Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia

Cytogenetic and Genome Research

Volumn 135, Issue 3-4, 2011, Pages 228-240

  Poot, M ^a   Van Der Smagt, J J ^a   Brilstra, E H ^a   Bourgeron, T ^b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b INSTITUT PASTEUR   (France)

Author keywords

Autism; AUTS2; CNTNAP2; Copy number variations; Diagnostic fatalism; Epilepsy; Epistasis; GRIN2B; MCPH1; Schizophrenia

Indexed keywords

ALLELE; ARTICLE; AUTISM; AUTS2 GENE; CHROMOSOME 15Q; CNTNAP2 GENE; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; EPISTASIS; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOMICS; GRIN2B GENE; HEMIZYGOSITY; HUMAN; MCPH1 GENE; MICROARRAY ANALYSIS; MOSAICISM; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SCHIZOPHRENIA;

AUTISTIC DISORDER; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; EPILEPSY; EPISTASIS, GENETIC; GENES, RECESSIVE; GENETIC PLEIOTROPY; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HUMANS; SCHIZOPHRENIA;

EID: 83555168191     PISSN: 14248581     EISSN: 14219794     Source Type: Journal    
DOI: 10.1159/000334064     Document Type: Article

References (119)

1. Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, et al: Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 82: 165-173 (2008). (Pubitemid 351735952)
2. Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, et al: 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet 16: 18-27 (2008). (Pubitemid 350269235)
3. Bedogni F, Hodge RD, Elsen GE, Nelson BR, Daza RA, et al: Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex. Proc Natl Acad Sci USA 107: 13129-13134 (2010a).
4. Bedogni F, Hodge RD, Nelson BR, Frederick EA, Shiba N, et al: Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology. Gene Expr Patterns 10: 9-15 (2010b).
5. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, et al: Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 46: 382-388 (2009a).
6. Ben-Shachar S, Khajavi M, Withers MA, Shaw CA, van Bokhoven H, et al: Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? Clin Genet 75: 394-400 (2009b).
7. Bisgaard AM, Kirchhoff M, Nielsen JE, Kibaek M, Lund A, et al: Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukocystrophy. Clin Genet 75: 175-179 (2009).
8. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, et al: Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 3: 1326-1342 (2010).
9. Buysse K, Vergult S, Mussche S, Ceuterick-de groote C, Speleman F, et al: Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. Am J Med Genet Part A 152A:2802-2804 (2010).
10. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al: Origins and functional impact of copy number variation in the human genome. Nature 464: 704-712 (2010).
11. Cook EH Jr, Scherer SW: Copy-number variations associated with neuropsychiatric conditions. Nature 455: 919-923 (2008).
12. Cooper GM, Stone EA, Asimenos G, NISC Comparative Sequencing Program, Green ED, et al: Distribution and intensity of constraint in mammalian genomic sequence. Genome Res15: 901-913 (2005). (Pubitemid 40994210)
13. Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, et al: A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet 47: 823-828 (2010).
14. Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A, et al: Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol 6:e1001025 (2010).
15. de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, et al: Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133: 23-32 (2010).
16. Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, et al: Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 18: 3626-3631 (2009).
17. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, et al: Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39: 25-27 (2007). (Pubitemid 46026497)
18. Elia J, Gai X, Xie HM, Perin JC, Geiger E, et al: Rare structural variants found in attentiondeficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 15: 637-646 (2010).
19. Endele S, Rosenberger G, Geider K, Popp B, Tamer C, et al: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42: 1021-1026 (2010).
20. Esumi S, Kakazu N, Taguchi Y, Hirayama T, Sasaki A, et al: Monoallelic yet combinatorial expression of variable exons of the protocadherin-alpha gene cluster in single neurons. Nat Genet 37: 171-176 (2005).
21. Flipsen-ten Berg K, van Hasselt PM, Eleveld MJ, van der Wijst SE, Hol FA, et al: Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. Eur J Hum Genet 15: 1132-1138 (2007). (Pubitemid 350011678)
22. Freitag CM: The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 12: 2-22 (2006).
23. Friedman JI, Vrijenhoek T, Markx S, Janssen IM, van der Vliet WA, et al: CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry 13: 261-266 (2008). (Pubitemid 351272653)
24. Friedrich K, Lee L, Leistritz D, Nürnberg G, Saha B, et al: WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet 128: 103-111 (2010).
25. Fridman C, Hosomi N, Varela MC, Souza AH, Fukai K, et al: Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am J Med Genet Part A 119A:180-183 (2003). (Pubitemid 37063890)
