{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T22:05:07Z","timestamp":1792533907622,"version":"4.5.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>SUPT16H encodes a subunit of the FACT (FAcilitates Chromatin Transcription) complex, a histone chaperone essential for maintaining chromatin integrity during transcription, replication, and DNA repair. Pathogenic de novo SUPT16H missense variants have previously been linked to neurodevelopmental disorders in eight individuals. Here, we expand the genotypic and phenotypic spectrum by identifying 24 additional individuals harboring ultrarare heterozygous missense or truncating variants, who share overlapping clinical features including intellectual disability, autism spectrum disorder, hypotonia, and characteristic craniofacial dysmorphism. To elucidate the underlying mechanisms, we generated a supt16h knockout zebrafish model using CRISPR\/Cas9. The supt16h loss-of-function (LOF) model recapitulated key patient phenotypes such as developmental delay, craniofacial anomalies, and hypotonia. Structural and functional analyses of selected SUPT16H variants demonstrated differential rescue of developmental defects in supt16h-deficient embryos, indicating variant-specific LOF effects in vivo. The presence of non-neural manifestations, including facial and ear anomalies, suggested a role for SUPT16H in neural crest development. Consistently, supt16h loss impaired neural crest cell migration and differentiation and triggered p53-dependent apoptosis in the central nervous system (CNS) and neural crest\u2013derived pharyngeal arches. Notably, supt16h deficiency impaired oligodendrocyte specification in the CNS and perturbed differentiation of neural crest\u2013derived Schwann cells in the peripheral nervous system, providing a plausible basis for hypotonia. These findings uncover a previously unrecognized role of SUPT16H in neural crest development, linking chromatin regulation to neural crest-derived lineage specification and differentiation, thereby defining SUPT16H deficiency as a neurocristopathy that broadens the clinical and mechanistic landscape of SUPT16H-associated disorders.<\/jats:p>","DOI":"10.1093\/hmg\/ddag003","type":"journal-article","created":{"date-parts":[[2026,1,11]],"date-time":"2026-01-11T12:32:44Z","timestamp":1768134764000},"source":"Crossref","is-referenced-by-count":2,"title":["SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum"],"prefix":"10.1093","volume":"35","author":[{"given":"Eunhye","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Biomedical Science, Kangwon National University , Chuncheon 24341 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seungmin","family":"Sim","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, Kangwon National University , Chuncheon 24341 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1167-1526","authenticated-orcid":false,"given":"Hee-Jung","family":"Choi","sequence":"additional","affiliation":[{"name":"School of Biological Sciences, Seoul National University , Seoul 08826 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugene Y","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California , San Francisco, CA 94158 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn","family":"Le","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California , San Francisco, CA 94158 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roya","family":"Bina","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California , San Francisco, CA 94158 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Cohen","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California , San Francisco, CA 94158 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"George","sequence":"additional","affiliation":[{"name":"Department of Radiology and Biomedical Imaging, University of California , San Francisco, CA 94143 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo Yeon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine, Seoul National University Hospital , Seoul 03080 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gifty","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Illinois Chicago , Chicago, IL 60607 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Falsey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Illinois Chicago , Chicago, IL 60607 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Sidlow","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Metabolism, Valley Children\u2019s Hospital , Madera, CA 93636 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Clinard","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill , Chapel Hill, NC 27599 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shay","family":"Ben-Shachar","sequence":"additional","affiliation":[{"name":"Clalit Research Institute , Ramat Gan,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleina","family":"England","sequence":"additional","affiliation":[{"name":"Clalit Research Institute , Ramat Gan,","place":["Israel"]},{"name":"Gray Faculty of Medical & Health Sciences, Tel-Aviv University , Tel-Aviv 69978, Isreal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Menendez","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Illinois Chicago , Chicago, IL 60612 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Herman","sequence":"additional","affiliation":[{"name":"Boys Town National Research Hospital , Boys Town, NE 68010 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelly","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center , Omaha, NE 68106 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaya","family":"Punetha","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg, MD 20877 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya","family":"Bhola","sequence":"additional","affiliation":[{"name":"Department of Genetics, Children's Hospital of Eastern Ontario , Ottawa, ON, K1H 8L1 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J Austin","family":"Hamm","sequence":"additional","affiliation":[{"name":"Genetic Center, East Tennessee Children's Hospital, \u00a0 Knoxville, TN 37916 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan A","family":"Keeney","sequence":"additional","affiliation":[{"name":"Genetic Center, East Tennessee Children's Hospital, \u00a0 Knoxville, TN 37916 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nike","family":"Sitzman","sequence":"additional","affiliation":[{"name":"Nicklaus Children\u2019s Hospital , Miami, FL 33155 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Berger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lakshmi","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison J","family":"Conn","sequence":"additional","affiliation":[{"name":"Rush University Medical Center , Chicago, IL 60612 