{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T22:23:03Z","timestamp":1780957383283,"version":"3.54.1"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2011,1,19]],"date-time":"2011-01-19T00:00:00Z","timestamp":1295395200000},"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":[[2011,5]]},"DOI":"10.1038\/ejhg.2010.237","type":"journal-article","created":{"date-parts":[[2011,1,19]],"date-time":"2011-01-19T16:26:32Z","timestamp":1295454392000},"page":"547-554","source":"Crossref","is-referenced-by-count":17,"title":["Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes"],"prefix":"10.1038","volume":"19","author":[{"given":"Jill A","family":"Rosenfeld","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsey E","family":"Stephens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Coppinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blake C","family":"Ballif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joe J","family":"Hoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice N","family":"French","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie C","family":"Banks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy E","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Manchester","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Chun-Hui","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina","family":"Merrion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Mendoza-Londono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Dupuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Schultz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth","family":"Torchia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trilochan","family":"Sahoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassem","family":"Bejjani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David D","family":"Weaver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa G","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,1,19]]},"reference":[{"key":"BFejhg2010237_CR1","doi-asserted-by":"publisher","first-page":"R114","DOI":"10.1186\/gb-2007-8-6-r114","volume":"8","author":"AJ Makoff","year":"2007","unstructured":"Makoff AJ, Flomen RH : Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol 2007; 8: R114.","journal-title":"Genome Biol"},{"key":"BFejhg2010237_CR2","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1038\/ng.93","volume":"40","author":"AJ Sharp","year":"2008","unstructured":"Sharp AJ, Mefford HC, Li K et al: A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008; 40: 322\u2013328.","journal-title":"Nat Genet"},{"key":"BFejhg2010237_CR3","first-page":"40","volume":"57","author":"SL Christian","year":"1995","unstructured":"Christian SL, Robinson WP, Huang B et al: Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 1995; 57: 40\u201348.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2010237_CR4","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1086\/301777","volume":"62","author":"AE Wandstrat","year":"1998","unstructured":"Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S : Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J Hum Genet 1998; 62: 925\u2013936.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2010237_CR5","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1086\/422854","volume":"75","author":"NJ Wang","year":"2004","unstructured":"Wang NJ, Liu D, Parokonny AS, Schanen NC : High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum Genet 2004; 75: 267\u2013281.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2010237_CR6","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1002\/ajmg.a.31000","volume":"139A","author":"T Sahoo","year":"2005","unstructured":"Sahoo T, Shaw CA, Young AS et al: Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A 2005; 139A: 106\u2013113.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2010237_CR7","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1136\/jmg.2008.063412","volume":"46","author":"BW van Bon","year":"2009","unstructured":"van Bon BW, Mefford HC, Menten B et al: Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 2009; 46: 511\u2013523.","journal-title":"J Med Genet"},{"key":"BFejhg2010237_CR8","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1136\/jmg.2005.032268","volume":"43","author":"C Rosenberg","year":"2006","unstructured":"Rosenberg C, Knijnenburg J, Bakker E et al: Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet 2006; 43: 180\u2013186.","journal-title":"J Med Genet"},{"key":"BFejhg2010237_CR9","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1136\/jmg.2005.039453","volume":"43","author":"B Menten","year":"2006","unstructured":"Menten B, Maas N, Thienpont B et al: Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006; 43: 625\u2013633.","journal-title":"J Med Genet"},{"key":"BFejhg2010237_CR10","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1002\/ajmg.a.30621","volume":"134","author":"BA Bejjani","year":"2005","unstructured":"Bejjani BA, Saleki R, Ballif BC et al: Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A 2005; 134: 259\u2013267.