{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T23:02:59Z","timestamp":1791241379185,"version":"4.1.0"},"reference-count":73,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T00:00:00Z","timestamp":1657238400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Nationwide Foundation Pediatric Innovation Fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations. Here, we use a human cerebral organoid model to investigate the pathophysiology of a heterozygous de novo missense AUTS2 variant identified in a patient with multiple neurological impairments including primary microcephaly and profound intellectual disability.<\/jats:p>\n                  <jats:p>Proband cerebral organoids exhibit reduced growth, deficits in neural progenitor cell (NPC) proliferation and disrupted NPC polarity within ventricular zone-like regions compared to control cerebral organoids. We used CRISPR-Cas9-mediated gene editing to correct this variant and demonstrate rescue of impaired organoid growth and NPC proliferative deficits. Single-cell RNA sequencing revealed a marked reduction of G1\/S transition gene expression and alterations in WNT-\u03b2-catenin signalling within proband NPCs, uncovering a novel role for AUTS2 in NPCs during human cortical development.<\/jats:p>\n                  <jats:p>Collectively, these results underscore the value of cerebral organoids to investigate molecular mechanisms underlying AUTS2 syndrome.<\/jats:p>","DOI":"10.1093\/brain\/awac244","type":"journal-article","created":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T10:27:19Z","timestamp":1657276039000},"page":"387-404","source":"Crossref","is-referenced-by-count":55,"title":["Cerebral organoids containing an\n                    <i>AUTS2<\/i>\n                    missense variant model microcephaly"],"prefix":"10.1093","volume":"146","author":[{"given":"Summer R","family":"Fair","sequence":"first","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wesley","family":"Schwind","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic L","family":"Julian","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5159-3385","authenticated-orcid":false,"given":"Alecia","family":"Biel","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gongbo","family":"Guo","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Rutherford","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swetha","family":"Ramadesikan","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesse","family":"Westfall","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine E","family":"Miller","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meisam Naeimi","family":"Kararoudi","sequence":"additional","affiliation":[{"name":"Center for Childhood Cancer and Blood Diseases, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"},{"name":"Department of Pediatrics, The Ohio State University College of Medicine , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott E","family":"Hickey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Ohio State University College of Medicine , Columbus, OH , USA"},{"name":"Division of Genetic and Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa Mihalic","family":"Mosher","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim L","family":"McBride","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Ohio State University College of Medicine , Columbus, OH , USA"},{"name":"Division of Genetic and Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"},{"name":"Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reid","family":"Neinast","sequence":"additional","affiliation":[{"name":"Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Fitch","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dean A","family":"Lee","sequence":"additional","affiliation":[{"name":"Center for Childhood Cancer and Blood Diseases, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"},{"name":"Department of Pediatrics, The Ohio State University College of Medicine , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5218-5903","authenticated-orcid":false,"given":"Peter","family":"White","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"},{"name":"Department of Pediatrics, The Ohio State University College of Medicine , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard K","family":"Wilson","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"},{"name":"Department of Pediatrics, The Ohio State University College of Medicine , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8683-0192","authenticated-orcid":false,"given":"Tracy A","family":"Bedrosian","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"},{"name":"Department of Pediatrics, The Ohio State University College of Medicine , Columbus, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel C","family":"Koboldt","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital , Columbus, OH , USA"},{"name":"Department of Pediatrics, The Ohio State University College of Medicine , Columbus, OH , 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