{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T03:53:49Z","timestamp":1791863629283,"version":"4.3.4"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2019,2,18]],"date-time":"2019-02-18T00:00:00Z","timestamp":1550448000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"King Salman Center for Disability Research"},{"name":"Saudi Human Genome Program"},{"name":"NIH","award":["GM052347"],"award-info":[{"award-number":["GM052347"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.1007\/s00439-019-01980-3","type":"journal-article","created":{"date-parts":[[2019,2,18]],"date-time":"2019-02-18T12:53:18Z","timestamp":1550494398000},"page":"231-239","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":88,"title":["PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly"],"prefix":"10.1007","volume":"138","author":[{"given":"Ranad","family":"Shaheen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Tasak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sateesh","family":"Maddirevula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada M. H.","family":"Abdel-Salam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inas S. M.","family":"Sayed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anas M.","family":"Alazami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarfa","family":"Al-Sheddi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eman","family":"Alobeid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric M.","family":"Phizicky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,2,18]]},"reference":[{"issue":"7","key":"1980_CR1","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1136\/jmedgenet-2012-101378","volume":"50","author":"AM Alazami","year":"2013","unstructured":"Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS (2013) Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. J Med Genet 50(7):425\u2013430","journal-title":"J Med Genet"},{"key":"1980_CR2","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1007\/s00439-013-1344-x","volume":"132","author":"FS Alkuraya","year":"2013","unstructured":"Alkuraya FS (2013) The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet 132:1197\u20131211","journal-title":"Hum Genet"},{"key":"1980_CR3","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1007\/s13238-011-1087-1","volume":"2","author":"TY Andrew","year":"2011","unstructured":"Andrew TY, Ge J, Yu Y-T (2011) Pseudouridines in spliceosomal snRNAs. Protein Cell 2:712\u2013725","journal-title":"Protein Cell"},{"key":"1980_CR5","doi-asserted-by":"publisher","first-page":"9754","DOI":"10.1021\/bi00088a030","volume":"32","author":"A Bakin","year":"1993","unstructured":"Bakin A, Ofengand J (1993) Four newly located pseudouridylate residues in Escherichia coli 23S ribosomal RNA are all at the peptidyltransferase center: analysis by the application of a new sequencing technique. Biochemistry 32:9754\u20139762","journal-title":"Biochemistry"},{"key":"1980_CR6","doi-asserted-by":"publisher","first-page":"1371","DOI":"10.1261\/rna.5520403","volume":"9","author":"I Behm-Ansmant","year":"2003","unstructured":"Behm-Ansmant I, Urban A, Ma X, Yu Y-T, Motorin Y, Branlant C (2003) The Saccharomyces cerevisiae U2 snRNA: pseudouridine-synthase Pus7p is a novel multisite\u2013multisubstrate RNA: \u03a8-synthase also acting on tRNAs. RNA 9:1371\u20131382","journal-title":"RNA"},{"issue":"18","key":"1980_CR7","doi-asserted-by":"publisher","first-page":"2020","DOI":"10.15252\/embj.201489282","volume":"33","author":"S Blanco","year":"2014","unstructured":"Blanco S, Dietmann S, Flores JV, Hussain S, Kutter C, Humphreys P, Lukk M, Lombard P, Treps L, Popis M, Kellner S, Holter SM, Garrett L, Wurst W, Becker L, Klopstock T, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Karadottir RT, Helm M, Ule J, Gleeson JG, Odom DT, Frye M (2014) Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders. EMBO J\u00a033(18):2020\u20132039","journal-title":"EMBO J"},{"key":"1980_CR8","doi-asserted-by":"publisher","first-page":"D303","DOI":"10.1093\/nar\/gkx1030","volume":"46","author":"P Boccaletto","year":"2017","unstructured":"Boccaletto P, Machnicka MA, Purta E, Pi\u0105tkowski P, Bagi\u0144ski B, Wirecki TK, de Cr\u00e9cy-Lagard V, Ross R, Limbach PA, Kotter A (2017) MODOMICS: a database of RNA modification pathways. 