{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T18:22:26Z","timestamp":1771006946776,"version":"3.50.1"},"reference-count":14,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,1,6]],"date-time":"2024-01-06T00:00:00Z","timestamp":1704499200000},"content-version":"vor","delay-in-days":189,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100000243","name":"W. Garfield Weston Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2023,7]]},"DOI":"10.1016\/j.ajhg.2023.05.008","type":"journal-article","created":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T10:56:07Z","timestamp":1688640967000},"page":"1216-1218","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Approaches to studying the impact of 22q11.2 copy number variants"],"prefix":"10.1016","volume":"110","author":[{"given":"Anne S.","family":"Bassett","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna M.","family":"McDonald-McGinn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Boot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00f3lveig","family":"\u00d3skarsd\u00f3ttir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan K.C.","family":"Yuen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2023.05.008_bib1","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.ajhg.2023.01.005","article-title":"The impact of 22q11.2 copy-number variants on human traits in the general population","volume":"110","author":"Zamariolli","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2023.05.008_bib2","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1126\/science.1098918","article-title":"Large-scale copy number polymorphism in the human genome","volume":"305","author":"Sebat","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2023.05.008_bib3","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/nature05329","article-title":"Global variation in copy number in the human genome","volume":"444","author":"Redon","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.05.008_bib4","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1136\/jmedgenet-2018-105477","article-title":"Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank","volume":"56","author":"Crawford","year":"2019","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2023.05.008_bib5","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1186\/s12864-018-5292-7","article-title":"Effects of pathogenic CNVs on physical traits in participants of the UK Biobank","volume":"19","author":"Owen","year":"2018","journal-title":"BMC Genom."},{"key":"10.1016\/j.ajhg.2023.05.008_bib6","doi-asserted-by":"crossref","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 deletion syndrome","volume":"1","author":"McDonald-McGinn","year":"2015","journal-title":"Nat. Rev. Dis. Primers"},{"key":"10.1016\/j.ajhg.2023.05.008_bib7","doi-asserted-by":"crossref","first-page":"E802","DOI":"10.9778\/cmajo.20200294","article-title":"Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening","volume":"9","author":"Blagojevic","year":"2021","journal-title":"CMAJ Open"},{"key":"10.1016\/j.ajhg.2023.05.008_bib8","doi-asserted-by":"crossref","first-page":"2172","DOI":"10.1002\/ajmg.a.40359","article-title":"Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects","volume":"176","author":"Zhao","year":"2018","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2023.05.008_bib9","doi-asserted-by":"crossref","first-page":"2038","DOI":"10.3390\/genes13112038","article-title":"Adult height, 22q11.2 deletion extent, and short stature in 22q11.2 deletion syndrome","volume":"13","author":"Heung","year":"2022","journal-title":"Genes"},{"key":"10.1016\/j.ajhg.2023.05.008_bib10","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/s41436-019-0645-4","article-title":"Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition","volume":"22","author":"Unolt","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2023.05.008_bib11","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/s41586-020-2287-8","article-title":"A structural variation reference for medical and population genetics","volume":"581","author":"Collins","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.05.008_bib12","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1038\/s41586-022-04965-x","article-title":"The sequences of 150,119 genomes in the UK Biobank","volume":"607","author":"Halldorsson","year":"2022","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.05.008_bib13","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1001\/jamapsychiatry.2021.4080","article-title":"Clinical characterization of copy number variants associated with neurodevelopmental disorders in a large-scale multiancestry biobank","volume":"79","author":"Birnbaum","year":"2022","journal-title":"JAMA Psychiatr."},{"key":"10.1016\/j.ajhg.2023.05.008_bib14","doi-asserted-by":"crossref","first-page":"4496","DOI":"10.1038\/s41380-020-0654-3","article-title":"Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion","volume":"26","author":"Cleynen","year":"2021","journal-title":"Mol. Psychiatry"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929723001659?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929723001659?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:25:47Z","timestamp":1757575547000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929723001659"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["S0002929723001659"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.05.008","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Approaches to studying the impact of 22q11.2 copy number variants","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.2023.05.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.05.017","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.01.005","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}