{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:28Z","timestamp":1786978288565,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,1,19]],"date-time":"2018-01-19T00:00:00Z","timestamp":1516320000000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:p>\n                    What's already known about this topic?\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>ROH mapping is a diagnostic tool in the investigation of genetic disease within consanguineous families; however, in isolated populations, no consanguinity is required as a result of long\u2010term ancestral isolation.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:p>\n                  <jats:p>\n                    What does this study add?\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Known founder mutations within isolated populations together with SNP array in the prenatal testing, and with corresponding ultrasound abnormalities assist in achieving an accurate prenatal diagnosis in a tight schedule.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:p>","DOI":"10.1002\/pd.5201","type":"journal-article","created":{"date-parts":[[2018,1,11]],"date-time":"2018-01-11T21:59:47Z","timestamp":1515707987000},"page":"135-139","source":"Crossref","is-referenced-by-count":8,"title":["Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies"],"prefix":"10.1002","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-3599","authenticated-orcid":false,"given":"Hagit","family":"Daum","sequence":"first","affiliation":[{"name":"Departments of Genetics and Metabolic Diseases Hadassah Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Israela","family":"Lerer","sequence":"additional","affiliation":[{"name":"Departments of Genetics and Metabolic Diseases Hadassah Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayala","family":"Frumkin","sequence":"additional","affiliation":[{"name":"Departments of Genetics and Metabolic Diseases Hadassah Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Rosenak","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit Hadassah Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nili","family":"Yanai","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit Hadassah Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shay","family":"Porat","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit Hadassah Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simcha","family":"Yagel","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit Hadassah Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vardiella","family":"Meiner","sequence":"additional","affiliation":[{"name":"Departments of Genetics and Metabolic Diseases Hadassah Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,19]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"RobsonSC ChittyLS MorrisSet al.Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient health professional and commissioner preferences for array comparative genomic hybridisation. Queen's Printer and Controller of HMSO 2017. This work was produced by Robson et al. under the terms of a commissioning contract issued by the Secretary of State for Health. This issue may be freely reproduced for the purposes of private research and study and extracts (or indeed the full report) may be included in professional journals provided that suitable acknowledgement is made and the reproduction is not associated with any form of advertising. Applications for commercial reproduction should be addressed to: NIHR Journals Library National Institute for Health Research Evaluation Trials and Studies Coordinating Centre Alpha House University of Southampton Science Park Southampton SO16 7NS UK.: Southampton UK 2017."},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2017.03.007"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.03.003"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2012.03279.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000245576.47154.63"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2129"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2367"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2127"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.08.007"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0013996"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065482"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.075853"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.119"},{"key":"e_1_2_7_15_1","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1002\/ajmg.a.36206","article-title":"Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness","volume":"164","author":"Grote L","year":"2014","journal-title":"Am J Med Genet A"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.136"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2238"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.12.013"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0204-7"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.94"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi493"},{"key":"e_1_2_7_22_1","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1159\/000438776","article-title":"The diagnostic utility of single long contiguous stretches of homozygosity in patients without parental consanguinity","volume":"6","author":"Pajusalu S","year":"2015","journal-title":"Molecular syndromology"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.153"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.5201","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.5201","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T17:16:43Z","timestamp":1695662203000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.5201"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/pd.5201"],"URL":"https:\/\/doi.org\/10.1002\/pd.5201","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1]]}}}