77. Lesch, K. P., Timmesfeld, N., Renner, T. J., Halperin, R., Roser, C., Nguyen, T. T., et al. (2008). Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. Journal of Neural Transmission, 115(11), 1573-1585.
78. Levinson, D. F., Duan, J., Oh, S., Wang, K., Sanders, A. R., Shi, J., et al. (2011). Copy number variants in schizophrenia: Confirmation of fi ve previous fi ndings and new evidence for 3q29 microdeletions and VIPR2 duplications. American Journal of Psychiatry, 168(3), 302-316.
79. Levy, D., Ronemus, M., Yamrom, B., Lee, Y. H., Leotta, A., Kendall, J., et al. (2011). Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron, 70(5), 886-897.
80. Lim, C. K., Ho, C. S., Chou, C. H., & Waye, M. M. (2011). Association of the rs3743205 variant of DYX1C1 with dyslexia in Chinese children. Behavioral and Brain Functions, 7(1), 16.
81. Lind, P. A., Luciano, M., Wright, M. J., Montgomery, G. W., Martin, N. G., & Bates, T. C. (2010). Dyslexia and DCDC2: Normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample. European Journal of Human Genetics, 18, 668-673.
82. Ludwig, K. U., Roeske, D., Schumacher, J., Schulte-Korne, G., Konig, I. R., Warnke, A., et al. (2008). Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample. Journal of Neural Transmission, 115(11), 1587-1589.
83. Ma, D., Salyakina, D., Jaworski, J. M., Konidari, I., Whitehead, P. L., Andersen, A. N., et al. (2009). A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Annals of Human Genetics, 73(Pt 3), 263-273.
84. MacDermot, K. D., Bonora, E., Sykes, N., Coupe, A. M., Lai, C. S., Vernes, S. C., et al. (2005). Identifi cation of FOXP2 truncation as a novel cause of developmental speech and language defi cits. American Journal of Human Genetics, 76(6), 1074-1080.
85. Marlow, A. J., Fisher, S. E., Francks, C., MacPhie, I. L., Cherny, S. S., Richardson, A. J., et al. (2003). Use of multivariate linkage analysis for dissection of a complex cognitive trait. American Journal of Human Genetics, 72(3), 561-570.
86. Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., et al. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82(2), 477-488.
87. Meaburn, E., Dale, P. S., Craig, I. W., & Plomin, R. (2002). Language-impaired children: No sign of the FOXP2 mutation. Neuroreport, 13(8), 1075-1077.
88. Meda, S. A., Gelernter, J., Gruen, J. R., Calhoun, V. D., Meng, H., Cope, N. A., et al. (2008). Polymorphism of DCDC2 reveals differences in cortical morphology of healthy individuals: A preliminary voxel based morphometry study. Brain Imaging and Behavior, 2(1), 21-26.
89. Meechan, D. W., Maynard, T. M., Tucker, E. S., & LaMantia, A. S. (2011). Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes. International Journal of Developmental Neuroscience, 29(3), 283-294.
90. Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., et al. (2010). Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genetics, 6(5), e1000962.
91. Meng, H., Powers, N. R., Tang, L., Cope, N. A., Zhang, P. X., Fuleihan, R., et al. (2011). A dyslexia-associated variant in DCDC2 changes gene expression. Behavior Genetics, 41(1), 58-66.
92. Meng, H., Smith, S. D., Hager, K., Held, M., Liu, J., Olson, R. K., et al. (2005). DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proceedings of the National Academy of Sciences of the United States of America, 102(47), 17053-17058.
93. Monaco, A. P. (2007). Multivariate linkage analysis of specifi c language impairment (SLI). Annals of Human Genetics, 71(5), 660-673.
94. Morrow, E. M. (2010). Genomic copy number variation in disorders of cognitive development. Journal of the American Academy of Child and Adolescent Psychiatry, 49(11), 1091-1104.
95. Newbury, D. F., Bonora, E., Lamb, J. A., Fisher, S. E., Lai, C. S., Baird, G., et al. (2002). FOXP2 is not a major susceptibility gene for autism or specifi c language impairment. American Journal of Human Genetics, 70(5), 1318-1327.
96. Newbury, D. F., & Monaco, A. P. (2010). Genetic advances in the study of speech and language disorders. Neuron, 68(2), 309-320.
97. Newbury, D. F., Paracchini, S., Scerri, T. S., Winchester, L., Addis, L., Richardson, A. J., et al. (2011). Investigation of dyslexia and SLI risk variants in reading- and languageimpaired subjects. Behavior Genetics, 41(1), 90-104.
98. Newbury, D. F., Winchester, L., Addis, L., Paracchini, S., Buckingham, L. L., Clark, A., et al. (2009). CMIP and ATP2C2 modulate phonological short-term memory in language impairment. American Journal of Human Genetics, 85(2), 264-272.