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2010237_CR11","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/1755-8166-1-8","volume":"1","author":"BC Ballif","year":"2008","unstructured":"Ballif BC, Theisen A, Coppinger J et al: Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 2008; 1: 8.","journal-title":"Mol Cytogenet"},{"key":"BFejhg2010237_CR12","doi-asserted-by":"publisher","first-page":"1196","DOI":"10.1038\/ejhg.2010.102","volume":"18","author":"AL Duker","year":"2010","unstructured":"Duker AL, Ballif BC, Bawle EV et al: Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C\/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet 2010; 18: 1196\u20131201.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2010237_CR13","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1111\/j.1399-0004.2008.01094.x","volume":"74","author":"BC Ballif","year":"2008","unstructured":"Ballif BC, Theisen A, McDonald-McGinn DM et al: Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet 2008; 74: 469\u2013475.","journal-title":"Clin Genet"},{"key":"BFejhg2010237_CR14","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/1755-8166-2-17","volume":"2","author":"RN Traylor","year":"2009","unstructured":"Traylor RN, Fan Z, Hudson B et al: Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report. Mol Cytogenet 2009; 2: 17.","journal-title":"Mol Cytogenet"},{"key":"BFejhg2010237_CR15","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1086\/510919","volume":"80","author":"E Klopocki","year":"2007","unstructured":"Klopocki E, Schulze H, Strauss G et al: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 2007; 80: 232\u2013240.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2010237_CR16","doi-asserted-by":"publisher","first-page":"1685","DOI":"10.1056\/NEJMoa0805384","volume":"359","author":"HC Mefford","year":"2008","unstructured":"Mefford HC, Sharp AJ, Baker C et al: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359: 1685\u20131699.","journal-title":"N Engl J Med"},{"key":"BFejhg2010237_CR17","doi-asserted-by":"publisher","first-page":"1466","DOI":"10.1038\/ng.279","volume":"40","author":"N Brunetti-Pierri","year":"2008","unstructured":"Brunetti-Pierri N, Berg JS, Scaglia F et al: Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008; 40: 1466\u20131471.","journal-title":"Nat Genet"},{"key":"BFejhg2010237_CR18","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1136\/jmg.2008.064378","volume":"46","author":"S Ben-Shachar","year":"2009","unstructured":"Ben-Shachar S, Lanpher B, German JR et al: Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 2009; 46: 382\u2013388.","journal-title":"J Med Genet"},{"key":"BFejhg2010237_CR19","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1038\/ejhg.2008.228","volume":"17","author":"AT Pagnamenta","year":"2009","unstructured":"Pagnamenta AT, Wing K, Sadighi Akha E et al: A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet 2009; 17: 687\u2013692.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2010237_CR20","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1038\/ng.292","volume":"41","author":"I Helbig","year":"2009","unstructured":"Helbig I, Mefford HC, Sharp AJ et al: 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009; 41: 160\u2013162.","journal-title":"Nat Genet"},{"key":"BFejhg2010237_CR21","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1111\/j.1399-0004.2010.01374.x","volume":"78","author":"A Masurel-Paulet","year":"2010","unstructured":"Masurel-Paulet A, Andrieux J, Callier P et al: Delineation of 15q13.3 microdeletions. Clin Genet 2010; 78: 149\u2013161.","journal-title":"Clin Genet"},{"key":"BFejhg2010237_CR22","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.ejmg.2009.03.006","volume":"52","author":"EK Bijlsma","year":"2009","unstructured":"Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH et al: Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 2009; 52: 77\u201387.","journal-title":"Eur J Med Genet"},{"key":"BFejhg2010237_CR23","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":"BFejhg2010237_CR24","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1007\/s11689-009-9037-4","volume":"2","author":"JA Rosenfeld","year":"2010","unstructured":"Rosenfeld JA, Coppinger