{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T14:58:20Z","timestamp":1789916300137,"version":"4.0.1"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T00:00:00Z","timestamp":1664409600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    De novo truncating and splicing pathogenic variants in the Additional Sex Combs\u2010Like 3 (\n                    <jats:italic>ASXL3<\/jats:italic>\n                    ) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features. We previously reported 45 patients with\n                    <jats:italic>ASXL3<\/jats:italic>\n                    \u2010related disorder including three individuals with a familial variant. Here we report the detailed clinical and molecular characteristics of these three families with inherited\n                    <jats:italic>ASXL3<\/jats:italic>\n                    \u2010related disorder. First, a father and son with c.2791_2792del p.Gln931fs pathogenic variant. The second, a mother, daughter and son with c.4534C\u2009&gt;\u2009T, p.Gln1512Ter pathogenic variant. The third, a mother and her daughter with c.4441dup, p.Leu1481fs maternally inherited pathogenic variant. This report demonstrates intrafamilial phenotypic heterogeneity and confirms heritability of\n                    <jats:italic>ASXL3<\/jats:italic>\n                    \u2010related disorder.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62981","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T02:59:26Z","timestamp":1664506766000},"page":"29-36","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Familial\n                    <scp>Bainbridge\u2010Ropers<\/scp>\n                    syndrome: Report of familial\n                    <scp>\n                      <i>ASXL3<\/i>\n                    <\/scp>\n                    inheritance and a milder phenotype"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9602-4063","authenticated-orcid":false,"given":"Schaida","family":"Schirwani","sequence":"first","affiliation":[{"name":"Department of Oncology &amp; Metabolism University of Sheffield  Sheffield UK"},{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2349-2688","authenticated-orcid":false,"given":"Emily","family":"Woods","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Koolen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center  Nijmegen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte W.","family":"Ockeloen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center  Nijmegen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's Health Ireland  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Kavanagh","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's Health Ireland  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4297-1078","authenticated-orcid":false,"suffix":"Jr","given":"John M.","family":"Graham","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Cedars\u2010Sinai Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katheryn","family":"Grand","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Cedars\u2010Sinai Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler Mark","family":"Pierson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cedars\u2010Sinai Medical Center  Los Angeles California USA"},{"name":"Department of Neurology Cedars\u2010Sinai Medical Center  Los Angeles California USA"},{"name":"Cedars\u2010Sinai Center for the Undiagnosed Patient Cedars\u2010Sinai Medical Center  Los Angeles California USA"},{"name":"Board of Governors Regenerative Medicine Institute Cedars\u2010Sinai Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey M.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Neurology Cedars\u2010Sinai Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1488-3695","authenticated-orcid":false,"given":"Meena","family":"Balasubramanian","sequence":"additional","affiliation":[{"name":"Department of Oncology &amp; Metabolism University of Sheffield  Sheffield UK"},{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm415"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104360"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-6-32"},{"key":"e_1_2_6_5_1","unstructured":"Ellard S. Baple E.L. CallawayA. Berry I. Forrester N. Turnbull C. Owens M. Eccles D.M. Abbs S. Scott R. Deans Z.C. Lester T. Campbell J. Newman W.G.ACGS Best Practice Guidelines for Variant Classification in Rare Disease2020.https:\/\/www.acgs.uk.com\/media\/11631\/uk-practice-guidelines-for-variant-classification-v4-01-2020.pdf"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0741-5214(91)90011-I"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62465"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61705-0"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62981","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62981","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62981","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T05:58:40Z","timestamp":1692424720000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62981"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,29]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1002\/ajmg.a.62981"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62981","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,29]]},"assertion":[{"value":"2022-06-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}