{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T23:49:28Z","timestamp":1792108168141,"version":"4.4.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2008,11,23]],"date-time":"2008-11-23T00:00:00Z","timestamp":1227398400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2008,12]]},"DOI":"10.1038\/ng.279","type":"journal-article","created":{"date-parts":[[2008,11,23]],"date-time":"2008-11-23T13:48:43Z","timestamp":1227448123000},"page":"1466-1471","source":"Crossref","is-referenced-by-count":527,"title":["Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities"],"prefix":"10.1038","volume":"40","author":[{"given":"Nicola","family":"Brunetti-Pierri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan S","family":"Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Belmont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A","family":"Bacino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trilochan","family":"Sahoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema R","family":"Lalani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brett","family":"Graham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Hae L","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"Pursley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Lotze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail","family":"Kennedy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Lansky-Shafer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Weaver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth R","family":"Roeder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa A","family":"Grebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgianne L","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry","family":"Hutchison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler","family":"Reimschisel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Amato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael T","family":"Geragthy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey W","family":"Innis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Obersztyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"Nowakowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally S","family":"Rosengren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia I","family":"Bader","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothy K","family":"Grange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayed","family":"Naqvi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adolfo D","family":"Garnica","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saunder M","family":"Bernes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin-To","family":"Fong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Summers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W David","family":"Walters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawel","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankita","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,11,23]]},"reference":[{"key":"BFng279_CR1","doi-asserted-by":"publisher","first-page":"1429","DOI":"10.1161\/01.RES.0000130528.72330.5c","volume":"94","author":"J Christiansen","year":"2004","unstructured":"Christiansen, J. et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ. Res. 94, 1429\u20131435 (2004).","journal-title":"Circ. Res."},{"key":"BFng279_CR2","doi-asserted-by":"publisher","first-page":"1038","DOI":"10.1038\/ng1862","volume":"38","author":"AJ Sharp","year":"2006","unstructured":"Sharp, A.J. et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet. 38, 1038\u20131042 (2006).","journal-title":"Nat. Genet."},{"key":"BFng279_CR3","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.jpeds.2006.02.006","volume":"149","author":"LG Shaffer","year":"2006","unstructured":"Shaffer, L.G. et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J. Pediatr. 149, 98\u2013102 (2006).","journal-title":"J. Pediatr."},{"key":"BFng279_CR4","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1038\/nature07229","volume":"455","author":"H Stefansson","year":"2008","unstructured":"Stefansson, H. et al. Large recurrent microdeletions associated with schizophrenia. Nature 455, 232\u2013236 (2008).","journal-title":"Nature"},{"key":"BFng279_CR5","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1038\/nature07239","volume":"455","author":"JL Stone","year":"2008","unstructured":"Stone, J.L. et al. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455, 237\u2013241 (2008).","journal-title":"Nature"},{"key":"BFng279_CR6","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1093\/hmg\/ddg122","volume":"12","author":"BE Davy","year":"2003","unstructured":"Davy, B.E. & Robinson, M.L. Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. Hum. Mol. Genet. 12, 1163\u20131170 (2003).","journal-title":"Hum. Mol. Genet."},{"key":"BFng279_CR7","doi-asserted-by":"publisher","first-page":"762","DOI":"10.1016\/j.ygeno.2006.07.012","volume":"88","author":"NA Doggett","year":"2006","unstructured":"Doggett, N.A. et al. A 360-kb interchromosomal duplication of the human HYDIN locus. Genomics 88, 762\u2013771 (2006).","journal-title":"Genomics"},{"key":"BFng279_CR8","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1086\/510919","volume":"80","author":"E Klopocki","year":"2007","unstructured":"Klopocki, E. et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am. J. Hum. Genet. 80, 232\u2013240 (2007).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng279_CR9","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1083\/jcb.200710162","volume":"180","author":"KF Lechtreck","year":"2008","unstructured":"Lechtreck, K.F., Delmotte, P., Robinson, M.L., Sanderson, M.J. & Witman, G.B. Mutations in Hydin impair ciliary motility in mice. J. Cell Biol. 180, 633\u2013643 (2008).","journal-title":"J. Cell Biol."