26. Fullston T, Gabb B, Callen D, Ullmann R, Woollatt E, et al: Inherited balanced translocation t(9; 17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia. Am J Med Genet B Neuropsychiatr Genet 156: 204-214 (2011).
27. Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, et al: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 118: 708-715 (2006). (Pubitemid 43225016)
28. Ghai SJ, Shago M, Shroff M, Yoon G: Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6 . Eur J Med Genet 54: 272-276 (2011).
29. Gillberg C, Coleman M: The Biology of the Autistic Syndromes, 3rd ed. (Mac Ketith Press, London 2000).
30. Gilman SR, Iossifov I, Levy D, Ronemus M, Wigler M, et al: Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 70: 898-907 (2011).
31. Gimelbrant A, Hutchinson JN, Thompson BE, Chess A: Widespread monoallelic expression on human autosomes. Science 318: 1136-1140 (2007). (Pubitemid 350134896)
32. Girirajan S, Eichler EE: Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19:R176-187 (2010).
33. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, et al: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42: 203-209 (2010).
34. Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, et al: Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur J Hum Genet 17: 37-43 (2009).
35. Gothelf D, Eliez S, Thompson T, Hinard C, Penniman L, et al: COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nature Neurosci 8: 1500-1502 (2005). (Pubitemid 41573663)
36. Grantham R: Amino acid difference formula to help explain protein evolution. Science 185: 862-864 (1974).
37. Greenwood TA, Braff DL, Light GA, Cadenhead KS, Calkins ME, et al: Initial heritability analyses of endophenotypic measures for schizophrenia: the consortium on the genetics of schizophrenia. Arch Gen Psychiatry 64: 1242-1250 (2007). (Pubitemid 350074822)
38. Gregg C, Zhang J, Weissbourd B, Luo S, Schroth GP, et al: High-resolution analysis of parentof-origin allelic expression in the mouse brain. Science 329: 643-648 (2010a).
39. Gregg C, Zhang J, Butler JE, Haig D, Dulac C: Sex-specific parent-of-origin allelic expression in the mouse brain. Science 329: 682-685 (2010b).
40. Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, et al: 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 41: 160-162 (2009).
41. Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, et al: Discovery of pathogenic variants unmasked by inherited deletions. Eur J Hum Genet, in press (2011).
42. Hollox EJ, Barber JC, Brookes AJ, Armour JA: Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1. Genome Res 18: 1686-1697 (2008).
43. Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM: A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Am J Med Genet A 152A:2112-2114 (2010).
44. Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, et al: Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3 . Eur J Hum Genet 19: 757-762 (2011).
45. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241 (2008).
46. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, et al: Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84: 148-161 (2009).
47. Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, et al: De novo rates and selection of large copy number variation. Genome Res. 20: 1469-1481 (2010).
48. Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, et al: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34: 27-29 (2003). (Pubitemid 36548785)
49. Jeffers LJ, Coull BJ, Stack SJ, Morrison CG: Distinct BRCT domains in Mcph1/Brit1 mediate ionizing radiation-induced focus formation and centrosomal localization. Oncogene 27: 139-144 (2008).
50. Jones MB, Szatmari P: A risk-factor model of epistatic interaction, focusing on autism. Am J Med Genet 114: 558-565 (2002). (Pubitemid 34680585)
51. Joziasse IC, van der Smagt JJ, Poot M, Hochstenbach R, Nelen MR, et al: A duplication including GATA4 does not co-segregate with congenital heart defects. Am J Med Genet A 149A:1062-1066 (2009).
52. Kabuki T, Kawei T, Kin Y, Joh K, Ohashi H, et al: A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease. Nihon Rinsho Meneki Gakkai Kaishi 26: 299-303 (2003).
53. Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, et al: Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet 121: 501-509 (2007). (Pubitemid 46554687)
54. Kaneko R, Kato H, Kawamura Y, Esumi S, Hirayama T, et al: Allelic gene regulation of Pcdh - α and Pcdh - γ clusters involving both monoallelic and biallelic expression in single Purkinje cells. J Biol Chem 281: 30551-30560 (2006). (Pubitemid 44582111)
55. Kinning E, Tufarelli C, Winship WS, Aldred MA, Trembath RC: Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder. J Med Genet 42:e70 (2005).
56. Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, et al: A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38: 999-1001 (2006). (Pubitemid 44325923)
