{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T08:52:32Z","timestamp":1775638352983,"version":"3.50.1"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2012,10,17]],"date-time":"2012-10-17T00:00:00Z","timestamp":1350432000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2013,7]]},"DOI":"10.1038\/ejhg.2012.235","type":"journal-article","created":{"date-parts":[[2012,10,17]],"date-time":"2012-10-17T10:40:59Z","timestamp":1350470459000},"page":"757-761","source":"Crossref","is-referenced-by-count":23,"title":["Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements"],"prefix":"10.1038","volume":"21","author":[{"given":"Silvana","family":"Beri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Clara","family":"Bonaglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Giorda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,10,17]]},"reference":[{"key":"BFejhg2012235_CR1","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1038\/ng1416","volume":"36","author":"AJ Iafrate","year":"2004","unstructured":"Iafrate AJ, Feuk L, Rivera MN et al: Detection of large-scale variation in the human genome. Nat Genet 2004; 36: 949\u2013951.","journal-title":"Nat Genet"},{"key":"BFejhg2012235_CR2","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1126\/science.1098918","volume":"305","author":"J Sebat","year":"2004","unstructured":"Sebat J, Lakshmi B, Troge J et al: Large-scale copy number polymorphism in the human genome. Science 2004; 305: 525\u2013528.","journal-title":"Science"},{"key":"BFejhg2012235_CR3","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1038\/ng1562","volume":"37","author":"E Tuzun","year":"2005","unstructured":"Tuzun E, Sharp AJ, Bailey JA et al: Fine-scale structural variation of the human genome. Nat Genet 2005; 37: 727\u2013732.","journal-title":"Nat Genet"},{"key":"BFejhg2012235_CR4","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1146\/annurev.genom.9.081307.164217","volume":"10","author":"F Zhang","year":"2009","unstructured":"Zhang F, Gu W, Hurles ME et al: Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 2009; 10: 451\u2013481.","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"BFejhg2012235_CR5","doi-asserted-by":"publisher","first-page":"e19","DOI":"10.1136\/jmg.2005.037671","volume":"43","author":"R Ciccone","year":"2006","unstructured":"Ciccone R, Mattina T, Giorda R et al: Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. J Med Genet 2006; 43: e19.","journal-title":"J Med Genet"},{"key":"BFejhg2012235_CR6","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1038\/ng.944","volume":"43","author":"CM Carvalho","year":"2011","unstructured":"Carvalho CM, Ramocki MB, Pehlivan D et al: Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 2011; 43: 1074\u20131081.","journal-title":"Nat Genet"},{"key":"BFejhg2012235_CR7","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1002\/humu.20465","volume":"28","author":"R Giorda","year":"2007","unstructured":"Giorda R, Ciccone R, Gimelli G et al: Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mutat 2007; 28: 459\u2013468.","journal-title":"Hum Mutat"},{"key":"BFejhg2012235_CR8","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1016\/j.cell.2012.02.039","volume":"148","author":"D Malhotra","year":"2012","unstructured":"Malhotra D, Sebat J : CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 2012; 148: 1223\u20131241.","journal-title":"Cell"},{"key":"BFejhg2012235_CR9","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1038\/nature09884","volume":"471","author":"V Vacic","year":"2011","unstructured":"Vacic V, McCarthy S, Malhotra D et al: Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature 2011; 471: 499\u2013503.","journal-title":"Nature"},{"key":"BFejhg2012235_CR10","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1176\/appi.ajp.2010.10060876","volume":"168","author":"DF Levinson","year":"2011","unstructured":"Levinson DF, Duan J, Oh S et al: Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 2011; 168: 302\u2013316.","journal-title":"Am J Psychiatry"},{"key":"BFejhg2012235_CR11","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1136\/jmg.2005.038604","volume":"43","author":"MC Bonaglia","year":"2006","unstructured":"Bonaglia MC, Giorda R, Mani E et al: Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet 2006; 43: 822\u2013828.","journal-title":"J Med Genet"},{"key":"BFejhg2012235_CR12","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1111\/j.1399-0004.2009.01187.x","volume":"75","author":"O Zuffardi","year":"2009","unstructured":"Zuffardi O, Bonaglia M, Ciccone R et al: Inverted duplications deletions: underdiagnosed rearrangements?? Clin Genet 2009; 75: 505\u2013513.","journal-title":"Clin Genet"},{"key":"BFejhg2012235_CR13","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1086\/319506","volume":"68","author":"S Giglio","year":"2001","unstructured":"Giglio S, Broman KW, Matsumoto N et al: Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 2001; 68: 874\u2013883.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012235_CR14","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1038\/ng753","volume":"29","author":"LR Osborne","year":"2001","unstructured":"Osborne LR, Li M, Pober B et al: A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 2001; 29: 321\u2013325.","journal-title":"Nat Genet"},{"key":"BFejhg2012235_CR15","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1086\/341610","volume":"71","author":"S Giglio","year":"2002","unstructured":"Giglio S, Calvari V, Gregato G et al: Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002; 71: 276\u2013285.