{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:48:43Z","timestamp":1791348523723,"version":"4.3.1"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2017,2,27]],"date-time":"2017-02-27T00:00:00Z","timestamp":1488153600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1038\/ng.3794","type":"journal-article","created":{"date-parts":[[2017,3,2]],"date-time":"2017-03-02T09:31:36Z","timestamp":1488447096000},"page":"511-514","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":102,"title":["Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance"],"prefix":"10.1038","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6049-6931","authenticated-orcid":false,"given":"Ashley P L","family":"Marsh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Heron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy J","family":"Edwards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2624-4869","authenticated-orcid":false,"given":"Ang\u00e9lique","family":"Quartier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Galea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Nava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Rastetter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Laure","family":"Moutard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicki","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Bitoun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0397-2019","authenticated-orcid":false,"given":"Jens","family":"Bunt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Faudet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Garel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greta","family":"Gillies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilan","family":"Gobius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Guegan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Solveig","family":"Heide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabien","family":"Lesne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vesna","family":"Lukic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone A","family":"Mandelstam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"McGillivray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alissandra","family":"McIlroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"M\u00e9neret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura R","family":"Morcom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Paolino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Pope","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Riant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail A","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Spencer-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myriam","family":"Srour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E M","family":"Stephenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rick","family":"Tankard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oriane","family":"Trouillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quentin","family":"Welniarz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Rouleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Atti\u00e9-Bitach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin B","family":"Delatycki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Amor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0408-7468","authenticated-orcid":false,"given":"Am\u00e9lie","family":"Piton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5132-0774","authenticated-orcid":false,"given":"Melanie","family":"Bahlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Billette de Villemeur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elliott H","family":"Sherr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J","family":"Leventer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda J","family":"Richards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2531-8413","authenticated-orcid":false,"given":"Paul J","family":"Lockhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7212-9554","authenticated-orcid":false,"given":"Christel","family":"Depienne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,2,27]]},"reference":[{"key":"BFng3794_CR1","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.conb.2007.01.008","volume":"17","author":"C Lindwall","year":"2007","unstructured":"Lindwall, C., Fothergill, T. & Richards, L.J. Curr. Opin. Neurobiol. 17, 3\u201314 (2007).","journal-title":"Curr. Opin. Neurobiol."},{"key":"BFng3794_CR2","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/j.conb.2010.07.008","volume":"21","author":"A Ch\u00e9dotal","year":"2011","unstructured":"Ch\u00e9dotal, A. Curr. Opin. Neurobiol. 21, 68\u201375 (2011).","journal-title":"Curr. Opin. Neurobiol."},{"key":"BFng3794_CR3","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1038\/nrn2107","volume":"8","author":"LK Paul","year":"2007","unstructured":"Paul, L.K. et al. Nat. Rev. Neurosci. 