{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:45:30Z","timestamp":1791326730123,"version":"4.3.1"},"reference-count":33,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2015,2,1]],"date-time":"2015-02-01T00:00:00Z","timestamp":1422748800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T00:00:00Z","timestamp":1642550400000},"content-version":"vor","delay-in-days":2544,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2015,2]]},"DOI":"10.1038\/gim.2014.113","type":"journal-article","created":{"date-parts":[[2014,8,14]],"date-time":"2014-08-14T11:17:49Z","timestamp":1408015069000},"page":"108-116","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":50,"title":["Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy"],"prefix":"10.1016","volume":"17","author":[{"given":"Marie Pierre","family":"Audr\u00e9zet","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Munck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Scotet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireille","family":"Claustres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Roussey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Delmas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"F\u00e9rec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Desgeorges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/gim.2014.113_bb0010","author":"Cutting"},{"key":"10.1038\/gim.2014.113_bb0015","author":"United Kingdom Cystic Fibrosis Database Steering Committee"},{"key":"10.1038\/gim.2014.113_bb0020","author":"Accurso"},{"key":"10.1038\/gim.2014.113_bb0025","author":"Lai"},{"key":"10.1038\/gim.2014.113_bb0030","author":"Balfour-Lynn"},{"key":"10.1038\/gim.2014.113_bb0035","author":"Dijk"},{"key":"10.1038\/gim.2014.113_bb0040","author":"F\u00e9rec"},{"key":"10.1038\/gim.2014.113_bb0045","author":"Scotet"},{"key":"10.1038\/gim.2014.113_bb0050","author":"Audr\u00e9zet"},{"key":"10.1038\/gim.2014.113_bb0055","author":"Farriaux"},{"key":"10.1038\/gim.2014.113_bb0060","author":"Munck"},{"key":"10.1038\/gim.2014.113_bb0065","author":"Claustres"},{"key":"10.1038\/gim.2014.113_bb0070","author":"Diagnostic Working Group"},{"key":"10.1038\/gim.2014.113_bb0075","author":"ECFS CF Neonatal Screening Working Group"},{"key":"10.1038\/gim.2014.113_bb0080","author":"Cystic Fibrosis Foundation"},{"key":"10.1038\/gim.2014.113_bb0085","author":"Castellani"},{"key":"10.1038\/gim.2014.113_bb0090","author":"Audr\u00e9zet"},{"key":"10.1038\/gim.2014.113_bb0095","author":"Le Mar\u00e9chal"},{"key":"10.1038\/gim.2014.113_bb0100","author":"Audrezet"},{"key":"10.1038\/gim.2014.113_bb0105","author":"Audr\u00e9zet"},{"key":"10.1038\/gim.2014.113_bb0110","author":"Groupe de travail \u201cD\u00e9pistage n\u00e9onatal\u201d de la F\u00e9d\u00e9ration des centres de ressources et de comp\u00e9tences de la mucoviscidose"},{"key":"10.1038\/gim.2014.113_bb0115","author":"Dequeker"},{"key":"10.1038\/gim.2014.113_bb0120","author":"Ferec"},{"key":"10.1038\/gim.2014.113_bb0125","author":"Bareil"},{"key":"10.1038\/gim.2014.113_bb0130","author":"Kiesewetter"},{"key":"10.1038\/gim.2014.113_bb0135","author":"Massie"},{"key":"10.1038\/gim.2014.113_bb0140","series-title":"The Metabolic and Molecular Basis of Inherited Disease. 8th edn","first-page":"5121","article-title":"Cystic fibrosis.","author":"Welsh","year":"2001"},{"key":"10.1038\/gim.2014.113_bb0145","author":"California Cystic Fibrosis Newborn Screening Consortium"},{"key":"10.1038\/gim.2014.113_bb0150","author":"K\u0159enkov\u00e1"},{"key":"10.1038\/gim.2014.113_bb0155","author":"Massie"},{"key":"10.1038\/gim.2014.113_bb0160","author":"Collaborating Working Group on R117H"},{"key":"10.1038\/gim.2014.113_bb0165","author":"Thursfield"},{"key":"10.1038\/gim.2014.113_bb0170","author":"VX08-770-102 Study Group"}],"updated-by":[{"DOI":"10.1038\/gim.2014.137","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000}}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/gim2014113.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim2014113","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021028276?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021028276?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim2014113.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T12:37:40Z","timestamp":1691671060000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021028276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2]]},"references-count":33,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["S1098360021028276"],"URL":"https:\/\/doi.org\/10.1038\/gim.2014.113","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2015,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/gim.2014.113","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2015, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}