57. Kringlen E: Twin studies in schizophrenia with special emphasis on concordance figures. Am J Med Genet 97: 4-11 (2000). (Pubitemid 30257321)
58. Ku CS, Naidoo N, Pawitan Y: Revisiting Mendelian disorders through exome sequencing. Hum Genet 129: 351-370 (2011).
59. Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, et al: Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med 7: 479-483 (2005). (Pubitemid 41445488)
60. Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, et al: Genetic and functional analyses of SHANK2 mutations support a multiple hit model of autism spectrum disorders. PLoS Genetics, in press (2011).
61. Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, et al: Mutations of the P gene in oculocutaneous albinism and Prader-Willi syndrome plus albinism. New Eng J Med 330: 529-534 (1994). (Pubitemid 24058955)
62. Leinekugel P, Michel S, Conzelmann E, Sandhoff K: Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 88: 513-523 (1992).
63. Lesnik Oberstein SAJ, Kriek M, White SJ, Kalf ME, Szuhai K, et al: Peters Plus syndrome is caused by mutations in B3GALTL , a putative glycosyltransferase. Am J Hum Genet 79: 562-565 (2006).
64. Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, et al: Rare de novo and transmitted copynumber variation in autistic spectrum disorders. Neuron 70: 886-897 (2011).
65. Liburd N, Ghosh M, Riazuddin S, Khan S, Ahmed Z, et al: Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet 109: 535-541 (2001). (Pubitemid 33089313)
66. Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, et al: Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibβ promoter resulting in the Bernard-Soulier syndrome. J Biol Chem 271: 22076-22080 (1996). (Pubitemid 26303836)
67. Magnée MJ, Kahn RS, Cahn W, Kemner C: More prolonged brain activity related to gaze cueing in schizophrenia. Clin Neurophysiol 122: 506-511 (2011).
68. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, et al: Finding the missing heritability of complex diseases. Nature 461: 747-753 (2009).
69. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, et al: Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82: 477-488 (2008).
70. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, et al: Recurrent rearrangements of 1q21.1 associated with variable pediatric phenotypes. New England J Med 359: 1685-1699 (2008).
71. Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, et al: Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6:e1000962 (2010).
72. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, et al: Microdeletion/duplication at 15q13. 2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 46: 242-248 (2009).
73. Mitchell KJ, Porteous DJ: Rethinking the genetic architecture of schizophrenia. Psychol Med 41: 19-32 (2011).
74. Moser MJ, Kamath-Loeb AS, Jacob JE, Bennett SE, Oshima J, et al: WRN helicase expression in Werner syndrome cell lines. Nucleic Acids Res 28: 648-654 (2000). (Pubitemid 30058008)
75. Mukamel Z, Konopka G, Wexler E, Osborn GE, Dong H, et al: Regulation of MET by FOXP2 , genes implicated in higher cognitive dysfunction and autism risk. J Neurosci 31: 11437-11442 (2011).
76. Newbury DF, Monaco AP: Genetic advances in the study of speech and language disorders. Neuron 68: 309-320 (2010).
77. Newbury DF, Fisher SE, Monaco AP: Recent advances in the genetics of language impairment. Genome Med 2: 6 (2010).
78. Nishiyama T, Notohara M, Sumi S, Takami S, Kishino H: Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families. J Hum Genet 54: 721-726 (2009).
79. O'Driscoll M, Jackson AP, Jeggo PA: Microcephalin: a causal link between impaired damage response signalling and microcephaly. Cell Cycle 5: 2339-2344 (2006). (Pubitemid 44785842)
80. O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA: Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am J Hum Genet 81: 77-86 (2007). (Pubitemid 47001158)
81. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, et al: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 43: 585-589 (2011).
82. Özgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, et al: Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. Clin Genet 76: 348-356 (2009).
83. Pagnamenta AT, Wing K, Sadighi Akha E, Knight SJ, Bölte S, et al: A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet 17: 687-692 (2009).
84. Petrin AL, Giacheti CM, Maximino LP, Abramides DV, Zanchetta S, et al.; Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. Am J Med Genet A 152A:3164-3172 (2010).
85. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, et al: Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368-372 (2010).
86. Poot M, Eleveld MJ, Van't Slot R, Ploos van Amstel HK, Hochstenbach R: Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex. Eur J Hum Genet 18: 39-46 (2010a).
87. Poot M, Beyer V, Schwaab I, Damatova N, Van't Slot R, et al: Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics 11: 81-89 (2010b).
88. Poot M, Badea A, Williams RW, Kas MJ: Identifying human disease genes through crossspecies gene mapping of evolutionary conserved processes. PLoS One 6:e18612 (2011).