J, Bejjani BA et al: Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11 2 microdeletions and microduplications. J Neurodevelop Disord 2010; 2: 26\u201338.","journal-title":"J Neurodevelop Disord"},{"key":"BFejhg2010237_CR25","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/j.gde.2009.04.003","volume":"19","author":"HC Mefford","year":"2009","unstructured":"Mefford HC, Eichler EE : Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev 2009; 19: 196\u2013204.","journal-title":"Curr Opin Genet Dev"},{"key":"BFejhg2010237_CR26","doi-asserted-by":"publisher","first-page":"31459","DOI":"10.1074\/jbc.272.50.31459","volume":"272","author":"M Okamoto","year":"1997","unstructured":"Okamoto M, Sudhof TC : Mints, Munc18-interacting proteins in synaptic vesicle exocytosis. J Biol Chem 1997; 272: 31459\u201331464.","journal-title":"J Biol Chem"},{"key":"BFejhg2010237_CR27","doi-asserted-by":"publisher","first-page":"12469","DOI":"10.1074\/jbc.M809214200","volume":"284","author":"Y Zhang","year":"2009","unstructured":"Zhang Y, Wang YG, Zhang Q et al: Interaction of Mint2 with TrkA is involved in regulation of nerve growth factor-induced neurite outgrowth. J Biol Chem 2009; 284: 12469\u201312479.","journal-title":"J Biol Chem"},{"key":"BFejhg2010237_CR28","doi-asserted-by":"publisher","first-page":"5884","DOI":"10.1523\/JNEUROSCI.5756-08.2009","volume":"29","author":"Y Sano","year":"2009","unstructured":"Sano Y, Ornthanalai VG, Yamada K et al: X11-like protein deficiency is associated with impaired conflict resolution in mice. J Neurosci 2009; 29: 5884\u20135896.","journal-title":"J Neurosci"},{"key":"BFejhg2010237_CR29","doi-asserted-by":"publisher","first-page":"35763","DOI":"10.1074\/jbc.M801353200","volume":"283","author":"Y Saito","year":"2008","unstructured":"Saito Y, Sano Y, Vassar R et al: X11 proteins regulate the translocation of amyloid beta-protein precursor (APP) into detergent-resistant membrane and suppress the amyloidogenic cleavage of APP by beta-site-cleaving enzyme in brain. J Biol Chem 2008; 283: 35763\u201335771.","journal-title":"J Biol Chem"},{"key":"BFejhg2010237_CR30","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00418-008-0418-7","volume":"130","author":"K Ebnet","year":"2008","unstructured":"Ebnet K : Organization of multiprotein complexes at cell-cell junctions. Histochem Cell Biol 2008; 130: 1\u201320.","journal-title":"Histochem Cell Biol"},{"key":"BFejhg2010237_CR31","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1016\/j.modgep.2007.05.006","volume":"7","author":"TK Kiener","year":"2007","unstructured":"Kiener TK, Sleptsova-Friedrich I, Hunziker W : Identification, tissue distribution and developmental expression of tjp1\/zo-1, tjp2\/zo-2 and tjp3\/zo-3 in the zebrafish, Danio rerio. Gene Expr Patterns 2007; 7: 767\u2013776.","journal-title":"Gene Expr Patterns"},{"key":"BFejhg2010237_CR32","doi-asserted-by":"publisher","first-page":"2465","DOI":"10.1091\/mbc.e07-12-1215","volume":"19","author":"T Katsuno","year":"2008","unstructured":"Katsuno T, Umeda K, Matsui T et al: Deficiency of zonula occludens-1 causes embryonic lethal phenotype associated with defected yolk sac angiogenesis and apoptosis of embryonic cells. Mol Biol Cell 2008; 19: 2465\u20132475.","journal-title":"Mol Biol Cell"},{"key":"BFejhg2010237_CR33","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/1471-2156-2-22","volume":"2","author":"TK Chibuk","year":"2001","unstructured":"Chibuk TK, Bischof JM, Wevrick R : A necdin\/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues. BMC Genet 2001; 2: 22.","journal-title":"BMC Genet"},{"key":"BFejhg2010237_CR34","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1128\/MCB.00767-07","volume":"28","author":"EM Taylor","year":"2008","unstructured":"Taylor EM, Copsey AC, Hudson JJ, Vidot S, Lehmann AR : Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex. Mol Cell Biol 2008; 28: 1197\u20131206.","journal-title":"Mol Cell Biol"},{"key":"BFejhg2010237_CR35","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1006\/geno.2002.6694","volume":"79","author":"B Riley","year":"2002","unstructured":"Riley B, Williamson M, Collier D, Wilkie H, Makoff A : A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14. Genomics 2002; 79: 197\u2013209.","journal-title":"Genomics"},{"key":"BFejhg2010237_CR36","doi-asserted-by":"publisher","first-page":"1269","DOI":"10.1038\/ng.481","volume":"41","author":"M Shinawi","year":"2009","unstructured":"Shinawi M, Schaaf CP, Bhatt SS et al: A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet 2009; 41: 1269\u20131271.","journal-title":"Nat Genet"},{"key":"BFejhg2010237_CR37","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1159\/000230036","volume":"28","author":"A