{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T17:12:54Z","timestamp":1788455574268,"version":"build-2803163510"},"reference-count":73,"publisher":"eLife Sciences Publications, Ltd","license":[{"start":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["5T32GM142521"],"award-info":[{"award-number":["5T32GM142521"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"award":["5T32GM142521"],"award-info":[{"award-number":["5T32GM142521"]}],"id":[{"id":"https:\/\/ror.org\/01cwqze88","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["DE026798"],"award-info":[{"award-number":["DE026798"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"award":["DE026798"],"award-info":[{"award-number":["DE026798"]}],"id":[{"id":"https:\/\/ror.org\/01cwqze88","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"crossref","award":["LI19XX0"],"award-info":[{"award-number":["LI19XX0"]}],"id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"crossref"}]},{"award":["LI19XX0"],"award-info":[{"award-number":["LI19XX0"]}],"id":[{"id":"https:\/\/ror.org\/00ax59295","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["HL153165-01A1"],"award-info":[{"award-number":["HL153165-01A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"award":["HL153165-01A1"],"award-info":[{"award-number":["HL153165-01A1"]}],"id":[{"id":"https:\/\/ror.org\/01cwqze88","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["MH120513"],"award-info":[{"award-number":["MH120513"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"award":["MH120513"],"award-info":[{"award-number":["MH120513"]}],"id":[{"id":"https:\/\/ror.org\/01cwqze88","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"crossref","award":["RS-2024-00443043"],"award-info":[{"award-number":["RS-2024-00443043"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]},{"award":["RS-2024-00443043"],"award-info":[{"award-number":["RS-2024-00443043"]}],"id":[{"id":"https:\/\/ror.org\/013aysd81","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"crossref","award":["RS-2024-00349650"],"award-info":[{"award-number":["RS-2024-00349650"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]},{"award":["RS-2024-00349650"],"award-info":[{"award-number":["RS-2024-00349650"]}],"id":[{"id":"https:\/\/ror.org\/013aysd81","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007709","name":"Michigan State University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007709","id-type":"DOI","asserted-by":"crossref"}]},{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"crossref","award":["2026-ER0807-00"],"award-info":[{"award-number":["2026-ER0807-00"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"crossref"}]},{"award":["2026-ER0807-00"],"award-info":[{"award-number":["2026-ER0807-00"]}],"id":[{"id":"https:\/\/ror.org\/00qdsfq65","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"crossref","award":["2026-ER0602-00"],"award-info":[{"award-number":["2026-ER0602-00"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"crossref"}]},{"award":["2026-ER0602-00"],"award-info":[{"award-number":["2026-ER0602-00"]}],"id":[{"id":"https:\/\/ror.org\/00qdsfq65","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"crossref","award":["2024-ER0519-00"],"award-info":[{"award-number":["2024-ER0519-00"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"crossref"}]},{"award":["2024-ER0519-00"],"award-info":[{"award-number":["2024-ER0519-00"]}],"id":[{"id":"https:\/\/ror.org\/00qdsfq65","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"crossref","award":["2024-ER0703-00"],"award-info":[{"award-number":["2024-ER0703-00"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"crossref"}]},{"award":["2024-ER0703-00"],"award-info":[{"award-number":["2024-ER0703-00"]}],"id":[{"id":"https:\/\/ror.org\/00qdsfq65","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/100031864","name":"Corewell Health","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100031864","id-type":"DOI","asserted-by":"crossref"}]},{"id":[{"id":"https:\/\/ror.org\/02hb5yj49","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":["elifesciences.org"],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>\n                    Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments and neurobehavioral phenotypes, including autism and seizures. Limited studies and resources are available to make meaningful headway into the underlying molecular mechanisms that result in these symptoms. One such example is DeSanto-Shinawi Syndrome (DESSH), a rare disorder caused by pathogenic variants in the\n                    <jats:italic>WAC<\/jats:italic>\n                    gene. Individuals with DESSH syndrome exhibit a recognizable craniofacial gestalt, developmental delay\/intellectual disability, neurobehavioral symptoms that include autism, ADHD, behavioral difficulties, and seizures. However, no thorough studies from a vertebrate model exist to understand how these changes occur. To overcome this, we developed both murine and zebrafish\n                    <jats:italic>Wac\/wac<\/jats:italic>\n                    deletion mutants and studied whether their phenotypes recapitulate those described in individuals with DESSH syndrome. We first show that the two\n                    <jats:italic>Wac<\/jats:italic>\n                    models exhibit craniofacial and behavioral changes, reminiscent of abnormalities found in DESSH syndrome. In addition, each model revealed impacts on GABAergic neurons and further studies showed that the mouse mutants are susceptible to seizures, changes in brain volumes that are different between sexes and relevant behaviors. Finally, we uncovered transcriptional impacts of\n                    <jats:italic>Wac<\/jats:italic>\n                    loss-of-function in mice that will pave the way for future molecular studies into DESSH. These studies present two new vertebrate models that begin to uncover biological underpinnings of DESSH syndrome and elucidate the biology of\n                    <jats:italic>Wac<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.7554\/elife.109104","type":"journal-article","created":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T14:30:42Z","timestamp":1765549842000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.109104","source":"Crossref","is-referenced-by-count":0,"title":["Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome"],"prefix":"10.7554","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5369-1496","authenticated-orcid":true,"given":"Kang-Han","family":"Lee","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/0227as991","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Biology, Chungnam National University","place":["Daejeon, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"},{"role":"methodology","vocabulary":"credit"},{"role":"validation","vocabulary":"credit"},{"role":"writing-original-draft","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]},{"given":"April M","family":"Stafford","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University","place":["Grand Rapids, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"given":"Maria","family":"Pacheco-Vergara","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/0190ak572","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Molecular Pathology, New York University College of Dentistry","place":["New York, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5926-3663","authenticated-orcid":true,"given":"Karol","family":"Cichewicz","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Psychiatry and Behavioral Sciences, University of California Davis","place":["Davis, United States"]},{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neurobiology, Physiology and Behavior, University of California Davis","place":["Davis, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2505-8367","authenticated-orcid":true,"given":"Cesar P","family":"Canales","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Psychiatry and Behavioral Sciences, University of California Davis","place":["Davis, United States"]},{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neurobiology, Physiology and Behavior, University of California Davis","place":["Davis, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"given":"Nicolas","family":"Seban","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Psychiatry and Behavioral Sciences, University of California Davis","place":["Davis, United States"]},{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neurobiology, Physiology and Behavior, University of California Davis","place":["Davis, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"given":"Melissa","family":"Corea","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Psychiatry and Behavioral Sciences, University of California Davis","place":["Davis, United States"]},{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neurobiology, Physiology and Behavior, University of California Davis","place":["Davis, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"}]},{"given":"Darlene","family":"Rahbarian","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Psychiatry and Behavioral Sciences, University of California Davis","place":["Davis, United States"]},{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neurobiology, Physiology and Behavior, University of California Davis","place":["Davis, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"}]},{"given":"Kelly E","family":"Bonekamp","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Physiology, Michigan State University","place":["East Lansing, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"}]},{"given":"Grant R","family":"Gillie","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Physiology, Michigan State University","place":["East Lansing, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8010-7513","authenticated-orcid":true,"given":"Dariangelly","family":"Pacheco-Cruz","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University","place":["Grand Rapids, United States"]},{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Neuroscience