1. Inoue K, Lupski JR. Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet. 2002;3:199–242. [PubMed] 2. Valero MC, et al. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s) Genomics. 2000;69:1–13. [PubMed] 3. Osborne LR, et al. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet. 2001;29:321–325. [PMC free article] [PubMed] 4. Somerville MJ, et al. Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med. 2005;353:1694–1701. [PMC free article] [PubMed] 5. Bayes M, et al. Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet. 2003;73:131–151. [PubMed] 6. Mervis CB, Becerra A. Language and communicative development in Williams syndrome. Ment Retard Dev Disabil Res Rev. 2007;13:3–15. [PubMed] 7. Mervis CB, Klein-Tasman BP. Williams syndrome: cognition, personality, and adaptive behavior. Ment Retard Dev Disabil Res Rev. 2000;6:148–158. [PubMed]
8. Greenberg F. Williams syndrome professional symposium. Am J Med Genet Suppl. 1990;6:85–88.
9. Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002;17:269–271. [PubMed] 10. Ewart AK, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993;5:11–16. [PubMed] 11. Dutly F, Schinzel A. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet. 1996;5:1893–1898. [PubMed] 12. Urban Z, et al. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet. 1996;59:958–962. [PubMed] 13. Baumer A, et al. High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions. Hum Mol Genet. 1998;7:887–894. [PubMed] 14. Osborne LR, et al. PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Genomics. 1997;45:402–406. [PubMed] 15. Perez Jurado LA, et al. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet. 1998;7:325–334. [PubMed] 16. DeSilva U, et al. Molecular characterization of the mouse p47-phox (Ncf1) gene and comparative analysis of the mouse p47-phox (Ncf1) gene to the human NCF1 gene. Mol Cell Biol Res Commun. 2000;3:224–230. [PubMed]
17. Pober BR, Dykens EM. Williams syndrome: an overview of medical, cognitive, and behavioral features. Child Adolesc Psych Clinics N Am. 1996;5:929–943.
18. Morris CA, et al. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988;113:318–326. [PubMed]
19. Morris CA. The dysmorphology, genetics, and natural history of Williams-Beuren syndrome. In: Morris CA, Lenhoff H, Wang P, editors. Williams-Beuren Syndrome: Research, Evaluation, and Treatment. Johns Hopkins University Press; Baltimore, MD: 2006. pp. 3–17.
20. Mervis CB, Morris CA. Williams syndrome. In: Mazzocco MMM, Ross J, editors. Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood. MIT Press; Cambridge, MA: 2007. pp. 199–262.
21. Mervis CB, et al. The Williams syndrome cognitive profile. Brain Cogn. 2000;44:604–628. [PubMed]
22. Kaufman A, Kaufman N. Kaufman Brief Intelligence Test. American Guidance Services; Circle Pines, MN: 1990.
23. Elliott C. Differential Ability Scales. Psychological Corporation; San Antonio, TX: 1990.
24. Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci. 2006;7:380–393. [PubMed] 25. Klein-Tasman BP, Mervis CB. Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome. Dev Neuropsychol. 2003;23:269–290. [PubMed]
26. American Psychiatric Association. Diagnostic and Statistical Manual for Mental Disorders. 4. American Psychiatric Association; Washington, DC: 2000.
27. Leyfer OT, et al. Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. Am J Med Genet B Neuropsychiatr Genet. 2006;141:615–622. [PMC free article] [PubMed]
28. Bellugi U, et al. Dissociation between language and cognitive functions in Williams syndrome. In: Bishop D, Mogford K, editors. Language Development in Exceptional Circumstances. Churchill Livingstone; London: 1988. pp. 177–189.
29. Mervis CB. Williams syndrome: 15 years of psychological research. Dev Neuropsychol. 2003;23:1–12. [PubMed]
30. Bellugi U, Wang P, Jernigan T. Williams syndrome: an unusual neuropsychological profile. In: Broman S, Grafman J, editors. Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function. Erlbaum; Hillsdale, NJ: 1994. pp. 23–56.
