{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T02:02:16Z","timestamp":1767837736024,"version":"3.49.0"},"reference-count":22,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1117510"],"award-info":[{"award-number":["APP1117510"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1194633"],"award-info":[{"award-number":["APP1194633"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP2007769"],"award-info":[{"award-number":["APP2007769"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000942","name":"Brain Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000942","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020541","name":"Royal Adelaide Hospital Research Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020541","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1016\/j.nmd.2023.04.002","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T02:06:04Z","timestamp":1680573964000},"page":"484-489","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis"],"prefix":"10.1016","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2309-2086","authenticated-orcid":false,"given":"Roula","family":"Ghaoui","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thuong T.","family":"Ha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Kerkhof","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haley","family":"McConkey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Song","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Babic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rob","family":"King","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianina","family":"Ravenscroft","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Koszyca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophia","family":"Otto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nigel G.","family":"Laing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamish","family":"Scott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bekim","family":"Sadikovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin S.","family":"Kassahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.nmd.2023.04.002_bib0001","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1038\/ng.2917","article-title":"Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability","volume":"46","author":"Tatton-Brown","year":"2014","journal-title":"Nat Genet"},{"issue":"5","key":"10.1016\/j.nmd.2023.04.002_bib0002","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.ajhg.2017.03.010","article-title":"Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability","volume":"100","author":"Tatton-Brown","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"11","key":"10.1016\/j.nmd.2023.04.002_bib0003","doi-asserted-by":"crossref","first-page":"3022","DOI":"10.1002\/ajmg.a.38485","article-title":"The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies","volume":"173","author":"Shen","year":"2017","journal-title":"Am J Med Genet A"},{"issue":"8","key":"10.1016\/j.nmd.2023.04.002_bib0004","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1111\/dmcn.14426","article-title":"Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes","volume":"62","author":"Lane","year":"2020","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.nmd.2023.04.002_bib0005","doi-asserted-by":"crossref","first-page":"46","DOI":"10.12688\/wellcomeopenres.14430.1","article-title":"The Tatton-Brown-Rahman Syndrome: a clinical study of 55 individuals with de novo constitutive DNMT3A variants","volume":"3","author":"Tatton-Brown","year":"2018","journal-title":"Wellcome Open Res"},{"issue":"1","key":"10.1016\/j.nmd.2023.04.002_bib0006","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/s41439-020-0102-6","article-title":"Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder","volume":"7","author":"Yokoi","year":"2020","journal-title":"Human Genome Variation"},{"issue":"1","key":"10.1016\/j.nmd.2023.04.002_bib0007","doi-asserted-by":"crossref","first-page":"4549","DOI":"10.1038\/s41467-021-24800-7","article-title":"Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome","volume":"12","author":"Smith","year":"2021","journal-title":"Nat Commun"},{"issue":"9","key":"10.1016\/j.nmd.2023.04.002_bib0008","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1038\/nrg887","article-title":"Chromatin modification and epigenetic reprogramming in mammalian development","volume":"3","author":"Li","year":"2002","journal-title":"Nat Rev Genet"},{"issue":"25","key":"10.1016\/j.nmd.2023.04.002_bib0009","doi-asserted-by":"crossref","first-page":"2424","DOI":"10.1056\/NEJMoa1005143","article-title":"DNMT3A mutations in acute myeloid leukemia","volume":"363","author":"Ley","year":"2010","journal-title":"N Engl J Med"},{"issue":"3","key":"10.1016\/j.nmd.2023.04.002_bib0010","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/nrc3895","article-title":"DNMT3A in haematological malignancies","volume":"15","author":"Yang","year":"2015","journal-title":"Nat Rev Cancer"},{"issue":"22","key":"10.1016\/j.nmd.2023.04.002_bib0011","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1056\/NEJMoa1301689","article-title":"Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia","volume":"368","author":"Cancer Genome Atlas Research","year":"2013","journal-title":"N Engl J Med"},{"key":"10.1016\/j.nmd.2023.04.002_bib0012","doi-asserted-by":"crossref","DOI":"10.3324\/haematol.2021.280329","article-title":"Pseudo-mutant P53 is a unique phenotype of DNMT3A-mutated pre-leukemia","author":"Tuval","year":"2022","journal-title":"Haematologica"},{"issue":"1","key":"10.1016\/j.nmd.2023.04.002_bib0013","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.celrep.2018.03.025","article-title":"Loss of Dnmt3a immortalizes hematopoietic stem cells in vivo","volume":"23","author":"Jeong","year":"2018","journal-title":"Cell Rep"},{"issue":"4","key":"10.1016\/j.nmd.2023.04.002_bib0014","doi-asserted-by":"crossref","first-page":"887","DOI":"10.3324\/haematol.2021.278990","article-title":"Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome","volume":"107","author":"Tovy","year":"2022","journal-title":"Haematologica"},{"issue":"7","key":"10.1016\/j.nmd.2023.04.002_bib0015","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006167","article-title":"Dnmt3a regulates proliferation of muscle satellite cells via p57Kip2","volume":"12","author":"Naito","year":"2016","journal-title":"PLoS Genet"},{"issue":"9","key":"10.1016\/j.nmd.2023.04.002_bib0016","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2020106491","article-title":"A necessary role of DNMT3A in endurance exercise by suppressing ALDH1L1-mediated oxidative stress","volume":"40","author":"Damal Villivalam","year":"2021","journal-title":"EMBO J"},{"issue":"5","key":"10.1016\/j.nmd.2023.04.002_bib0017","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1016\/j.ajhg.2016.03.013","article-title":"Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy","volume":"98","author":"van den Boogaard","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"6","key":"10.1016\/j.nmd.2023.04.002_bib0018","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1038\/s41436-020-01096-4","article-title":"Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders","volume":"23","author":"Sadikovic","year":"2021","journal-title":"Genet Med"},{"issue":"3","key":"10.1016\/j.nmd.2023.04.002_bib0019","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.ajhg.2020.01.019","article-title":"Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 mendelian neurodevelopmental disorders","volume":"106","author":"Aref-Eshghi","year":"2020","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.nmd.2023.04.002_bib0020","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.ajhg.2019.03.008","article-title":"Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions","volume":"104","author":"Aref-Eshghi","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.nmd.2023.04.002_bib0021","article-title":"Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders","volume":"3","author":"Levy","year":"2022","journal-title":"HGG Adv"},{"issue":"4","key":"10.1016\/j.nmd.2023.04.002_bib0022","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/s41431-019-0485-3","article-title":"Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients","volume":"28","author":"Tenorio","year":"2020","journal-title":"Eur J Hum Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623000998?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623000998?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:13:20Z","timestamp":1760775200000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896623000998"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["S0960896623000998"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2023.04.002","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2023.04.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown Copyright \u00a9 2023 Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}