Program, Michigan State University","place":["East Lansing, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"},{"role":"resources","vocabulary":"credit"}]},{"given":"Alyssa M","family":"Gill","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University","place":["Grand Rapids, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"}]},{"given":"Hye-Eun","family":"Hwang","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/0227as991","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Biology, Chungnam National University","place":["Daejeon, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"investigation","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0141-5131","authenticated-orcid":true,"given":"Yeong-Eun","family":"Kim","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/0227as991","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Biology, Chungnam National University","place":["Daejeon, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"}]},{"given":"Katie L","family":"Uhl","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University","place":["Grand Rapids, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"}]},{"given":"Tara E","family":"Jager","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02hb5yj49","id-type":"ROR","asserted-by":"publisher"}],"name":"Corewell Health","place":["Grand Rapids, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"data-curation","vocabulary":"credit"}]},{"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01yc7t268","id-type":"ROR","asserted-by":"publisher"}],"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine","place":["St. Louis, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"investigation","vocabulary":"credit"},{"role":"supervision","vocabulary":"credit"}]},{"given":"Xiaopeng","family":"Li","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University","place":["Grand Rapids, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"investigation","vocabulary":"credit"},{"role":"resources","vocabulary":"credit"},{"role":"supervision","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0081-6950","authenticated-orcid":true,"given":"Andre","family":"Obenaus","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/04gyf1771","id-type":"ROR","asserted-by":"publisher"}],"name":"Director, Preclinical and Translational Imaging Center, School of Medicine, University of California Irvine","place":["Irvine, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"software","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0611-3981","authenticated-orcid":true,"given":"Shane R","family":"Crandall","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Physiology, Michigan State University","place":["East Lansing, United States"]},{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Neuroscience Program, Michigan State University","place":["East Lansing, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"investigation","vocabulary":"credit"},{"role":"software","vocabulary":"credit"},{"role":"supervision","vocabulary":"credit"}]},{"given":"Juhee","family":"Jeong","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/0190ak572","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Molecular Pathology, New York University College of Dentistry","place":["New York, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"investigation","vocabulary":"credit"},{"role":"methodology","vocabulary":"credit"},{"role":"supervision","vocabulary":"credit"},{"role":"writing-original-draft","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4259-7514","authenticated-orcid":true,"given":"Alex S","family":"Nord","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Psychiatry and Behavioral Sciences, University of California Davis","place":["Davis, United States"]},{"id":[{"id":"https:\/\/ror.org\/05rrcem69","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neurobiology, Physiology and Behavior, University of California Davis","place":["Davis, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"investigation","vocabulary":"credit"},{"role":"resources","vocabulary":"credit"},{"role":"software","vocabulary":"credit"},{"role":"supervision","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3019-0699","authenticated-orcid":true,"given":"Cheol-Hee","family":"Kim","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/0227as991","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Biology, Chungnam National University","place":["Daejeon, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"corresponding-author","vocabulary":"crossref"},{"role":"conceptualization","vocabulary":"credit"},{"role":"methodology","vocabulary":"credit"},{"role":"resources","vocabulary":"credit"},{"role":"visualization","vocabulary":"credit"},{"role":"writing-original-draft","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1876-5936","authenticated-orcid":true,"given":"Daniel","family":"Vogt","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University","place":["Grand Rapids, United