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian","family":"Downie","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Service, Murdoch Children's Research Institute , Parkville, VIC 3052 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myla","family":"Ashfaq","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The University of Texas Health Science Center at Houston , Houston, TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hope","family":"Northrup","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The University of Texas Health Science Center at Houston , Houston, TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ange-Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9nomique M\u00e9dicale, Centre Neomics, Inserm UMR1231 \u00e9quipe GAD, Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne , Dijon ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0635-5940","authenticated-orcid":false,"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence Maladies Rares CLAD-Ouest , ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin O","family":"Szot","sequence":"additional","affiliation":[{"name":"Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital , Randwick, NSW 2031 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noelia Nunez","family":"Martinez","sequence":"additional","affiliation":[{"name":"Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital , Randwick, NSW 2031 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunju","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Molecular Bioscience, Kangwon National University , Chuncheon 24341 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Refkin","sequence":"additional","affiliation":[{"name":"University of Vermont , Burlington, VT 05401 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marc","family":"Good","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne , Lausanne 1011 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Maurer","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne , Lausanne 1011 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9dric","family":"Le Caignec","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne , Lausanne 1011 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Coman","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine, Queensland Children's Hospital , South Brisbane QLD 4101 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Anderson","sequence":"additional","affiliation":[{"name":"Wesley Research Institute, The Wesley Hospital , Auchenflower QLD 4066 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda J","family":"Richards","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Washington University in St. Louis , St Louis, MO 63110 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan J","family":"Dean","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Washington University in St. Louis , St Louis, MO 63110 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caleb","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California , San Francisco, CA 94158 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chulwon","family":"Choi","sequence":"additional","affiliation":[{"name":"School of Biological Sciences, Seoul National University , Seoul 08826 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung Joon","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Molecular Bioscience, Kangwon National University , Chuncheon 24341 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin Sook","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital , Seoul 03080 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B","family":"Dobyns","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Minnesota , Minneapolis, MN 55454 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9195-1455","authenticated-orcid":false,"given":"Murim","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Seoul National University College of Medicine , Seoul 03080 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elliott H","family":"Sherr","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California , San Francisco, CA 94158 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9162-0138","authenticated-orcid":false,"given":"Jong-Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children\u2019s Hospital , Seoul 03080 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2764-1468","authenticated-orcid":false,"given":"Yun","family":"Kee","sequence":"additional","affiliation":[{"name":"Division of Biomedical Convergence, Kangwon National University , Chuncheon 24341 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6575-7501","authenticated-orcid":false,"given":"Emanuela","family":"Argilli","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California , San Francisco, CA 94158 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"2026051101415960400_ref1","doi-asserted-by":"crossref","first-page":"783","DOI":"10.18632\/oncotarget.340","article-title":"Expression of FACT in mammalian tissues suggests its role in maintaining of undifferentiated state of cells","volume":"2","author":"Garcia","year":"2011","journal-title":"Oncotarget"},{"key":"2026051101415960400_ref2","doi-asserted-by":"crossref","first-page":"108994","DOI":"10.1016\/j.celrep.2021.108994","article-title":"Dual targeting of the epigenome via FACT complex and histone deacetylase is a potent treatment strategy for DIPG","volume":"35","author":"Ehteda","year":"2021","journal-title":"Cell Rep"},{"key":"2026051101415960400_ref3","doi-asserted-by":"crossref","first-page":"20525","DOI":"10.18632\/oncotarget.15656","article-title":"Level of FACT defines the transcriptional landscape and aggressive phenotype of breast cancer cells","volume":"8","author":"Fleyshman","year":"2017","journal-title":"Oncotarget"},{"key":"2026051101415960400_ref4","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1136\/jmedgenet-2019-106193","article-title":"De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities","volume":"57","author":"Bina","year":"2020","journal-title":"J Med Genet"},{"key":"2026051101415960400_ref5","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1093\/hmg\/ddac259","article-title":"The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival","volume":"32","author":"Ma","year":"2023","journal-title":"Hum Mol Genet"},{"key":"2026051101415960400_ref6","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1097\/MCD.0000000000000497","article-title":"A new case of SUPT16H-associated syndromic neurodevelopmental delay","volume":"33","author":"Balakrishnan","year":"2024","journal-title":"Clin Dysmorphol"},{"key":"2026051101415960400_ref7","doi-asserted-by":"crossref","first-page":"e70057","DOI":"10.1111\/ped.70057","article-title":"A Japanese boy with SUPT16H-related neurodevelopmental disorder and congenital heart defects","volume":"67","author":"Nishikiori","year":"2025","journal-title":"Pediatr