{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T05:08:23Z","timestamp":1779340103113,"version":"3.51.4"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:00:00Z","timestamp":1779321600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:00:00Z","timestamp":1779321600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genomics"],"DOI":"10.1186\/s40246-026-00990-3","type":"journal-article","created":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T04:19:42Z","timestamp":1779337182000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Re: \"A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review\""],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7667-187X","authenticated-orcid":false,"given":"Raymond","family":"Dalgleish","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,5,21]]},"reference":[{"key":"990_CR1","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1186\/s40246-025-00816-8","volume":"19","author":"D He","year":"2025","unstructured":"He D, Luo Y, Wei S, Wang Y, Zhang C, Chen S, et al. A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review. Hum Genomics. 2025;19:103.","journal-title":"Hum Genomics"},{"key":"990_CR2","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1002\/humu.22981","volume":"37","author":"JT den Dunnen","year":"2016","unstructured":"den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat. 2016;37:564\u20139.","journal-title":"Hum Mutat"},{"key":"990_CR3","doi-asserted-by":"publisher","first-page":"10616","DOI":"10.1038\/s41598-017-10847-4","volume":"7","author":"JV Gerbracht","year":"2017","unstructured":"Gerbracht JV, Boehm V, Gehring NH. Plasmid transfection influences the readout of nonsense-mediated mRNA decay reporter assays in human cells. Sci Rep. 2017;7:10616.","journal-title":"Sci Rep"},{"key":"990_CR4","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/humu.23348","volume":"39","author":"PJ Freeman","year":"2018","unstructured":"Freeman PJ, Hart RK, Gretton LJ, Brookes AJ, Dalgleish R, VariantValidator. Accurate validation, mapping, and formatting of variation descriptions. Hum Mutat. 2018;39:61\u20138.","journal-title":"Hum Mutat"},{"key":"990_CR5","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/s40246-021-00312-9","volume":"15","author":"V Vasiliou","year":"2021","unstructured":"Vasiliou V, Veselkov K, Bruford E, Reichardt JKV. Standardized nomenclature and open science in Human Genomics. Hum Genomics. 2021;15:13.","journal-title":"Hum Genomics"},{"key":"990_CR6","doi-asserted-by":"crossref","unstructured":"Dalgleish R, Re. Identification of a family with van der Hoeve\u2019s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR\/Cas9-corrected isogenic iPSCs. Hum Cell. 2024;37:1610\u20131.","DOI":"10.1007\/s13577-024-01093-8"},{"key":"990_CR7","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1002\/(SICI)1098-1004(1999)13:4<311::AID-HUMU8>3.0.CO;2-P","volume":"13","author":"JF Bateman","year":"1999","unstructured":"Bateman JF, Freddi S, Lamand\u00e9 SR, Byers P, Nasioulas S, Douglas J, et al. Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability. Hum Mutat. 1999;13:311\u20137.","journal-title":"Hum Mutat"},{"key":"990_CR8","doi-asserted-by":"publisher","first-page":"ziae125","DOI":"10.1093\/jbmrpl\/ziae125","volume":"8","author":"JJ Byrd","year":"2024","unstructured":"Byrd JJ, White AC, Nissen CG, Schissel M, Van Ormer M, Velasco D, et al. Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta. JBMR Plus. 2024;8:ziae125.","journal-title":"JBMR Plus"},{"key":"990_CR9","doi-asserted-by":"publisher","first-page":"1164","DOI":"10.1002\/ajmg.a.63132","volume":"191","author":"S Unger","year":"2023","unstructured":"Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, et al. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023;191:1164\u2013209.","journal-title":"Am J Med Genet A"}],"container-title":["Human Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40246-026-00990-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40246-026-00990-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40246-026-00990-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T04:19:48Z","timestamp":1779337188000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s40246-026-00990-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,21]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["990"],"URL":"https:\/\/doi.org\/10.1186\/s40246-026-00990-3","relation":{},"ISSN":["1479-7364"],"issn-type":[{"value":"1479-7364","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,21]]},"assertion":[{"value":"2 April 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"84"}}