States"]},{"id":[{"id":"https:\/\/ror.org\/05hs6h993","id-type":"ROR","asserted-by":"publisher"}],"name":"Neuroscience Program, Michigan State University","place":["East Lansing, United States"]}],"role":[{"role":"author","vocabulary":"crossref"},{"role":"corresponding-author","vocabulary":"crossref"},{"role":"conceptualization","vocabulary":"credit"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"funding-acquisition","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"},{"role":"supervision","vocabulary":"credit"},{"role":"writing-original-draft","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]}],"member":"4374","published-online":{"date-parts":[[2026,9,3]]},"reference":[{"key":"bib1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-4-36","type":"journal-article","article-title":"SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)","volume":"4","author":"Abrahams","year":"2013","journal-title":"Molecular Autism"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"1671","DOI":"10.1038\/nprot.2006.275","type":"journal-article","article-title":"Two-day radial-arm water maze learning and memory task; robust resolution of amyloid-related memory deficits in transgenic mice","volume":"1","author":"Alamed","year":"2006","journal-title":"Nature Protocols"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.ejpn.2020.12.010","type":"journal-article","article-title":"Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants","volume":"30","author":"Alawadhi","year":"2021","journal-title":"European Journal of Paediatric Neurology"},{"key":"bib4","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/8820966","type":"journal-article","article-title":"A case of desanto-shinawi syndrome in bahrain with a novel mutation","volume":"2020","author":"Alsahlawi","year":"2020","journal-title":"Case Reports in Pediatrics"},{"key":"bib5","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1915458117","type":"journal-article","article-title":"Nf1 deletion results in depletion of the Lhx6 transcription factor and a specific loss of parvalbumin+ cortical interneurons","volume":"1","author":"Angara","year":"2020","journal-title":"PNAS"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1007\/s00335-012-9422-2","type":"journal-article","article-title":"The mammalian gene function resource: the international knockout mouse consortium","volume":"23","author":"Bradley","year":"2012","journal-title":"Mammalian Genome"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"1607","DOI":"10.1093\/med\/9780197549469.003.0078","type":"book-chapter","article-title":"Cell therapy for treatment of epilepsy","volume-title":"Jasper\u2019s Basic Mechanisms of the Epilepsies","author":"Br\u00f6er","year":"2024"},{"key":"bib8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1707663115","type":"journal-article","article-title":"Targeted knockout of a chemokine-like gene increases anxiety and fear responses","volume":"115","author":"Choi","year":"2018","journal-title":"PNAS"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1016\/j.neuron.2015.03.040","type":"journal-article","article-title":"A corticothalamic switch: controlling the thalamus with dynamic synapses","volume":"86","author":"Crandall","year":"2015","journal-title":"Neuron"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"3065","DOI":"10.1016\/j.celrep.2017.11.049","type":"journal-article","article-title":"Infrabarrels are layer 6 circuit modules in the barrel cortex that link long-range inputs and outputs","volume":"21","author":"Crandall","year":"2017","journal-title":"Cell Reports"},{"key":"bib11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0050140","type":"journal-article","article-title":"RUNX3, EGR1 and SOX9B form a regulatory cascade required to modulate BMP-signaling during cranial cartilage development in zebrafish","volume":"7","author":"Dalcq","year":"2012","journal-title":"PLOS ONE"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.devcel.2015.12.019","type":"journal-article","article-title":"WAC regulates mTOR activity by acting as an adaptor for the TTT and pontin\/reptin complexes","volume":"36","author":"David-Morrison","year":"2016","journal-title":"Developmental Cell"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1136\/jmedgenet-2015-103069","type":"journal-article","article-title":"WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome","volume":"52","author":"DeSanto","year":"2015","journal-title":"Journal of Medical Genetics"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","type":"journal-article","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"1320","DOI":"10.1038\/s41588-022-01104-0","type":"journal-article","article-title":"Rare coding variation provides insight into the genetic architecture and phenotypic context of autism","volume":"54","author":"Fu","year":"2022","journal-title":"Nature Genetics"},{"key":"bib16","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004772","type":"journal-article","article-title":"De novo mutations in moderate or severe