{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T04:00:03Z","timestamp":1790913603987,"version":"4.1.0"},"reference-count":69,"publisher":"National Academy of Sciences","issue":"19","license":[{"start":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T00:00:00Z","timestamp":1620000000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["1R35GM131687"],"award-info":[{"award-number":["1R35GM131687"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["T32GM007223"],"award-info":[{"award-number":["T32GM007223"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. 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Our results define an underlying pathology of ANE syndrome, further delineating an emerging class of assembly factor ribosomopathies and underscoring the importance of nucleolar processes in human health.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2017777118","type":"journal-article","created":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T16:53:02Z","timestamp":1620060782000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":22,"title":["Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome"],"prefix":"10.1073","volume":"118","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7475-875X","authenticated-orcid":false,"given":"Carson J.","family":"Bryant","sequence":"first","affiliation":[{"name":"Department of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT 06520;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4653-3051","authenticated-orcid":false,"given":"Cl\u00e1udia F.","family":"Lorea","sequence":"additional","affiliation":[{"name":"Children\u2019s Care Unit of the Teaching Hospital, Federal University of Pelotas, CEP 96030-000, Pelotas\u2013Rio Grande do Sul, Brazil;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0705-1778","authenticated-orcid":false,"suffix":"Jr","given":"Hiram Larangeira","family":"de Almeida","sequence":"additional","affiliation":[{"name":"Dermatology Department, Federal University of Pelotas, CEP 96030-000, Pelotas\u2013Rio Grande do Sul, Brazil;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2215-4743","authenticated-orcid":false,"given":"Let\u00edcia","family":"Weinert","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Federal University of Pelotas, CEP 96030-000, Pelotas\u2013Rio Grande do Sul, Brazil;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6682-5070","authenticated-orcid":false,"given":"Leonardo","family":"Vedolin","sequence":"additional","affiliation":[{"name":"Diagn\u00f3sticos da Am\u00e9rica, S\u00e3o Paulo - 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