{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T16:52:06Z","timestamp":1770742326074,"version":"3.49.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T00:00:00Z","timestamp":1757635200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Jornal de Pediatria"],"published-print":{"date-parts":[[2025,11]]},"DOI":"10.1016\/j.jped.2025.101450","type":"journal-article","created":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T12:55:05Z","timestamp":1760705705000},"page":"101450","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic yield of array-CGH in children with suspected rare disease"],"prefix":"10.1016","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7082-8845","authenticated-orcid":false,"given":"M. Carla","family":"Criado-Muriel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1424-4236","authenticated-orcid":false,"given":"Ram\u00f3n","family":"Arroyo-Ruiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1016-8395","authenticated-orcid":false,"given":"Elena","family":"Marcos-Vadillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-1891-5368","authenticated-orcid":false,"given":"Mar\u00eda","family":"Justel-Rodriguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-4101-4413","authenticated-orcid":false,"given":"Lydia","family":"Alcubilla-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9013-9422","authenticated-orcid":false,"given":"Mar\u00eda","family":"Isidoro-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2680-3285","authenticated-orcid":false,"given":"Pablo","family":"Prieto-Matos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.jped.2025.101450_bib0001","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1186\/s13023-022-02530-3","article-title":"Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry","volume":"17","author":"Benito-Lozano","year":"2022","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"10.1016\/j.jped.2025.101450_bib0002","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/d41573-019-00180-y","article-title":"How many rare diseases are there?","volume":"19","author":"Haendel","year":"2020","journal-title":"Nat Rev Drug Discov"},{"issue":"3","key":"10.1016\/j.jped.2025.101450_bib0003","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/s41588-022-01037-8","article-title":"Rare diseases, common challenges","volume":"54","author":"Genes","year":"2022","journal-title":"Nat Genet"},{"issue":"6","key":"10.1016\/j.jped.2025.101450_bib0004","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1002\/ajmg.a.61124","article-title":"The burden of rare diseases","volume":"179","author":"Ferreira","year":"2019","journal-title":"Am J Med Genet A"},{"issue":"2","key":"10.1016\/j.jped.2025.101450_bib0005","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database","volume":"28","author":"Nguengang Wakap","year":"2020","journal-title":"Eur J Hum Genet"},{"issue":"11","key":"10.1016\/j.jped.2025.101450_bib0006","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1097\/GIM.0b013e3181f8baad","article-title":"Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities","volume":"12","author":"Manning","year":"2010","journal-title":"Genet Med"},{"issue":"11","key":"10.1016\/j.jped.2025.101450_bib0007","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1038\/gim.2013.129","article-title":"ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013","volume":"15","author":"South","year":"2013","journal-title":"Genet Med"},{"issue":"Pt A","key":"10.1016\/j.jped.2025.101450_bib0008","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.mrgentox.2018.08.008","article-title":"History and evolution of cytogenetic techniques: current and future applications in basic and clinical research","volume":"836","author":"Balajee","year":"2018","journal-title":"Mutat Res Genet Toxicol Environ Mutagen"},{"issue":"1","key":"10.1016\/j.jped.2025.101450_bib0009","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.anpedi.2017.07.011","article-title":"Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost-benefit analysis","volume":"89","author":"Castells-Sarret","year":"2018","journal-title":"An Pediatr (Engl Ed)"},{"issue":"5","key":"10.1016\/j.jped.2025.101450_bib0010","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"},{"issue":"7","key":"10.1016\/j.jped.2025.101450_bib0011","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1097\/GIM.0b013e3182217a3a","article-title":"American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants","volume":"13","author":"Kearney","year":"2011","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.jped.2025.101450_bib0012","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41431-018-0244-x","article-title":"European guidelines for constitutional cytogenomic analysis","volume":"27","author":"Silva","year":"2019","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"10.1016\/j.jped.2025.101450_bib0013","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.ejpn.2014.04.010","article-title":"Phenotype profiling of patients with intellectual disability and copy number variations","volume":"18","author":"Rosell\u00f3","year":"2014","journal-title":"Eur J Paediatr Neurol"},{"issue":"5","key":"10.1016\/j.jped.2025.101450_bib0014","doi-asserted-by":"crossref","first-page":"171","DOI":"10.33588\/rn.7105.2020211","article-title":"Array-CGH: importance in the study of developmental delays in pediatrics","volume":"71","author":"Pinheiro","year":"2020","journal-title":"Rev Neurol"},{"issue":"6","key":"10.1016\/j.jped.2025.101450_bib0015","doi-asserted-by":"crossref","DOI":"10.1111\/gbb.12651","article-title":"Appropriateness of array-CGH in the ADHD clinics: a comparative study","volume":"19","author":"Baccarin","year":"2020","journal-title":"Genes Brain Behav"},{"key":"10.1016\/j.jped.2025.101450_bib0016","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2023.1133789","article-title":"The diagnostic yield of CGH and WES in neurodevelopmental disorders","volume":"11","author":"Alotibi","year":"2023","journal-title":"Front Pediatr"},{"issue":"11","key":"10.1016\/j.jped.2025.101450_bib0017","doi-asserted-by":"crossref","first-page":"2230","DOI":"10.1038\/s41436-021-01150-9","article-title":"Correction: technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"23","author":"Riggs","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.jped.2025.101450_bib0018","series-title":"GeneReviews\u00ae","article-title":"22q11.2 Deletion Syndrome","author":"McDonald-McGinn","year":"1999"},{"key":"10.1016\/j.jped.2025.101450_bib0019","series-title":"GeneReviews\u00ae","article-title":"Phelan-McDermid Syndrome-SHANK3 Related","author":"Phelan","year":"2005"},{"key":"10.1016\/j.jped.2025.101450_bib0020","series-title":"GeneReviews\u00ae","article-title":"Potocki-Lupski Syndrome","author":"Potocki","year":"2017"},{"key":"10.1016\/j.jped.2025.101450_bib0021","series-title":"GeneReviews\u00ae","article-title":"Smith-Magenis Syndrome","author":"Smith","year":"2001"},{"issue":"1","key":"10.1016\/j.jped.2025.101450_bib0022","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1186\/s13023-020-01536-z","article-title":"Diagnosis of Rare Diseases: a scoping review of clinical decision support systems","volume":"15","author":"Schaaf","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"10.1016\/j.jped.2025.101450_bib0023","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1111\/cge.12107","article-title":"Chromosomal microarray impacts clinical management","volume":"85","author":"Riggs","year":"2014","journal-title":"Clin Genet"},{"issue":"1","key":"10.1016\/j.jped.2025.101450_bib0024","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13023-016-0409-z","article-title":"Survey of healthcare experiences of Australian adults living with rare diseases","volume":"11","author":"Molster","year":"2016","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"10.1016\/j.jped.2025.101450_bib0025","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.ajhg.2010.03.009","article-title":"Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability","volume":"86","author":"Regier","year":"2010","journal-title":"Am J Hum Genet"}],"container-title":["Jornal de Pediatria"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021755725001391?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021755725001391?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T21:21:20Z","timestamp":1770412880000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021755725001391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["S0021755725001391"],"URL":"https:\/\/doi.org\/10.1016\/j.jped.2025.101450","relation":{},"ISSN":["0021-7557"],"issn-type":[{"value":"0021-7557","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnostic yield of array-CGH in children with suspected rare disease","name":"articletitle","label":"Article Title"},{"value":"Jornal de Pediatria","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jped.2025.101450","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Espa\u00f1a, S.L.U. on behalf of Sociedade Brasileira de Pediatria.","name":"copyright","label":"Copyright"}],"article-number":"101450"}}