intellectual disability","volume":"10","author":"Hamdan","year":"2014","journal-title":"PLOS Genetics"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1002\/ajmg.a.62571","type":"journal-article","article-title":"Extending the phenotype of desanto-shinawi syndrome: a case report and literature review","volume":"188","author":"Ho","year":"2022","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"2713","DOI":"10.1523\/JNEUROSCI.3035-17.2018","type":"journal-article","article-title":"Combinatorial effects of alpha- and gamma-protocadherins on neuronal survival and dendritic self-avoidance","volume":"38","author":"Ing-Esteves","year":"2018","journal-title":"The Journal of Neuroscience"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1038\/nature13908","type":"journal-article","article-title":"The contribution of de novo coding mutations to autism spectrum disorder","volume":"515","author":"Iossifov","year":"2014","journal-title":"Nature"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1126\/science.1225829","type":"journal-article","article-title":"A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity","volume":"337","author":"Jinek","year":"2012","journal-title":"Science"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1002\/jnr.24405","type":"journal-article","article-title":"Acute intranasal osteopontin treatment in male rats following TBI increases the number of activated microglia but does not alter lesion characteristics","volume":"98","author":"Jullienne","year":"2020","journal-title":"Journal of Neuroscience Research"},{"key":"bib22","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0168-2","type":"journal-article","article-title":"Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism","volume":"8","author":"Kim","year":"2017","journal-title":"Molecular Autism"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"1180","DOI":"10.1016\/j.neuron.2018.09.049","type":"journal-article","article-title":"Chd2 Is necessary for neural circuit development and long-term memory","volume":"100","author":"Kim","year":"2018","journal-title":"Neuron"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1002\/aja.1002030302","type":"journal-article","article-title":"Stages of embryonic development of the zebrafish","volume":"203","author":"Kimmel","year":"1995","journal-title":"Developmental Dynamics"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1007\/978-1-4939-8994-2_10","type":"journal-article","article-title":"The Y-maze for assessment of spatial working and reference memory in mice","volume":"1916","author":"Kraeuter","year":"2019","journal-title":"Methods in Molecular Biology"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1007\/978-1-4939-8994-2_4","type":"journal-article","article-title":"The elevated plus maze test for measuring anxiety-like behavior in rodents","volume":"1916","author":"Kraeuter","year":"2019","journal-title":"Methods in Molecular Biology"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1007\/978-1-4939-8994-2_9","type":"journal-article","article-title":"The open field test for measuring locomotor activity and anxiety-like behavior","volume":"1916","author":"Kraeuter","year":"2019","journal-title":"Methods in Molecular Biology"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/S0149-7634(01)00041-0","type":"journal-article","article-title":"The neurobiological basis of spontaneous alternation","volume":"26","author":"Lalonde","year":"2002","journal-title":"Neuroscience & Biobehavioral Reviews"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1111\/j.1541-0420.2010.01455.x","type":"journal-article","article-title":"Asymptotic conditional singular value decomposition for high-dimensional genomic data","volume":"67","author":"Leek","year":"2011","journal-title":"Biometrics"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"882","DOI":"10.1093\/bioinformatics\/bts034","type":"journal-article","article-title":"The sva package for removing batch effects and other unwanted variation in high-throughput experiments","volume":"28","author":"Leek","year":"2012","journal-title":"Bioinformatics"},{"key":"bib31","doi-asserted-by":"publisher","DOI":"10.3390\/genes11030344","type":"journal-article","article-title":"A novel WAC loss of function mutation in an individual presenting with encephalopathy related to status epilepticus during sleep (ESES)","volume":"11","author":"Leonardi","year":"2020","journal-title":"Genes"},{"key":"bib32","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1101\/SQB.1997.062.01.021","type":"journal-article","article-title":"Analysis of Fgf8 gene function in vertebrate development","volume":"62","author":"Lewandoski","year":"1997","journal-title":"Cold Spring Harbor Symposia on Quantitative Biology"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1093\/bioinformatics\/btt656","type":"journal-article","article-title":"featureCounts: an efficient general purpose program for assigning sequence reads to genomic