{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:16:27Z","timestamp":1791288987707,"version":"4.3.0"},"reference-count":60,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T00:00:00Z","timestamp":1576195200000},"content-version":"vor","delay-in-days":833,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","journals.elsevierhealth.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Molecular Diagnostics"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1016\/j.jmoldx.2017.05.005","type":"journal-article","created":{"date-parts":[[2017,7,18]],"date-time":"2017-07-18T01:01:42Z","timestamp":1500339702000},"page":"733-741","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":61,"title":["GBA Analysis in Next-Generation Era"],"prefix":"10.1016","volume":"19","author":[{"given":"Stefania","family":"Zampieri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Cattarossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Bembi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Dardis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jmoldx.2017.05.005_bib1","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/0888-7543(89)90319-4","article-title":"The human glucocerebrosidase gene and pseudogene: structure and evolution","volume":"4","author":"Horowitz","year":"1989","journal-title":"Genomics"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib2","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1089\/dna.1988.7.107","article-title":"Structural analysis of the human glucocerebrosidase genes","volume":"7","author":"Reiner","year":"1988","journal-title":"DNA"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib3","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1101\/gr.GR-1677RR","article-title":"Sequence variability of a human pseudogene","volume":"11","author":"Mart\u00ednez-Arias","year":"2001","journal-title":"Genome Res"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib4","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1089\/dna.1990.9.233","article-title":"Sequence of two alleles responsible for Gaucher disease","volume":"9","author":"Hong","year":"1990","journal-title":"DNA Cell Biol"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib5","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1089\/dna.1991.10.15","article-title":"Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients","volume":"10","author":"Latham","year":"1991","journal-title":"DNA Cell Biol"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib6","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1086\/367850","article-title":"Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease","volume":"72","author":"Tayebi","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib7","series-title":"The metabolic and molecular basis of inherited disease","first-page":"3635","article-title":"Gaucher disease","author":"Beutler","year":"2001"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib8","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1002\/humu.20676","article-title":"Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)","volume":"29","author":"Hruska","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib9","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1006\/bcmd.2002.0535","article-title":"High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients","volume":"29","author":"Torralba","year":"2002","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib10","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1006\/geno.1993.1035","article-title":"Identification of six new Gaucher disease mutations","volume":"15","author":"Beutler","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib11","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z","article-title":"Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese","volume":"8","author":"Amaral","year":"1996","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib12","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/(SICI)1098-1004(1999)14:1<88::AID-HUMU16>3.0.CO;2-E","article-title":"Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients","volume":"14","author":"Sarria","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib13","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1136\/adc.77.1.17","article-title":"Mutation analysis in 46 British and Irish patients with Gaucher's disease","volume":"77","author":"Hatton","year":"1997","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib14","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1203\/00006450-199805000-00003","article-title":"Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease","volume":"43","author":"Tayebi","year":"1998","journal-title":"Pediatr Res"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib15","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1006\/mgme.1998.2675","article-title":"Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus","volume":"63","author":"Reissner","year":"1998","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib16","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1006\/bcmd.2000.0317","article-title":"A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease","volume":"26","author":"Cormand","year":"2000","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib17","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1006\/bcmd.2000.0308","article-title":"Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling","volume":"26","author":"Filocamo","year":"2000","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib18","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S","article-title":"Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease","volume":"15","author":"Stone","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib19","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1007\/s004390000380","article-title":"Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene","volume":"107","author":"Tayebi","year":"2000","journal-title":"Hum Genet"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib20","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1006\/mgme.2001.3201","article-title":"Gaucher disease and parkinsonism: a phenotypic and genotypic characterization","volume":"73","author":"Tayebi","year":"2001","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib21","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1056\/NEJMoa0901281","article-title":"Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease","volume":"361","author":"Sidransky","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib22","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.neulet.2009.01.029","article-title":"Complete screening for glucocerebrosidase mutations in Parkinson's disease patients from Greece","volume":"452","author":"Kalinderi","year":"2009","journal-title":"Neurosci Lett"},{"issue":"Pt 7","key":"10.1016\/j.jmoldx.2017.05.005_bib23","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1093\/brain\/awp044","article-title":"Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease","volume":"132","author":"Neumann","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib24","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1093\/hmg\/ddq454","article-title":"Large-scale screening of the Gaucher's disease--related glucocerebrosidase gene in Europeans with Parkinson's disease","volume":"20","author":"Lesage","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib25","doi-asserted-by":"crossref","first-page":"212.e5","DOI":"10.1016\/j.neurobiolaging.2016.04.022","article-title":"Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden","volume":"45","author":"Ran","year":"2016","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib26","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.parkreldis.2007.06.010","article-title":"Association between Parkinson's disease and glucocerebrosidase mutations in Brazil","volume":"14","author":"Spitz","year":"2008","journal-title":"Parkinsonism Relat Disord"},{"issue":"Pt 9","key":"10.1016\/j.jmoldx.2017.05.005_bib27","doi-asserted-by":"crossref","first-page":"2648","DOI":"10.1093\/brain\/awv179","article-title":"Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations","volume":"138","author":"Alcalay","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib28","doi-asserted-by":"crossref","first-page":"415","DOI":"10.3109\/00207454.2015.1023436","article-title":"Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada","volume":"126","author":"Han","year":"2016","journal-title":"Int J