{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T18:04:22Z","timestamp":1783533862379,"version":"3.55.0"},"reference-count":82,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T00:00:00Z","timestamp":1666051200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100002558","name":"Warren Alpert Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002558","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The National Key Research and Development Program of China","award":["2021YFC1005300"],"award-info":[{"award-number":["2021YFC1005300"]}]},{"DOI":"10.13039\/100007219","name":"Natural Science Foundation of Shanghai","doi-asserted-by":"publisher","award":["cstc2021jcyjmsxmX0281"],"award-info":[{"award-number":["cstc2021jcyjmsxmX0281"]}],"id":[{"id":"10.13039\/100007219","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171840"],"award-info":[{"award-number":["82171840"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["R24OD022005"],"award-info":[{"award-number":["R24OD022005"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000011","name":"HHMI","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>SUPT16H encodes the large subunit of the FAcilitate Chromatin Transcription (FACT) complex, which functions as a nucleosome organizer during transcription. We identified two individuals from unrelated families carrying de novo missense variants in SUPT16H. The probands exhibit global developmental delay, intellectual disability, epilepsy, facial dysmorphism and brain structural abnormalities. We used Drosophila to characterize two variants: p.T171I and p.G808R. Loss of the fly ortholog, dre4, causes lethality at an early developmental stage. RNAi-mediated knockdown of dre4 in either glia or neurons causes severely reduced eclosion and longevity. Tissue-specific knockdown of dre4 in the eye or wing leads to the loss of these tissues, whereas overexpression of SUPT16H has no dominant effect. Moreover, expression of the reference SUPT16H significantly rescues the loss-of-function phenotypes in the nervous system as well as wing and eye. In contrast, expression of SUPT16H p.T171I or p.G808R rescues the phenotypes poorly, indicating that the variants are partial loss-of-function alleles. While previous studies argued that the developmental arrest caused by loss of dre4 is due to impaired ecdysone production in the prothoracic gland, our data show that dre4 is required for proper cell growth and survival in multiple tissues in a cell-autonomous manner. Altogether, our data indicate that the de novo loss-of-function variants in SUPT16H are indeed associated with developmental and neurological defects observed in the probands.<\/jats:p>","DOI":"10.1093\/hmg\/ddac259","type":"journal-article","created":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T20:59:29Z","timestamp":1666040369000},"page":"984-997","source":"Crossref","is-referenced-by-count":20,"title":["The fly homolog of<i>SUPT16H<\/i>, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival"],"prefix":"10.1093","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7345-575X","authenticated-orcid":false,"given":"Mengqi","family":"Ma","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics , Baylor College of Medicine, Houston, TX 77030 , USA"},{"name":"Jan and Dan Duncan Neurological Research Institute , Texas Children's Hospital, Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Zhang","sequence":"additional","affiliation":[{"name":"National Health Commission Key Laboratory of Birth Defects Research , Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008 , China"},{"name":"Department of Neurology , Xiangya Hospital, Central South University, Changsha, Hunan 410008 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiming","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics , Baylor College of Medicine, Houston, TX 77030 , USA"},{"name":"Jan and Dan Duncan Neurological Research Institute , Texas Children's Hospital, Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shenzhao","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics , Baylor College of Medicine, Houston, TX 77030 , USA"},{"name":"Jan and Dan Duncan Neurological Research Institute , Texas Children's Hospital, Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueyang","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics , Baylor College of Medicine, Houston, TX 77030 , USA"},{"name":"Jan and Dan Duncan Neurological Research Institute , Texas Children's Hospital, Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1455-0858","authenticated-orcid":false,"given":"Xiao","family":"Mao","sequence":"additional","affiliation":[{"name":"National Health Commission Key Laboratory of Birth Defects Research , Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008 , China"},{"name":"Department of Medical Genetics , Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongling","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics , Baylor College of Medicine, Houston, TX 77030 , USA"},{"name":"Jan and Dan Duncan Neurological Research Institute , Texas Children's Hospital, Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyung-lok","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics , Baylor College of Medicine, Houston, TX 77030 , USA"},{"name":"Jan and Dan Duncan Neurological Research Institute , Texas Children's Hospital, Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Wang","sequence":"additional","affiliation":[{"name":"National Health Commission Key Laboratory of Birth Defects Research , Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008 , China"},{"name":"Department of Medical Genetics , Hunan Children\u2019s Hospital, Changsha, Hunan 410007 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3244-1340","authenticated-orcid":false,"given":"Hong","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Army Medical University, Chongqing 400038 