{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T13:13:20Z","timestamp":1778937200958,"version":"3.51.4"},"reference-count":41,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T00:00:00Z","timestamp":1696377600000},"content-version":"vor","delay-in-days":276,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["206194"],"award-info":[{"award-number":["206194"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["25533962"],"award-info":[{"award-number":["25533962"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","gimopen.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine Open"],"published-print":{"date-parts":[[2023]]},"DOI":"10.1016\/j.gimo.2023.100836","type":"journal-article","created":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T22:22:57Z","timestamp":1697062977000},"page":"100836","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study"],"prefix":"10.1016","volume":"1","author":[{"given":"Ruth Y.","family":"Eberhardt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline F.","family":"Wright","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"FitzPatrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew E.","family":"Hurles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6410-0882","authenticated-orcid":false,"given":"Helen V.","family":"Firth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"6144","key":"10.1016\/j.gimo.2023.100836_bib1","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1126\/science.1239503","article-title":"Genetics. Genome mosaicism\u2014one human, multiple genomes","volume":"341","author":"Lupski","year":"2013","journal-title":"Science"},{"issue":"6141","key":"10.1016\/j.gimo.2023.100836_bib2","doi-asserted-by":"crossref","DOI":"10.1126\/science.1237758","article-title":"Somatic mutation, genomic variation, and neurological disease","volume":"341","author":"Poduri","year":"2013","journal-title":"Science"},{"issue":"10","key":"10.1016\/j.gimo.2023.100836_bib3","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/hmg\/ddv033","article-title":"Mosaic structural variation in children with developmental disorders","volume":"24","author":"King","year":"2015","journal-title":"Hum Mol Genet"},{"issue":"10","key":"10.1016\/j.gimo.2023.100836_bib4","doi-asserted-by":"crossref","first-page":"1704","DOI":"10.1101\/gr.212373.116","article-title":"Detection of structural mosaicism from targeted and whole-genome sequencing data","volume":"27","author":"King","year":"2017","journal-title":"Genome Res"},{"issue":"2","key":"10.1016\/j.gimo.2023.100836_bib5","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1038\/nrg.2016.145","article-title":"Mosaicism in health and disease-clones picking up speed","volume":"18","author":"Forsberg","year":"2017","journal-title":"In:. Nat Rev Genet: Nature Publishing Group"},{"issue":"7","key":"10.1016\/j.gimo.2023.100836_bib6","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"},{"issue":"3","key":"10.1016\/j.gimo.2023.100836_bib7","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jmg.40.3.175","article-title":"Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism","volume":"40","author":"Yong","year":"2003","journal-title":"J\u00a0Med Genet"},{"issue":"5","key":"10.1016\/j.gimo.2023.100836_bib8","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nrg3424","article-title":"A\u00a0genomic view of mosaicism and human disease","volume":"14","author":"Biesecker","year":"2013","journal-title":"Nat Rev Genet"},{"issue":"12","key":"10.1016\/j.gimo.2023.100836_bib9","doi-asserted-by":"crossref","first-page":"2382","DOI":"10.1002\/ajmg.a.61365","article-title":"Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis","volume":"179","author":"Goel","year":"2019","journal-title":"Am J Med Genet A"},{"issue":"10","key":"10.1016\/j.gimo.2023.100836_bib10","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1002\/ajmg.a.36127","article-title":"Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) in England and Wales: 2004-2011","volume":"161","author":"Wu","year":"2013","journal-title":"Am J Med Genet A"},{"issue":"12","key":"10.1016\/j.gimo.2023.100836_bib11","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1002\/ccr3.705","article-title":"Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder","volume":"4","author":"Ahram","year":"2016","journal-title":"Clin Case Rep"},{"key":"10.1016\/j.gimo.2023.100836_bib12","series-title":"Uniparental Disomy and Disorders of Imprinting","volume":"1","author":"McKinlay