{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T02:29:38Z","timestamp":1778552978197,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,21]],"date-time":"2018-12-21T00:00:00Z","timestamp":1545350400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Cincinnati Children's Research Foundation"},{"name":"CCHMC Center for Pediatric Genomics"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genesis"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    A recent convergence of technological innovations has re\u2010energized the ability to apply genetics to research in human craniofacial development. Next\u2010generation exome and whole genome sequencing have significantly dropped in price, making it relatively trivial to sequence and analyze patients and families with congenital craniofacial anomalies. A concurrent revolution in genome editing with the use of the CRISPR\u2010Cas9 system enables the rapid generation of animal models, including mouse, which can precisely recapitulate human variants. Here, we summarize the choices currently available to the research community. We illustrate this approach with the study of a family with a novel craniofacial syndrome with dominant inheritance pattern. The genomic analysis suggested a causal variant in\n                    <jats:italic>AMOTL1<\/jats:italic>\n                    which we modeled in mice. We also made a novel deletion allele of\n                    <jats:italic>Amotl1<\/jats:italic>\n                    . Our results indicate that\n                    <jats:italic>Amotl1<\/jats:italic>\n                    is not required in the mouse for survival to weaning. Mice carrying the variant identified in the human sequencing studies, however, do not survive to weaning in normal ratios. The cause of death is not understood for these mice complicating our conclusions about the pathogenicity in the index patient. Thus, we highlight some of the powerful opportunities and confounding factors confronting current craniofacial genetic research.\n                  <\/jats:p>","DOI":"10.1002\/dvg.23259","type":"journal-article","created":{"date-parts":[[2018,10,30]],"date-time":"2018-10-30T02:40:04Z","timestamp":1540867204000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Using human sequencing to guide craniofacial research"],"prefix":"10.1002","volume":"57","author":[{"given":"Ryan P.","family":"Liegel","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin","family":"Finnerty","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Blizzard","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"DiStasio","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert B.","family":"Hufnagel","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Howard M.","family":"Saal","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"},{"name":"Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen L.","family":"Sund","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"},{"name":"Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia A.","family":"Prows","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"},{"name":"Division of Patient Services, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"},{"name":"Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4512-6806","authenticated-orcid":false,"given":"Rolf W.","family":"Stottmann","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"},{"name":"Division of Developmental Biology, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"},{"name":"Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine  Cincinnati Ohio 45229"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.432007"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(02)00928-9"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C110.212621"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2018.10"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx362"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb3312"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11690"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09534"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.185.4154.862"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2014.11"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-112414-054639"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw971"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt977"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr1257"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.347419"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1631-9"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0106718"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E11-04-0300"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2014.00016"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14582"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1597\/03-214.1"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2016.01.017"}],"container-title":["genesis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fdvg.23259","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dvg.23259","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/dvg.23259","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dvg.23259","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T04:32:25Z","timestamp":1694320345000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/dvg.23259"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,21]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1002\/dvg.23259"],"URL":"https:\/\/doi.org\/10.1002\/dvg.23259","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/356717","asserted-by":"object"}]},"ISSN":["1526-954X","1526-968X"],"issn-type":[{"value":"1526-954X","type":"print"},{"value":"1526-968X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,21]]},"assertion":[{"value":"2018-06-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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