{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T06:26:23Z","timestamp":1772519183401,"version":"3.50.1"},"reference-count":28,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2021,12]]},"DOI":"10.1038\/s41436-021-01270-2","type":"journal-article","created":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T13:03:21Z","timestamp":1626699801000},"page":"2342-2351","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinical and genomic characterization of 8p cytogenomic disorders"],"prefix":"10.1016","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5685","authenticated-orcid":false,"given":"Volkan","family":"Okur","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Hamm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haluk","family":"Kavus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Mebane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brynn","family":"Levy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/s41436-021-01270-2_bb0010","article-title":"Mechanisms underlying structural variant formation in genomic disorders","volume":"17","author":"Carvalho","year":"2016"},{"key":"10.1038\/s41436-021-01270-2_bb0015","article-title":"Human structural variation: mechanisms of chromosome rearrangements","volume":"31","author":"Weckselblatt","year":"2015"},{"key":"10.1038\/s41436-021-01270-2_bb0020","article-title":"Duplication-deficiency of the short arm of chromosome 8 following artificial insemination","volume":"19","author":"Weleber","year":"1976"},{"key":"10.1038\/s41436-021-01270-2_bb0025","article-title":"Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements","volume":"68","author":"Giglio","year":"2001"},{"key":"10.1038\/s41436-021-01270-2_bb0030","article-title":"8p 11 Microduplication is associated with neonatal stridor","volume":"9","author":"Puvabanditsin","year":"2019"},{"key":"10.1038\/s41436-021-01270-2_bb0035","article-title":"8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients","volume":"161A","author":"Barber","year":"2013"},{"key":"10.1038\/s41436-021-01270-2_bb0040","article-title":"8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp","volume":"7","author":"Weber","year":"2014"},{"key":"10.1038\/s41436-021-01270-2_bb0045","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020"},{"key":"10.1038\/s41436-021-01270-2_bb0050","article-title":"Characterising and predicting haploinsufficiency in the human genome","volume":"6","author":"Huang","year":"2010"},{"key":"10.1038\/s41436-021-01270-2_bb0055","article-title":"Peditools electronic growth chart calculators: applications in clinical care research, and quality improvement","volume":"22","author":"Chou","year":"2020"},{"key":"10.1038\/s41436-021-01270-2_bb0060","article-title":"A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants","volume":"13","author":"Fenton","year":"2013"},{"key":"10.1038\/s41436-021-01270-2_bb0065","article-title":"Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1","volume":"21","author":"Wat","year":"2012"},{"key":"10.1038\/s41436-021-01270-2_bb0070","article-title":"Sox7 regulates lineage decisions in cardiovascular progenitor cells","volume":"28","author":"Doyle","year":"2019"},{"key":"10.1038\/s41436-021-01270-2_bb0075","article-title":"The influence of genetics in congenital diaphragmatic hernia","volume":"44","author":"Yu","year":"2020"},{"key":"10.1038\/s41436-021-01270-2_bb0080","article-title":"Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization","volume":"167A","author":"Garc\u00eda-Santiago","year":"2015"},{"key":"10.1038\/s41436-021-01270-2_bb0085","article-title":"Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome","volume":"41","author":"Fisch","year":"2011"},{"key":"10.1038\/s41436-021-01270-2_bb0090","article-title":"Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature","volume":"54","author":"Ballarati","year":"2011"},{"key":"10.1038\/s41436-021-01270-2_bb0095","article-title":"Mechanisms for recurrent and complex human genomic rearrangements","volume":"22","author":"Liu","year":"2012"},{"key":"10.1038\/s41436-021-01270-2_bb0100","article-title":"Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits","volume":"14","author":"Lupski","year":"1998"},{"key":"10.1038\/s41436-021-01270-2_bb0105","article-title":"Assessment of behaviors modeling aspects of schizophrenia in Csmd1 mutant mice","volume":"7","author":"Distler","year":"2012"},{"key":"10.1038\/s41436-021-01270-2_bb0110","article-title":"Neuropsychological deficits in mice depleted of the schizophrenia susceptibility gene CSMD1","volume":"8","author":"Steen","year":"2013"},{"key":"10.1038\/s41436-021-01270-2_bb0115","article-title":"CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues","volume":"176","author":"Kraus","year":"2006"},{"key":"10.1038\/s41436-021-01270-2_bb0120","article-title":"Complete disruption of autism-susceptibility genes by gene editing predominantly reduces functional connectivity of isogenic human neurons","volume":"11","author":"Deneault","year":"2018"},{"key":"10.1038\/s41436-021-01270-2_bb0125","article-title":"Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits","volume":"5","author":"Jiang-Xie","year":"2014"},{"key":"10.1038\/s41436-021-01270-2_bb0130","article-title":"The DLGAP family: neuronal expression, function and role in brain disorders","volume":"10","author":"Rasmussen","year":"2017"},{"key":"10.1038\/s41436-021-01270-2_bb0135","article-title":"A genetic association study of CSMD1 and CSMD2 with cognitive function","volume":"61","author":"Athanasiu","year":"2017"},{"key":"10.1038\/s41436-021-01270-2_bb0140","article-title":"Biological insights from 108 schizophrenia-associated genetic loci","volume":"511","author":"Schizophrenia Working Group of the Psychiatric Genomics Consortium.","year":"2014"},{"key":"10.1038\/s41436-021-01270-2_bb0145","article-title":"Developmental outcomes of children with congenital diaphragmatic hernia: a multicenter prospective study","volume":"48","author":"Wynn","year":"2013"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41436-021-01270-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41436-021-01270-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021054496?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021054496?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41436-021-01270-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:55:26Z","timestamp":1761098126000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021054496"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12]]},"references-count":28,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["S1098360021054496"],"URL":"https:\/\/doi.org\/10.1038\/s41436-021-01270-2","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2021,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and genomic characterization of 8p cytogenomic disorders","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/s41436-021-01270-2","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}