2017 update. Nucleic Acids Res 46:D303\u2013D307","journal-title":"Nucleic Acids Res"},{"key":"1980_CR9","doi-asserted-by":"publisher","first-page":"4303","DOI":"10.1093\/nar\/9.17.4303","volume":"9","author":"C Branlant","year":"1981","unstructured":"Branlant C, Krol A, Machatt MA, Pouyet J, Ebel J-P, Edwards K, K\u00f6ssel H (1981) Primary and secondary structures of Escherichia coli MRE 600 23S ribosomal RNA. Comparison with models of secondary structure for maize chloroplast 23S rRNA and for large portions of mouse and human 16S mitochondrial rRNAs. Nucleic Acids Res 9:4303\u20134324","journal-title":"Nucleic Acids Res"},{"key":"1980_CR10","doi-asserted-by":"publisher","first-page":"D195","DOI":"10.1093\/nar\/gkq1028","volume":"39","author":"WA Cantara","year":"2011","unstructured":"Cantara WA, Crain PF, Rozenski J, McCloskey JA, Harris KA, Zhang X, Vendeix FA, Fabris D, Agris PF (2011) The RNA modification database, RNAMDB: 2011 update. Nucleic Acids Res 39:D195\u2013D201","journal-title":"Nucleic Acids Res"},{"key":"1980_CR11","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1038\/nature13802","volume":"515","author":"TM Carlile","year":"2014","unstructured":"Carlile TM, Rojas-Duran MF, Zinshteyn B, Shin H, Bartoli KM, Gilbert WV (2014) Pseudouridine profiling reveals regulated mRNA pseudouridylation in yeast and human cells. Nature 515:143","journal-title":"Nature"},{"key":"1980_CR12","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1080\/152165400410182","volume":"49","author":"M Charette","year":"2000","unstructured":"Charette M, Gray MW (2000) Pseudouridine in RNA: what, where, how, and why. IUBMB Life 49:341\u2013351","journal-title":"IUBMB Life"},{"key":"1980_CR13","doi-asserted-by":"publisher","first-page":"1369","DOI":"10.1101\/gad.1654308","volume":"22","author":"I Chernyakov","year":"2008","unstructured":"Chernyakov I, Whipple JM, Kotelawala L, Grayhack EJ, Phizicky EM (2008) Degradation of several hypomodified mature tRNA species in Saccharomyces cerevisiae is mediated by Met22 and the 5\u2032\u20133\u2032 exonucleases Rat1 and Xrn1. Genes Dev 22:1369\u20131380","journal-title":"Genes Dev"},{"key":"1980_CR14","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1016\/0006-3002(59)90644-4","volume":"32","author":"WE Cohn","year":"1959","unstructured":"Cohn WE (1959) 5-Ribosyl uracil, a carbon-carbon ribofuranosyl nucleoside in ribonucleic acids. Biochim Biophys Acta 32:569\u2013571","journal-title":"Biochim Biophys Acta"},{"key":"1980_CR15","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1038\/167483a0","volume":"167","author":"WE Cohn","year":"1951","unstructured":"Cohn WE, Volkin E (1951) Nucleoside-5\u2032-phosphates from ribonucleic acid. Nature 167:483","journal-title":"Nature"},{"key":"1980_CR16","doi-asserted-by":"publisher","first-page":"5020","DOI":"10.1093\/nar\/23.24.5020","volume":"23","author":"DR Davis","year":"1995","unstructured":"Davis DR (1995) Stabilization of RNA stacking by pseudouridine. Nucleic Acids Res 23:5020\u20135026","journal-title":"Nucleic Acids Res"},{"key":"1980_CR17","doi-asserted-by":"publisher","first-page":"1045","DOI":"10.1016\/j.ajhg.2018.10.026","volume":"103","author":"APM Brouwer de","year":"2018","unstructured":"de Brouwer APM, Abou Jamra R, Kortel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S (2018) Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior. Am J Hum Genet 103:1045\u20131052","journal-title":"Am J Hum Genet"},{"key":"1980_CR18","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1080\/15476286.2015.1031947","volume":"12","author":"L Endres","year":"2015","unstructured":"Endres L, Dedon PC, Begley TJ (2015) Codon-biased translation can be regulated by wobble-base tRNA modification systems during cellular stress responses. RNA Biol 12:603\u2013614","journal-title":"RNA Biol"},{"issue":"2","key":"1980_CR19","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1111\/cge.12280","volume":"86","author":"S Fahiminiya","year":"2013","unstructured":"Fahiminiya S, Almuriekhi M, Nawaz Z, Staffa A, Lepage P, Ali R, Hashim L, Schwartzentruber J, Abu Khadija K, Zaineddin S, Gamal H, Majewski J, Ben-Omran T (2013) Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. Clin Genet\u00a086(2):134\u2013141","journal-title":"Clin Genet"},{"key":"1980_CR20","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1136\/jmg.2006.045252","volume":"44","author":"E Fernandez-Vizarra","year":"2007","unstructured":"Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (2007) Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet 44:173\u2013180","journal-title":"J Med Genet"},{"key":"1980_CR21","doi-asserted-by":"publisher","first-page":"1146","DOI":"10.1126\/science.286.5442.1146","volume":"286","author":"AP Gerber","year":"1999","unstructured":"Gerber AP, Keller W (1999) An adenosine deaminase that generates inosine at the wobble position of tRNAs. Science 