{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T14:31:04Z","timestamp":1789655464104,"version":"4.0.1"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T00:00:00Z","timestamp":1487721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"crossref","award":["GM118647"],"award-info":[{"award-number":["GM118647"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:p>\n                    Recently, bi\u2010allelic mutations in cytosolic isoleucyl\u2010\n                    <jats:styled-content style=\"fixed-case\">tRNA<\/jats:styled-content>\n                    synthetase (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">IARS<\/jats:styled-content>\n                    <\/jats:italic>\n                    ) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole\u2010exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology. Furthermore, we provide functional data on two novel missense substitutions and expand the phenotype to include mild developmental delay, skin hyper\u2010elasticity, and hypervitaminosis D.\n                  <\/jats:p>","DOI":"10.1111\/cge.12930","type":"journal-article","created":{"date-parts":[[2016,11,28]],"date-time":"2016-11-28T00:32:50Z","timestamp":1480293170000},"page":"913-917","source":"Crossref","is-referenced-by-count":29,"title":["Bi\u2010allelic\n                    <i>\n                      <scp>IARS<\/scp>\n                    <\/i>\n                    mutations in a child with intra\u2010uterine growth retardation, neonatal cholestasis, and mild developmental delay"],"prefix":"10.1111","volume":"91","author":[{"given":"N.","family":"Orenstein","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Schneider Children Medical Center of Israel  Petah Tikva Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Weiss","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.N.","family":"Oprescu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Michigan Medical School  Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Shapira","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Kidron","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Department of Pathology Meir Hospital  Kfar Saba Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Vanagaite\u2010Basel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Schneider Children Medical Center of Israel  Petah Tikva Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Raphael Recanati Genetics Institute Rabin Medical Center  Petah Tikva Israel"},{"name":"Felsenstein Medical Research Center Rabin Medical Center  Petah Tikvay Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Antonellis","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Michigan Medical School  Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Muenke","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.56.070187.001013"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.201100626"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2956"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2013.02.002"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/375039"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1727"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22210"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.01.010"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.027"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22283"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/asj.12639"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.285.5430.1074"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109089200"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12930","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12930","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T03:07:17Z","timestamp":1696302437000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12930"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,22]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1111\/cge.12930"],"URL":"https:\/\/doi.org\/10.1111\/cge.12930","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,22]]}}}