},{"key":"BFng279_CR10","doi-asserted-by":"publisher","first-page":"1170","DOI":"10.1086\/379085","volume":"73","author":"J Bond","year":"2003","unstructured":"Bond, J. et al. Protein-truncating mutations in ASPM cause variable reduction in brain size. Am. J. Hum. Genet. 73, 1170\u20131177 (2003).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng279_CR11","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1093\/bioinformatics\/btl022","volume":"22","author":"CP Ponting","year":"2006","unstructured":"Ponting, C.P. A novel domain suggests a ciliary function for ASPM, a brain size determining gene. Bioinformatics 22, 1031\u20131035 (2006).","journal-title":"Bioinformatics"},{"key":"BFng279_CR12","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1038\/ng995","volume":"32","author":"J Bond","year":"2002","unstructured":"Bond, J. et al. ASPM is a major determinant of cerebral cortical size. Nat. Genet. 32, 316\u2013320 (2002).","journal-title":"Nat. Genet."},{"key":"BFng279_CR13","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1136\/jmg.30.10.828","volume":"30","author":"DF Callen","year":"1993","unstructured":"Callen, D.F. et al. High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. J. Med. Genet. 30, 828\u2013832 (1993).","journal-title":"J. Med. Genet."},{"key":"BFng279_CR14","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1002\/ajmg.1320430311","volume":"43","author":"M Fujiwara","year":"1992","unstructured":"Fujiwara, M., Yoshimoto, T., Morita, Y. & Kamada, M. Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome. Am. J. Med. Genet. 43, 561\u2013564 (1992).","journal-title":"Am. J. Med. Genet."},{"key":"BFng279_CR15","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1159\/000132745","volume":"50","author":"E Natt","year":"1989","unstructured":"Natt, E., Magenis, R.E., Zimmer, J., Mansouri, A. & Scherer, G. Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16. Cytogenet. Cell Genet. 50, 145\u2013148 (1989).","journal-title":"Cytogenet. Cell Genet."},{"key":"BFng279_CR16","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1192\/bjp.162.4.517","volume":"162","author":"TF McNeil","year":"1993","unstructured":"McNeil, T.F., Cantor-Graae, E., Nordstrom, L.G. & Rosenlund, T. Head circumference in 'preschizophrenic' and control neonates. Br. J. Psychiatry 162, 517\u2013523 (1993).","journal-title":"Br. J. Psychiatry"},{"key":"BFng279_CR17","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/S0920-9964(96)00076-X","volume":"22","author":"KE Ward","year":"1996","unstructured":"Ward, K.E., Friedman, L., Wise, A. & Schulz, S.C. Meta-analysis of brain and cranial size in schizophrenia. Schizophr. Res. 22, 197\u2013213 (1996).","journal-title":"Schizophr. Res."},{"key":"BFng279_CR18","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1111\/j.1600-0447.2004.00473.x","volume":"111","author":"BD Kelly","year":"2005","unstructured":"Kelly, B.D., Lane, A., Agartz, I., Henriksson, K.M. & McNeil, T.F. Craniofacial dysmorphology in Swedish schizophrenia patients. Acta Psychiatr. Scand. 111, 202\u2013207 (2005).","journal-title":"Acta Psychiatr. Scand."},{"key":"BFng279_CR19","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1038\/nature05329","volume":"444","author":"R Redon","year":"2006","unstructured":"Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444\u2013454 (2006).","journal-title":"Nature"},{"key":"BFng279_CR20","doi-asserted-by":"publisher","first-page":"1685","DOI":"10.1056\/NEJMoa0805384","volume":"359","author":"HC Mefford","year":"2008","unstructured":"Mefford, H.C. et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N. Engl. J. Med. 359, 1685\u20131699 (2008).","journal-title":"N. Engl. J. Med."},{"key":"BFng279_CR21","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1016\/0140-6736(92)92107-Q","volume":"340","author":"DI Wilson","year":"1992","unstructured":"Wilson, D.I., Goodship, J.A., Burn, J., Cross, I.E. & Scambler, P.J. Deletions within chromosome 22q11 in familial congenital heart disease. Lancet 340, 573\u2013575 (1992).","journal-title":"Lancet"},{"key":"BFng279_CR22","doi-asserted-by":"crossref","unstructured":"Hannes, F.D. et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR\/MCA while the duplication may be a rare benign variant. J. Med. Genet. advance online publication, doi:10.1136\/jmg.2007.055202 (11 June 2008).","DOI":"10.1136\/jmg.2007.055202"},{"key":"BFng279_CR23","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1038\/ng.93","volume":"40","author":"AJ Sharp","year":"2008","unstructured":"Sharp, A.J. et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet. 40, 322\u2013328 (2008).","journal-title":"Nat. Genet."},{"key":"BFng279_CR24","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1097\/01.GIM.0000170992.63691.32","volume":"7","author":"SW Cheung","year":"2005","unstructured":"Cheung, S.W. et al. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet. Med. 7, 422\u2013432 (2005).","journal-title":"Genet. Med."},{"key":"BFng279_CR25","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1002\/ajmg.a.20185","volume":"121A","author":"A Zankl","year":"2003","unstructured":"Zankl, A. & Molinari, L. ABase\u2014a tool for the rapid assessment of anthropometric measurements on handheld computers. Am. J. Med. Genet. A. 121A, 146\u2013150 (2003).","journal-title":"Am. J. Med. Genet. A."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng.279.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.279","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.279.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:56:17Z","timestamp":1684428977000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng.279"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,23]]},"references-count":25,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["BFng279"],"URL":"https:\/\/doi.org\/10.1038\/ng.279","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1136890.593987","asserted-by":"object"}]},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,23]]}}}