{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T13:15:46Z","timestamp":1775308546565,"version":"3.50.1"},"reference-count":44,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T00:00:00Z","timestamp":1362096000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,9,10]],"date-time":"2013-09-10T00:00:00Z","timestamp":1378771200000},"content-version":"vor","delay-in-days":193,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1016\/j.ajhg.2013.01.018","type":"journal-article","created":{"date-parts":[[2013,2,28]],"date-time":"2013-02-28T16:18:59Z","timestamp":1362068339000},"page":"439-447","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":55,"title":["Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes"],"prefix":"10.1016","volume":"92","author":[{"given":"Maria","family":"Delio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingwei","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna\u00a0M.","family":"McDonald-McGinn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean","family":"Herman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Kaminetzky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u00a0Marie","family":"Higgins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karlene","family":"Coleman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn","family":"Chow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Jarlbrzkowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carrie\u00a0E.","family":"Bearden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Bailey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anders","family":"Vangkilde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Line","family":"Olsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Olesen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flemming","family":"Skovby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas\u00a0M.","family":"Werge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludivine","family":"Templin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiffany","family":"Busa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Philip","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann","family":"Swillen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joris\u00a0R.","family":"Vermeesch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koen","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maude","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Dahoun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan","family":"Eliez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly","family":"Schoch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen\u00a0R.","family":"Hooper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vandana","family":"Shashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joy","family":"Samanich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Marion","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Therese","family":"van\u00a0Amelsvoort","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Boot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Klaassen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sasja\u00a0N.","family":"Duijff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Vorstman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy","family":"Yuen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Candice","family":"Silversides","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Chow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Bassett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amos","family":"Frisch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abraham","family":"Weizman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doron","family":"Gothelf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Niarchou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"van\u00a0den\u00a0Bree","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael\u00a0J.","family":"Owen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damian\u00a0Heine","family":"Su\u00f1er","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi\u00a0Rosell","family":"Andreo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Armando","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Vicari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria\u00a0Cristina","family":"Digilio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Auton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy\u00a0R.","family":"Kates","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert\u00a0J.","family":"Shprintzen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly\u00a0S.","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernice\u00a0E.","family":"Morrow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2013.01.018_bib1","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1002\/ajmg.1320570339","article-title":"Velo-cardio-facial syndrome: Frequency and extent of 22q11 deletions","volume":"57","author":"Lindsay","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib2","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1080\/02791072.1995.10471675","article-title":"Implementation of a family-centered treatment program for substance-abusing women and their children: Barriers and resolutions","volume":"27","author":"Metsch","year":"1995","journal-title":"J. Psychoactive Drugs"},{"key":"10.1016\/j.ajhg.2013.01.018_bib3","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1093\/hmg\/8.7.1157","article-title":"A common molecular basis for rearrangement disorders on chromosome 22q11","volume":"8","author":"Edelmann","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib4","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1093\/hmg\/9.4.489","article-title":"Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis","volume":"9","author":"Shaikh","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib5","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1136\/jmg.33.8.719","article-title":"Prevalence of 22q11 microdeletion","volume":"33","author":"T\u00e9zenas Du Montcel","year":"1996","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib6","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","article-title":"Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study","volume":"34","author":"Ryan","year":"1997","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib7","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1136\/adc.79.4.348","article-title":"A population study of chromosome 22q11 deletions in infancy","volume":"79","author":"Goodship","year":"1998","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ajhg.2013.01.018_bib8","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1542\/peds.112.1.101","article-title":"A population-based study of the\u00a022q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population","volume":"112","author":"Botto","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.ajhg.2013.01.018_bib9","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/adc.2003.026880","article-title":"Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden","volume":"89","author":"Oskarsd\u00f3ttir","year":"2004","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ajhg.2013.01.018_bib10","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1097\/01.mop.0000184465.73833.0b","article-title":"Velo-cardio-facial syndrome","volume":"17","author":"Shprintzen","year":"2005","journal-title":"Curr. Opin. Pediatr."