31. Clahsen H, Almazan M. Syntax and morphology in Williams syndrome. Cognition. 1998;68:167–198. [PubMed] 32. Bellugi U, et al. I. The neurocognitive profile of Williams Syndrome: a complex pattern of strengths and weaknesses. J Cogn Neurosci. 2000;12(Suppl 1):7–29. [PubMed]
33. Clahsen H, Ring M, Temple C. Lexical and morphological skills in English-speaking children with Williams syndrome. Essex Research Reports in Linguistics. 2003;43:1–27.
34. Masataka N. Why early linguistic milestones are delayed in children with Williams syndrome: late onset of hand banging as a possible rate-limiting constraint on the emergence of canonical babbling. Developmental Science. 2001;4:158–164.
35. Velleman S, et al. In: Horga D, Mildner V, editors. Phonological development in Williams syndrome; Proceedings of the International Clinical Phonetics and Linguistics Association; 31 May– 3 June 2006; Dubrovnik, Croatia. Zagreb, Croatia: FF Press; 2006.
36. Nazzi T, Paterson S, Karmiloff-Smith A. Early word segmentation by infants and toddlers with Williams syndrome. Infancy. 2003;4:251–271.
37. Mervis CB, Robinson BF. Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison. Dev Neuropsychol. 2000;17:111–126. [PubMed] 38. Glenn S, Cunningham C. Performance of young people with Down syndrome on the Leiter-R and British picture vocabulary scales. J Intellect Disabil Res. 2005;49:239–244. [PubMed]
39. Klein BP, Mervis CB. Contrasting patterns of cognitive abilities of 9- and 10-year-olds with Williams syndrome or Down syndrome. Dev Neuropsychol. 1999;16:177–196.
40. Mervis CB. Language ability es in Williams-Beuren syndrome. In: Morris CA, Lenhoff H, Wang P, editors. Williams-Beuren syndrome: Research, Evaluation, and Treatment. Johns Hopkins University Press; Baltimore, MD: 2006. pp. 159–206.
41. Vicari S, et al. Neuropsychological profile of Italians with Williams syndrome: an example of a dissociation between language and cognition? J Int Neuropsychol Soc. 2004;10:862–876. [PubMed] 42. Udwin O, Yule W. Expressive language of children with Williams syndrome. Am J Med Genet Suppl. 1990;6:108–114. [PubMed] 43. Grant J, Valian V, Karmiloff-Smith A. A study of relative clauses in Williams syndrome. J Child Lang. 2002;29:403–416. [PubMed]
44. Zukowski A. Investigating knowledge of complex syntax: insights from experimental studies of Williams syndrome. In: Rice M, Warren S, editors. Developmental Language Disorders: From Phenotypes to Etiologies. MIT Press; Cambridge, MA: 2004. pp. 99–119.
45. Gosch A, Stading G, Pankau R. Linguistic abilities in children with Williams-Beuren syndrome. Am J Med Genet. 1994;52:291–296. [PubMed]
46. Lukács Á. Language Abilities in Williams syndrome. Akadémiai Kiadó; Budapest, Hungary: 2005.
47. Volterra V, et al. Linguistic abilities in Italian children with Williams syndrome. Cortex. 1996;32:663–677. [PubMed] 48. Volterra V, et al. Early linguistic abilities of Italian children with Williams syndrome. Dev Neuropsychol. 2003;23:33–58. [PubMed]
49. Mervis CB, et al. Language abilities of people with Williams syndrome. In: Abbeduto L, editor. International Review of Research in Mental Retardation. Academic Press; Orlando, FL: 2003. pp. 35–81.
50. Karmiloff-Smith A, et al. Language and Williams syndrome: how intact is “intact”? Child Dev. 1997;68:246–262. [PubMed] 51. Levy Y, Hermon S. Morphological abilities of Hebrew-speaking adolescents with Williams syndrome. Dev Neuropsychol. 2003;23:59–83. [PubMed] 52. Robinson BF, Mervis CB, Robinson BW. The roles of verbal short-term memory and working memory in the acquisition of grammar by children with Williams syndrome. Dev Neuropsychol. 2003;23:13–31. [PubMed]
53. Laing E, et al. Atypical development of language and social communication in toddlers with Williams syndrome. Developmental Science. 2002;5:233–246.