99. Nopola-Hemmi, J., Taipale, M., Haltia, T., Lehesjoki, A. E., Voutilainen, A., & Kere, J. (2000). Two translocations of chromosome 15q associated with dyslexia. Journal of Medical Genetics, 37(10), 771-775.
100. O'Brien, E. K., Zhang, X., Nishimura, C., Tomblin, J. B., & Murray, J. C. (2003). Association of specifi c language impairment (SLI) to the region of 7q31. American Journal of Human Genetics, 72(6), 1536-1543.
101. O'Dushlaine, C., Kenny, E., Heron, E., Donohoe, G., Gill, M., Morris, D., et al. (2010). Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. Molecular Psychiatry, 16(3), 286-292.
102. O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., et al. (2011). Exome sequencing in sporadic autism spectrum disorders identifi es severe de novo mutations. Nature Genetics, 43(6), 585-589.
103. Pagnamenta, A. T., Bacchelli, E., de Jonge, M. V., Mirza, G., Scerri, T. S., Minopoli, F., et al. (2010). Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biological Psychiatry, 68(4), 320-328.
104. Pagnamenta, A. T., Wing, K., Akha, E. S., Knight, S. J., Bolte, S., Schmotzer, G., et al. (2009). A 15q13.3 microdeletion segregating with autism. European Journal of Human Genetics, 17(5), 687-692.
105. Paracchini, S., Thomas, A., Castro, S., Lai, C., Paramasivam, M., Wang, Y., et al. (2006). The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Human Molecular Genetics, 15(10), 1659-1666.
106. Pariani, M. J., Spencer, A., Graham, J. M., Jr., & Rimoin, D. L. (2009). A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. European Journal of Medical Genetics, 52(2-3), 123-127.
107. Peca, J., Feliciano, C., Ting, J. T., Wang, W., Wells, M. F., Venkatraman, T. N., et al. (2011). Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature, 472(7344), 437-442.
108. Peschansky, V. J., Burbridge, T. J., Volz, A. J., Fiondella, C., Wissner-Gross, Z., Galaburda, A. M., et al. (2010). The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat. Cerebral Cortex, 20(4), 884-897.
109. Petrin, A. L., Giacheti, C. M., Maximino, L. P., Abramides, D. V., Zanchetta, S., Rossi, N. F., et al. (2010). Identifi cation of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. American Journal of Medical Genetics A, 152A(12), 3164-3172.
110. Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466(7304), 368-372.
111. Poelmans, G., Pauls, D. L., Buitelaar, J. K., & Franke, B. (2011). Integrated genome-wide association study fi ndings: Identifi cation of a neurodevelopmental network for attention defi cit hyperactivity disorder. American Journal of Psychiatry, 168(4), 365-377.
112. Poot, M., Beyer, V., Schwaab, I., Damatova, N., Van't Slot, R., Prothero, J., et al. (2009). Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics, 11, 81-89.
113. Posthuma, D., Luciano, M., Geus, E. J., Wright, M. J., Slagboom, P. E., Montgomery, G. W., et al. (2005). A genomewide scan for intelligence identifi es quantitative trait loci on 2q and 6p. American Journal of Human Genetics, 77(2), 318-326.
114. Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., et al. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444-454.
115. Rice, M. L., Smith, S. D., & Gayan, J. (2009). Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specifi c Language Impairment. Journal of Neurodevelopmental Disorders, 1(4), 264-282.
116. Roohi, J., Montagna, C., Tegay, D. H., Palmer, L. E., DeVincent, C., Pomeroy, J. C., et al. (2009). Disruption of contactin 4 in three subjects with autism spectrum disorder. Journal of Medical Genetics, 46(3), 176-182.
117. Rosen, G. D., Bai, J., Wang, Y., Fiondella, C. G., Threlkeld, S. W., LoTurco, J. J., et al. (2007). Disruption of neuronal migration by RNAi of Dyx1c1 results in neocortical and hippocampal malformations. Cerebral Cortex, 17(11), 2562-2572.
118. Rossi, E., Verri, A. P., Patricelli, M. G., Destefani, V., Ricca, I., Vetro, A., et al. (2008). A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. European Journal of Medical Genetics, 51(6), 631-638.
119. Roth, T. L., Roth, E. D., & Sweatt, J. D. (2010). Epigenetic regulation of genes in learning and memory. Essays in Biochemistry, 48(1), 263-274.
120. Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno- De-Luca, D., et al. (2011). Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams Syndrome region, are strongly associated with autism. Neuron, 70(5), 863-885.
121. Scerri, T. S., & Schulte-Korne, G. (2009). Genetics of developmental dyslexia. European Child and Adolescent Psychiatry, 19(3), 179-197.
