{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T02:39:54Z","timestamp":1781663994185,"version":"3.54.5"},"reference-count":20,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T00:00:00Z","timestamp":1477958400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T00:00:00Z","timestamp":1477958400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001407","name":"DBT","doi-asserted-by":"publisher","award":["BT\/PR3193\/MED\/12\/521\/2011"],"award-info":[{"award-number":["BT\/PR3193\/MED\/12\/521\/2011"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2016,11]]},"DOI":"10.1016\/j.nmd.2016.07.004","type":"journal-article","created":{"date-parts":[[2016,7,17]],"date-time":"2016-07-17T06:54:19Z","timestamp":1468738459000},"page":"809-814","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing"],"prefix":"10.1016","volume":"26","author":[{"given":"Aneek","family":"Das Bhowmik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Divya","family":"Matta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rukmini M.","family":"Kandadai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meena A.","family":"Kanikannan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shagun","family":"Aggarwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2016.07.004_bib0010","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1172\/JCI3793","article-title":"Antisense targeting of perlecan blocks tumor growth and angiogenesis in vivo","volume":"102","author":"Sharma","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2016.07.004_bib0015","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2016.07.004_bib0020","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2016.07.004_bib0025","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"10.1016\/j.nmd.2016.07.004_bib0030","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from next-generation sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2016.07.004_bib0035","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.gene.2015.08.053","article-title":"Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome","volume":"572","author":"Das Bhowmik","year":"2015","journal-title":"Gene"},{"key":"10.1016\/j.nmd.2016.07.004_bib0040","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2016.07.004_bib0045","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1002\/humu.20901","article-title":"IARC Unclassified Genetic Variants Working Group. Prediction and assessment of splicing alterations: implications for clinical testing","volume":"29","author":"Spurdle","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2016.07.004_bib0050","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/bioinformatics\/bti770","article-title":"The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling","volume":"22","author":"Arnold","year":"2006","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2016.07.004_bib0055","doi-asserted-by":"crossref","first-page":"W5","DOI":"10.1093\/nar\/gkn201","article-title":"NCBI BLAST: a better web interface","volume":"36","author":"Johnson","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2016.07.004_bib0060","doi-asserted-by":"crossref","first-page":"W310","DOI":"10.1093\/nar\/gkl206","article-title":"GRAMM-X public web server for protein-protein docking","volume":"34","author":"Tovchigrechko","year":"2006","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2016.07.004_bib0065","doi-asserted-by":"crossref","first-page":"W363","DOI":"10.1093\/nar\/gki481","article-title":"PatchDock and SymmDock: servers for rigid and symmetric docking","volume":"33","author":"Schneidman-Duhovny","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2016.07.004_bib0070","doi-asserted-by":"crossref","first-page":"7341","DOI":"10.1074\/jbc.M513746200","article-title":"WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan","volume":"281","author":"Allen","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2016.07.004_bib0075","doi-asserted-by":"crossref","first-page":"1368","DOI":"10.1086\/340390","article-title":"Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia","volume":"70","author":"Arikawa-Hirasawa","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2016.07.004_bib0080","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1002\/humu.20388","article-title":"Spectrum of HSPG2 (perlecan) mutations in patients with Schwartz-Jampel syndrome","volume":"27","author":"Stum","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2016.07.004_bib0085","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1007\/s004310050587","article-title":"Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia","volume":"156","author":"Giedion","year":"1997","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.nmd.2016.07.004_bib0090","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/nrm1702","article-title":"Basement membrane proteoglycans: from cellar to ceiling","volume":"6","author":"Iozzo","year":"2005","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.nmd.2016.07.004_bib0095","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1038\/82638","article-title":"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)","volume":"26","author":"Nicole","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2016.07.004_bib0100","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1083\/jcb.116.2.559","article-title":"Human basement membrane heparan sulfate proteoglycan core protein: a 467-kD protein containing multiple domains resembling elements of the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor","volume":"116","author":"Kallunki","year":"1992","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2016.07.004_bib0105","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1083\/jcb.147.5.909","article-title":"Life without perlecan has its problems","volume":"147","author":"Olsen","year":"1999","journal-title":"J Cell Biol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896615300559?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896615300559?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:05:08Z","timestamp":1760774708000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896615300559"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["S0960896615300559"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2016.07.004","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2016,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2016.07.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}