54. Lord C, et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000;30:205–223. [PubMed] 55. Klein-Tasman BP, et al. Socio-communicative deficits in young children with Williams syndrome: Performance on the Autism Diagnostic Observation Schedule. Child Neuropsychology. in press. [PubMed] 56. Bishop DV. Development of the Children’s Communication Checklist (CCC): a method for assessing qualitative aspects of communicative impairment in children. J Child Psychol Psychiatry. 1998;39:879–891. [PubMed] 57. Laws G, Bishop D. Pragmatic language impairment and social deficits in Williams syndrome: a comparison with Down’s syndrome and specific language impairment. Int J Lang Commun Disord. 2004;39:45–64. [PubMed]
58. Mervis CB. The Williams syndrome cognitive profile: strengths, weaknesses, and interrelations among auditory short term memory, language, and visuospatial constructive cognition. In: Winograd E, Fivush R, Hirst W, editors. Ecological Approaches to Cognition: Essays in Honor of Ulric Neisser. Erlbaum; Mahwah, NJ: 1999. pp. 193–227.
59. Curran ME, et al. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell. 1993;73:159–168. [PubMed] 60. Li DY, et al. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet. 1997;6:1021–1028. [PubMed] 61. Tassabehji M, et al. Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet. 1997;6:1029–1036. [PubMed] 62. Metcalfe K, et al. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet. 2000;8:955–963. [PubMed] 63. Botta A, et al. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. J Med Genet. 1999;36:478–480. [PMC free article] [PubMed] 64. Heller R, et al. Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome. J Med Genet. 2003;40:e99. [PMC free article] [PubMed] 65. Frangiskakis JM, et al. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell. 1996;86:59–69. [PubMed] 66. Tassabehji M, et al. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet. 1999;64:118–125. [PubMed] 67. Gagliardi C, et al. Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion. J Med Genet. 2003;40:526–530. [PMC free article] [PubMed] 68. Hirota H, et al. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med. 2003;5:311–321. [PubMed] 69. Morris CA, et al. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet A. 2003;123:45–59. [PubMed] 70. Tassabehji M, et al. GTF2IRD1 in craniofacial development of humans and mice. Science. 2005;310:1184–1187. [PubMed] 71. Howald C, et al. Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J Med Genet. 2006;43:266–273. [PMC free article] [PubMed] 72. Tassabehji M, et al. Gene dosage and Williams syndrome. Presented at the International Congress of Human Genetics; 6–10 August 2006; Brisbane, Australia. 2006. http://www.ichg2006.com/abstract/1137.htm. 73. van Hagen JM, et al. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome. Neurobiol Dis. 2007;26:112–124. [PubMed] 74. Edelmann L, et al. An atypical deletion of the Williams-Beuren Syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet. 2007;44:136–143. [PMC free article] [PubMed] 75. Li DY, et al. Novel arterial pathology in mice and humans hemizygous for elastin. J Clin Invest. 1998;102:1783–1787. [PMC free article] [PubMed] 76. Hoogenraad CC, et al. Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice. Nat Genet. 2002;32:116–127. [PubMed] 77. Meng Y, et al. Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice. Neuron. 2002;35:121–133. [PubMed] 78. Meyer-Lindenberg A, et al. Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Neuron. 2004;43:623–631. [PubMed] 79. Boddaert N, et al. Parieto-occipital grey matter abnormalities in children with Williams syndrome. Neuroimage. 2006;30:721–725. [PubMed] 80. Kippenhan JS, et al. Genetic contributions to human gyrification: sulcal morphometry in Williams syndrome. J Neurosci. 2005;25:7840–7846. [PubMed] 81. American Academy of pediatrics committee on Genetics DC. Towards a quantitative, probabilistic neuroanatomy of cerebral cortex. Cortex. 2004;40:211–212. [PubMed] 82. Meyer-Lindenberg A, et al. Neural correlates of genetically abnormal social cognition in Williams syndrome. Nat Neurosci. 