{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T14:32:03Z","timestamp":1781879523997,"version":"3.54.5"},"reference-count":33,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006108","name":"Brain Gene Registry through the National Center for Advancing Translational Sciences (NCATS)","doi-asserted-by":"publisher","award":["U01TR002764"],"award-info":[{"award-number":["U01TR002764"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"Brain Gene Registry through the National Center for Advancing Translational Sciences (NCATS)","doi-asserted-by":"publisher","award":["P50HD103573"],"award-info":[{"award-number":["P50HD103573"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"Brain Gene Registry through the National Center for Advancing Translational Sciences (NCATS)","doi-asserted-by":"publisher","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Institute of Child Health and Human Development (NICHD)","award":["U01TR002764"],"award-info":[{"award-number":["U01TR002764"]}]},{"name":"National Institute of Child Health and Human Development (NICHD)","award":["P50HD103573"],"award-info":[{"award-number":["P50HD103573"]}]},{"name":"National Institute of Child Health and Human Development (NICHD)","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute Clinical","doi-asserted-by":"publisher","award":["U01TR002764"],"award-info":[{"award-number":["U01TR002764"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute Clinical","doi-asserted-by":"publisher","award":["P50HD103573"],"award-info":[{"award-number":["P50HD103573"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute Clinical","doi-asserted-by":"publisher","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, seizures, congenital anomalies, and other skeletal, muscular, and sleep differences. Here, we review previously published individuals with pathogenic ASH1L variants and report three further probands with novel ASH1L variants and previously unreported phenotypic features, including mixed receptive language disorder and gait disturbances. These novel data from the Brain Gene Registry, an accessible repository of clinically derived genotypic and phenotypic data, have allowed for the expansion of the phenotypic and genotypic spectrum of this condition.<\/jats:p>","DOI":"10.3390\/genes15040423","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T12:52:12Z","timestamp":1711630332000},"page":"423","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1136-3202","authenticated-orcid":false,"given":"Ineke","family":"Cordova","sequence":"first","affiliation":[{"name":"Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8954-9387","authenticated-orcid":false,"given":"Alyssa","family":"Blesson","sequence":"additional","affiliation":[{"name":"Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliann M.","family":"Savatt","sequence":"additional","affiliation":[{"name":"Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Sveden","sequence":"additional","affiliation":[{"name":"Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s Hospital, Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonal","family":"Mahida","sequence":"additional","affiliation":[{"name":"Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s Hospital, Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Hazlett","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of North Carolina Intellectual and Developmental Disability Research Center, Chapel Hill, NC 27510, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Rooney Riggs","sequence":"additional","affiliation":[{"name":"Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Chopra","sequence":"additional","affiliation":[{"name":"Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s Hospital, Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"8369","DOI":"10.1074\/jbc.M110.203380","article-title":"Crystal Structure of the Human Histone Methyltransferase ASH1L Catalytic Domain and Its Implications for the Regulatory Mechanism","volume":"286","author":"An","year":"2011","journal-title":"J. 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