122. Schulte-Korne, G., Grimm, T., Nothen, M. M., Muller-Myhsok, B., Cichon, S., Vogt, I. R., et al. (1998). Evidence for linkage of spelling disability to chromosome 15. American Journal of Human Genetics, 63(1), 279-282.
123. Schumacher, J., Anthoni, H., Dahdouh, F., Konig, I. R., Hillmer, A. M., Kluck, N., et al. (2006). Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. American Journal of Human Genetics, 78(1), 52-62.
124. Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., et al. (2007). Strong association of de novo copy number mutations with autism. Science, 316(5823), 445-449.
125. Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., et al. (2004). Large-scale copy number polymorphism in the human genome. Science, 305(5683), 525-528.
126. Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., et al. (2008). A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics, 40(3), 322-328.
127. Shinawi, M., Liu, P., Kang, S. H., Shen, J., Belmont, J. W., Scott, D. A., et al. (2010). Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Journal of Medical Genetics, 47(5), 332-341.
128. Shriberg, L. D., Ballard, K. J., Tomblin, J. B., Duffy, J. R., Odell, K. H., & Williams, C. A. (2006). Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. Journal of Speech, Language, and Hearing Research, 49(3), 500-525.
129. Silani, G., Frith, U., Demonet, J. F., Fazio, F., Perani, D., Price, C., et al. (2005). Brain abnormalities underlying altered activation in dyslexia: A voxel based morphometry study. Brain, 128(Pt 10), 2453-2461.
130. Simmons, T. R., Flax, J. F., Azaro, M. A., Hayter, J. E., Justice, L. M., Petrill, S. A., et al. (2010). Increasing genotype-phenotype model determinism: Application to bivariate reading/language traits and epistatic interactions in language-impaired families. Human Heredity, 70(4), 232-244.
131. SLI Consortium. (2002). A genomewide scan identifi es two novel loci involved in specifi c language impairment. American Journal of Human Genetics, 70(2), 384-398.
132. SLI Consortium. (2004). Highly signifi cant linkage to the SLI1 locus in an expanded sample of individuals affected by specifi c language impairment. American Journal of Human Genetics, 74(6), 1225-1238.
133. Smith, S. D., Pennington, B. F., Boada, R., & Shriberg, L. D. (2005). Linkage of speech sound disorder to reading disability loci. Journal of Child Psychology and Psychiatry and Allied Disciplines, 46(10), 1057-1066.
134. Spiteri, E., Konopka, G., Coppola, G., Bomar, J., Oldham, M., Ou, J., et al. (2007). Identifi cation of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. American Journal of Human Genetics, 81(6), 1144-1157.
135. Stankiewicz, P., & Lupski, J. R. (2010). Structural variation in the human genome and its role in disease. Annual Review of Medicine, 61, 437-455.
136. Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S., Rujescu, D., et al. (2009). Common variants conferring risk of schizophrenia. Nature, 460(7256), 744-747.
137. Stein, M. B., Yang, B. Z., Chavira, D. A., Hitchcock, C. A., Sung, S. C., Shipon-Blum, E., et al. (2011). A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits. Biological Psychiatry, 69(9), 825-831.
138. Strauss, K. A., Puffenberger, E. G., Huentelman, M. J., Gottlieb, S., Dobrin, S. E., Parod, J. M., et al. (2006). Recessive symptomatic focal epilepsy and mutant contactinassociated protein-like 2. New England Journal of Medicine, 354(13), 1370-1377.
139. Szalkowski, C. E., Hinman, J. R., Threlkeld, S. W., Wang, Y., LePack, A., Rosen, G. D., et al. (2011). Persistent spatial working memory defi cits in rats following in utero RNAi of Dyx1c1. Genes Brain and Behavior, 10(2), 244-252.
140. Taipale, M., Kaminen, N., Nopola-Hemmi, J., Haltia, T., Myllyluoma, B., Lyytinen, H., et al. (2003). A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proceedings of the National Academy of Sciences of the United States of America, 100(20), 11553-11558.
141. Threlkeld, S. W., McClure, M. M., Bai, J., Wang, Y., LoTurco, J. J., Rosen, G. D., et al. (2007). Developmental disruptions and behavioral impairments in rats following in utero RNAi of Dyx1c1. Brain Research Bulletin, 71(5), 508-514.
142. Tomblin, J. B., O'Brien, M., Shriberg, L. D., Williams, C., Murray, J., Patil, S., et al. (2009). Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2. Journal of Speech, Language, and Hearing Research, 52(5), 1157-1174.
143. Toro, R., Konyukh, M., Delorme, R., Leblond, C., Chaste, P., Fauchereau, F., et al. (2010). Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends in Genetics, 26(8), 363-372.
144. Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., Reyniers, E., Fichera, M., et al. (2009). Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. European Journal of Medical Genetics, 52(2-3), 94-100.
