{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:01:14Z","timestamp":1761102074478},"reference-count":40,"publisher":"Hindawi Limited","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":817,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2013,9]]},"DOI":"10.1002\/humu.22355","type":"journal-article","created":{"date-parts":[[2013,5,14]],"date-time":"2013-05-14T21:12:40Z","timestamp":1368565960000},"page":"1298-1303","source":"Crossref","is-referenced-by-count":26,"title":["0.5\u00a0Mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice"],"prefix":"10.1155","volume":"34","author":[{"given":"Malgorzata I.","family":"Srebniak","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics; Erasmus MC; Rotterdam 3015GE The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisanne","family":"Mout","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; Erasmus MC; Rotterdam 3015GE The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane","family":"Van Opstal","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; Erasmus MC; Rotterdam 3015GE The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert-Jan H.","family":"Galjaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; Erasmus MC; Rotterdam 3015GE The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2013,6,6]]},"reference":[{"key":"10.1002\/humu.22355-BIB0001|humu22355-cit-0001","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1097\/GIM.0b013e318203cff2","article-title":"Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing","volume":"13","author":"Berg","year":"2011","journal-title":"Genet Med"},{"key":"10.1002\/humu.22355-BIB0002|humu22355-cit-0002","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1136\/jmedgenet-2011-100372","article-title":"Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping","volume":"48","author":"Bruno","year":"2011","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22355-BIB0003|humu22355-cit-0003","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/pd.2722","article-title":"Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era","volume":"31","author":"Bui","year":"2011","journal-title":"Prenat Diagn"},{"key":"10.1002\/humu.22355-BIB0004|humu22355-cit-0004","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1093\/hmg\/ddq003","article-title":"Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis","volume":"19","author":"Conlin","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22355-BIB0005|humu22355-cit-0005","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/ng.909","article-title":"A copy number variation morbidity map of developmental delay","volume":"43","author":"Cooper","year":"2011","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22355-BIB0006|humu22355-cit-0006","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1111\/j.1399-0004.2011.01687.x","article-title":"Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype","volume":"81","author":"D'Amours","year":"2012","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22355-BIB0007|humu22355-cit-0007","article-title":"Diagnostic interpretation of array data using public databases and internet sources","author":"Leeuw","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22355-BIB0008|humu22355-cit-0008","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1002\/pd.2948","article-title":"Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience","volume":"32","author":"Faas","year":"2012","journal-title":"Prenat Diagn"},{"key":"10.1002\/humu.22355-BIB0009|humu22355-cit-0009","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1136\/jmg.2009.075853","article-title":"Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis","volume":"47","author":"Faas","year":"2010","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22355-BIB0010|humu22355-cit-0010","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/pd.2129","article-title":"High-resolution array genomic hybridization in prenatal diagnosis","volume":"29","author":"Friedman","year":"2009","journal-title":"Prenat Diagn"},{"key":"10.1002\/humu.22355-BIB0011|humu22355-cit-0011","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1111\/j.1572-0241.2006.00375.x","article-title":"Familial adenomatous polyposis","volume":"101","author":"Galiatsatos","year":"2006","journal-title":"Am J Gastroenterol"},{"key":"10.1002\/humu.22355-BIB0012|humu22355-cit-0012","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1159\/000184692","article-title":"CNV and nervous system diseases-what's new","volume":"123","author":"Gu","year":"2008","journal-title":"Cytogenet Genome Res"},{"key":"10.1002\/humu.22355-BIB0013|humu22355-cit-0013","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1038\/sj.ejhg.5201594","article-title":"Rubinstein-Taybi syndrome","volume":"14","author":"Hennekam","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22355-BIB0014|humu22355-cit-0014","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1002\/uog.7754","article-title":"Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis","volume":"37","author":"Hillman","year":"2011","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1002\/humu.22355-BIB0015|humu22355-cit-0015","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1002\/ajmg.a.35625","article-title":"Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array","volume":"161A","author":"Izumi","year":"2013","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22355-BIB0016|humu22355-cit-0016","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1097\/GIM.0b013e31822c79f9","article-title":"An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities","volume":"13","author":"Kaminsky","year":"2011","journal-title":"Genet Med"},{"key":"10.1002\/humu.22355-BIB0017|humu22355-cit-0017","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.cll.2011.08.003","article-title":"Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations","volume":"31","author":"Kearney","year":"2011","journal-title":"Clin Lab Med"},{"key":"10.1002\/humu.22355-BIB0018|humu22355-cit-0018","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1111\/j.1471-0528.2012.03279.x","article-title":"Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies","volume":"119","author":"Lee","year":"2012","journal-title":"BJOG"},{"key":"10.1002\/humu.22355-BIB0019|humu22355-cit-0019","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/pd.3849","article-title":"Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing","volume":"32","author":"McGillivray","year":"2012","journal-title":"Prenat