{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:26:17Z","timestamp":1761733577225,"version":"build-2065373602"},"reference-count":19,"publisher":"Elsevier BV","issue":"11-12","license":[{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"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","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2014,11]]},"DOI":"10.1016\/j.ejmg.2014.09.003","type":"journal-article","created":{"date-parts":[[2014,10,3]],"date-time":"2014-10-03T21:12:49Z","timestamp":1412370769000},"page":"613-616","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["First steps in exploring prospective exome sequencing of consanguineous couples"],"prefix":"10.1016","volume":"57","author":[{"given":"Marieke","family":"Teeuw","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Quinten","family":"Waisfisz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra J.G.","family":"Zwijnenburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik A.","family":"Sistermans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan M.","family":"Weiss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidewij","family":"Henneman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leo P.","family":"ten Kate","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina C.","family":"Cornel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanne","family":"Meijers-Heijboer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2014.09.003_bib1","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1111\/cge.12131","article-title":"Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience","volume":"84","author":"Alkuraya","year":"2013","journal-title":"Clin Genet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib2","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nrg3031","article-title":"Exome sequencing as a tool for Mendelian disease gene discovery","volume":"12","author":"Bamshad","year":"2011","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib3","doi-asserted-by":"crossref","first-page":"65ra4","DOI":"10.1126\/scitranslmed.3001756","article-title":"Carrier testing for severe childhood recessive diseases by next-generation sequencing","volume":"3","author":"Bell","year":"2011","journal-title":"Sci Transl Med"},{"issue":"Suppl 1","key":"10.1016\/j.ejmg.2014.09.003_bib4","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1073\/pnas.0906079106","article-title":"Evolution in health and medicine Sackler colloquium: consanguinity, human evolution, and complex diseases","volume":"107","author":"Bittles","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ejmg.2014.09.003_bib5","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/nrg3459","article-title":"Next-generation sequencing: does the next generation still have a right to an open future?","volume":"14","author":"Bredenoord","year":"2013","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib6","doi-asserted-by":"crossref","first-page":"138ra78","DOI":"10.1126\/scitranslmed.3003544","article-title":"Exome sequencing can improve diagnosis and alter patient management","volume":"4","author":"Dixon-Salazar","year":"2012","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.ejmg.2014.09.003_bib7","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.ajhg.2012.08.005","article-title":"Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth","volume":"91","author":"Fromer","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib8","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1038\/ejhg.2011.258","article-title":"Disease gene identification strategies for exome sequencing","volume":"20","author":"Gilissen","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib9","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1097\/GIM.0b013e318217477f","article-title":"Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report","volume":"13","author":"Hamamy","year":"2011","journal-title":"Genet Med"},{"key":"10.1016\/j.ejmg.2014.09.003_bib10","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0140-6736(14)60019-2","article-title":"Analysis of the Born in Bradford birth cohort","volume":"383","author":"Makrythanasis","year":"2014","journal-title":"Lancet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib11","doi-asserted-by":"crossref","first-page":"480","DOI":"10.2471\/BLT.06.036673","article-title":"Global epidemiology of haemoglobin disorders and derived service indicators","volume":"86","author":"Modell","year":"2008","journal-title":"Bull World Health Organ"},{"key":"10.1016\/j.ejmg.2014.09.003_bib12","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.jmoldx.2010.11.012","article-title":"Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology","volume":"13","author":"Muralidharan","year":"2011","journal-title":"J\u00a0Mol Diagn"},{"key":"10.1016\/j.ejmg.2014.09.003_bib13","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1002\/humu.22370","article-title":"Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics","volume":"34","author":"Rigter","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ejmg.2014.09.003_bib14","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0140-6736(14)60020-9","article-title":"Analysis of the Born in Bradford birth cohort\u2013authors' reply","volume":"383","author":"Sheridan","year":"2014","journal-title":"Lancet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib15","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1186\/1471-2350-11-113","article-title":"Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study","volume":"11","author":"Teeuw","year":"2010","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib16","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/ejhg.2013.167","article-title":"Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in western society","volume":"22","author":"Teeuw","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib17","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1007\/BF00202413","article-title":"Consanguinity sans reproche","volume":"86","author":"Ten Kate","year":"1991","journal-title":"Hum Genet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib18","first-page":"37","article-title":"Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes","volume":"1","author":"Ten Kate","year":"2010","journal-title":"J\u00a0Community Genet"},{"key":"10.1016\/j.ejmg.2014.09.003_bib19","doi-asserted-by":"crossref","DOI":"10.1002\/ana.24167","article-title":"Mutations in RARS cause hypomyelination","author":"Wolf","year":"2014","journal-title":"Ann Neurol"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214001827?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214001827?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:24Z","timestamp":1761709284000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721214001827"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11]]},"references-count":19,"journal-issue":{"issue":"11-12","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["S1769721214001827"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.09.003","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2014,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"First steps in exploring prospective exome sequencing of consanguineous couples","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.09.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}