{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T19:15:52Z","timestamp":1793646952560,"version":"4.5.1"},"reference-count":22,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1016\/j.ymgme.2024.108346","type":"journal-article","created":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T05:29:24Z","timestamp":1707802164000},"page":"108346","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Systematic analysis of genotype-phenotype variability in siblings with Aicardi Gouti\u00e8res Syndrome (AGS)"],"prefix":"10.1016","volume":"142","author":[{"given":"Isabella Peixoto","family":"de Barcelos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Woidill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Gavazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholson B.","family":"Modesti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjana","family":"Sevagamoorthy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline","family":"Vanderver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Adang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.ymgme.2024.108346_bb0005","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1038\/s41588-020-00737-3","article-title":"cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing","volume":"52","author":"Uggenti","year":"2020","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108346_bb0010","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ymgme.2020.03.008","article-title":"Development of a neurologic severity scale for Aicardi Gouti\u00e8res syndrome","volume":"130","author":"Adang","year":"2020","journal-title":"Mol. Genet. Metab."},{"issue":"10","key":"10.1016\/j.ymgme.2024.108346_bb0015","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1056\/NEJMc2001362","article-title":"Janus kinase inhibition in the Aicardi-Gouti\u00e8res syndrome","volume":"383","author":"Vanderver","year":"2020","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.ymgme.2024.108346_bb0020","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1055\/s-0034-1393710","article-title":"Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Gouti\u00e8res syndrome","volume":"45","author":"La Piana","year":"2014","journal-title":"Neuropediatrics."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108346_bb0025","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1177\/0883073819870944","article-title":"Developmental outcomes of Aicardi Gouti\u00e8res syndrome","volume":"35","author":"Adang","year":"2020","journal-title":"J. Child Neurol."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108346_bb0030","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.a.36887","article-title":"Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1","volume":"167a","author":"Crow","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"1","key":"10.1016\/j.ymgme.2024.108346_bb0035","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.ejpn.2017.11.003","article-title":"Variable clinical phenotype in two siblings with Aicardi-Gouti\u00e8res syndrome type 6 and a novel mutation in the ADAR gene","volume":"22","author":"Schmelzer","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"5","key":"10.1016\/j.ymgme.2024.108346_bb0040","first-page":"504","article-title":"Clinical and neuroradiologic variability of Aicardi-Gouti\u00e9res syndrome: two siblings with RNASEH2C mutation and a boy with TREX1 mutation","volume":"57","author":"Uyur Yal\u00e7\u0131n","year":"2015","journal-title":"Turk J Pediatr."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108346_bb0045","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","article-title":"Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support","volume":"42","author":"Harris","year":"2009","journal-title":"J. Biomed. Inform."},{"key":"10.1016\/j.ymgme.2024.108346_bb0050","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbi.2019.103208","article-title":"The REDCap consortium: building an international community of software platform partners","volume":"95","author":"Harris","year":"2019","journal-title":"J. Biomed. Inform."},{"key":"10.1016\/j.ymgme.2024.108346_bb0055","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.pediatrneurol.2020.10.012","article-title":"Late-onset Aicardi-Gouti\u00e8res syndrome: a characterization of presenting clinical features","volume":"115","author":"Piccoli","year":"2021","journal-title":"Pediatr. Neurol."},{"issue":"4","key":"10.1016\/j.ymgme.2024.108346_bb0060","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1086\/521373","article-title":"Clinical and molecular phenotype of Aicardi-Goutieres syndrome","volume":"81","author":"Rice","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.ymgme.2024.108346_bb0065","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108346_bb0070","doi-asserted-by":"crossref","first-page":"159","DOI":"10.2307\/2529310","article-title":"The measurement of observer agreement for categorical data","volume":"33","author":"Landis","year":"1977","journal-title":"Biometrics."},{"issue":"5","key":"10.1016\/j.ymgme.2024.108346_bb0075","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1038\/bjc.1991.441","article-title":"Categorising continuous variables","volume":"64","author":"Altman","year":"1991","journal-title":"Br. J. Cancer"},{"issue":"4","key":"10.1016\/j.ymgme.2024.108346_bb0080","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/0165-0270(83)90058-4","article-title":"The interpretation of significance tests for independent and dependent samples","volume":"9","author":"Krauth","year":"1983","journal-title":"J. Neurosci. Methods"},{"issue":"5","key":"10.1016\/j.ymgme.2024.108346_bb0085","article-title":"The R language: an engine for bioinformatics and data science","volume":"12","author":"Giorgi","year":"2022","journal-title":"Life (Basel)"},{"issue":"3","key":"10.1016\/j.ymgme.2024.108346_bb0090","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/ajmg.a.36360","article-title":"Bilateral striatal necrosis in two subjects with Aicardi-Gouti\u00e8res syndrome due to mutations in ADAR1 (AGS6)","volume":"164a","author":"La Piana","year":"2014","journal-title":"Am J Med Genet A."},{"issue":"6","key":"10.1016\/j.ymgme.2024.108346_bb0095","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1055\/s-0036-1592307","article-title":"Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Gouti\u00e8res syndrome and beyond","volume":"47","author":"Livingston","year":"2016","journal-title":"Neuropediatrics."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108346_bb0100","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1186\/s13023-019-1113-6","article-title":"Phenotypic variation between siblings with Metachromatic Leukodystrophy","volume":"14","author":"Elgun","year":"2019","journal-title":"Orphanet J Rare Dis."},{"issue":"6","key":"10.1016\/j.ymgme.2024.108346_bb0105","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1055\/s-0040-1722673","article-title":"Hepatic involvement in Aicardi-Gouti\u00e8res syndrome","volume":"52","author":"Gavazzi","year":"2021","journal-title":"Neuropediatrics."},{"issue":"4","key":"10.1016\/j.ymgme.2024.108346_bb0110","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.ymgme.2022.06.003","article-title":"Hematologic abnormalities in Aicardi Gouti\u00e8res syndrome","volume":"136","author":"Adang","year":"2022","journal-title":"Mol. Genet. Metab."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719224002312?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719224002312?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T17:15:32Z","timestamp":1735233332000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719224002312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["S1096719224002312"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2024.108346","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Systematic analysis of genotype-phenotype variability in siblings with Aicardi Gouti\u00e8res Syndrome (AGS)","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2024.108346","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"108346"}}