features","volume":"30","author":"Liao","year":"2014","journal-title":"Bioinformatics"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1038\/ejhg.2015.282","type":"journal-article","article-title":"De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila","volume":"24","author":"Lugtenberg","year":"2016","journal-title":"European Journal of Human Genetics"},{"key":"bib35","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12962-4","type":"journal-article","article-title":"Tsc1 represses parvalbumin expression and fast-spiking properties in somatostatin lineage cortical interneurons","volume":"10","author":"Malik","year":"2019","journal-title":"Nature Communications"},{"key":"bib36","doi-asserted-by":"publisher","first-page":"1931","DOI":"10.1038\/emboj.2012.36","type":"journal-article","article-title":"Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC","volume":"31","author":"McKnight","year":"2012","journal-title":"The EMBO Journal"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1002\/ajmg.a.62648","type":"journal-article","article-title":"Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: evidence of pathogenicity for a novel splicing variant","volume":"188","author":"Morales","year":"2022","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"bib38","type":"software","article-title":"Lee_et.al._2024%2c_complimentary_vertebrate_wac_models_exhibit_phenotypes_relevant_to_desanto-shinawi_syndrome","volume-title":"Software Heritage","author":"NordNeurogenomicsLab","year":"2026","unstructured":"NordNeurogenomicsLab. 2026. Lee_et.al._2024%2c_complimentary_vertebrate_wac_models_exhibit_phenotypes_relevant_to_desanto-shinawi_syndrome. Software Heritage. swh:1:rev:93d28a15a5df195fef47ee85b213c9d00e829e9f. https:\/\/archive.softwareheritage.org\/swh:1:dir:f2770f1ec62a4b66d43e784f0cf6e38b7a34f916;origin=https:\/\/github.com\/NordNeurogenomicsLab\/Publications;visit=swh:1:snp:7024e288f9dbbba34dcb82817908acc96a6661b1;anchor=swh:1:rev:93d28a15a5df195fef47ee85b213c9d00e829e9f;path=\/Lee_et.al._2024%252C_Complimentary_vertebrate_Wac_models_exhibit_phenotypes_relevant_to_DeSanto-Shinawi_Syndrome\/."},{"key":"bib39","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.jgg.2019.01.004","type":"journal-article","article-title":"Targeted knockout of duox causes defects in zebrafish growth, thyroid development, and social interaction","volume":"46","author":"Park","year":"2019","journal-title":"Journal of Genetics and Genomics = Yi Chuan Xue Bao"},{"key":"bib40","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2021.109970","type":"journal-article","article-title":"Hippocampal gamma and sharp-wave ripple oscillations are altered in a Cntnap2 mouse model of autism spectrum disorder","volume":"37","author":"Paterno","year":"2021","journal-title":"Cell Reports"},{"key":"bib41","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1093\/cercor\/bhg132","type":"journal-article","article-title":"Parvalbumin expression in visual cortical interneurons depends on neuronal activity and TrkB ligands during an early period of postnatal development","volume":"14","author":"Patz","year":"2004","journal-title":"Cerebral Cortex"},{"key":"bib42","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/j.cell.2011.08.040","type":"journal-article","article-title":"Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits","volume":"147","author":"Pe\u00f1agarikano","year":"2011","journal-title":"Cell"},{"key":"bib43","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1038\/nmeth.1342","type":"journal-article","article-title":"Agouti C57BL\/6N embryonic stem cells for mouse genetic resources","volume":"6","author":"Pettitt","year":"2009","journal-title":"Nature Methods"},{"key":"bib44","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.44182","type":"journal-article","article-title":"Ventral hippocampal projections to the medial prefrontal cortex regulate social memory","volume":"8","author":"Phillips","year":"2019","journal-title":"eLife"},{"key":"bib45","doi-asserted-by":"publisher","first-page":"D845","DOI":"10.1093\/nar\/gkz1021","type":"journal-article","article-title":"The DisGeNET knowledge platform for disease genomics: 2019 update","volume":"48","author":"Pi\u00f1ero","year":"2020","journal-title":"Nucleic Acids Research"},{"key":"bib46","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1016\/j.taap.2013.11.006","type":"journal-article","article-title":"Developmental defects in zebrafish for classification of EGF pathway inhibitors","volume":"274","author":"Pruvot","year":"2014","journal-title":"Toxicology and Applied Pharmacology"},{"key":"bib47","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1016\/j.celrep.2018.06.087","type":"journal-article","article-title":"WAC promotes polo-like kinase 1 activation for timely mitotic entry","volume":"24","author":"Qi","year":"2018","journal-title":"Cell Reports"},{"key":"bib48","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1016\/j.neuroimage.2011.06.025","type":"journal-article","article-title":"Segmentation of the mouse hippocampal formation in magnetic resonance