{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T15:15:01Z","timestamp":1790781301112,"version":"4.1.0"},"reference-count":32,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular and Cellular Probes"],"published-print":{"date-parts":[[2015,10]]},"DOI":"10.1016\/j.mcp.2015.05.012","type":"journal-article","created":{"date-parts":[[2015,6,5]],"date-time":"2015-06-05T19:31:19Z","timestamp":1433532679000},"page":"323-329","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline"],"prefix":"10.1016","volume":"29","author":[{"given":"M.","family":"Granzow","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7126-8472","authenticated-orcid":false,"given":"N.","family":"Paramasivam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Hinderhofer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Chotewutmontri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Kaufmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Evers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Kotzaeridou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Rohrschneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Schlesner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Sturm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Pinkert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Eils","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.R.","family":"Bartram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Moog","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mcp.2015.05.012_bib1","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.mcp.2015.05.012_bib2","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/nature13127","article-title":"Guidelines for investigating causality of sequence variants in human disease","volume":"508","author":"MacArthur","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.mcp.2015.05.012_bib3","doi-asserted-by":"crossref","first-page":"e1004320","DOI":"10.1371\/journal.pgen.1004320","article-title":"Null mutation in PGAP1 impairing GPI-anchor maturation in patients with intellectual disability and encephalopathy","volume":"10","author":"Murakami","year":"2014","journal-title":"PLoS Genet."},{"key":"10.1016\/j.mcp.2015.05.012_bib4","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1016\/j.bbalip.2012.01.004","article-title":"GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics","volume":"1821","author":"Fujita","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.mcp.2015.05.012_bib5","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1038\/ejhg.2013.241","article-title":"Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome","volume":"22","author":"Horn","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.mcp.2015.05.012_bib6","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.ajhg.2013.12.012","article-title":"Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation","volume":"94","author":"Howard","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mcp.2015.05.012_bib7","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A\u00a0simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.mcp.2015.05.012_bib8","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/0003-2697(87)90021-2","article-title":"Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction","volume":"162","author":"Chomczynski","year":"1987","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.mcp.2015.05.012_bib9","doi-asserted-by":"crossref","first-page":"2123","DOI":"10.1093\/bioinformatics\/bti264","article-title":"ALOHOMORA: a tool for linkage analysis using 10K SNP array data","volume":"21","author":"Ruschendorf","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.mcp.2015.05.012_bib10","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","article-title":"Merlin\u2013rapid analysis of dense genetic maps using sparse gene flow trees","volume":"30","author":"Abecasis","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mcp.2015.05.012_bib11","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1126\/science.1247363","article-title":"Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders","volume":"343","author":"Novarino","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.mcp.2015.05.012_bib12","doi-asserted-by":"crossref","first-page":"6318","DOI":"10.1074\/jbc.M111.331090","article-title":"Mechanism for release of alkaline phosphatase caused by Glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome","volume":"287","author":"Murakami","year":"2012","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.mcp.2015.05.012_bib13","doi-asserted-by":"crossref","first-page":"14256","DOI":"10.1074\/jbc.M313755200","article-title":"Inositol seacylation of Glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p","volume":"279","author":"Tanaka","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.mcp.2015.05.012_bib14","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.mcp.2015.05.012_bib15","unstructured":"http:\/\/broadinstitute.github.io\/picard\/."},{"key":"10.1016\/j.mcp.2015.05.012_bib16","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.mcp.2015.05.012_bib17","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1038\/ng.3036","article-title":"Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications","volume":"46","author":"Rimmer","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mcp.2015.05.012_bib18","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.mcp.2015.05.012_bib19","unstructured":"http:\/\/www.gencodegenes.org\/releases\/17.html."},{"key":"10.1016\/j.mcp.2015.05.012_bib20","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A\u00a0method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.mcp.2015.05.012_bib21","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"10.1016\/j.mcp.2015.05.012_bib22","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.mcp.2015.05.012_bib23","doi-asserted-by":"crossref","first-page":"e46688","DOI":"10.1371\/journal.pone.0046688","article-title":"Predicting the functional effect of amino acid substitutions and indels","volume":"7","author":"Choi","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.mcp.2015.05.012_bib24","doi-asserted-by":"crossref","first-page":"e1003709","DOI":"10.1371\/journal.pgen.1003709","article-title":"Genic intolerance to functional variation and the interpretation of personal genomes","volume":"9","author":"Petrovski","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.mcp.2015.05.012_bib25","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1101\/gr.111120.110","article-title":"Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads","volume":"21","author":"Lunter","year":"2011","journal-title":"Genome Res."},{"key":"10.1016\/j.mcp.2015.05.012_bib26","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":"Altshuler","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.mcp.2015.05.012_bib27","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1093\/bioinformatics\/bti042","article-title":"Genome-wide midrange transcription profiles reveal expression level relationships in human tissue specification","volume":"21","author":"Yanai","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.mcp.2015.05.012_bib28","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/j.crvi.2003.09.012","article-title":"GeneNote: whole genome expression profiles in normal human tissues","volume":"326","author":"Shmueli","year":"2003","journal-title":"Comptes. Rendus Biol."},{"key":"10.1016\/j.mcp.2015.05.012_bib29","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1093\/nar\/gkg050","article-title":"Human gene-Centric databases at the Weizmann Institute of Science: GeneCards, UDB, CroW 21 and HORDE","volume":"31","author":"Safran","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mcp.2015.05.012_bib30","article-title":"Expression Atlas update \u2013 a database of gene and transcript expression from microarray and sequencing-based functional genomics experiments","author":"Petryszak","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mcp.2015.05.012_bib31","doi-asserted-by":"crossref","first-page":"D1077","DOI":"10.1093\/nar\/gkr913","article-title":"Gene Expression Atlas update \u2013 a value-added database of microarray and sequencing-based functional genomics experiments","volume":"40","author":"Kapushesky","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mcp.2015.05.012_bib32","series-title":"The NCBI Handbook","article-title":"UniGene: a unified view of the transcriptome","author":"Pontius","year":"2003"}],"container-title":["Molecular and Cellular Probes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0890850815300086?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0890850815300086?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,21]],"date-time":"2018-09-21T23:25:39Z","timestamp":1537572339000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0890850815300086"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10]]},"references-count":32,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["S0890850815300086"],"URL":"https:\/\/doi.org\/10.1016\/j.mcp.2015.05.012","relation":{},"ISSN":["0890-8508"],"issn-type":[{"value":"0890-8508","type":"print"}],"subject":[],"published":{"date-parts":[[2015,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline","name":"articletitle","label":"Article Title"},{"value":"Molecular and Cellular Probes","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mcp.2015.05.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}