Neurosci"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib29","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1212\/WNL.0b013e318207b01e","article-title":"Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa","volume":"76","author":"Lesage","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib30","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1111\/j.1468-1331.2011.03362.x","article-title":"Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan","volume":"18","author":"Huang","year":"2011","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib31","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/jhg.2014.110","article-title":"Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease","volume":"60","author":"Yu","year":"2015","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib32","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1212\/01.wnl.0000176987.47875.28","article-title":"Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation","volume":"65","author":"Aharon-Peretz","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib33","doi-asserted-by":"crossref","first-page":"4693","DOI":"10.1093\/hmg\/ddu158","article-title":"Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes","volume":"23","author":"Vacic","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib34","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.ncl.2016.06.012","article-title":"Epidemiology of Parkinson disease","volume":"34","author":"Lee","year":"2016","journal-title":"Neurol Clin"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib35","doi-asserted-by":"crossref","first-page":"210.e1","DOI":"10.1016\/j.neurobiolaging.2015.09.020","article-title":"Analysis of the genetic variability in Parkinson's disease from Southern Spain","volume":"37","author":"Bandr\u00e9s-Ciga","year":"2016","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib36","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/s13024-016-0097-0","article-title":"Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's disease","volume":"11","author":"Benitez","year":"2016","journal-title":"Mol Neurodegener"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib37","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1007\/s40291-016-0216-1","article-title":"Genetic mutation analysis of Parkinson's disease patients using multigene next-generation sequencing panels","volume":"20","author":"Gorostidi","year":"2016","journal-title":"Mol Diagn Ther"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib38","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/mds.26845","article-title":"Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients","volume":"32","author":"Spataro","year":"2017","journal-title":"Mov Disord"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib39","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1016\/j.parkreldis.2014.09.003","article-title":"Glucocerebrosidase mutations in primary parkinsonism","volume":"20","author":"Asselta","year":"2014","journal-title":"Parkinsonism Relat Disord"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib40","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.neulet.2015.11.001","article-title":"An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease","volume":"610","author":"T\u00f6r\u00f6k","year":"2016","journal-title":"Neurosci Lett"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib41","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/j.parkreldis.2014.06.007","article-title":"Glucocerebrosidase mutations in Thai patients with Parkinson's disease","volume":"20","author":"Pulkes","year":"2014","journal-title":"Parkinsonism Relat Disord"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib42","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1001\/archneurol.2009.72","article-title":"Mutations for Gaucher disease confer high susceptibility to Parkinson disease","volume":"66","author":"Mitsui","year":"2009","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib43","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/mds.26359","article-title":"GBA variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease","volume":"31","author":"Mata","year":"2016","journal-title":"Mov Disord"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib44","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib45","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/humu.10262","article-title":"Standardizing mutation nomenclature: why bother?","volume":"22","author":"den Dunnen","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib46","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/humu.9301","article-title":"Identification and functional characterization of five novel mutant alleles in\u00a058 Italian patients with Gaucher disease type 1","volume":"25","author":"Mioci\u0107","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib47","doi-asserted-by":"crossref","first-page":"e30619","DOI":"10.1371\/journal.pone.0030619","article-title":"FastQC: a quality control tool for high throughput sequence data","volume":"7","author":"Andrews","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib48","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib49","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","article-title":"Integrative genomics viewer","volume":"29","author":"Robinson","year":"2011","journal-title":"Nat Biotechnol"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib50","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1093\/bib\/bbs017","article-title":"Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration","volume":"14","author":"Thorvaldsd\u00f3ttir","year":"2013","journal-title":"Brief Bioinform"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib51","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.humimm.2014.12.016","article-title":"Impact of three Illumina library construction methods on GC bias and HLA genotype calling","volume":"76","author":"Lan","year":"2015","journal-title":"Hum Immunol"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib52","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1086\/302925","article-title":"Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease","volume":"66","author":"Koprivica","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib53","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/jhg.2011.37","article-title":"Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach","volume":"56","author":"Jeong","year":"2011","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib54","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/8904_2012_174","article-title":"Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease","volume":"9","author":"Siebert","year":"2013","journal-title":"JIMD Rep"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib55","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1111\/ped.13069","article-title":"Prenatal diagnosis of Gaucher disease using next-generation sequencing","volume":"58","author":"Yoshida","year":"2016","journal-title":"Pediatr Int"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib56","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/j.jmoldx.2015.04.001","article-title":"A comprehensive strategy for accurate mutation detection of the highly homologous PMS2","volume":"17","author":"Li","year":"2015","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib57","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1186\/s12885-015-1224-y","article-title":"Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk","volume":"2","author":"Judkins","year":"2015","journal-title":"BMC Cancer"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib58","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/j.1399-0004.2010.01504.x","article-title":"Molecular analysis of 30 Niemann-Pick type C patients from Spain","volume":"80","author":"Mac\u00edas-Vidal","year":"2011","journal-title":"Clin Genet"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib59","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.ymgme.2016.08.007","article-title":"The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2\/B1 to a splicing silencer","volume":"119","author":"Palhais","year":"2016","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jmoldx.2017.05.005_bib60","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.jmoldx.2012.01.009","article-title":"Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy","volume":"14","author":"Valencia","year":"2012","journal-title":"J Mol Diagn"}],"container-title":["The Journal of Molecular Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157817301010?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157817301010?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T07:48:58Z","timestamp":1576223338000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525157817301010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":60,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["S1525157817301010"],"URL":"https:\/\/doi.org\/10.1016\/j.jmoldx.2017.05.005","relation":{},"ISSN":["1525-1578"],"issn-type":[{"value":"1525-1578","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"GBA Analysis in Next-Generation Era","name":"articletitle","label":"Article Title"},{"value":"The Journal of Molecular Diagnostics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jmoldx.2017.05.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}