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo J","family":"Bellen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics , Baylor College of Medicine, Houston, TX 77030 , USA"},{"name":"Jan and Dan Duncan Neurological Research Institute , Texas Children's Hospital, Houston, TX 77030 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,10,18]]},"reference":[{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"8809","DOI":"10.3390\/ijms22168809","article-title":"Emerging single-cell technological approaches to investigate chromatin dynamics and centromere regulation in human health and disease","volume":"22","author":"Leo","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1038\/nsmb1324","article-title":"Gene regulation through nuclear organization","volume":"14","author":"Sexton","year":"2007","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/nrg2522","article-title":"Nucleosome positioning and gene regulation: advances through genomics","volume":"10","author":"Jiang","year":"2009","journal-title":"Nat. Rev. Genet."},{"key":"2023030719034546300_","first-page":"61","article-title":"Epigenetics in disease and cancer","volume":"33","author":"Choo","year":"2011","journal-title":"Malays. J. Pathol."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1515\/BC.2009.131","article-title":"The epigenetic bottleneck of neurodegenerative and psychiatric diseases","volume":"390","author":"Sananbenesi","year":"2009","journal-title":"Biol. Chem."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.pnpbp.2017.12.013","article-title":"The chromatin basis of neurodevelopmental disorders: rethinking dysfunction along the molecular and temporal axes","volume":"84","author":"Gabriele","year":"2018","journal-title":"Prog. Neuropsychopharmacol. Biol. Psychiatry."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1146\/annurev-genet-110410-132512","article-title":"Genetic and epigenetic networks in intellectual disabilities","volume":"45","author":"Bokhoven","year":"2011","journal-title":"Annu. Rev. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"885","DOI":"10.3389\/fgene.2020.00885","article-title":"Neurodevelopmental disorders caused by defective chromatin remodeling: phenotypic complexity is highlighted by a review of ATRX function","volume":"11","author":"Timpano","year":"2020","journal-title":"Front. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"243","DOI":"10.3389\/fnmol.2017.00243","article-title":"Chromatin remodeling BAF (SWI\/SNF) complexes in neural development and disorders","volume":"10","author":"Sokpor","year":"2017","journal-title":"Front. Mol. Neurosci."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"682","DOI":"10.3389\/fgene.2019.00682","article-title":"Chromatin remodeling complex NuRD in neurodevelopment and neurodevelopmental disorders","volume":"10","author":"Hoffmann","year":"2019","journal-title":"Front. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/S0092-8674(00)80903-4","article-title":"FACT, a factor that facilitates transcript elongation through nucleosomes","volume":"92","author":"Orphanides","year":"1998","journal-title":"Cell"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1126\/science.1085703","article-title":"FACT facilitates transcription-dependent nucleosome alteration","volume":"301","author":"Belotserkovskaya","year":"2003","journal-title":"Science"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/j.ajhg.2017.04.010","article-title":"MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome","volume":"100","author":"Wang","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1186\/1471-2105-12-357","article-title":"An integrative approach to ortholog prediction for disease-focused and other functional studies","volume":"12","author":"Hu","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.molcel.2015.09.008","article-title":"FACT disrupts nucleosome structure by binding h2a-h2b with conserved peptide motifs","volume":"60","author":"Kemble","year":"2015","journal-title":"Mol. Cell"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"10183","DOI":"10.1038\/s41598-019-46617-7","article-title":"Structural visualization of key steps in nucleosome reorganization by human FACT","volume":"9","author":"Mayanagi","year":"2019","journal-title":"Sci. Rep."},{"key":"2023030719034546300_","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\u2014resolving FACTual issues","volume":"1861","author":"Gurova","year":"2018","journal-title":"Biochim. Biophys. Acta"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"8884","DOI":"10.1073\/pnas.0712293105","article-title":"The FACT Spt16 \u201cpeptidase\u201d domain is a histone H3\u2013H4 binding module","volume":"105","author":"Stuwe","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","DOI":"10.26508\/lsa.201800107","article-title":"The histone chaperone FACT modulates nucleosome structure by tethering its components","volume":"1","author":"Wang","year":"2018","journal-title":"Life Sci. Alliance."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/S0960-9822(99)80160-2","article-title":"A DNA unwinding factor involved in DNA replication in cell-free extracts of Xenopus eggs","volume":"9","author":"Okuhara","year":"1999","journal-title":"Curr. Biol."},{"key":"2023030719034546300_","first-page":"5710","article-title":"Mutations in SPT16\/CDC68 suppress cis- and trans-acting mutations that affect promoter function in Saccharomyces cerevisiae","volume":"11","author":"Malone","year":"1991","journal-title":"Mol. Cell. Biol."