1 | AUTS17, SHANK2
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| Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
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| Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA.
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| Nat Genet 42(6):489-91. Epub 2010 May 16.PMID: 20473310 2010
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2 | AUTS17, DEL16P112P, DUP16P112P
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| Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
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| Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA.
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| Eur J Med Genet 52(2-3):77-87. Epub 2009 Mar 21. 2009
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3 | AUTS17, DEL16P112P, DEL16P12
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| Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.
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| Battaglia A, Novelli A, Bernardini L, Igliozzi R, Parrini B.
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| Am J Med Genet A 149A(6):1200-4. 2009
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4 | AUTS17, DEL16P112P, DUP16P112P
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| Phenotypic Spectrum Associated with De Novo and Inherited Deletions and Duplications at 16p11.2 in Individuals Ascertained for Diagnosis of Autism Spectrum Disorder.
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| 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.
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| J Med Genet Med Genet. 2009 Sep 24. [Epub ahead of print] 2009
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5 | AUTS1, AUTS10, AUTS11P, AUTS17, AUTS18, AUTS19, AUTS2, AUTS20, AUTS3, AUTS4, AUTS5, AUTS7, AUTS9, AUTSX1, AUTSX2, AUTSX3, SEMA5A
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| A genome-wide linkage and association scan reveals novel loci for autism.
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| Weiss LA, Arking DE; Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti A.
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| Nature 461(7265):802-8. 2009
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6 | AUTS17, DEL16P112P, DUP16P112P, SCZD27
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| Microduplications of 16p11.2 are associated with schizophrenia.
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| McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, 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, Vacic V, 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, Derosse P, 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; Wellcome Trust 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, Sebat J.
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| Nat Genet 41(11):1223-7. Epub 2009 Oct 25. 2009
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7 | AUTS17, DEL16P112P, DEL16P12
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| Recurrent 16p11.2 microdeletions in autism.
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| Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL.
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| Hum Mol Genet 17(4):628-38. Epub 2007 Dec 21. 2008
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8 | AUTS17, DEL16P112P, DEL16P12, DUP16P112P
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| Association between Microdeletion and Microduplication at 16p11.2 and Autism.
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| 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; the Autism Consortium.
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| N Engl J Med [Epub ahead of print] 2008
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9 | AUTS1, AUTS10, AUTS17, AUTS18, AUTS19, AUTS2, AUTS20, AUTS3, AUTS4, AUTS5, AUTS6, AUTS7, AUTS9
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| Advances in autism genetics: on the threshold of a new neurobiology.
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| Abrahams BS, Geschwind DH.
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| Nat Rev Genet 9(5):341-55. 2008
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10 | AUTS17, RBFOX1
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| Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.
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| Martin CL, Duvall JA, Ilkin Y, Simon JS, Arreaza MG, Wilkes K, Alvarez-Retuerto A, Whichello A, Powell CM, Rao K, Cook E, Geschwind DH.
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| Am J Med Genet B Neuropsychiatr Genet 144(7):869-76. 2007
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11 | AUTS17, AUTS4
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| Autism and cytogenetic abnormalities: solving autism one chromosome at a time.
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| Martin CL, Ledbetter DH.
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| Curr Psychiatry Rep 9(2):141-7. Review. 2007
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12 | AUTS1, AUTS10, AUTS17, AUTS18, AUTS19, AUTS2, AUTS20, AUTS3, AUTS4, AUTS5, AUTS6, AUTS7, AUTS9
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| Searching for ways out of the autism maze: genetic, epigenetic and environmental clues.
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| Persico AM, Bourgeron T.
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| Trends Neurosci 29(7):349-58. Epub 2006 Jun 30. Review. 2006
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13 | ABAT, AUTS17, DEL16P112P, GRIN2A
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| Candidate-Gene Screening and Association Analysis at the Autism-Susceptibility Locus on Chromosome 16p: Evidence of Association at GRIN2A and ABAT.
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| Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Mott R, Lamb J, Bailey AJ, Monaco AP; International Molecular Genetics Study of Autism Consortium.
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| Am J Hum Genet 76(6):950-66. Epub 2005 Apr 13. 2005
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14 | AUTS9, AUTS5, AUTS17
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| A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.
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| International Molecular Genetic Study of Autism Consortium (IMGSAC).
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| Am J Hum Genet 69(3):570-81. Epub 2001 Jul 30. 2001
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