{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:10Z","timestamp":1772160070294,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T00:00:00Z","timestamp":1636934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007605","name":"Aarhus Universitet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007605","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The YTH domain family member 3 gene (\n                    <jats:italic>YTHDF3<\/jats:italic>\n                    ) encodes a reader of the abundant N6\u2010methyladenosine (m\n                    <jats:sup>6<\/jats:sup>\n                    A) modification of eukaryotic mRNA, which plays an essential role in regulating mRNA stability and is necessary to achieve normal development of the central nervous system in animal models.\n                    <jats:italic>YTHDF3<\/jats:italic>\n                    has not previously been implicated in Mendelian disease despite a high probability of loss of function intolerance and statistical evidence of enrichment for gene\u2010disruptive de novo variants in large\u2010scale studies of individuals with intellectual disability and\/or developmental delay. We report four individuals with deletion of 8q12.3, deletion size 1.38\u20132.60\u2009Mb, encompassing YTHDF3, three of them were de novo, and in one case, the inheritance was unknown. Common features of the individuals (age range, 4\u201322\u2009years) were developmental delay and\/or intellectual disability. Two individuals underwent squint surgery. We suggest that haploinsufficiency of\n                    <jats:italic>YTHDF3<\/jats:italic>\n                    causes a neurodevelopmental disorder with developmental delay and intellectual disability of variable degree.\n                  <\/jats:p>","DOI":"10.1111\/cge.14083","type":"journal-article","created":{"date-parts":[[2021,10,28]],"date-time":"2021-10-28T04:36:41Z","timestamp":1635395801000},"page":"208-213","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Mono\u2010allelic loss of\n                    <scp>\n                      <i>YTHDF3<\/i>\n                    <\/scp>\n                    and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2435-1043","authenticated-orcid":false,"given":"Thorkild","family":"Terkelsen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Brasch\u2010Andersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Human Genetics, Department of Clinical Research University of Southern Denmark  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Illum","sequence":"additional","affiliation":[{"name":"H. C. Andersen Children's Hospital, Odense University Hospital  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiffany","family":"Busa","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale CHU de Marseille\u2010H\u00f4pital de la Timone  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"Missirian","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale CHU de Marseille\u2010H\u00f4pital de la Timone  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kate","family":"Chandler","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St Mary's Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon T.","family":"Holden","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Addenbrooke's Hospital  Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uffe Birk","family":"Jensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5206-4327","authenticated-orcid":false,"given":"Christina R.","family":"Fagerberg","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Affiliated Member of European Reference Network, ERN\u2010ITHACA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,11,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.71.10.3971"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.4161\/rna.28829"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2017.10.001"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2015.05.014"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12730"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2017.15"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2017.10"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2020.05.012"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.340695.120"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2020.555372"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.2196\/16204"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.79.5.706"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0288-4"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12367"},{"issue":"22","key":"e_1_2_9_19_1","first-page":"3936","article-title":"Fragile 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