{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T05:41:05Z","timestamp":1672378865862},"reference-count":23,"publisher":"Hindawi Limited","issue":"3","license":[{"start":{"date-parts":[[2017,1,13]],"date-time":"2017-01-13T00:00:00Z","timestamp":1484265600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2017,1,13]],"date-time":"2017-01-13T00:00:00Z","timestamp":1484265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Interdisziplin\u00e4res Zentrum f\u00fcr Klinische Forschung Jena"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1002\/humu.23162","type":"journal-article","created":{"date-parts":[[2016,12,24]],"date-time":"2016-12-24T20:58:06Z","timestamp":1482613086000},"page":"275-278","source":"Crossref","is-referenced-by-count":1,"title":["Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions"],"prefix":"10.1155","volume":"38","author":[{"given":"Amir","family":"Jahic","sequence":"first","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine; Jena University Hospital; Jena Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Hinreiner","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; University of Regensburg; Regensburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Werner","family":"Emberger","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Graz Medical University; Graz Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ute","family":"Hehr","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; University of Regensburg; Regensburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine; University of Miami; Miami Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Beetz","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine; Jena University Hospital; Jena Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2017,1,13]]},"reference":[{"key":"10.1002\/humu.23162-BIB0001|humu23162-cit-0001","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/nrg1895","article-title":"Primate segmental duplications: crucibles of evolution, diversity and disease","volume":"7","author":"Bailey","year":"2006","journal-title":"Nat Rev Genet"},{"key":"10.1002\/humu.23162-BIB0002|humu23162-cit-0002","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1212\/01.wnl.0000244413.49258.f5","article-title":"High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia","volume":"67","author":"Beetz","year":"2006","journal-title":"Neurology"},{"key":"10.1002\/humu.23162-BIB0003|humu23162-cit-0003","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1097\/GIM.0b013e3182106775","article-title":"Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia","volume":"13","author":"Boone","year":"2011","journal-title":"Genet Med"},{"key":"10.1002\/humu.23162-BIB0004|humu23162-cit-0004","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ajhg.2014.06.014","article-title":"The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles","volume":"95","author":"Boone","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.23162-BIB0005|humu23162-cit-0005","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS recommendations for the description of sequence variants: 2016 update","volume":"37","author":"den Dunnen","year":"2016","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.23162-BIB0006|humu23162-cit-0006","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2006.046425","article-title":"Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia","volume":"44","author":"Depienne","year":"2007","journal-title":"J Med Genet"},{"key":"10.1002\/humu.23162-BIB0007|humu23162-cit-0007","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s00401-013-1115-8","article-title":"Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms","volume":"126","author":"Fink","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1002\/humu.23162-BIB0008|humu23162-cit-0008","doi-asserted-by":"crossref","first-page":"4061","DOI":"10.1093\/hmg\/ddv146","article-title":"Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3","volume":"24","author":"Gu","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.23162-BIB0009|humu23162-cit-0009","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/15472","article-title":"Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia","volume":"23","author":"Hazan","year":"1999","journal-title":"Nat Genet"},{"key":"10.1002\/humu.23162-BIB0010|humu23162-cit-0010","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.gene.2016.05.040","article-title":"Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool","volume":"590","author":"Hentschel","year":"2016","journal-title":"Gene"},{"key":"10.1002\/humu.23162-BIB0011|humu23162-cit-0011","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1146\/annurev.genom.3.032802.120023","article-title":"Molecular mechanisms for genomic disorders","volume":"3","author":"Inoue","year":"2002","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"10.1002\/humu.23162-BIB0012|humu23162-cit-0012","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1038\/ejhg.2016.20","article-title":"A polymorphic Alu insertion that mediates distinct disease-associated deletions","volume":"24","author":"Jahic","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.23162-BIB0013|humu23162-cit-0013","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial sequencing and analysis of the human genome","volume":"409","author":"Lander","year":"2001","journal-title":"Nature"},{"key":"10.1002\/humu.23162-BIB0014|humu23162-cit-0014","doi-asserted-by":"crossref","first-page":"e1005016","DOI":"10.1371\/journal.pgen.1005016","article-title":"The contribution of alu elements to mutagenic DNA double-strand break repair","volume":"11","author":"Morales","year":"2015","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.23162-BIB0015|humu23162-cit-0015","doi-asserted-by":"crossref","first-page":"e1000469","DOI":"10.1371\/journal.pgen.1000469","article-title":"Repair-mediated duplication by capture of proximal chromosomal DNA has shaped vertebrate genome evolution","volume":"5","author":"Pace","year":"2009","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.23162-BIB0016|humu23162-cit-0016","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1086\/301827","article-title":"Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients","volume":"62","author":"Reiter","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.23162-BIB0017|humu23162-cit-0017","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1093\/nar\/gnf056","article-title":"Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification","volume":"30","author":"Schouten","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.23162-BIB0018|humu23162-cit-0018","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1177\/0022034514523786","article-title":"Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfecta","volume":"93","author":"Seymen","year":"2014","journal-title":"J Dent Res"},{"key":"10.1002\/humu.23162-BIB0019|humu23162-cit-0019","doi-asserted-by":"crossref","first-page":"e1002236","DOI":"10.1371\/journal.pgen.1002236","article-title":"A comprehensive map of mobile element insertion polymorphisms in humans","volume":"7","author":"Stewart","year":"2011","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.23162-BIB0020|humu23162-cit-0020","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1016\/j.gde.2005.09.008","article-title":"Short, local duplications in eukaryotic genomes","volume":"15","author":"Thomas","year":"2005","journal-title":"Curr Opin Genet Dev"},{"key":"10.1002\/humu.23162-BIB0021|humu23162-cit-0021","doi-asserted-by":"crossref","first-page":"10349","DOI":"10.1073\/pnas.0403727101","article-title":"Distribution of short paired duplications in mammalian genomes","volume":"101","author":"Thomas","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.23162-BIB0022|humu23162-cit-0022","doi-asserted-by":"crossref","first-page":"5350","DOI":"10.1128\/MCB.8.12.5350","article-title":"Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology","volume":"8","author":"Waldman","year":"1988","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.23162-BIB0023|humu23162-cit-0023","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1038\/ng.399","article-title":"The DNA replication FoSTeS\/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans","volume":"41","author":"Zhang","year":"2009","journal-title":"Nat Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23162","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.23162","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:02Z","timestamp":1672332902000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,13]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23162","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1,13]]}}}