},{"key":"10.1016\/j.ajhg.2013.01.018_bib11","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1086\/302343","article-title":"Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome","volume":"64","author":"Edelmann","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib12","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1086\/338458","article-title":"Human-specific duplication and mosaic transcripts: The recent paralogous structure of chromosome 22","volume":"70","author":"Bailey","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib13","first-page":"1391","article-title":"Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome","volume":"56","author":"Morrow","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib14","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1086\/515508","article-title":"Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients","volume":"61","author":"Carlson","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib15","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1002\/humu.21568","article-title":"Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial\/DiGeorge\/22q11.2 deletion syndrome patients","volume":"32","author":"Guo","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2013.01.018_bib16","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1258\/ebm.2011.011008","article-title":"Effect of moderate-to-severe chronic kidney disease on flow-mediated dilation and progenitor cells","volume":"236","author":"Kuczmarski","year":"2011","journal-title":"Exp. Biol. Med. (Maywood)"},{"key":"10.1016\/j.ajhg.2013.01.018_bib17","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1086\/302011","article-title":"Comprehensive human genetic maps: Individual and sex-specific variation in recombination","volume":"63","author":"Broman","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib18","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1086\/377137","article-title":"A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set","volume":"73","author":"Matise","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib19","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng917","article-title":"A high-resolution recombination map of the human genome","volume":"31","author":"Kong","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib20","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1038\/35057185","article-title":"Comparison of human genetic and sequence-based physical maps","volume":"409","author":"Yu","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.01.018_bib21","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1126\/science.1439770","article-title":"A comprehensive genetic linkage map of the human genome","volume":"258","year":"1992","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2013.01.018_bib22","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1038\/nature09525","article-title":"Fine-scale recombination rate differences between sexes, populations and individuals","volume":"467","author":"Kong","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.01.018_bib23","series-title":"Bioinformatics for Systems Biology","first-page":"485","article-title":"Equality of the Sexes? Parent-of-Origin Effects on Transcription and de novo Mutations","author":"Glaser","year":"2009"},{"key":"10.1016\/j.ajhg.2013.01.018_bib24","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1007\/s00439-006-0157-6","article-title":"Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man","volume":"119","author":"Thomas","year":"2006","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib25","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1136\/jmedgenet-2011-100147","article-title":"De novo copy number variants associated with intellectual disability have a paternal origin and age bias","volume":"48","author":"Hehir-Kwa","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib26","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/ejhg.2011.182","article-title":"De novo deletions and duplications detected by array CGH: A study of parental origin in relation to mechanisms of formation and size of imbalance","volume":"20","author":"Sibbons","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib27","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1007\/s004390050287","article-title":"Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients","volume":"98","author":"L\u00e1zaro","year":"1996","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib28","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1007\/s004390050746","article-title":"Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay","volume":"102","author":"Upadhyaya","year":"1998","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib29","first-page":"542","article-title":"A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome","volume":"56","author":"Gilbert-Dussardier","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib30","first-page":"958","article-title":"7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover","volume":"59","author":"Urb\u00e1n","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib31","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1006\/geno.1996.0237","article-title":"Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion","volume":"34","author":"Robinson","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.ajhg.2013.01.018_bib32","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1002\/ajmg.c.30258","article-title":"Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome","volume":"154C","author":"Hobart","year":"2010","journal-title":"Am. J. Med. Genet. C. Semin. Med. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib33","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1590\/S1807-59322011000600007","article-title":"Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers","volume":"66","author":"Dutra","year":"2011","journal-title":"Clinics (Sao Paulo)"},{"key":"10.1016\/j.ajhg.2013.01.018_bib34","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/ng753","article-title":"A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome","volume":"29","author":"Osborne","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib35","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1086\/376565","article-title":"Mutational mechanisms of Williams-Beuren syndrome deletions","volume":"73","author":"Bay\u00e9s","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib36","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/ng.2007.40","article-title":"Germline rates of de novo meiotic deletions and duplications causing several genomic disorders","volume":"40","author":"Turner","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib37","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/sj.ejhg.5200930","article-title":"No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge\/Velocardiofacial syndrome","volume":"11","author":"Gebhardt","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib38","doi-asserted-by":"crossref","first-page":"e1000648","DOI":"10.1371\/journal.pgen.1000648","article-title":"Genetic analysis of variation in human meiotic recombination","volume":"5","author":"Chowdhury","year":"2009","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib39","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/0092-8674(87)90158-9","article-title":"A genetic linkage map of the human genome","volume":"51","author":"Donis-Keller","year":"1987","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2013.01.018_bib40","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1038\/nrg3245","article-title":"Human aneuploidy: Mechanisms and new insights into an age-old problem","volume":"13","author":"Nagaoka","year":"2012","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib41","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1093\/hmg\/ddh041","article-title":"Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion","volume":"13","author":"Saitta","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib42","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1016\/j.ajhg.2011.09.009","article-title":"Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over","volume":"89","author":"Liu","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib43","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/ng.909","article-title":"A copy number variation morbidity map of developmental delay","volume":"43","author":"Cooper","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.01.018_bib44","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1056\/NEJMoa1200395","article-title":"Phenotypic heterogeneity of genomic disorders and rare copy-number variants","volume":"367","author":"Girirajan","year":"2012","journal-title":"N. Engl. J. Med."}],"updated-by":[{"DOI":"10.1016\/j.ajhg.2013.03.005","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2013,4,4]],"date-time":"2013-04-04T00:00:00Z","timestamp":1365033600000}}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713000724?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713000724?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,10]],"date-time":"2019-07-10T05:49:50Z","timestamp":1562737790000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929713000724"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3]]},"references-count":44,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["S0002929713000724"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.01.018","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.ajhg.2013.03.005","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2013,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.01.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}