{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:35Z","timestamp":1791327635976,"version":"4.3.1"},"reference-count":62,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Molecular Genetics"],"published-print":{"date-parts":[[2011,3,15]]},"DOI":"10.1093\/hmg\/ddq556","type":"journal-article","created":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T01:59:03Z","timestamp":1293847143000},"page":"1122-1131","source":"Crossref","is-referenced-by-count":55,"title":["NOTCH, a new signaling pathway implicated in holoprosencephaly"],"prefix":"10.1093","volume":"20","author":[{"given":"V.","family":"Dupe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Rochard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Mercier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Le Petillon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Gicquel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Bendavid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Bourrouillou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Kini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Thauvin-Robinet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. P.","family":"Bohan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2010,12,31]]},"reference":[{"issue":"1","key":"2_36497582","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1002\/ajmg.c.30236","volume":"154C","author":"Roessler","year":"2010","journal-title":"American journal of medical genetics. Part C, Seminars in medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1552-4868","issn-type":"print"},{"issue":"2","key":"3_17467199","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s00439-002-0862-8","volume":"112","author":"Aguilella","year":"2003","journal-title":"Human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"issue":"1","key":"4_36497589","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1002\/ajmg.c.30250","volume":"154C","author":"Bendavid","year":"2010","journal-title":"American journal of medical genetics. Part C, Seminars in medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1552-4868","issn-type":"print"},{"issue":"2","key":"5_6181396","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1038\/2484","volume":"20","author":"Brown","year":"1998","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"10","key":"6_10516442","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1038\/sj.ejhg.5200540","volume":"8","author":"Pasquier","year":"2000","journal-title":"European journal of human genetics : EJHG","ISSN":"https:\/\/id.crossref.org\/issn\/1018-4813","issn-type":"print"},{"issue":"2","key":"7_10852654","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1038\/9718","volume":"22","author":"Wallis","year":"1999","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"1-2","key":"8_21677942","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00439-005-0097-6","volume":"119","author":"Bendavid","year":"2006","journal-title":"Human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"issue":"6","key":"9_21056655","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1136\/jmg.2005.037176","volume":"43","year":"2006","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"1","key":"10_18239298","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1002\/humu.20056","volume":"24","author":"Dubourg","year":"2004","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"5","key":"11_17107791","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1007\/s00439-002-0709-3","volume":"110","author":"de la Cruz","year":"2002","journal-title":"Human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"issue":"23","key":"12_19683808","doi-asserted-by":"publisher","first-page":"13424","DOI":"10.1073\/pnas.2235734100","volume":"100","year":"2003","journal-title":"PNAS","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"issue":"4","key":"13_33870373","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1007\/s00439-009-0628-7","volume":"125","author":"Roessler","year":"2009","journal-title":"Human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"issue":"1-2","key":"14_35184947","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1016\/j.ymgme.2009.05.005","volume":"98","author":"Roessler","year":"2009","journal-title":"Molecular genetics and metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/1096-7192","issn-type":"print"},{"issue":"15","key":"15_37358596","doi-asserted-by":"publisher","first-page":"3030","DOI":"10.1093\/hmg\/ddq208","volume":"19","year":"2010","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"15","key":"16_22347128","doi-asserted-by":"publisher","first-page":"2937","DOI":"10.1242\/dev.02465","volume":"133","year":"2006","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"8","key":"17_34831069","doi-asserted-by":"publisher","first-page":"1175","DOI":"10.1002\/humu.21016","volume":"30","author":"Bendavid","year":"2009","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"5415","key":"18_10801783","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1126\/science.284.5415.770","volume":"284","author":"Artavanis-Tsakonas","year":"1999","journal-title":"Science","ISSN":"https:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"issue":"23","key":"19_32520428","doi-asserted-by":"publisher","first-page":"3849","DOI":"10.1242\/dev.024570","volume":"135","author":"Kawaguchi","year":"2008","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"5","key":"20_22078813","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1038\/nbt1203","volume":"24","author":"Aerts","year":"2006","journal-title":"Nature