286:1146\u20131149","journal-title":"Science"},{"key":"1980_CR22","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1136\/jmedgenet-2014-102282","volume":"51","author":"D Gillis","year":"2014","unstructured":"Gillis D, Krishnamohan A, Yaacov B, Shaag A, Jackman JE, Elpeleg O (2014) TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly. J Med Genet 51:581\u2013586","journal-title":"J Med Genet"},{"key":"1980_CR23","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/0300-9084(96)88117-X","volume":"77","author":"H Grosjean","year":"1995","unstructured":"Grosjean H, Sprinzl M, Steinberg S (1995) Posttranscriptionally modified nucleosides in transfer RNA: their locations and frequencies. Biochimie 77:139\u2013141","journal-title":"Biochimie"},{"key":"1980_CR24","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1080\/15476286.2016.1203504","volume":"13","author":"TP Hoernes","year":"2016","unstructured":"Hoernes TP, H\u00fcttenhofer A, Erlacher MD (2016) mRNA modifications: Dynamic regulators of gene expression? RNA Biol 13:760\u2013765","journal-title":"RNA Biol"},{"key":"1980_CR25","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/j.ymeth.2016.02.003","volume":"103","author":"C Huang","year":"2016","unstructured":"Huang C, Karijolich J, Yu Y-T (2016) Detection and quantification of RNA 2\u2032-O-methylation and pseudouridylation. Methods 103:68\u201376","journal-title":"Methods"},{"key":"1980_CR26","doi-asserted-by":"publisher","first-page":"e1003888","DOI":"10.1371\/journal.pgen.1003888","volume":"9","author":"M Igoillo-Esteve","year":"2013","unstructured":"Igoillo-Esteve M, Genin A, Lambert N, Desir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M (2013) tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. PLoS Genet 9:e1003888","journal-title":"PLoS Genet"},{"key":"1980_CR27","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1002\/wrna.1144","volume":"4","author":"JE Jackman","year":"2013","unstructured":"Jackman JE, Alfonzo JD (2013) Transfer RNA modifications: nature\u2019s combinatorial chemistry playground. Wiley Interdiscip Rev RNA 4:35\u201348","journal-title":"Wiley Interdiscip Rev RNA"},{"key":"1980_CR28","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1261\/rna.5070303","volume":"9","author":"JE Jackman","year":"2003","unstructured":"Jackman JE, Montange RK, Malik HS, Phizicky EM (2003) Identification of the yeast gene encoding the tRNA m1G methyltransferase responsible for modification at position 9. RNA 9:574\u2013585","journal-title":"RNA"},{"key":"1980_CR29","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1016\/j.tig.2017.12.007","volume":"34","author":"M Kapur","year":"2018","unstructured":"Kapur M, Ackerman SL (2018) mRNA translation gone awry: translation fidelity and neurological disease. Trends Genet 34:218\u2013231","journal-title":"Trends Genet"},{"key":"1980_CR30","doi-asserted-by":"publisher","first-page":"18107","DOI":"10.1074\/jbc.C400072200","volume":"279","author":"Y Kaya","year":"2004","unstructured":"Kaya Y, Del Campo M, Ofengand J, Malhotra A (2004) Crystal structure of TruD, a novel pseudouridine synthase with a new protein fold. J Biol Chem 279:18107\u201318110","journal-title":"J Biol Chem"},{"key":"1980_CR31","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/nrg3861","volume":"16","author":"S Kirchner","year":"2015","unstructured":"Kirchner S, Ignatova Z (2015) Emerging roles of tRNA in adaptive translation, signalling dynamics and disease. Nat Rev Genet 16:98","journal-title":"Nat Rev Genet"},{"key":"1980_CR32","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1038\/nchembio.1836","volume":"11","author":"X Li","year":"2015","unstructured":"Li X, Zhu P, Ma S, Song J, Bai J, Sun F, Yi C (2015) Chemical pulldown reveals dynamic pseudouridylation of the mammalian transcriptome. Nat Chem Biol 11:592","journal-title":"Nat Chem Biol"},{"key":"1980_CR33","doi-asserted-by":"publisher","first-page":"e110799","DOI":"10.1371\/journal.pone.0110799","volume":"9","author":"AF Lovejoy","year":"2014","unstructured":"Lovejoy AF, Riordan DP, Brown PO (2014) Transcriptome-wide mapping of pseudouridines: pseudouridine synthases modify specific mRNAs in S. cerevisiae. PLoS One 9:e110799","journal-title":"PLoS One"},{"key":"1980_CR34","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1136\/jmedgenet-2011-100686","volume":"49","author":"FJ Martinez","year":"2012","unstructured":"Martinez FJ, Lee JH, Lee JE, Blanco S, Nickerson E, Gabriel S, Frye M, Al-Gazali L, Gleeson JG (2012) Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet 49:380\u2013385","journal-title":"J Med