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1. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J,Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, EricksonRP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A,Lupski JR, Beaudet AL, Cheung SW. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndromeregion. Genet Med. 2007 Jul;9(7):427-41.
2. Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants atWilliams-Beuren syndrome 7q11.23 region. Hum Genet. 2010 Jul;128(1):3-26. doi:10.1007/s00439-010-0827-2.
3. Mervis CB, Klein-Tasman BP, Huffman MJ, Velleman SL, Pitts CH, Henderson DR,Woodruff-Borden J, Morris CA, Osborne LR. Children with 7q11.23 duplicationsyndrome: psychological characteristics. Am J Med Genet A. 2015Jul;167(7):1436-50. doi: 10.1002/ajmg.a.37071.
4. Mervis CB, Morris CA, Klein-Tasman BP, Velleman SL, Osborne LR. 7q11.23Duplication Syndrome. 2015 Nov 25. In: Adam MP, Ardinger HH, Pagon RA, WallaceSE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle(WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK327268/
5. Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF,Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR. 7q11.23 Duplicationsyndrome: Physical characteristics and natural history. Am J Med Genet A. 2015Dec;167A(12):2916-35. doi: 10.1002/ajmg.a.37340.
6. Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, AylsworthAS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SM. Aortopathy in the 7q11.23microduplication syndrome. Am J Med Genet A. 2015 Feb;167A(2):363-70. doi:10.1002/ajmg.a.36859.
7. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB,Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM,Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS,Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP,Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM,Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr,Geschwind D, Roeder K, Devlin B, State MW. Multiple recurrent de novo CNVs,including duplications of the 7q11.23 Williams syndrome region, are stronglyassociated with autism. Neuron. 2011 Jun 9;70(5):863-85. doi:10.1016/j.neuron.2011.05.002.
8. Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, PeregrineE, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Severeexpressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med. 2005 Oct 20;353(16):1694-701.
9. Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M,Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K,Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, PfundR, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP,Frints SG, de Vries BB, Ceulemans B, Kooy RF. Fourteen new cases contribute tothe characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet.2009 Mar-Jun;52(2-3):94-100. doi: 10.1016/j.ejmg.2009.02.006.
10. Velleman SL, Mervis CB. Children with 7q11.23 Duplication Syndrome: Speech,Language, Cognitive, and Behavioral Characteristics and their Implications forIntervention. Perspect Lang Learn Educ. 2011 Oct 1;18(3):108-116.