Gardner","year":"2018"},{"issue":"1","key":"10.1016\/j.gimo.2023.100836_bib13","first-page":"230","article-title":"Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay","volume":"176","author":"Myers","year":"2018","journal-title":"Am J Med\u00a0Genet A"},{"issue":"1","key":"10.1016\/j.gimo.2023.100836_bib14","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/ccr3.1300","article-title":"Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome","volume":"6","author":"Haug","year":"2018","journal-title":"Clin Case Rep"},{"key":"10.1016\/j.gimo.2023.100836_bib15","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1186\/1471-2105-12-166","article-title":"A\u00a0fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data","volume":"12","author":"Gonz\u00e1lez","year":"2011","journal-title":"BMC Bioinformatics"},{"issue":"3","key":"10.1016\/j.gimo.2023.100836_bib16","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1093\/bioinformatics\/btm601","article-title":"Sparse representation and Bayesian detection of genome copy number alterations from microarray data","volume":"24","author":"Pique-Regi","year":"2008","journal-title":"Bioinformatics"},{"issue":"1","key":"10.1016\/j.gimo.2023.100836_bib17","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1186\/1471-2164-14-367","article-title":"Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method","volume":"14","author":"Baugher","year":"2013","journal-title":"BMC Genomics"},{"issue":"1","key":"10.1016\/j.gimo.2023.100836_bib18","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1186\/s12864-021-07395-7","article-title":"MONTAGE: a new tool for high-throughput detection of mosaic copy number variation","volume":"22","author":"Glessner","year":"2021","journal-title":"BMC Genomics"},{"issue":"7819","key":"10.1016\/j.gimo.2023.100836_bib19","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/s41586-020-2430-6","article-title":"Monogenic and polygenic inheritance become instruments for clonal selection","volume":"584","author":"Loh","year":"2020","journal-title":"Nature"},{"issue":"7714","key":"10.1016\/j.gimo.2023.100836_bib20","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/s41586-018-0321-x","article-title":"Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations","volume":"559","author":"Loh","year":"2018","journal-title":"Nature"},{"issue":"8","key":"10.1016\/j.gimo.2023.100836_bib21","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1111\/j.1469-8749.2011.04032.x","article-title":"The Deciphering Developmental Disorders (DDD) study","volume":"53","author":"Firth","year":"2011","journal-title":"Dev Med Child Neurol"},{"issue":"D1","key":"10.1016\/j.gimo.2023.100836_bib22","doi-asserted-by":"crossref","first-page":"D1018","DOI":"10.1093\/nar\/gky1105","article-title":"Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources","volume":"47","author":"K\u00f6hler","year":"2019","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"10.1016\/j.gimo.2023.100836_bib23","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: database of chromosomal imbalance and phenotype in humans using Ensembl resources","volume":"84","author":"Firth","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.gimo.2023.100836_bib24","author":"Genovese"},{"issue":"1","key":"10.1016\/j.gimo.2023.100836_bib25","doi-asserted-by":"crossref","first-page":"2373","DOI":"10.1038\/s41467-019-10016-3","article-title":"Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP","volume":"10","author":"Thormann","year":"2019","journal-title":"Nat Commun"},{"issue":"9975","key":"10.1016\/j.gimo.2023.100836_bib26","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/S0140-6736(14)61705-0","article-title":"Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data","volume":"385","author":"Wright","year":"2015","journal-title":"Lancet"},{"issue":"2","key":"10.1016\/j.gimo.2023.100836_bib27","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/s41593-020-00766-5","article-title":"Large mosaic copy number variations confer autism risk","volume":"24","author":"Sherman","year":"2021","journal-title":"Nat Neurosci"},{"issue":"10","key":"10.1016\/j.gimo.2023.100836_bib28","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1038\/gim.2017.246","article-title":"Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders","volume":"20","author":"Wright","year":"2018","journal-title":"Genet