{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:21:25Z","timestamp":1790814085431,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["Intramural Research Program"],"award-info":[{"award-number":["Intramural Research Program"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in <jats:italic>SIX3<\/jats:italic> whole gene deletions, which are known to cause HPE. Both chromosomal microarray and whole exome sequencing (WES) were used to evaluate families with inherited HPE. Two families showed inherited deletions that contain <jats:italic>SIX3<\/jats:italic> and were incompletely penetrant for HPE. Using WES, we ruled out parental mosaicism, a <jats:italic>SIX3<\/jats:italic> hypomorph, and clinically significant variants in genes that are known to interact with <jats:italic>SIX3<\/jats:italic> as causes of incomplete penetrance. We demonstrate the importance of molecular cascade testing in families with HPE and we answer important questions about incomplete penetrance.<\/jats:p>","DOI":"10.1111\/cga.12234","type":"journal-article","created":{"date-parts":[[2017,7,3]],"date-time":"2017-07-03T02:06:34Z","timestamp":1499047594000},"page":"29-32","source":"Crossref","is-referenced-by-count":17,"title":["<i>SIX3<\/i> deletions and incomplete penetrance in families affected by holoprosencephaly"],"prefix":"10.1111","volume":"58","author":[{"given":"Bethany","family":"Stokes","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth I.","family":"Berger","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth A.","family":"Hall","sequence":"additional","affiliation":[{"name":"Minnesota Perinatal Physicians Allina Health  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Weiss","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel F.","family":"Martinez","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald W.","family":"Hadley","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Murdock","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subhadra","family":"Ramanathan","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Loma Linda University Children's Hospital  Loma Linda California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin D.","family":"Clark","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Loma Linda University Children's Hospital  Loma Linda California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erich","family":"Roessler","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome 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