Diagn"},{"key":"10.1002\/humu.22355-BIB0020|humu22355-cit-0020","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22355-BIB0021|humu22355-cit-0021","volume-title":"SHOX-related haploinsufficiency disorders","author":"Munns","year":"1993"},{"key":"10.1002\/humu.22355-BIB0022|humu22355-cit-0022","unstructured":"Oudesluijs G Riedijk SR Srebniak MI Joosten AM Govaerts LCP Diderich KEM Boter M Van Opstal D Tibben A Galjaard RJH 2011 SNP array analysis in prenatal diagnosis: what do pregnant couples want to know"},{"key":"10.1002\/humu.22355-BIB0023|humu22355-cit-0023","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1097\/GIM.0b013e318148b976","article-title":"Controversies and challenges of array comparative genomic hybridization in prenatal genetic diagnosis","volume":"9","author":"Pergament","year":"2007","journal-title":"Genet Med"},{"key":"10.1002\/humu.22355-BIB0024|humu22355-cit-0024","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1750-1172-3-14","article-title":"Deletion 22q13.3 syndrome","volume":"3","author":"Phelan","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"10.1002\/humu.22355-BIB0025|humu22355-cit-0025","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1002\/ajmg.a.33184","article-title":"The MECP2 duplication syndrome","volume":"152A","author":"Ramocki","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22355-BIB0026|humu22355-cit-0026","doi-asserted-by":"crossref","first-page":"e6711","DOI":"10.1371\/journal.pone.0006711","article-title":"Visualization of shared genomic regions and meiotic recombination in high-density SNP data","volume":"4","author":"Roberson","year":"2009","journal-title":"PLoS One"},{"key":"10.1002\/humu.22355-BIB0027|humu22355-cit-0027","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1097\/GCO.0b013e32834457c7","article-title":"Evolving applications of microarray analysis in prenatal diagnosis","volume":"23","author":"Savage","year":"2011","journal-title":"Curr Opin Obstet Gynecol"},{"key":"10.1002\/humu.22355-BIB0028|humu22355-cit-0028","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1002\/pd.3856","article-title":"Referral patterns for microarray testing in prenatal diagnosis","volume":"32","author":"Shaffer","year":"2012","journal-title":"Prenat Diagn"},{"key":"10.1002\/humu.22355-BIB0029|humu22355-cit-0029","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1016\/S0140-6736(07)60239-6","article-title":"Microarray genetic screening: a prenatal roadblock for life","volume":"369","author":"Shuster","year":"2007","journal-title":"Lancet"},{"key":"10.1002\/humu.22355-BIB0030|humu22355-cit-0030","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1038\/ejhg.2011.119","article-title":"Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow","volume":"19","author":"Srebniak","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22355-BIB0031|humu22355-cit-0031","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1755-8166-5-14","article-title":"Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities","volume":"5","author":"Srebniak","year":"2012","journal-title":"Mol Cytogenet"},{"key":"10.1002\/humu.22355-BIB0032|humu22355-cit-0032","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1586\/erm.11.43","article-title":"Copy-number changes in prenatal diagnosis","volume":"11","author":"Strassberg","year":"2011","journal-title":"Expert Rev Mol Diagn"},{"key":"10.1002\/humu.22355-BIB0033|humu22355-cit-0033","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1038\/jhg.2011.52","article-title":"A population-based study of copy number variants and regions of homozygosity in healthy Swedish individuals","volume":"56","author":"Teo","year":"2011","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.22355-BIB0034|humu22355-cit-0034","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1136\/jmg.2008.065482","article-title":"High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings","volume":"46","author":"Tyreman","year":"2009","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22355-BIB0035|humu22355-cit-0035","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.ejogrb.2004.10.005","article-title":"How unexpected are unexpected findings in prenatal cytogenetic diagnosis? A literature review","volume":"120","author":"Zwieten","year":"2005","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"10.1002\/humu.22355-BIB0036|humu22355-cit-0036","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1038\/ejhg.2011.83","article-title":"The causality of de novo copy number variants is overestimated","volume":"19","author":"Vermeesch","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22355-BIB0037|humu22355-cit-0037","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1002\/humu.22050","article-title":"The introduction of arrays in prenatal diagnosis: a special challenge","volume":"33","author":"Vetro","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22355-BIB0038|humu22355-cit-0038","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/pd.3863","article-title":"Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial","volume":"32","author":"Wapner","year":"2012a","journal-title":"Prenat Diagn"},{"key":"10.1002\/humu.22355-BIB0039|humu22355-cit-0039","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","article-title":"Chromosomal microarray versus karyotyping for prenatal diagnosis","volume":"367","author":"Wapner","year":"2012b","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.22355-BIB0040|humu22355-cit-0040","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.siny.2010.12.001","article-title":"Array technology in prenatal diagnosis","volume":"16","author":"Zuffardi","year":"2011","journal-title":"Semin Fetal Neonatal Med"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22355","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22355\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:45Z","timestamp":1672332885000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22355"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,6]]},"references-count":40,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2013,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22355","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2013,6,6]]}}}