Int"},{"key":"2026051101415960400_ref8","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1038\/nature13908","article-title":"The contribution of de novo coding mutations to autism spectrum disorder","volume":"515","author":"Iossifov","year":"2014","journal-title":"Nature"},{"key":"2026051101415960400_ref9","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1093\/hmg\/ddac240","article-title":"Supt16 haploinsufficiency causes neurodevelopment disorder by disrupting MAPK pathway in neural stem cells","volume":"32","author":"Wang","year":"2023","journal-title":"Hum Mol Genet"},{"key":"2026051101415960400_ref10","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.1038\/s41556-020-00604-7","article-title":"Haematopoietic stem cell-dependent notch transcription is mediated by p53 through the histone chaperone Supt16h","volume":"22","author":"Espanola","year":"2020","journal-title":"Nat Cell Biol"},{"key":"2026051101415960400_ref11","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1038\/s41583-021-00503-2","article-title":"Riding the crest to get a head: neural crest evolution in vertebrates","volume":"22","author":"Martik","year":"2021","journal-title":"Nat Rev Neurosci"},{"key":"2026051101415960400_ref12","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/bdrc.21074","article-title":"Neural crest cells: from developmental biology to clinical interventions. Birth defects res","volume":"102","author":"Noisa","year":"2014","journal-title":"Part C Embryo Today"},{"key":"2026051101415960400_ref13","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1002\/humu.22858","article-title":"The matchmaker exchange: a platform for rare disease gene discovery","volume":"36","author":"Philippakis","year":"2015","journal-title":"Hum Mutat"},{"key":"2026051101415960400_ref14","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources","volume":"84","author":"Firth","year":"2009","journal-title":"Am J Hum Genet"},{"key":"2026051101415960400_ref15","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s13073-022-01042-w","article-title":"Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants","volume":"14","author":"Hamanaka","year":"2022","journal-title":"Genome Med"},{"key":"2026051101415960400_ref16","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.bbagrm.2018.07.008","article-title":"Structure and function of the histone chaperone FACT-resolving FACTual issues","volume":"1861","author":"Gurova","year":"2018","journal-title":"Biochim Biophys Acta Gene Regul Mech"},{"key":"2026051101415960400_ref17","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1038\/s41586-019-1820-0","article-title":"FACT caught in the act of manipulating the nucleosome","volume":"577","author":"Liu","year":"2020","journal-title":"Nature"},{"key":"2026051101415960400_ref18","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1101\/gad.274183.115","article-title":"Integrated molecular mechanism directing nucleosome reorganization by human FACT","volume":"30","author":"Tsunaka","year":"2016","journal-title":"Genes Dev"},{"key":"2026051101415960400_ref19","first-page":"121","article-title":"Structure of the human histone chaperone FACT Spt16 N-terminal domain. Acta Crystallogr","volume":"72","author":"Marciano","year":"2016","journal-title":"Sect F: Struct Biol Commun"},{"key":"2026051101415960400_ref20","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.ydbio.2011.12.042","article-title":"Development and evolution of the neural crest: an overview","volume":"366","author":"Bronner","year":"2012","journal-title":"Dev Biol"},{"key":"2026051101415960400_ref21","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/ajmg.c.31584","article-title":"CHARGEd with neural crest defects. Am. J","volume":"175","author":"Pauli","year":"2017","journal-title":"Med Genet Part C Semin Med Genet"},{"key":"2026051101415960400_ref22","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1038\/s41434-021-00240-2","article-title":"Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome","volume":"29","author":"Huang","year":"2022","journal-title":"Gene Ther"},{"key":"2026051101415960400_ref23","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1038\/22350","article-title":"The chromatin-specific transcription elongation factor FACT comprises human SPT16 and SSRP1 proteins","volume":"400","author":"Orphanides","year":"1999","journal-title":"Nature"},{"key":"2026051101415960400_ref24","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1016\/j.ajhg.2020.06.013","article-title":"De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism","volume":"107","author":"Guillen Sacoto","year":"2020","journal-title":"Am J Hum Genet"},{"key":"2026051101415960400_ref25","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/aja.1002030302","article-title":"Stages of embryonic development of the zebrafish","volume":"203","author":"Kimmel","year":"1995","journal-title":"Dev Dyn"},{"key":"2026051101415960400_ref26","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1242\/dev.108.1.121","article-title":"The development of a simple scaffold of axon tracts in the brain of the embryonic zebrafish, Brachydanio rerio","volume":"108","author":"Wilson","year":"1990","journal-title":"Development"},{"key":"2026051101415960400_ref27","doi-asserted-by":"crossref","first-page":"496","DOI":"10.3390\/ijms24010496","article-title":"Ipconazole disrupts mitochondrial homeostasis and alters GABAergic neuronal development in zebrafish","volume":"24","author":"Lee","year":"2022","journal-title":"Int J Mol Sci"},{"key":"2026051101415960400_ref28","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1038\/s41467-022-29061-6","article-title":"Zebrafish imaging reveals TP53 mutation switching oncogene-induced senescence from suppressor to driver in primary tumorigenesis","volume":"13","author":"Haraoka","year":"2022","journal-title":"Nat Commun"},{"key":"2026051101415960400_ref29","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1016\/j.chemosphere.2019.04.061","article-title":"3D light-sheet assay assessing novel valproate-associated cardiotoxicity and folic acid relief in zebrafish embryogenesis","volume":"227","author":"Ki","year":"2019","journal-title":"Chemosphere"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/35\/4\/ddag003\/66472786\/ddag003.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/35\/4\/ddag003\/66472786\/ddag003.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T05:42:06Z","timestamp":1778478126000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/doi\/10.1093\/hmg\/ddag003\/8431363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,2,23]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddag003","relation":{},"ISSN":["1460-2083"],"issn-type":[{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026]]},"published":{"date-parts":[[2026]]},"article-number":"ddag003"}}