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1. D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, HansonE, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A,Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F,Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE,Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C,Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ,Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK;Cardiff University Experiences of Children With Copy Number Variants (ECHO)Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP)Consortium. Defining the Effect of the 16p11.2 Duplication on Cognition,Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123.
2. Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P,Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S,Tucker E, Turner L, Marshall CR, Scherer SW. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individualsascertained for diagnosis of autism spectrum disorder. J Med Genet. 2010Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369.
3. Filges I, Sparagana S, Sargent M, Selby K, Schlade-Bartusiak K, Lueder GT,Robichaux-Viehoever A, Schlaggar BL, Shimony JS, Shinawi M. Brain MRIabnormalities and spectrum of neurological and clinical findings in threepatients with proximal 16p11.2 microduplication. Am J Med Genet A. 2014Aug;164A(8):2003-12. doi: 10.1002/ajmg.a.36605.
4. Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z,Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M,Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA,Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, JarvelinMR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van HaelstMM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y,Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M,Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D,Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, DavidA, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G,Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C,El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F,Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ,Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA,Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S,Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C,Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A,Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, PasquierL, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A,Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W,Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E,Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ,Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C,Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G,Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, BeckmannJS, Froguel P. Mirror extreme BMI phenotypes associated with gene dosage at thechromosome 16p11.2 locus. Nature. 2011 Aug 31;478(7367):97-102. doi:10.1038/nature10406.
5. McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, PerkinsDO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D,Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB,Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, VacicV, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS,Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, DerosseP, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB,Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V,Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR; WellcomeTrust Case Control Consortium, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH,Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, SebatJ. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet.2009 Nov;41(11):1223-7. doi: 10.1038/ng.474.
6. Rosenfeld JA, Coppinger J, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG,Ballif BC. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions andmicroduplications. J Neurodev Disord. 2010 Mar;2(1):26-38.
7. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, CraigenWJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, SavageS, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Recurrent reciprocal16p11.2 rearrangements associated with global developmental delay, behaviouralproblems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010May;47(5):332-41. doi: 10.1136/jmg.2009.073015.
8. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E,Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D,Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL,Daly MJ; Autism Consortium. Association between microdeletion andmicroduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974.