2005;8:991–993. [PubMed] 83. American Academy of Pediatrics Committee on Genetics. Healthcare supervision for children with Williams syndrome. Pediatrics. 2001;107:1192–1204. [PubMed] 84. Cherniske EM, et al. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A. 2004;131:255–264. [PubMed] 85. Meyer-Lindenberg A, et al. Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 2005;115:1888–1895. [PMC free article] [PubMed] 86. Tan-Sindhunata G, et al. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. Am J Med Genet. 2000;92:147–152. [PubMed] 87. Velagaleti GV, et al. De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature. Clin Genet. 2002;61:202–206. [PubMed] 88. Chantot-Bastaraud S, et al. Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases. Ann Genet. 2004;47:241–249. [PubMed] 89. Lichtenbelt KD, et al. Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. Am J Med Genet A. 2005;132:93–100. [PubMed] 90. von Beust G, et al. Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay. Am J Med Genet A. 2005;137:59–64. [PubMed] 91. Berg J, et al. Severe language delay associated with duplication of the Williams-Beuren critical region. Presented at The American Society of Human Genetics; 9–13 October 2006; New Orleans, LA, USA. 2006. http://www.ashg.org/genetics/ashg06s/index.shtml(Program number 86) 93. Jayakar P, et al. A female patient with Aicardi syndrome and duplication of Williams syndrome critical region (7q11.23). Presented at The American Society of Human Genetics; 9–13 October 2006; New Orleans, LA, USA. 2006. http://www.ashg.org/genetics/ashg06s/index.shtml (Program number 793) 94. Kriek M, et al. Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet. 2006;14:180–189. [PubMed] 95. Kirchhoff M, et al. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beurensyndromeregions. Eur J Med Genet. 2007;50:33–42. [PubMed] 96. Torniero C, et al. Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. Eur J Hum Genet. 2007;15:62–67. [PubMed] 97. Depienne C, et al. Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet. 2007 Mar 30; [Epub ahead of print] [PMC free article] [PubMed]
98. Bishop DVM. Uncommon Understanding: Development and Disorders of Language Comprehension in Children. Psychology Press; Hove, UK: 1997.
99. Dale PS, et al. Genetic influence on language delay in two-year-old children. Nat Neurosci. 1998;1:324–328. [PubMed] 100. Lewis BA, Thompson LA. A study of developmental speech and language disorders in twins. J Speech Hear Res. 1992;35:1086–1094. [PubMed] 101. Bishop DV, North T, Donlan C. Genetic basis of specific language impairment: evidence from a twin study. Dev Med Child Neurol. 1995;37:56–71. [PubMed] 102. Tomblin JB, Buckwalter PR. Heritability of poor language achievement among twins. J Speech Lang Hear Res. 1998;41:188–199. [PubMed] 103. Fisher SE, Lai CS, Monaco AP. Deciphering the genetic basis of speech and language disorders. Annu Rev Neurosci. 2003;26:57–80. [PubMed] 104. SLI Consortium. A genomewide scan identifies two novel loci involved in specific language impairment. Am J Hum Genet. 2002;70:384–398. [PubMed] 105. SLI Consortium. Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. Am J Hum Genet. 2004;74:1225–1238. [PubMed] 106. Lai CS, et al. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature. 2001;413:519–523. [PubMed] 107. MacDermot KD, et al. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet. 2005;76:1074–1080. [PubMed] 108. Feuk L, et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet. 2006;79:965–972. [PubMed] 109. Shriberg LD, et al. Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. J Speech Lang Hear Res. 2006;49:500–525. [PubMed] 110. Zeesman S, et al. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A. 2006;140:509–514. [PubMed] 111. Lennon PA, et al. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review. Am J Med Genet A. 2007;143:791–798. [PubMed] 112. Shu W, et al. Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. Proc Natl Acad Sci U S A. 2005;102:9643–9648. [PubMed]
113. Scherer SW, Osborne LR. Williams-Beuren syndrome. In: Stankiewicz PT, Lupski JR, editors. Genomic Disorders: The Genomic Basis of Disease. Humana Press; Totowa, NJ: 2007. pp. 221–236.