89. Quemener S, Chen JM, Chuzhanova N, Bénech C, Casals T, et al: Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Hum Mutat 31: 421-428 (2010).
90. Reddy KS: Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Med Genet 6: 3 (2005).
91. Riley D, Wiznitzer M, Schwartz S, Zinn AB: A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease. Neurology 57: 141-143 (2001). (Pubitemid 32634867)
92. Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, et al: Cohen syndrome diagnosis using whole genome arrays. J Med Genet. 48: 136-140 (2011).
93. Roll P, Vernes SC, Bruneau N, Cillario J, Ponsole-Lenfant M, et al: Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Hum Mol Genet 19: 4848-4860 (2010).
94. Rooryck C, Morice-Picard F, Lasseaux E, Cailley D, Dollfus H, et al: High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients. Hum Genet 129: 199-208 (2011).
95. Rujescu D, Ingason A, Cichon S, Pietiläinen OP, Barnes MR, et al: Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 18: 988-996 (2009).
96. Shaikh TH, Haldeman-Englert C, Geiger EA, Ponting CP, Webber C: Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes. Hum Mol Genet 20: 880-893 (2011).
97. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, et al: Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38: 1038-1042 (2006). (Pubitemid 44325929)
98. Slavotinek AM: Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124: 1-17 (2008).
99. Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, et al: Large recurrent microdeletions associated with schizophrenia. Nature 455: 232-236 (2008).
100. Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, et al: Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. Eur J Hum Genet 16: 880-887 (2008).
101. Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, et al: Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet 26: 363-372 (2010).
102. Tsai AC, Dossett C, Walton CS, Cramer A, Eng PA, et al: Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur J Hum Genet 19: 43-49 (2011).
103. van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, et al: Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 46: 511-523 (2009).
104. van Daalen E, Kemner C, Verbeek NE, van der Zwaag B, Dijkhuizen T, et al: Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. Neurogenetics, in press (2011).
105. van der Zwaag B, Staal WG, Hochstenbach R, Poot M, Spierenburg HA, et al: A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 153B:960-966 (2010).
106. Veitia RA: Exploring the etiology of haploinsufficiency. Bioessays 24: 175-184 (2002). (Pubitemid 34179296)
107. Veitia RA, Birchler JA: Dominance and gene dosage balance in health and disease: why levels matter! J Pathol 220: 174-85 (2010).
108. Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, et al: Tourette Syndrome Association International Consortium for Genetics. CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 82: 1-9 (2003). (Pubitemid 36693915)
109. Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, et al: A functional genetic link between distinct developmental language disorders. N Engl J Med 359: 2337-2345 (2008).
110. Visscher PM, Goddard ME, Derks EM, Wray NR: Evidence-based psychiatric genetics, AKA the falso dichotomy between common and rare variant hypotheses. Mol Psychiat Doi: 10.1038/mp.2011.65. [Epub ahead of print] (2011).
111. Vlamings PH, Jonkman LM, van Daalen E, van der Gaag RJ, Kemner C: Basic abnormalities in visual processing affect face processing at an early age in autism spectrum disorder. Biol Psychiatry 68: 1107-1113 (2010).
112. Vorsanova SG, Voinova VY, Yurov IY, Kurinnaya OS, Demidova IA, et al: Cytogenetic, molecular-cytogenetic, and clinical-genealogical studies of the mothers of children with autism: a search for familial genetic markers for autistic disorders. Neurosci Behav Physiol 40: 745-756 (2010).
113. Vorstman JA, van Daalen E, Jalali GR, Schmid ER, Pastekamp RJ, et al: A double hit implicates DIAPH3 as an autism risk gene. Molec Psych 16: 442-451 (2011).
114. Webber C, Hehir-Kwa JY, Nguyen DQ, de Vries BB, Veltman JA, et al: Forging links between human mental retardation-associated CNVs and mouse gene knockout models. PLoS Genet 5:e1000531 (2009).
115. Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, et al: Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet 376: 1401-1408 (2010).
116. Wiśniowiecka-Kowalnik B, Nesteruk M, Peters SU, Xia Z, Cooper ML, et al: Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet B Neuropsychiatr Genet 153: 983-993 (2010).
117. Wood JL, Singh N, Mer G, Chen J: MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage. J Biol Chem 282: 35416-35423 (2007). (Pubitemid 350232410)
118. Wray NR, Visscher PM: Narrowing the boundaries of the genetic architecture of schizophrenia. Schizophr Bull 36: 14-23 (2010).
119. Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, et al: A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci USA 104: 12831-12836 (2007). (Pubitemid 47255240)