biotechnology","ISSN":"https:\/\/id.crossref.org\/issn\/1087-0156","issn-type":"print"},{"issue":"2","key":"21_22364049","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1086\/506371","volume":"79","author":"Merla","year":"2006","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"22_29031067","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/1745-6150-2-19","volume":"2","author":"Pintar","year":"2007","ISSN":"https:\/\/id.crossref.org\/issn\/1745-6150","issn-type":"print"},{"issue":"10","key":"23_22754863","doi-asserted-by":"publisher","first-page":"2845","DOI":"10.1002\/dvdy.20903","volume":"235","author":"Bothe","year":"2006","journal-title":"Developmental dynamics : an official publication of the American Association of Anatomists","ISSN":"https:\/\/id.crossref.org\/issn\/1058-8388","issn-type":"print"},{"issue":"7","key":"24_22440514","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1016\/j.modgep.2006.01.004","volume":"6","author":"Rodrigues","year":"2006","journal-title":"Brain research. Gene expression patterns","ISSN":"https:\/\/id.crossref.org\/issn\/1567-133X","issn-type":"print"},{"issue":"5-6","key":"25_17284383","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1007\/s00429-002-0264-7","volume":"205","author":"Karabagli","year":"2002","journal-title":"Anatomy and embryology","ISSN":"https:\/\/id.crossref.org\/issn\/0340-2061","issn-type":"print"},{"issue":"12","key":"26_10326520","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.1242\/dev.127.12.2549","volume":"127","author":"Shanmugalingam","year":"2000","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"5314","key":"27_16771107","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1126\/science.276.5314.955","volume":"276","author":"Mohammadi","year":"1997","journal-title":"Science","ISSN":"https:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"issue":"18","key":"28_17752952","doi-asserted-by":"publisher","first-page":"4337","DOI":"10.1242\/dev.00660","volume":"130","author":"Walshe","year":"2003","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"21","key":"29_17313797","doi-asserted-by":"publisher","first-page":"2743","DOI":"10.1101\/gad.1025302","volume":"16","author":"Chen","year":"2002","journal-title":"Genes &amp; Development","ISSN":"https:\/\/id.crossref.org\/issn\/0890-9369","issn-type":"print"},{"issue":"18","key":"30_6131356","doi-asserted-by":"crossref","first-page":"3553","DOI":"10.1242\/dev.125.18.3553","volume":"125","author":"Incardona","year":"1998","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"5","key":"31_17299324","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1086\/344412","volume":"71","author":"Ming","year":"2002","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"1","key":"32_21301679","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/ajmg.a.31020","volume":"140","author":"Bertini","year":"2006","journal-title":"American journal of medical genetics. Part A","ISSN":"https:\/\/id.crossref.org\/issn\/1552-4825","issn-type":"print"},{"issue":"18","key":"33_22540799","doi-asserted-by":"crossref","first-page":"1944","DOI":"10.1002\/ajmg.a.31435","volume":"140","author":"Striano","year":"2006","journal-title":"American journal of medical genetics. Part A","ISSN":"https:\/\/id.crossref.org\/issn\/1552-4825","issn-type":"print"},{"issue":"1","key":"34_36497603","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1002\/ajmg.c.30246","volume":"154C","author":"Mercier","year":"2010","journal-title":"American journal of medical genetics. Part C, Seminars in medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1552-4868","issn-type":"print"},{"issue":"5","key":"35_18781206","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1111\/j.1399-0004.2005.00424.x","volume":"67","author":"Eash","year":"2005","journal-title":"Clinical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"issue":"1","key":"36_18642041","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/ajmg.a.30110","volume":"129A","author":"Lazaro","year":"2004","journal-title":"American journal of medical genetics. Part A","ISSN":"https:\/\/id.crossref.org\/issn\/1552-4825","issn-type":"print"},{"issue":"10","key":"37_35289120","doi-asserted-by":"publisher","first-page":"E921","DOI":"10.1002\/humu.21090","volume":"30","author":"Roessler","year":"2009","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"10","key":"38_22687407","doi-asserted-by":"publisher","first-page":"1090","DOI":"10.1038\/sj.ejhg.5201674","volume":"14","author":"Rooms","year":"2006","journal-title":"European journal of human genetics : EJHG","ISSN":"https:\/\/id.crossref.org\/issn\/1018-4813","issn-type":"print"},{"key":"39_28383735","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1242\/dev.129.4.945","volume":"129","year":"2002","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"5804","key":"40_23053855","doi-asserted-by":"publisher","first-page":"1414","DOI":"10.1126\/science.1134042","volume":"314","author":"Ehebauer","year":"2006","journal-title":"Science","ISSN":"https:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"issue":"32","key":"41_31629816","doi-asserted-by":"publisher","first-page":"11212","DOI":"10.1073\/pnas.0800695105","volume":"105","year":"2008","journal-title":"PNAS","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"issue":"8","key":"42_18758736","doi-asserted-by":"publisher","first-page":"1751","DOI":"10.1242\/dev.01789","volume":"132","author":"Le Borgne","year":"2005","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"1","key":"43_17471446","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/S1534-5807(02)00409-4","volume":"4","author":"Itoh","year":"2003","journal-title":"Developmental