8, 287\u2013299 (2007).","journal-title":"Nat. Rev. Neurosci."},{"key":"BFng3794_CR4","doi-asserted-by":"publisher","first-page":"2495","DOI":"10.1002\/ajmg.a.32418","volume":"146A","author":"HC Glass","year":"2008","unstructured":"Glass, H.C., Shaw, G.M., Ma, C. & Sherr, E.H. Am. J. Med. Genet. A. 146A, 2495\u20132500 (2008).","journal-title":"Am. J. Med. Genet. A."},{"key":"BFng3794_CR5","doi-asserted-by":"publisher","first-page":"F360","DOI":"10.1136\/adc.2010.201483","volume":"96","author":"C Rouleau","year":"2011","unstructured":"Rouleau, C. et al. Arch. Dis. Child. Fetal Neonatal Ed. 96, F360\u2013F364 (2011).","journal-title":"Arch. Dis. Child. Fetal Neonatal Ed."},{"key":"BFng3794_CR6","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1093\/brain\/awt358","volume":"137","author":"TJ Edwards","year":"2014","unstructured":"Edwards, T.J., Sherr, E.H., Barkovich, A.J. & Richards, L.J. Brain 137, 1579\u20131613 (2014).","journal-title":"Brain"},{"key":"BFng3794_CR7","doi-asserted-by":"publisher","first-page":"337.e1","DOI":"10.1016\/j.ajog.2011.12.024","volume":"206","author":"A Sotiriadis","year":"2012","unstructured":"Sotiriadis, A. & Makrydimas, G. Am. J. Obstet. Gynecol. 206, 337.e1\u2013337.e5 (2012).","journal-title":"Am. J. Obstet. Gynecol."},{"key":"BFng3794_CR8","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1038\/386796a0","volume":"386","author":"A Fazeli","year":"1997","unstructured":"Fazeli, A. et al. Nature 386, 796\u2013804 (1997).","journal-title":"Nature"},{"key":"BFng3794_CR9","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1126\/science.1186463","volume":"328","author":"M Srour","year":"2010","unstructured":"Srour, M. et al. Science 328, 592 (2010).","journal-title":"Science"},{"key":"BFng3794_CR10","doi-asserted-by":"publisher","first-page":"1999","DOI":"10.1212\/WNL.0000000000000477","volume":"82","author":"A M\u00e9neret","year":"2014","unstructured":"M\u00e9neret, A. et al. Neurology 82, 1999\u20132002 (2014).","journal-title":"Neurology"},{"key":"BFng3794_CR11","doi-asserted-by":"publisher","first-page":"2514","DOI":"10.1093\/cercor\/bhs253","volume":"23","author":"BA Ardekani","year":"2013","unstructured":"Ardekani, B.A., Figarsky, K. & Sidtis, J.J. Cereb. Cortex 23, 2514\u20132520 (2013).","journal-title":"Cereb. Cortex"},{"key":"BFng3794_CR12","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1016\/S0006-8993(97)00614-8","volume":"767","author":"SD Moffat","year":"1997","unstructured":"Moffat, S.D., Hampson, E., Wickett, J.C., Vernon, P.A. & Lee, D.H. Brain Res. 767, 297\u2013304 (1997).","journal-title":"Brain Res."},{"key":"BFng3794_CR13","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.psyneuen.2009.09.009","volume":"35","author":"LR Chura","year":"2010","unstructured":"Chura, L.R. et al. Psychoneuroendocrinology 35, 122\u2013132 (2010).","journal-title":"Psychoneuroendocrinology"},{"key":"BFng3794_CR14","doi-asserted-by":"publisher","first-page":"1275","DOI":"10.1126\/science.1255149","volume":"344","author":"K Xu","year":"2014","unstructured":"Xu, K. et al. Science 344, 1275\u20131279 (2014).","journal-title":"Science"},{"key":"BFng3794_CR15","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1038\/nrn3586","volume":"14","author":"LC Greig","year":"2013","unstructured":"Greig, L.C., Woodworth, M.B., Galazo, M.J., Padmanabhan, H. & Macklis, J.D. Nat. Rev. Neurosci. 14, 755\u2013769 (2013).","journal-title":"Nat. Rev. Neurosci."},{"key":"BFng3794_CR16","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1016\/j.neuron.2014.07.010","volume":"83","author":"LI Finci","year":"2014","unstructured":"Finci, L.I. et al. Neuron 83, 839\u2013849 (2014).","journal-title":"Neuron"},{"key":"BFng3794_CR17","doi-asserted-by":"publisher","first-page":"1138","DOI":"10.1093\/cercor\/bhs395","volume":"24","author":"T Fothergill","year":"2014","unstructured":"Fothergill, T. et al. Cereb. Cortex 24, 1138\u20131151 (2014).","journal-title":"Cereb. Cortex"},{"key":"BFng3794_CR18","doi-asserted-by":"publisher","first-page":"3333","DOI":"10.1093\/brain\/awt258","volume":"136","author":"C Gallea","year":"2013","unstructured":"Gallea, C. et al. Brain 136, 3333\u20133346 (2013).","journal-title":"Brain"},{"key":"BFng3794_CR19","doi-asserted-by":"publisher","first-page":"1063","DOI":"10.1016\/j.neuroimage.2015.10.019","volume":"125","author":"JL Andersson","year":"2016","unstructured":"Andersson, J.L. & Sotiropoulos, S.N. Neuroimage 125, 1063\u20131078 (2016).","journal-title":"Neuroimage"},{"key":"BFng3794_CR20","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1016\/S1053-8119(03)00336-7","volume":"20","author":"JL Andersson","year":"2003","unstructured":"Andersson, J.L., Skare, S. & Ashburner, J. Neuroimage 20, 870\u2013888 (2003).","journal-title":"Neuroimage"},{"issue":"Suppl. 