{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T12:54:14Z","timestamp":1768827254395,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,3,16]],"date-time":"2015-03-16T00:00:00Z","timestamp":1426464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R03 DE021437 DE016148"],"award-info":[{"award-number":["R03 DE021437 DE016148"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["HG005015"],"award-info":[{"award-number":["HG005015"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>DNA copy number variants play an important part in the development of common birth defects such as oral clefts. Individual patients with multiple birth defects (including oral clefts) have been shown to carry small and large chromosomal deletions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We investigated the role of polymorphic copy number deletions by comparing transmission rates of deletions from parents to offspring in case\u2010parent trios of European ancestry ascertained through a cleft proband with trios ascertained through a normal offspring. DNA copy numbers in trios were called using the joint hidden Markov model in the freely available <jats:italic>PennCNV<\/jats:italic> software. All statistical analyses were performed using Bioconductor tools in the open source environment R.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a 67 kb region in the gene <jats:italic>MGAM<\/jats:italic> on chromosome 7q34, and a 206 kb region overlapping genes <jats:italic>ADAM3A<\/jats:italic> and <jats:italic>ADAM5<\/jats:italic> on chromosome 8p11, where deletions are more frequently transmitted to cleft offspring than control offspring.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These genes or nearby regulatory elements may be involved in the etiology of oral clefts. Birth Defects Research (Part A) 103:276\u2013283, 2015. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23362","type":"journal-article","created":{"date-parts":[[2015,3,16]],"date-time":"2015-03-16T10:07:52Z","timestamp":1426500472000},"page":"276-283","source":"Crossref","is-referenced-by-count":12,"title":["A genome\u2010wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts"],"prefix":"10.1002","volume":"103","author":[{"given":"Samuel G.","family":"Younkin","sequence":"first","affiliation":[{"name":"Department of Biostatistics Johns Hopkins Bloomberg School of Public Health Baltimore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert B.","family":"Scharpf","sequence":"additional","affiliation":[{"name":"Department of Oncology Johns Hopkins School of Medicine Baltimore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Schwender","sequence":"additional","affiliation":[{"name":"Mathematical Institute Heinrich\u2010Heine\u2010University  D\u00fcsseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret M.","family":"Parker","sequence":"additional","affiliation":[{"name":"Department of Epidemiology Johns Hopkins Bloomberg School of Public Health Baltimore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan F.","family":"Scott","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genomic Medicine Johns Hopkins School of Medicine Baltimore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary L.","family":"Marazita","sequence":"additional","affiliation":[{"name":"School of Dental Medicine University of Pittsburgh Pittsburgh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terri 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