{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T01:26:42Z","timestamp":1787794002731,"version":"build-2784847793"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T00:00:00Z","timestamp":1608595200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Agence Nationale de la Recherche [\u201cInvestissements d\u2019avenir\u201d program","award":["ANR-10-IAHU-01"],"award-info":[{"award-number":["ANR-10-IAHU-01"]}]},{"DOI":"10.13039\/100016913","name":"MSDAvenir","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100016913","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The Society for the Relief of Disabled Children"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,3]]},"DOI":"10.1093\/brain\/awaa432","type":"journal-article","created":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T16:43:51Z","timestamp":1605890631000},"page":"e19-e19","source":"Crossref","is-referenced-by-count":6,"title":["Reply: <i>MN1<\/i> gene loss-of-function mutation causes cleft palate in a pedigree"],"prefix":"10.1093","volume":"144","author":[{"given":"Nancy","family":"Vegas","sequence":"first","affiliation":[{"name":"Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) UMR 1163, Institut Imagine, Universit\u00e9 de Paris, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Low","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol and Weston NHS Trust, Bristol BS2 8EJ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher C Y","family":"Mak","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmine L F","family":"Fung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne V","family":"Hing","sequence":"additional","affiliation":[{"name":"Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"},{"name":"Seattle Craniofacial Center, Seattle Children's Hospital, Seattle, WA 98105, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian H Y","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Doherty","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"},{"name":"Center for Integrative Brain Research, Seattle Children\u2019s Research Institute, Seattle, WA 98101, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[{"name":"Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) UMR 1163, Institut Imagine, Universit\u00e9 de Paris, 75015 Paris, France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, Assistance Publique H\u00f4pitaux de Paris (AP-HP), 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9300-8399","authenticated-orcid":false,"given":"Christopher T","family":"Gordon","sequence":"additional","affiliation":[{"name":"Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) UMR 1163, Institut Imagine, Universit\u00e9 de Paris, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,12,22]]},"reference":[{"key":"2021030904133326700_awaa432-B1","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1002\/ajmg.a.36839","article-title":"Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene","volume":"167","author":"Beck","year":"2015","journal-title":"Am J Med Genet A"},{"key":"2021030904133326700_awaa432-B2","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/ejhg.2015.65","article-title":"Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate","volume":"24","author":"Breckpot","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"2021030904133326700_awaa432-B3","doi-asserted-by":"crossref","first-page":"3959","DOI":"10.1242\/dev.025304","article-title":"The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice","volume":"135","author":"Liu","year":"2008","journal-title":"Development"},{"key":"2021030904133326700_awaa432-B4","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1093\/brain\/awz379","article-title":"MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis","volume":"143","author":"Mak","year":"2020","journal-title":"Brain"},{"key":"2021030904133326700_awaa432-B5","doi-asserted-by":"crossref","first-page":"4229","DOI":"10.1128\/MCB.25.10.4229-4236.2005","article-title":"Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton","volume":"25","author":"Meester-Smoor","year":"2005","journal-title":"Mol Cell Biol"},{"key":"2021030904133326700_awaa432-B6","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.ajhg.2019.11.011","article-title":"Gain-of-function MN1 truncation variants cause a recognizable syndrome with craniofacial and brain abnormalities","volume":"106","author":"Miyake","year":"2020","journal-title":"Am J Hum Genet"},{"key":"2021030904133326700_awaa432-B24395677"},{"key":"2021030904133326700_awaa432-B7","doi-asserted-by":"crossref","first-page":"127","DOI":"10.3389\/fgene.2019.00127","article-title":"Opportunities and challenges for molecular understanding of ciliopathies-the 100,000 genomes project","volume":"10","author":"Wheway","year":"2019","journal-title":"Front Genet"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/144\/2\/e19\/36454491\/awaa432.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/144\/2\/e19\/36454491\/awaa432.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T04:13:53Z","timestamp":1615263233000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/144\/2\/e19\/6044085"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,22]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,12,22]]},"published-print":{"date-parts":[[2021,3,3]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awaa432","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,2,1]]},"published":{"date-parts":[[2020,12,22]]}}}