{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T12:03:22Z","timestamp":1790597002381,"version":"4.1.0"},"reference-count":7,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T00:00:00Z","timestamp":1785283200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Global Medical Genetics"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.gmg.2026.100123","type":"journal-article","created":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T06:29:35Z","timestamp":1785565775000},"page":"100123","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Toe walking: A regional analysis of TTN variants between c.10,000 and c.99,999 in a cohort of children"],"prefix":"10.1016","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2592-9348","authenticated-orcid":false,"given":"David","family":"Pomarino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amel","family":"Sidi Athmane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bastian","family":"Fregien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Nazarkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin M.","family":"Rost\u00e1sy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.gmg.2026.100123_bib1","doi-asserted-by":"crossref","DOI":"10.1016\/j.gmg.2026.100095","article-title":"Pediatric toe-walking cohort with heterozygous SBF1 variants: a phenotypic description","volume":"13","author":"Pomarino","year":"2026","journal-title":"Glob. Med. Genet."},{"issue":"4","key":"10.1016\/j.gmg.2026.100123_bib2","doi-asserted-by":"crossref","DOI":"10.1016\/j.gmg.2025.100082","article-title":"Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: a retrospective cohort study","volume":"12","author":"Pomarino","year":"2025","journal-title":"Glob. Med. Genet."},{"issue":"1","key":"10.1016\/j.gmg.2026.100123_bib3","doi-asserted-by":"crossref","first-page":"115","DOI":"10.22540\/JMNI-26-115","article-title":"Clinical features in children with persistent toe walking who carry heterozygous PYGM variants: a cross-sectional study","volume":"26","author":"Pomarino","year":"2026","journal-title":"J. Musculoskelet. Neuron Interact."},{"issue":"23","key":"10.1016\/j.gmg.2026.100123_bib4","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1093\/hmg\/ddae136","article-title":"Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease","volume":"33","author":"Gohlke","year":"2024","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gmg.2026.100123_bib5","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2016.00021","article-title":"A review of the giant protein titin in clinical molecular diagnostics of cardiomyopathies","volume":"3","author":"Gigli","year":"2016","journal-title":"Front. Cardiovasc. Med."},{"key":"10.1016\/j.gmg.2026.100123_bib6","unstructured":"National Center for Biotechnology Information (NCBI). TTN (titin) [Internet]. Bethesda (MD): National Library of Medicine (US); [cited 2026 Apr 20]. Available from: https:\/\/www.ncbi.nlm.nih.gov\/gene\/7273."},{"issue":"11","key":"10.1016\/j.gmg.2026.100123_bib7","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1002\/humu.20880","article-title":"Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results","volume":"29","author":"Plon","year":"2008","journal-title":"Hum. Mutat."}],"container-title":["Global Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2699940426000317?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2699940426000317?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T11:43:56Z","timestamp":1790595836000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2699940426000317"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S2699940426000317"],"URL":"https:\/\/doi.org\/10.1016\/j.gmg.2026.100123","relation":{},"ISSN":["2699-9404"],"issn-type":[{"value":"2699-9404","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Toe walking: A regional analysis of TTN variants between c.10,000 and c.99,999 in a cohort of children","name":"articletitle","label":"Article Title"},{"value":"Global Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gmg.2026.100123","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Publishing services by Elsevier B.V. on behalf of KeAi Communications Co. Ltd.","name":"copyright","label":"Copyright"}],"article-number":"100123"}}