1","key":"BFng3794_CR21","doi-asserted-by":"publisher","first-page":"S208","DOI":"10.1016\/j.neuroimage.2004.07.051","volume":"23","author":"SM Smith","year":"2004","unstructured":"Smith, S.M. et al. Neuroimage 23 (Suppl. 1), S208\u2013S219 (2004).","journal-title":"Neuroimage"},{"key":"BFng3794_CR22","doi-asserted-by":"publisher","first-page":"1176","DOI":"10.1016\/j.neuroimage.2004.07.037","volume":"23","author":"JD Tournier","year":"2004","unstructured":"Tournier, J.D., Calamante, F., Gadian, D.G. & Connelly, A. Neuroimage 23, 1176\u20131185 (2004).","journal-title":"Neuroimage"},{"key":"BFng3794_CR23","doi-asserted-by":"publisher","first-page":"1459","DOI":"10.1016\/j.neuroimage.2007.02.016","volume":"35","author":"JD Tournier","year":"2007","unstructured":"Tournier, J.D., Calamante, F. & Connelly, A. Neuroimage 35, 1459\u20131472 (2007).","journal-title":"Neuroimage"},{"key":"BFng3794_CR24","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/ima.22005","volume":"22","author":"JD Tournier","year":"2012","unstructured":"Tournier, J.D., Calamante, F. & Connelly, A. Int. J. Imaging Syst. Technol. 22, 53\u201366 (2012).","journal-title":"Int. J. Imaging Syst. Technol."},{"key":"BFng3794_CR25","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","volume":"26","author":"H Li","year":"2010","unstructured":"Li, H. & Durbin, R. Bioinformatics 26, 589\u2013595 (2010).","journal-title":"Bioinformatics"},{"key":"BFng3794_CR26","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna, A. et al. Genome Res. 20, 1297\u20131303 (2010).","journal-title":"Genome Res."},{"key":"BFng3794_CR27","doi-asserted-by":"publisher","first-page":"R85","DOI":"10.1186\/gb-2011-12-9-r85","volume":"12","author":"KR Smith","year":"2011","unstructured":"Smith, K.R. et al. Genome Biol. 12, R85 (2011).","journal-title":"Genome Biol."},{"key":"BFng3794_CR28","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1212\/WNL.0b013e318207b1e0","volume":"76","author":"C Depienne","year":"2011","unstructured":"Depienne, C. et al. Neurology 76, 260\u2013264 (2011).","journal-title":"Neurology"},{"key":"BFng3794_CR29","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/1471-2199-15-9","volume":"15","author":"S Dupasquier","year":"2014","unstructured":"Dupasquier, S. et al. BMC Mol. Biol. 15, 9 (2014).","journal-title":"BMC Mol. Biol."},{"key":"BFng3794_CR30","doi-asserted-by":"publisher","first-page":"W569","DOI":"10.1093\/nar\/gkq369","volume":"38","author":"F Lauck","year":"2010","unstructured":"Lauck, F., Smith, C.A., Friedland, G.F., Humphris, E.L. & Kortemme, T. Nucleic Acids Res. 38, W569\u2013W575 (2010).","journal-title":"Nucleic Acids Res."},{"key":"BFng3794_CR31","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","volume":"25","author":"EF Pettersen","year":"2004","unstructured":"Pettersen, E.F. et al. J. Comput. Chem. 25, 1605\u20131612 (2004).","journal-title":"J. Comput. Chem."},{"key":"BFng3794_CR32","doi-asserted-by":"publisher","first-page":"W665","DOI":"10.1093\/nar\/gkh381","volume":"32","author":"TJ Dolinsky","year":"2004","unstructured":"Dolinsky, T.J., Nielsen, J.E., McCammon, J.A. & Baker, N.A. Nucleic Acids Res. 32, W665\u2013W667 (2004).","journal-title":"Nucleic Acids Res."},{"key":"BFng3794_CR33","doi-asserted-by":"publisher","first-page":"10037","DOI":"10.1073\/pnas.181342398","volume":"98","author":"NA Baker","year":"2001","unstructured":"Baker, N.A., Sept, D., Joseph, S., Holst, M.J. & McCammon, J.A. Proc. Natl. Acad. Sci. USA 98, 10037\u201310041 (2001).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng3794_CR34","doi-asserted-by":"publisher","first-page":"2778","DOI":"10.1021\/ci200227u","volume":"51","author":"RA Laskowski","year":"2011","unstructured":"Laskowski, R.A. & Swindells, M.B. J. Chem. Inf. Model. 51, 2778\u20132786 (2011).","journal-title":"J. Chem. Inf. Model."},{"key":"BFng3794_CR35","doi-asserted-by":"publisher","first-page":"W299","DOI":"10.1093\/nar\/gki370","volume":"33","author":"M Landau","year":"2005","unstructured":"Landau, M. et al. Nucleic Acids Res. 33, W299\u2013W302 (2005).","journal-title":"Nucleic Acids Res."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng.3794.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.3794","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.3794.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T21:20:05Z","timestamp":1684444805000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng.3794"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,27]]},"references-count":35,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["BFng3794"],"URL":"https:\/\/doi.org\/10.1038\/ng.3794","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,27]]},"assertion":[{"value":"10 June 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 January 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 February 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}