Med"},{"issue":"2","key":"10.1016\/j.gimo.2023.100836_bib29","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"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":"22","author":"Riggs","year":"2020","journal-title":"Genet Med"},{"issue":"4","key":"10.1016\/j.gimo.2023.100836_bib30","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/ajmg.c.31423","article-title":"Pallister-Killian syndrome","volume":"166C","author":"Izumi","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"2","key":"10.1016\/j.gimo.2023.100836_bib31","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/ajmg.a.34272","article-title":"Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: case report and review of literature","volume":"158a","author":"Brock","year":"2012","journal-title":"Am J Med Genet A"},{"issue":"2","key":"10.1016\/j.gimo.2023.100836_bib32","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/ajmg.a.36843","article-title":"Unusual isochromosome 5p marker chromosome","volume":"167A","author":"Roulet-Coudrier","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"6","key":"10.1016\/j.gimo.2023.100836_bib33","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1016\/j.tjog.2017.10.024","article-title":"Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome","volume":"56","author":"Chen","year":"2017","journal-title":"Taiwan J Obstet Gynecol"},{"issue":"6","key":"10.1016\/j.gimo.2023.100836_bib34","doi-asserted-by":"crossref","first-page":"744","DOI":"10.4103\/0366-6999.201604","article-title":"Mosaicism of tetrasomy 18p: clinical and cytogenetic findings in a female child","volume":"130","author":"Bai","year":"2017","journal-title":"Chin Med J (Engl)"},{"issue":"2","key":"10.1016\/j.gimo.2023.100836_bib35","first-page":"132","article-title":"A\u00a0rare chromosomal disorder \u2013 isochromosome 18p syndrome","volume":"6","author":"Plaiasu","year":"2011","journal-title":"Maedica"},{"issue":"12","key":"10.1016\/j.gimo.2023.100836_bib36","doi-asserted-by":"crossref","first-page":"2716","DOI":"10.1002\/ajmg.a.33099","article-title":"Recurrence risks\u00a0for trisomies 13, 18, and 21","volume":"149A","author":"De Souza","year":"2009","journal-title":"Am J Med Genet A"},{"issue":"3","key":"10.1016\/j.gimo.2023.100836_bib37","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1086\/423331","article-title":"Trisomy recurrence: a reconsideration based on North American data","volume":"75","author":"Warburton","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.1016\/j.gimo.2023.100836_bib38","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1038\/ng.3569","article-title":"SAMD9 mutations cause a novel multisystem disorder, Mirage syndrome, and are associated with loss of chromosome 7","volume":"48","author":"Narumi","year":"2016","journal-title":"Nat Genet"},{"issue":"14","key":"10.1016\/j.gimo.2023.100836_bib39","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.121086","article-title":"Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes","volume":"3","author":"Wong","year":"2018","journal-title":"JCI Insight"},{"issue":"1","key":"10.1016\/j.gimo.2023.100836_bib40","doi-asserted-by":"crossref","first-page":"2985","DOI":"10.1038\/s41467-019-11059-2","article-title":"Clinically relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data","volume":"10","author":"Wright","year":"2019","journal-title":"Nat Commun"},{"issue":"17","key":"10.1016\/j.gimo.2023.100836_bib41","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1056\/NEJMoa2209046","article-title":"Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland","volume":"388","author":"Wright","year":"2023","journal-title":"N\u00a0Engl J Med"}],"container-title":["Genetics in Medicine Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949774423008452?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949774423008452?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T12:57:55Z","timestamp":1778936275000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2949774423008452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023]]}},"alternative-id":["S2949774423008452"],"URL":"https:\/\/doi.org\/10.1016\/j.gimo.2023.100836","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.03.28.22273024","asserted-by":"object"}]},"ISSN":["2949-7744"],"issn-type":[{"value":"2949-7744","type":"print"}],"subject":[],"published":{"date-parts":[[2023]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine Open","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gimo.2023.100836","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"100836"}}