145. Velayos-Baeza, A., Toma, C., da Roza, S., Paracchini, S., & Monaco, A. P. (2007). Alternative splicing in the dyslexia-associated gene KIAA0319. Mammalian Genome, 18(9), 627-634.
146. Velayos-Baeza, A., Toma, C., Paracchini, S., & Monaco, A. P. (2008). The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms. Human Molecular Genetics, 17(6), 859-871.
147. Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., et al. (2001). The sequence of the human genome. Science, 291(5507), 1304-1351.
148. Verkerk, A. J., Mathews, C. A., Joosse, M., Eussen, B. H., Heutink, P., & Oostra, B. A. (2003). CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics, 82(1), 1-9.
149. Vernes, S. C., MacDermot, K. D., Monaco, A. P., & Fisher, S. E. (2009). Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia. European Journal of Human Genetics, 17(10), 1354-1358.
150. Vernes, S. C., Newbury, D. F., Abrahams, B. S., Winchester, L., Nicod, J., Groszer, M., et al. (2008). A functional genetic link between distinct developmental language disorders. New England Journal of Medicine, 359(22), 2337-2345.
151. Vernes, S. C., Spiteri, E., Nicod, J., Groszer, M., Taylor, J. M., Davies, K. E., et al. (2007). High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. American Journal of Human Genetics, 81(6), 1232-1250.
152. Villanueva, P., Newbury, D. F., Jara, L., De Barbieri, Z., Mirza, G., Palomino, H. M., et al. (2011). Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population. European Journal of Human Genetics, 19(6), 687-695.
153. Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., et al. (2011). Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature, 474(7351), 380-384.
154. Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., et al. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature, 459(7246), 528-533.
155. Wang, Y., Paramasivam, M., Thomas, A., Bai, J., Kaminen-Ahola, N., Kere, J., et al. (2006). DYX1C1 functions in neuronal migration in developing neocortex. Neuroscience, 143(2), 515-522.
156. Wang, Y., Yin, X., Rosen, G., Gabel, L., Guadiana, S. M., Sarkisian, M. R., et al. (2011). Dcdc2 knockout mice display exacerbated developmental disruptions following knockdown of doublecortin. Neuroscience, 190, 398-408.
157. Weiss, L. A., Arking, D. E., Daly, M. J., & Chakravarti, A. (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature, 461(7265), 802-808.
158. Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., et al. (2008). Association between microdeletion and microduplication at 16p11.2 and autism. New England Journal of Medicine, 358(7), 667-675.
159. Wigg, K. G., Couto, J. M., Feng, Y., Anderson, B., Cate-Carter, T. D., Macciardi, F., et al. (2004). Support for EKN1 as the susceptibility locus for dyslexia on 15q21. Molecular Psychiatry, 9(12), 1111-1121.
160. Wigg, K. G., Feng, Y., Crosbie, J., Tannock, R., Kennedy, J. L., Ickowicz, A., et al. (2008). Association of ADHD and the Protogenin gene in the chromosome 15q21.3 reading disabilities linkage region. Genes Brain and Behavior, 7(8), 877-886.
161. Willcutt, E. G., Pennington, B. F., Duncan, L., Smith, S. D., Keenan, J. M., Wadsworth, S., et al. (2010). Understanding the complex etiologies of developmental disorders: Behavioral and molecular genetic approaches. Journal of Developmental and Behavioral Pediatrics, 31(7), 533-544.
162. Williams, J. C., Barratt-Boyes, B. G., & Lowe, J. B. (1961). Supravalvular aortic stenosis. Circulation, 24, 1311-1318.
163. Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., et al. (2010). Rare chromosomal deletions and duplications in attention-defi cit hyperactivity disorder: A genome-wide analysis. Lancet, 376(9750), 1401-1408.
164. Zahir, F. R., Baross, A., Delaney, A. D., Eydoux, P., Fernandes, N. D., Pugh, T., et al. (2008). A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. Journal of Medical Genetics, 45(4), 239-243.
165. Zeesman, S., Nowaczyk, M. J., Teshima, I., Roberts, W., Cardy, J. O., Brian, J., et al. (2006). Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. American Journal of Medical Genetics A, 140(5), 509-514.
166. Zhou, K., Dempfl e, A., Arcos-Burgos, M., Bakker, S. C., Banaschewski, T., Biederman, J., et al. (2008). Meta-analysis of genome-wide linkage scans of attention defi cit hyperactivity disorder. American Journal of Medical Genetics B Neuropsychiatric Genetics, 147B(8), 1392-1398.
167. Zweier, C., de Jong, E. K., Zweier, M., Orrico, A., Ousager, L. B., Collins, A. L., et al. (2009). CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. American Journal of Human Genetics, 85(5), 655-666.