{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T02:55:26Z","timestamp":1774407326564,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,5,17]],"date-time":"2022-05-17T00:00:00Z","timestamp":1652745600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,5,17]],"date-time":"2022-05-17T00:00:00Z","timestamp":1652745600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2022,9]]},"DOI":"10.1002\/humu.24384","type":"journal-article","created":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T14:23:12Z","timestamp":1650550992000},"page":"1239-1248","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["uORF\u2010introducing variants in the 5\u2032UTR of the\n            <i>NIPBL<\/i>\n            gene as a cause of Cornelia de Lange syndrome"],"prefix":"10.1155","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2668-5779","authenticated-orcid":false,"given":"Juliette","family":"Coursimault","sequence":"first","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4454-3659","authenticated-orcid":false,"given":"Anne","family":"Rovelet\u2010Lecrux","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2683-4073","authenticated-orcid":false,"given":"K\u00e9vin","family":"Cassinari","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4816-1431","authenticated-orcid":false,"given":"Elise","family":"Brischoux\u2010Boucher","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine, Universit\u00e9 de Franche\u2010Comt\u00e9, CHU Besan\u00e7on Besan\u00e7on France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8045-6432","authenticated-orcid":false,"given":"Pascale","family":"Saugier\u2010Veber","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5864-9182","authenticated-orcid":false,"given":"Alice","family":"Goldenberg","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9110-1856","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Lecoquierre","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Drouot","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Claire","family":"Richard","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Vera","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Coutant","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8273-8505","authenticated-orcid":false,"given":"Olivier","family":"Quenez","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Rolain","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9line","family":"Bonnet","sequence":"additional","affiliation":[{"name":"Department of Genetics Nancy University Hospital Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8934-5771","authenticated-orcid":false,"given":"Myriam","family":"Bronner","sequence":"additional","affiliation":[{"name":"Department of Genetics Nancy University Hospital Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4257-1974","authenticated-orcid":false,"given":"Magalie","family":"Lecourtois","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9391-7800","authenticated-orcid":false,"given":"Ga\u00ebl","family":"Nicolas","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4\u2010G\u00e9nomique Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,5,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003529"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20380"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12499"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059\u2010021\u201002423\u2010x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28090"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11316"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/511888"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.3030"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0154158"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102308\u20107"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576\u2010018\u20100031\u20100"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092\u20108674(86)90762\u20102"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1364"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/2020.03.28.007328"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz681"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth437"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11103\u2010009\u20109528\u20104"},{"key":"e_1_2_8_19_1","first-page":"226","article-title":"Neural network prediction of translation initiation sites in eukaryotes: Perspectives for EST and genome analysis","volume":"5","author":"Pedersen A. G.","year":"1997","journal-title":"Proceedings. International Conference on Intelligent Systems for Molecular Biology"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384101.2019.1658476"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010020\u20100672\u20102"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000490635"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/14.5.384"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2007.00832.x"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12071075"},{"key":"e_1_2_8_26_1","volume-title":"Advances in Experimental Medicine and Biology, \u00e9dit\u00e9 par L. Rom\u00e3o","author":"Silva J.","year":"2019"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010004\u20101134\u20106"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010019\u201010717\u20109"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.04.025"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23598"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24384","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24384","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24384","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:56:16Z","timestamp":1672332976000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24384"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,17]]},"references-count":29,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1002\/humu.24384"],"URL":"https:\/\/doi.org\/10.1002\/humu.24384","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,17]]},"assertion":[{"value":"2021-12-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}