Feher","year":"2009","unstructured":"Feher A, Juhasz A, Rimanoczy A, Csibri E, Kalman J, Janka Z : Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia. Dement Geriatr Cogn Disord 2009; 28: 56\u201362.","journal-title":"Dement Geriatr Cogn Disord"},{"key":"BFejhg2010237_CR38","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.brainres.2009.07.041","volume":"1291","author":"ML Sinkus","year":"2009","unstructured":"Sinkus ML, Lee MJ, Gault J et al: A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia. Brain Res 2009; 1291: 1\u201311.","journal-title":"Brain Res"},{"key":"BFejhg2010237_CR39","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1002\/ajmg.b.30306","volume":"141B","author":"RH Flomen","year":"2006","unstructured":"Flomen RH, Collier DA, Osborne S et al: Association study of CHRFAM7A copy number and 2\u2009bp deletion polymorphisms with schizophrenia and bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 2006; 141B: 571\u2013575.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"BFejhg2010237_CR40","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.ajhg.2008.12.014","volume":"84","author":"A Itsara","year":"2009","unstructured":"Itsara A, Cooper GM, Baker C et al: Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009; 84: 148\u2013161.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2010237_CR41","doi-asserted-by":"publisher","first-page":"1682","DOI":"10.1101\/gr.083501.108","volume":"19","author":"TH Shaikh","year":"2009","unstructured":"Shaikh TH, Gai X, Perin JC et al: High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009; 19: 1682\u20131690.","journal-title":"Genome Res"},{"key":"BFejhg2010237_CR42","doi-asserted-by":"publisher","first-page":"1497","DOI":"10.1093\/hmg\/ddp043","volume":"18","author":"G Kirov","year":"2009","unstructured":"Kirov G, Grozeva D, Norton N et al: Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 2009; 18: 1497\u20131503.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2010237_CR43","doi-asserted-by":"publisher","first-page":"R168","DOI":"10.1093\/hmg\/ddm241","volume":"16","author":"D Pinto","year":"2007","unstructured":"Pinto D, Marshall C, Feuk L, Scherer SW : Copy-number variation in control population cohorts. Hum Mol Genet 2007; 16: Spec No. 2: R168\u2013R173.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2010237_CR44","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1038\/ejhg.2008.112","volume":"16","author":"RH Flomen","year":"2008","unstructured":"Flomen RH, Davies AF, Di Forti M et al: The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion. Eur J Hum Genet 2008; 16: 1364\u20131371.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2010237_CR45","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1038\/ejhg.2008.189","volume":"17","author":"A Makoff","year":"2009","unstructured":"Makoff A, Flomen R : Common inversion polymorphisms and rare microdeletions at 15q13.3. Eur J Hum Genet 2009; 17: 149\u2013150.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2010237_CR46","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1093\/hmg\/ddg101","volume":"12","author":"G Gimelli","year":"2003","unstructured":"Gimelli G, Pujana MA, Patricelli MG et al: Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2\/3) deletions. Hum Mol Genet 2003; 12: 849\u2013858.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2010237_CR47","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1136\/jmg.2008.059907","volume":"46","author":"DT Miller","year":"2009","unstructured":"Miller DT, Shen Y, Weiss LA et al: Microdeletion\/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 2009; 46: 242\u2013248.","journal-title":"J Med Genet"},{"key":"BFejhg2010237_CR48","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/j.ejmg.2010.03.010","volume":"53","author":"T Baroy","year":"2010","unstructured":"Baroy T, Misceo D, Braaten O et al: A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. Eur J Med Genet 2010; 53: 221\u2013224.","journal-title":"Eur J Med Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2010237.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2010237","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2010237.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:01:03Z","timestamp":1684429263000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2010237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1,19]]},"references-count":48,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["BFejhg2010237"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2010.237","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1,19]]}}}