{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:46:01Z","timestamp":1772120761045,"version":"3.50.1"},"reference-count":18,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,1,22]],"date-time":"2024-01-22T00:00:00Z","timestamp":1705881600000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["gimopen.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine Open"],"published-print":{"date-parts":[[2024]]},"DOI":"10.1016\/j.gimo.2024.101817","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T02:52:01Z","timestamp":1706496721000},"page":"101817","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing"],"prefix":"10.1016","volume":"2","author":[{"given":"Kun","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4224-7277","authenticated-orcid":false,"given":"Daniel","family":"Quiat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"She","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanwei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alireza","family":"Haghighi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven Robert","family":"DePalma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine E.","family":"Seidman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan G.","family":"Seidman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gimo.2024.101817_bib1","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/B978-0-444-64076-5.00035-1","article-title":"Facioscapulohumeral muscular dystrophy","volume":"148","author":"Tawil","year":"2018","journal-title":"Handb Clin Neurol"},{"issue":"1","key":"10.1016\/j.gimo.2024.101817_bib2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/mus.20522","article-title":"Facioscapulohumeral muscular dystrophy","volume":"34","author":"Tawil","year":"2006","journal-title":"Muscle Nerve"},{"issue":"6","key":"10.1016\/j.gimo.2024.101817_bib3","doi-asserted-by":"crossref","first-page":"982","DOI":"10.3390\/diagnostics11060982","article-title":"FSHD1 Diagnosis in a Russian population using a qPCR-based approach","volume":"11","author":"Zernov","year":"2021","journal-title":"Diagnostics (Basel)"},{"issue":"10","key":"10.1016\/j.gimo.2024.101817_bib4","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1001181","article-title":"Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene","volume":"6","author":"Snider","year":"2010","journal-title":"PLoS Genet"},{"issue":"9","key":"10.1016\/j.gimo.2024.101817_bib5","first-page":"2886","article-title":"Therapeutic strategies targeting DUX4 in FSHD","volume":"9","author":"Le Gall","year":"2020","journal-title":"J\u00a0Clin Med"},{"issue":"5999","key":"10.1016\/j.gimo.2024.101817_bib6","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1126\/science.1189044","article-title":"A\u00a0unifying genetic model for facioscapulohumeral muscular dystrophy","volume":"329","author":"Lemmers","year":"2010","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.gimo.2024.101817_bib7","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s13311-018-00675-3","article-title":"Facioscapulohumeral muscular dystrophy: update on pathogenesis and future treatments","volume":"15","author":"Hamel","year":"2018","journal-title":"Neurotherapeutics"},{"issue":"4","key":"10.1016\/j.gimo.2024.101817_bib8","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1007\/s10897-011-9422-5","article-title":"Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population","volume":"21","author":"Yanoov-Sharav","year":"2012","journal-title":"J\u00a0Genet Couns"},{"key":"10.1016\/j.gimo.2024.101817_bib9","article-title":"Prevalence and disease progression of genetically confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study","volume":"18","author":"Wang","year":"2022","journal-title":"Lancet Reg Health West Pac"},{"issue":"11","key":"10.1016\/j.gimo.2024.101817_bib10","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1016\/j.jmoldx.2021.07.021","article-title":"Validation of optical genome mapping for the molecular diagnosis of facioscapulohumeral muscular dystrophy","volume":"23","author":"Stence","year":"2021","journal-title":"J\u00a0Mol Diagn"},{"issue":"12","key":"10.1016\/j.gimo.2024.101817_bib11","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1016\/j.nmd.2015.08.008","article-title":"Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD","volume":"25","author":"Vasale","year":"2015","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.gimo.2024.101817_bib12","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-13712-6","article-title":"Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy","volume":"7","author":"Mitsuhashi","year":"2017","journal-title":"Sci Rep"},{"issue":"4","key":"10.1016\/j.gimo.2024.101817_bib13","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/nbt.4060","article-title":"Nanopore sequencing and assembly of a human genome with ultra-long reads","volume":"36","author":"Jain","year":"2018","journal-title":"Nat Biotechnol"},{"issue":"6588","key":"10.1016\/j.gimo.2024.101817_bib14","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1126\/science.abj6987","article-title":"The complete sequence of a human genome","volume":"376","author":"Nurk","year":"2022","journal-title":"Science"},{"issue":"23","key":"10.1016\/j.gimo.2024.101817_bib15","doi-asserted-by":"crossref","first-page":"4572","DOI":"10.1093\/bioinformatics\/btab705","article-title":"New strategies to improve minimap2 alignment accuracy","volume":"37","author":"Li","year":"2021","journal-title":"Bioinformatics"},{"issue":"6","key":"10.1016\/j.gimo.2024.101817_bib16","first-page":"1916","article-title":"Facioscapulohumeral muscular dystrophy","volume":"22","author":"Statland","year":"2016","journal-title":"Continuum (Minneap Minn)"},{"issue":"7","key":"10.1016\/j.gimo.2024.101817_bib17","doi-asserted-by":"crossref","first-page":"e1054","DOI":"10.1212\/WNL.0000000000011412","article-title":"CLIA laboratory testing for facioscapulohumeral dystrophy: a retrospective analysis","volume":"96","author":"Rieken","year":"2021","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.gimo.2024.101817_bib18","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1186\/s12967-022-03743-7","article-title":"Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing","volume":"20","author":"Hiramuki","year":"2022","journal-title":"J\u00a0Transl Med"}],"container-title":["Genetics in Medicine Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949774424009634?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949774424009634?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T04:09:51Z","timestamp":1735272591000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2949774424009634"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":18,"alternative-id":["S2949774424009634"],"URL":"https:\/\/doi.org\/10.1016\/j.gimo.2024.101817","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2023.06.05.23290975","asserted-by":"object"}]},"ISSN":["2949-7744"],"issn-type":[{"value":"2949-7744","type":"print"}],"subject":[],"published":{"date-parts":[[2024]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine Open","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gimo.2024.101817","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"101817"}}