{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T08:21:39Z","timestamp":1761466899494,"version":"build-2065373602"},"reference-count":22,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","rbmojournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Reproductive BioMedicine Online"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1016\/j.rbmo.2019.08.005","type":"journal-article","created":{"date-parts":[[2019,8,22]],"date-time":"2019-08-22T11:55:30Z","timestamp":1566474930000},"page":"963-968","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series"],"prefix":"10.1016","volume":"39","author":[{"given":"Roos M.","family":"Smits","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manon S.","family":"Oud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisenka E.L.M.","family":"Vissers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorien","family":"Lugtenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Didi D.M.","family":"Braat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathrin","family":"Fleischer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liliana","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen W.M.","family":"D'Hauwers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.rbmo.2019.08.005_bib0001","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1097\/AOG.0000000000001952","article-title":"Carrier Screening for Genetic Conditions. Committee Opinion No. 691","volume":"129","year":"2017","journal-title":"Obstet. Gynecol."},{"issue":"13","key":"10.1016\/j.rbmo.2019.08.005_bib0002","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1001\/jama.1992.03480130110034","article-title":"Congenital Bilateral Absence of the Vas Deferens: A Primarily Genital Form of Cystic Fibrosis","volume":"267","author":"Anguiano","year":"1992","journal-title":"JAMA"},{"issue":"6","key":"10.1016\/j.rbmo.2019.08.005_bib0003","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1136\/archdischild-2013-304340","article-title":"What is next generation sequencing?","volume":"98","author":"Behjati","year":"2013","journal-title":"Archives of Disease in Childhood Education and Practice Edition"},{"issue":"7","key":"10.1016\/j.rbmo.2019.08.005_bib0004","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1515\/cclm-2017-0553","article-title":"Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology","volume":"56","author":"Bergougnoux","year":"2018","journal-title":"Clin. Chem. Lab. Med."},{"issue":"2","key":"10.1016\/j.rbmo.2019.08.005_bib0005","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J","article-title":"Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France","volume":"16","author":"Claustres","year":"2000","journal-title":"Human Mutation"},{"issue":"6","key":"10.1016\/j.rbmo.2019.08.005_bib0006","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1016\/S0015-0282(00)01625-3","article-title":"Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling","volume":"74","author":"Daudin","year":"2000","journal-title":"Fertil. Steril."},{"issue":"6","key":"10.1016\/j.rbmo.2019.08.005_bib0007","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/S1472-6483(10)60677-3","article-title":"Male infertility: role of genetic background","volume":"14","author":"Ferlin","year":"2007","journal-title":"Reproductive BioMedicine Online"},{"key":"10.1016\/j.rbmo.2019.08.005_bib0008","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1038\/nbt.2696","article-title":"Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing","volume":"31","author":"Frampton","year":"2013","journal-title":"Nature Biotechnology"},{"key":"10.1016\/j.rbmo.2019.08.005_bib0009","unstructured":"Genome Diagnostics Nijmegen. [Available from:https:\/\/www.genomediagnosticsnijmegen.nl\/index.php\/en\/."},{"issue":"6","key":"10.1016\/j.rbmo.2019.08.005_bib0010","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1038\/aja.2010.58","article-title":"Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols","volume":"12","author":"Giuliani","year":"2010","journal-title":"Asian Journal of Andrology"},{"key":"10.1016\/j.rbmo.2019.08.005_bib0011","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/gim.2013.47","article-title":"ACMG position statement on prenatal\/preconception expanded carrier screening","volume":"15","author":"Grody","year":"2013","journal-title":"Genetics In Medicine"},{"issue":"5","key":"10.1016\/j.rbmo.2019.08.005_bib0012","doi-asserted-by":"crossref","first-page":"374","DOI":"10.3109\/00365513.2015.1031689","article-title":"Clinical diagnostic Next-Generation sequencing: The case of CFTR carrier screening","volume":"75","author":"Loukas","year":"2015","journal-title":"Scandinavian Journal of Clinical and Laboratory Investigation"},{"issue":"5","key":"10.1016\/j.rbmo.2019.08.005_bib0013","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1016\/j.jmoldx.2017.06.002","article-title":"A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology","volume":"19","author":"Lucarelli","year":"2017","journal-title":"The Journal of Molecular Diagnostics"},{"issue":"6114","key":"10.1016\/j.rbmo.2019.08.005_bib0014","article-title":"Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders","volume":"338","author":"O'Roak","year":"2012","journal-title":"Science"},{"issue":"11","key":"10.1016\/j.rbmo.2019.08.005_bib0015","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.1002\/humu.23312","article-title":"Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia","volume":"38","author":"Oud","year":"2017","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.rbmo.2019.08.005_bib0016","article-title":"Comprehensive Genetic Testing for Female and Male Infertility Using Next Generation Sequencing","author":"Patel","year":"2018","journal-title":"bioRxiv"},{"issue":"7","key":"10.1016\/j.rbmo.2019.08.005_bib0017","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1002\/humu.22332","article-title":"Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics","volume":"34","author":"Sikkema-Raddatz","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.rbmo.2019.08.005_bib0018","unstructured":"The Clinical and Functional TRanslation of CFTR (CFTR2). [Available from:https:\/\/cftr2.org accessed 11th of March 2019."},{"issue":"7","key":"10.1016\/j.rbmo.2019.08.005_bib0019","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1016\/S2213-8587(16)30043-2","article-title":"Concepts in diagnosis and therapy for male reproductive impairment","volume":"5","author":"Tournaye","year":"2017","journal-title":"The Lancet Diabetes & Endocrinology"},{"issue":"7","key":"10.1016\/j.rbmo.2019.08.005_bib0020","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/S2213-8587(16)30040-7","article-title":"Novel concepts in the aetiology of male reproductive impairment","volume":"5","author":"Tournaye","year":"2017","journal-title":"The Lancet Diabetes & Endocrinology"},{"year":"2010","series-title":"WHO laboratory manual for the examination and processing of human semen","key":"10.1016\/j.rbmo.2019.08.005_bib0021"},{"key":"10.1016\/j.rbmo.2019.08.005_bib0022","unstructured":"World Health Organization. Genes and human disease [Available from:http:\/\/www.who.int\/genomics\/public\/geneticdiseases\/en\/index2.html#CF accessed 2nd of August 2018."}],"container-title":["Reproductive BioMedicine Online"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1472648319306996?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1472648319306996?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T08:16:21Z","timestamp":1761466581000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1472648319306996"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["S1472648319306996"],"URL":"https:\/\/doi.org\/10.1016\/j.rbmo.2019.08.005","relation":{},"ISSN":["1472-6483"],"issn-type":[{"type":"print","value":"1472-6483"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series","name":"articletitle","label":"Article Title"},{"value":"Reproductive BioMedicine Online","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.rbmo.2019.08.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}