Genet"},{"key":"1980_CR35","doi-asserted-by":"publisher","first-page":"4934","DOI":"10.1021\/bi100408z","volume":"49","author":"Y Motorin","year":"2010","unstructured":"Motorin Y, Helm M (2010) tRNA stabilization by modified nucleotides. Biochemistry 49:4934\u20134944","journal-title":"Biochemistry"},{"key":"1980_CR36","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagrm.2018.11.007","author":"J Ramos","year":"2018","unstructured":"Ramos J, Fu D (2018) The emerging impact of tRNA modifications in the brain and nervous system. Biochim Biophys Acta Gene Regul Mech. \n                    https:\/\/doi.org\/10.1016\/j.bbagrm.2018.11.007","journal-title":"Biochim Biophys Acta Gene Regul Mech"},{"key":"1980_CR37","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1261\/rna.2210406","volume":"12","author":"P Schattner","year":"2006","unstructured":"Schattner P, Barberan-Soler S, Lowe TM (2006) A computational screen for mammalian pseudouridylation guide H\/ACA RNAs. RNA 12:15\u201325","journal-title":"RNA"},{"key":"1980_CR38","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.cell.2014.08.028","volume":"159","author":"S Schwartz","year":"2014","unstructured":"Schwartz S, Bernstein DA, Mumbach MR, Jovanovic M, Herbst RH, Le\u00f3n-Ricardo BX, Engreitz JM, Guttman M, Satija R, Lander ES (2014) Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA. Cell 159:148\u2013162","journal-title":"Cell"},{"key":"1980_CR39","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1186\/s13059-015-0779-x","volume":"16","author":"R Shaheen","year":"2015","unstructured":"Shaheen R, Abdel-Salam GM, Guy MP, Alomar R, Abdel-Hamid MS, Afifi HH, Ismail SI, Emam BA, Phizicky EM, Alkuraya FS (2015) Mutation in WDR4 impairs tRNA m 7 G 46 methylation and causes a distinct form of microcephalic primordial dwarfism. Genome Biol 16:210","journal-title":"Genome Biol"},{"key":"1980_CR40","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1007\/s00439-016-1665-7","volume":"135","author":"R Shaheen","year":"2016","unstructured":"Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS (2016) A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. Hum Genet 135:707\u2013713","journal-title":"Hum Genet"},{"key":"1980_CR46","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/0076-6879(91)94004-V","volume":"194","author":"F Sherman","year":"1991","unstructured":"Sherman F (1991) Getting started with yeast. Methods Enzymol 194:3\u201321","journal-title":"Methods Enzymol"},{"key":"1980_CR41","doi-asserted-by":"publisher","first-page":"1540","DOI":"10.4161\/15476286.2014.992278","volume":"11","author":"F Spenkuch","year":"2014","unstructured":"Spenkuch F, Motorin Y, Helm M (2014) Pseudouridine: still mysterious, but never a fake (uridine)! RNA Biol 11:1540\u20131554","journal-title":"RNA Biol"},{"key":"1980_CR43","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1038\/s41580-018-0034-x","volume":"19","author":"S Tahmasebi","year":"2018","unstructured":"Tahmasebi S, Khoutorsky A, Mathews MB, Sonenberg N (2018) Translation deregulation in human disease. Nat Rev Mol Cell Biol 19:791\u2013807","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1980_CR44","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1016\/j.molmed.2014.01.008","volume":"20","author":"AG Torres","year":"2014","unstructured":"Torres AG, Batlle E, de Pouplana LR (2014) Role of tRNA modifications in human diseases. Trends Mol Med 20:306\u2013314","journal-title":"Trends Mol Med"},{"key":"1980_CR45","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1038\/nrm.2016.132","volume":"18","author":"BS Zhao","year":"2017","unstructured":"Zhao BS, Roundtree IA, He C (2017) Post-transcriptional gene regulation by mRNA modifications. Nat Rev Mol Cell Biol 18:31","journal-title":"Nat Rev Mol Cell Biol"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-019-01980-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-019-01980-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-019-01980-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T11:11:19Z","timestamp":1582024279000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-019-01980-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,18]]},"references-count":44,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["1980"],"URL":"https:\/\/doi.org\/10.1007\/s00439-019-01980-3","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,18]]},"assertion":[{"value":"31 December 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 February 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 February 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"Authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}