images","volume":"58","author":"Richards","year":"2011","journal-title":"NeuroImage"},{"key":"bib49","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","type":"journal-article","article-title":"edgeR: a Bioconductor package for differential expression analysis of digital gene expression data","volume":"26","author":"Robinson","year":"2010","journal-title":"Bioinformatics"},{"key":"bib50","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1034\/j.1601-183x.2003.00037.x","type":"journal-article","article-title":"Model of autism: increased ratio of excitation\/inhibition in key neural systems","volume":"2","author":"Rubenstein","year":"2003","journal-title":"Genes, Brain, and Behavior"},{"key":"bib51","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0077339","type":"journal-article","article-title":"PROX1: a lineage tracer for cortical interneurons originating in the lateral\/caudal ganglionic eminence and preoptic area","volume":"8","author":"Rubin","year":"2013","journal-title":"PLOS ONE"},{"key":"bib52","doi-asserted-by":"publisher","DOI":"10.3390\/biology12040589","type":"journal-article","article-title":"Structure-function of the human WAC protein in GABAergic neurons: towards an understanding of autosomal dominant DeSanto-Shinawi syndrome","volume":"12","author":"Rudolph","year":"2023","journal-title":"Biology"},{"key":"bib53","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1007\/s00335-013-9467-x","type":"journal-article","article-title":"Molecular characterization of mutant mouse strains generated from the EUCOMM\/KOMP-CSD ES cell resource","volume":"24","author":"Ryder","year":"2013","journal-title":"Mammalian Genome"},{"key":"bib54","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1038\/nature10163","type":"journal-article","article-title":"A conditional knockout resource for the genome-wide study of mouse gene function","volume":"474","author":"Skarnes","year":"2011","journal-title":"Nature"},{"key":"bib55","doi-asserted-by":"publisher","first-page":"1248","DOI":"10.1038\/s41380-019-0426-0","type":"journal-article","article-title":"Excitation-inhibition balance as a framework for investigating mechanisms in neuropsychiatric disorders","volume":"24","author":"Sohal","year":"2019","journal-title":"Molecular Psychiatry"},{"key":"bib56","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1038\/nprot.2007.514","type":"journal-article","article-title":"High-resolution in situ hybridization to whole-mount zebrafish embryos","volume":"3","author":"Thisse","year":"2008","journal-title":"Nature Protocols"},{"key":"bib57","doi-asserted-by":"publisher","first-page":"1335","DOI":"10.1002\/ajmg.a.38703","type":"journal-article","article-title":"Three patients with DeSanto-Shinawi syndrome: further phenotypic delineation","volume":"176","author":"Uehara","year":"2018","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"bib58","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/j.neuroimage.2013.04.008","type":"journal-article","article-title":"A segmentation protocol and MRI atlas of the C57BL\/6J mouse neocortex","volume":"78","author":"Ullmann","year":"2013","journal-title":"NeuroImage"},{"key":"bib59","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1159\/000488815","type":"journal-article","article-title":"DeSanto-Shinawi syndrome: first case in South America","volume":"9","author":"Vanegas","year":"2018","journal-title":"Molecular Syndromology"},{"key":"bib60","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-023-36585-y","type":"journal-article","article-title":"RNA splicing analysis using heterogeneous and large RNA-seq datasets","volume":"14","author":"Vaquero-Garcia","year":"2023","journal-title":"Nature Communications"},{"key":"bib61","doi-asserted-by":"publisher","first-page":"1725","DOI":"10.1016\/j.neurobiolaging.2009.09.002","type":"journal-article","article-title":"Abnormal neuronal networks and seizure susceptibility in mice overexpressing the APP intracellular domain","volume":"32","author":"Vogt","year":"2011","journal-title":"Neurobiology of Aging"},{"key":"bib62","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1016\/j.neuron.2014.02.030","type":"journal-article","article-title":"Lhx6 directly regulates arx and CXCR7 to determine cortical interneuron fate and laminar position","volume":"82","author":"Vogt","year":"2014","journal-title":"Neuron"},{"key":"bib63","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1016\/j.celrep.2015.04.019","type":"journal-article","article-title":"The parvalbumin\/somatostatin ratio is increased in PTEN mutant mice and by human PTEN ASD alleles","volume":"PMID","author":"Vogt","year":"2015","journal-title":"Cell Reports"},{"key":"bib64","doi-asserted-by":"publisher","first-page":"3868","DOI":"10.1093\/cercor\/bhx248","type":"journal-article","article-title":"Mouse CNTNAP2 and human CNTNAP2 ASD alleles cell autonomously regulate PV+ cortical interneurons","volume":"28","author":"Vogt","year":"2018","journal-title":"Cerebral