{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T03:51:32Z","timestamp":1782877892331,"version":"3.54.5"},"reference-count":23,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","nmd-journal.com","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.1016\/j.nmd.2024.07.003","type":"journal-article","created":{"date-parts":[[2024,7,6]],"date-time":"2024-07-06T06:30:35Z","timestamp":1720247435000},"page":"36-42","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy"],"prefix":"10.1016","volume":"42","author":[{"given":"Lein","family":"Dofash","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishnan","family":"Iyengar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nolette","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jevin","family":"Parmar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Folland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel","family":"Laing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter B.","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Cairns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianina","family":"Ravenscroft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2024.07.003_bib0001","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1242\/dev.148007","article-title":"The developmental biology of genetic Notch disorders","volume":"144","author":"Ma\u0161ek","year":"2017","journal-title":"Development"},{"key":"10.1016\/j.nmd.2024.07.003_bib0002","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1016\/j.ajhg.2021.03.020","article-title":"A form of muscular dystrophy associated with pathogenic variants in JAG2","volume":"108","author":"Coppens","year":"2021","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2024.07.003_bib0003","doi-asserted-by":"crossref","first-page":"S118","DOI":"10.1016\/j.nmd.2023.07.211","article-title":"P301 Novel JAG2 variants in the first identified Dutch patient with limb-girdle muscular dystrophy R27 and a neuropsychiatric phenotype","volume":"33","author":"Schrama","year":"2023","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2024.07.003_bib0004","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1038\/s41596-020-00462-5","article-title":"Detection of aberrant gene expression events in RNA sequencing data","volume":"16","author":"Y\u00e9pez","year":"2021","journal-title":"Nat Protoc"},{"key":"10.1016\/j.nmd.2024.07.003_bib0005","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2024.07.003_bib0006","article-title":"Predicting functional effect of human missense mutations using polyphen-2","volume":"76","author":"Adzhubei","year":"2013","journal-title":"Curr Protoc Hum Genet"},{"key":"10.1016\/j.nmd.2024.07.003_bib0007","doi-asserted-by":"crossref","first-page":"e46688","DOI":"10.1371\/journal.pone.0046688","article-title":"Predicting the functional effect of amino acid substitutions and indels","volume":"7","author":"Choi","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.nmd.2024.07.003_bib0008","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2024.07.003_bib0009","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2018","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2024.07.003_bib0010","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"},{"key":"10.1016\/j.nmd.2024.07.003_bib0011","doi-asserted-by":"crossref","first-page":"2197","DOI":"10.1002\/humu.23879","article-title":"Alagille syndrome mutation update: comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification","volume":"40","author":"Gilbert","year":"2019","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2024.07.003_bib0012","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/S0092-8674(00)81259-3","article-title":"Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the marfan syndrome and other genetic disorders","volume":"85","author":"Downing","year":"1996","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2024.07.003_bib0013","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jmedgenet-2020-106901","article-title":"Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics","volume":"58","author":"Ravenscroft","year":"2021","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2024.07.003_bib0014","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/humu.9102","article-title":"Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome","volume":"21","author":"R\u00f6pke","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2024.07.003_bib0015","first-page":"1357","article-title":"Aminode: identification of evolutionary constraints in the","volume":"8","author":"Chang","year":"2018","journal-title":"Human Proteome Sci Rep."},{"key":"10.1016\/j.nmd.2024.07.003_bib0016","doi-asserted-by":"crossref","first-page":"4168","DOI":"10.1093\/bioinformatics\/btz184","article-title":"FoldX 5.0: working with RNA, small molecules and a new graphical interface","volume":"35","author":"Delgado","year":"2019","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2024.07.003_bib0017","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2024.07.003_bib0018","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/S0022-2836(02)00442-4","article-title":"Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations","volume":"320","author":"Guerois","year":"2002","journal-title":"J Mol Biol"},{"key":"10.1016\/j.nmd.2024.07.003_bib0019","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1093\/hmg\/10.4.405","article-title":"Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome","volume":"10","author":"Morrissette","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2024.07.003_bib0020","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/j.ajhg.2015.07.015","article-title":"Heterozygous loss-of-function mutations in DLL4 cause adams-oliver syndrome","volume":"97","author":"Meester","year":"2015","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2024.07.003_bib0021","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/j.ajhg.2019.07.002","article-title":"Haploinsufficiency of the notch ligand DLL1 causes variable neurodevelopmental disorders","volume":"105","author":"Fischer-Zirnsak","year":"2019","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2024.07.003_bib0022","article-title":"Current and future approaches to classify VUSs in LGMD-related genes","volume":"13","author":"Li","year":"2022","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.nmd.2024.07.003_bib0023","doi-asserted-by":"crossref","first-page":"2096","DOI":"10.1111\/j.1742-4658.2012.08595.x","article-title":"Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome","volume":"279","author":"Tada","year":"2012","journal-title":"FEBS J"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896624001445?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896624001445?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T06:19:05Z","timestamp":1736230745000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896624001445"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":23,"alternative-id":["S0960896624001445"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2024.07.003","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2024,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2024.07.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}