{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:49Z","timestamp":1787014009258,"version":"build-2736575974"},"reference-count":47,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,11]],"date-time":"2018-02-11T00:00:00Z","timestamp":1518307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007155","name":"Medical Research Council Canada","doi-asserted-by":"publisher","award":["K022741"],"award-info":[{"award-number":["K022741"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council Canada","doi-asserted-by":"publisher","award":["N003713"],"award-info":[{"award-number":["N003713"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>\n                    Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had more limited inclusion in genetic studies. A genetic influence is strongly implicated in determining risk of NTDs and a molecular diagnosis is of fundamental importance to families both in terms of understanding the origin of the condition and for managing future pregnancies. Here we used a custom panel of 191 NTD candidate genes to screen 90 patients with cranial NTDs (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200985 anencephaly and\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20095 craniorachischisis) with a targeted exome sequencing platform. After filtering and comparing to our in\u2010house control exome database (\n                    <jats:italic>N<\/jats:italic>\n                    \u2009=\u2009509), we identified 397 rare variants (minor allele frequency, MAF\u2009&lt;\u20091%), 21 of which were previously unreported and predicted damaging. This included 1 frameshift (\n                    <jats:italic>PDGFRA<\/jats:italic>\n                    ), 2 stop\u2010gained (\n                    <jats:italic>MAT1A<\/jats:italic>\n                    ;\n                    <jats:italic>NOS2<\/jats:italic>\n                    ) and 18 missense variations. Together with evidence for oligogenic inheritance, this study provides new information on the possible genetic causation of anencephaly.\n                  <\/jats:p>","DOI":"10.1111\/cge.13189","type":"journal-article","created":{"date-parts":[[2017,12,5]],"date-time":"2017-12-05T05:46:32Z","timestamp":1512452792000},"page":"870-879","source":"Crossref","is-referenced-by-count":37,"title":["A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4769-2273","authenticated-orcid":false,"given":"M.","family":"Ishida","sequence":"first","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Cullup","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital North East Thames Regional Genetics Service Laboratories  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Boustred","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital North East Thames Regional Genetics Service Laboratories  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"James","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Docker","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital North East Thames Regional Genetics Service Laboratories  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"English","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine Newcastle University  Newcastle upon 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.D.E.","family":"Greene","sequence":"additional","affiliation":[{"name":"Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Stanier","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health University College London  London 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