Cortex"},{"key":"bib65","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1016\/j.cell.2013.06.022","type":"journal-article","article-title":"Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes","volume":"154","author":"White","year":"2013","journal-title":"Cell"},{"key":"bib66","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-24277-4","type":"book","volume-title":"Ggplot2","author":"Wickham","year":"2016"},{"key":"bib67","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2015.19","type":"journal-article","article-title":"Lack of parvalbumin in mice leads to behavioral deficits relevant to all human autism core symptoms and related neural morphofunctional abnormalities","volume":"5","author":"W\u00f6hr","year":"2015","journal-title":"Translational Psychiatry"},{"key":"bib68","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1038\/nrn1954","type":"journal-article","article-title":"The origin and specification of cortical interneurons","volume":"7","author":"Wonders","year":"2006","journal-title":"Nature Reviews. Neuroscience"},{"key":"bib69","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1006\/geno.2001.6684","type":"journal-article","article-title":"WAC, a novel WW domain-containing adapter with a coiled-coil region, is colocalized with splicing factor SC35","volume":"79","author":"Xu","year":"2002","journal-title":"Genomics"},{"key":"bib70","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1016\/j.ydbio.2010.08.010","type":"journal-article","article-title":"Jagged1 functions downstream of Twist1 in the specification of the coronal suture and the formation of a boundary between osteogenic and non-osteogenic cells","volume":"347","author":"Yen","year":"2010","journal-title":"Developmental Biology"},{"key":"bib71","doi-asserted-by":"publisher","DOI":"10.1002\/advs.202511472","type":"journal-article","article-title":"Transplantation of GABAergic interneuron progenitors restores cortical circuit function in an Alzheimer\u2019s disease mouse model","volume":"13","author":"Yokomizo","year":"2026","journal-title":"Advanced Science"},{"key":"bib72","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1016\/j.neuroimage.2006.01.015","type":"journal-article","article-title":"User-guided 3D active contour segmentation of anatomical structures: significantly improved efficiency and reliability","volume":"31","author":"Yushkevich","year":"2006","journal-title":"NeuroImage"},{"key":"bib73","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1016\/j.molcel.2011.01.024","type":"journal-article","article-title":"WAC, a functional partner of RNF20\/40, regulates histone H2B ubiquitination and gene transcription","volume":"41","author":"Zhang","year":"2011","journal-title":"Molecular Cell"}],"container-title":["eLife"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/cdn.elifesciences.org\/articles\/109104\/elife-109104-v1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/cdn.elifesciences.org\/articles\/109104\/elife-109104-v1.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/elifesciences.org\/articles\/109104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T16:14:40Z","timestamp":1788452080000},"score":1,"resource":{"primary":{"URL":"https:\/\/elifesciences.org\/articles\/109104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,3]]},"references-count":73,"alternative-id":["10.7554\/eLife.109104"],"URL":"https:\/\/doi.org\/10.7554\/elife.109104","archive":["CLOCKSS"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.05.26.595966","asserted-by":"subject"}],"is-same-as":[{"id-type":"doi","id":"10.7554\/eLife.109104.3","asserted-by":"subject"}],"is-version-of":[{"id-type":"doi","id":"10.7554\/eLife.109104.1","asserted-by":"subject"},{"id-type":"doi","id":"10.7554\/eLife.109104.2","asserted-by":"subject"}],"is-supplemented-by":[{"id-type":"uri","id":"https:\/\/archive.softwareheritage.org\/swh:1:dir:f2770f1ec62a4b66d43e784f0cf6e38b7a34f916;origin=https:\/\/github.com\/NordNeurogenomicsLab\/Publications;visit=swh:1:snp:7024e288f9dbbba34dcb82817908acc96a6661b1;anchor=swh:1:rev:93d28a15a5df195fef47ee85b213c9d00e829e9f;path=\/Lee_et.al._2024%252C_Complimentary_vertebrate_Wac_models_exhibit_phenotypes_relevant_to_DeSanto-Shinawi_Syndrome\/","asserted-by":"subject"}]},"ISSN":["2050-084X"],"issn-type":[{"value":"2050-084X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,3]]},"assertion":[{"value":"single anonymised","name":"peer_review_transparency","label":"Peer review transparency","group":{"name":"peer_review_taxonomy"}},{"value":"other reviewer(s), editor","name":"peer_review_interaction","label":"Peer review interaction","group":{"name":"peer_review_taxonomy"}},{"value":"review summaries, review reports, author\/editor communication, reviewer identities reviewer opt in, editor identities","name":"peer_review_published","label":"Peer review published","group":{"name":"peer_review_taxonomy"}},{"value":"open (sign in with ORCID iD required)","name":"post_publication_commenting","label":"Post publication commenting","group":{"name":"post_publication_commenting"}}],"article-number":"RP109104"}}