cell","ISSN":"https:\/\/id.crossref.org\/issn\/1534-5807","issn-type":"print"},{"issue":"14","key":"45_35064181","doi-asserted-by":"publisher","first-page":"2457","DOI":"10.1242\/dev.032656","volume":"136","author":"Paek","year":"2009","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"9","key":"46_21897210","doi-asserted-by":"publisher","first-page":"1831","DOI":"10.1242\/dev.02324","volume":"133","author":"Storm","year":"2006","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"2","key":"47_38496452","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1159\/000302285","volume":"1","author":"Arauz","year":"2010","ISSN":"https:\/\/id.crossref.org\/issn\/1661-8777","issn-type":"print"},{"key":"48_38995612","first-page":"421","volume":"12","year":"2010","journal-title":"Human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"issue":"5","key":"49_34922822","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1007\/s10059-009-0068-1","volume":"27","author":"Kageyama","year":"2009","journal-title":"Molecules and cells","ISSN":"https:\/\/id.crossref.org\/issn\/0219-1032","issn-type":"print"},{"issue":"23","key":"50_19729591","doi-asserted-by":"publisher","first-page":"2877","DOI":"10.1101\/gad.357705","volume":"19","year":"2005","journal-title":"Genes &amp; Development","ISSN":"https:\/\/id.crossref.org\/issn\/0890-9369","issn-type":"print"},{"issue":"6626","key":"51_16753265","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1038\/386717a0","volume":"386","author":"Hrab\u00a0\u00a0 de Angelis","year":"1997","journal-title":"Nature; Physical Science (London)","ISSN":"https:\/\/id.crossref.org\/issn\/1476-4687","issn-type":"print"},{"issue":"1","key":"52_17451870","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1242\/dev.00176","volume":"130","author":"Przemeck","year":"2003","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"6","key":"53_35207879","doi-asserted-by":"publisher","first-page":"e6054","DOI":"10.1371\/journal.pone.0006054","volume":"4","author":"Rubio-Aliaga","year":"2009","ISSN":"https:\/\/id.crossref.org\/issn\/1932-6203","issn-type":"print"},{"issue":"5","key":"54_15914181","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1242\/dev.121.5.1533","volume":"121","author":"Conlon","year":"1995","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"15","key":"55_10945418","doi-asserted-by":"crossref","first-page":"3415","DOI":"10.1242\/dev.126.15.3415","volume":"126","author":"Hamada","year":"1999","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"6","key":"56_15624467","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1101\/gad.8.6.707","volume":"8","author":"Swiatek","year":"1994","journal-title":"Genes &amp; Development","ISSN":"https:\/\/id.crossref.org\/issn\/0890-9369","issn-type":"print"},{"issue":"43","key":"57_18492307","doi-asserted-by":"publisher","first-page":"9497","DOI":"10.1523\/JNEUROSCI.0993-04.2004","volume":"24","author":"Yoon","year":"2004","journal-title":"Journal of Neuroscience","ISSN":"https:\/\/id.crossref.org\/issn\/0270-6474","issn-type":"print"},{"issue":"35","key":"58_23509964","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399407000361","volume":"9","author":"Loo","year":"2007","journal-title":"Expert reviews in molecular medicine [electronic resource]","ISSN":"https:\/\/id.crossref.org\/issn\/1462-3994","issn-type":"print"},{"issue":"10","key":"59_18212203","doi-asserted-by":"publisher","first-page":"3108","DOI":"10.1093\/nar\/gkh605","volume":"32","author":"Lopez-Bigas","year":"2004","journal-title":"Nucleic Acids Research","ISSN":"https:\/\/id.crossref.org\/issn\/0305-1048","issn-type":"print"},{"issue":"4","key":"60_10256615","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1002\/aja.1001950404","volume":"195","author":"Hamburger","year":"1992","journal-title":"Developmental dynamics : an official publication of the American Association of Anatomists","ISSN":"https:\/\/id.crossref.org\/issn\/1058-8388","issn-type":"print"},{"issue":"12","key":"61_11269565","doi-asserted-by":"crossref","first-page":"2199","DOI":"10.1242\/dev.128.12.2199","volume":"128","author":"Dupe","year":"2001","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"1","key":"62_17019533","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1006\/dbio.2002.0641","volume":"245","author":"Chapman","year":"2002","journal-title":"Developmental biology","ISSN":"https:\/\/id.crossref.org\/issn\/0012-1606","issn-type":"print"},{"issue":"1","key":"63_11258142","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1007\/s004390100505","volume":"109","author":"den Dunnen","year":"2001","journal-title":"Human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"issue":"18","key":"64_18561272","doi-asserted-by":"publisher","first-page":"3302","DOI":"10.1093\/bioinformatics\/bth407","volume":"20","year":"2004","journal-title":"Bioinformatics","ISSN":"https:\/\/id.crossref.org\/issn\/1367-4803","issn-type":"print"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","deposited":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T19:22:22Z","timestamp":1637090542000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddq556"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12,31]]},"references-count":62,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2011,2,23]]},"published-print":{"date-parts":[[2011,3,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddq556","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,12,31]]}}}