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012235_CR16","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1136\/jmg.2005.036350","volume":"43","author":"JB Ravnan","year":"2006","unstructured":"Ravnan JB, Tepperberg JH, Papenhausen P et al: Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006; 43: 478\u2013489.","journal-title":"J Med Genet"},{"key":"BFejhg2012235_CR17","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1038\/ng0393-247","volume":"3","author":"F Gurrieri","year":"1993","unstructured":"Gurrieri F, Trask BJ, van den Engh G et al: Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet 1993; 3: 247\u2013251.","journal-title":"Nat Genet"},{"key":"BFejhg2012235_CR18","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1038\/ng0995-93","volume":"11","author":"SA Lynch","year":"1995","unstructured":"Lynch SA, Bond PM, Copp AJ et al: A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 1995; 11: 93\u201395.","journal-title":"Nat Genet"},{"key":"BFejhg2012235_CR19","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1007\/BF00304563","volume":"62","author":"MA Novales","year":"1982","unstructured":"Novales MA, Fernandez-Novoa C, Hevia A et al: Partial trisomy for the long arm of chromosome 7. Case report and review. Hum Genet 1982; 62: 378\u2013381.","journal-title":"Hum Genet"},{"key":"BFejhg2012235_CR20","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1159\/000109634","volume":"119","author":"O Bartsch","year":"2007","unstructured":"Bartsch O, Vlckov\u00e1 Z, Erdogan F et al: Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. Cytogenet Genome Res 2007; 119: 158\u2013164.","journal-title":"Cytogenet Genome Res"},{"key":"BFejhg2012235_CR21","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1159\/000230009","volume":"125","author":"H Lehnen","year":"2009","unstructured":"Lehnen H, Maiwald R, Neyzen S et al: Severe phenotype in a girl with partial tetrasomy 7, karyotype 46,XX,trp(7)(q35q36). Cytogenet Genome Res 2009; 125: 248\u2013252.","journal-title":"Cytogenet Genome Res"},{"key":"BFejhg2012235_CR22","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/S0014-5793(99)01135-7","volume":"458","author":"EM Lutz","year":"1999","unstructured":"Lutz EM, Shen S, Mackay M et al: Structure of the human VIPR2 gene for vasoactive intestinal peptide receptor type 2. FEBS Lett 1999; 458: 197\u2013203.","journal-title":"FEBS Lett"},{"key":"BFejhg2012235_CR23","doi-asserted-by":"publisher","first-page":"e1002016","DOI":"10.1371\/journal.pgen.1002016","volume":"7","author":"BJ Brewer","year":"2011","unstructured":"Brewer BJ, Payen C, Raghuraman MK et al: Origin-dependent inverted-repeat amplification: a replication-based model for generating palindromic amplicons. PLoS Genet 2011; 7: e1002016.","journal-title":"PLoS Genet"},{"key":"BFejhg2012235_CR24","doi-asserted-by":"publisher","first-page":"2681","DOI":"10.1002\/ajmg.a.34248","volume":"155A","author":"R Giorda","year":"2011","unstructured":"Giorda R, Beri S, Bonaglia MC et al: Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. Am J Med Genet 2011; 155A: 2681\u20132687.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012235_CR25","doi-asserted-by":"publisher","first-page":"798","DOI":"10.1136\/jmg.31.10.798","volume":"31","author":"AA Schinzel","year":"1994","unstructured":"Schinzel AA, Brecevic L, Bernasconi F et al: Intrachromosomal triplication of 15q11\u2013q13. J Med Genet 1994; 31: 798\u2013803.","journal-title":"J Med Genet"},{"key":"BFejhg2012235_CR26","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9","volume":"82","author":"J Wang","year":"1999","unstructured":"Wang J, Reddy KS, Wang E et al: Intrachromosomal triplication of 2q11.2\u2013q21 in a severely malformed infant: case report and review of triplications and their possible mechanism. Am J Med Genet 1999; 82: 312\u2013317.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012235_CR27","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1136\/jmg.38.1.26","volume":"38","author":"P Ungaro","year":"2001","unstructured":"Ungaro P, Christian SL, Fantes JA et al: Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11\u2013q14. J Med Genet 2001; 38: 26\u201334.","journal-title":"J Med Genet"},{"key":"BFejhg2012235_CR28","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1007\/s00439-002-0678-6","volume":"110","author":"SE Roberts","year":"2002","unstructured":"Roberts SE, Dennis NR, Browne CE et al: Characterisation of interstitial duplications and triplications of chromosome 15q11\u2013q13. Hum Genet 2002; 110: 227\u2013234.","journal-title":"Hum Genet"},{"key":"BFejhg2012235_CR29","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/ajmg.a.10164","volume":"118A","author":"F Vialard","year":"2003","unstructured":"Vialard F, Mignon-Ravix C, Parain D et al: Mechanism of intrachromosomal triplications 15q11\u2013q13: a new clinical report. Am J Med Genet 2003; 118A: 229\u2013234.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012235_CR30","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1038\/ng.474","volume":"41","author":"SE McCarthy","year":"2009","unstructured":"McCarthy SE, Makarov V, Kirov G et al: Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009; 41: 1223\u20131227.","journal-title":"Nat Genet"},{"key":"BFejhg2012235_CR31","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1016\/S0092-8674(02)00736-5","volume":"109","author":"AJ Harmar","year":"2002","unstructured":"Harmar AJ, Marston HM, Shen S et al: The VPAC(2) receptor is essential for circadian function in the mouse suprachiasmatic nuclei. Cell 2002; 109: 497\u2013508.","journal-title":"Cell"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012235.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012235","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012235.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:06:49Z","timestamp":1684429609000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2012235"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,17]]},"references-count":31,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["BFejhg2012235"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2012.235","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,17]]}}}