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.molcel.2018.06.020","article-title":"Functions of FACT in breaking the nucleosome and maintaining its integrity at the single-nucleosome level","volume":"71","author":"Chen","year":"2018","journal-title":"Mol. Cell"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","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":"2023030719034546300_","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":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/nature19356","article-title":"High-throughput discovery of novel developmental phenotypes","volume":"537","author":"Dickinson","year":"2016","journal-title":"Nature"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","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":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1093\/genetics\/130.3.555","article-title":"Developmental arrest and ecdysteroid deficiency resulting from mutations at the dre4 locus of Drosophila","volume":"130","author":"Sliter","year":"1992","journal-title":"Genetics"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/genetics\/123.2.327","article-title":"The genetics of the Dras3-roughened-ecdysoneless chromosomal region (62B3-4 to 62D3-4) in Drosophila melanogaster: analysis of recessive lethal mutations","volume":"123","author":"Sliter","year":"1989","journal-title":"Genetics"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"50206","DOI":"10.1074\/jbc.M209820200","article-title":"p53 Serine 392 phosphorylation increases after UV through induction of the assembly of the CK2\u00b7hSPT16\u00b7SSRP1 complex","volume":"277","author":"Keller","year":"2002","journal-title":"J. Biol. Chem."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"5894","DOI":"10.1093\/nar\/gkh922","article-title":"Domain organization of the yeast histone chaperone FACT: the conserved N-terminal domain of FACT subunit Spt16 mediates recovery from replication stress","volume":"32","author":"O\u2019Donnell","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.molcel.2006.03.025","article-title":"The structure of the yFACT Pob3-M domain, its interaction with the DNA replication factor RPA, and a potential role in nucleosome deposition","volume":"22","author":"VanDemark","year":"2006","journal-title":"Mol. Cell"},{"key":"2023030719034546300_","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":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1134\/S0026893315060023","article-title":"Structure and function of histone chaperone FACT","volume":"49","author":"Bondarenko","year":"2015","journal-title":"Mol. Biol."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"10188","DOI":"10.1074\/jbc.C113.451369","article-title":"Structure of the Spt16 middle domain reveals functional features of the histone chaperone FACT","volume":"288","author":"Kemble","year":"2013","journal-title":"J. Biol. Chem."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1038\/nature12242","article-title":"Structural basis of histone H2A\u2013H2B recognition by the essential chaperone FACT","volume":"499","author":"Hondele","year":"2013","journal-title":"Nature"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","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":"2019","journal-title":"Nature"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.conb.2017.10.017","article-title":"Genetic strategies to tackle neurological diseases in fruit flies","volume":"50","author":"\u015eent\u00fcrk","year":"2018","journal-title":"Curr. Opin. Neurobiol."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"R207","DOI":"10.1093\/hmg\/ddz135","article-title":"The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases","volume":"28","author":"Bellen","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"E2967","DOI":"10.1073\/pnas.1405500111","article-title":"Optimized CRISPR\/Cas tools for efficient germline and somatic genome engineering in Drosophila","volume":"111","author":"Port","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1534\/g3.115.019083","article-title":"Systematic evaluation of Drosophila CRISPR tools reveals safe and robust alternatives to autonomous gene drives in basic research","volume":"5","author":"Port","year":"2015","journal-title":"G3. (Bethesda)"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1038\/nmeth.3972","article-title":"Augmenting CRISPR applications in Drosophila with tRNA-flanked sgRNAs","volume":"13","author":"Port","year":"2016","journal-title":"Nat. Methods"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/ng1312","article-title":"Systematic generation of high-resolution deletion coverage of the Drosophila melanogaster genome","volume":"36","author":"Parks","year":"2004","journal-title":"Nat. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1126\/science.1134426","article-title":"P[acman]: A BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster","volume":"314","author":"Venken","year":"2006","journal-title":"Science"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/nmeth.1592","article-title":"A genome-scale shRNA resource for transgenic RNAi in Drosophila","volume":"8","author":"Ni","year":"2011","journal-title":"Nat. Methods"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/bio.2015.0032","article-title":"A novel approach to high-quality postmortem tissue procurement: the GTEx project","volume":"13","author":"Carithers","year":"2015","journal-title":"Biopreserv. Biobank"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.cmet.2015.07.006","article-title":"Glial glycolysis is essential for neuronal survival in Drosophila","volume":"22","author":"Volkenhoff","year":"2015","journal-title":"Cell Metab."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"dev157115","DOI":"10.1242\/dev.157115","article-title":"Variant cell cycles regulated by Notch signaling control cell size and ensure a functional blood-brain barrier","volume":"145","author":"Stetina","year":"2018","journal-title":"Development"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"2546","DOI":"10.1093\/hmg\/ddy160","article-title":"Glial expression of disease-associated poly-glutamine proteins impairs the blood\u2013brain barrier in Drosophila","volume":"27","author":"Yeh","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"eabh0050","DOI":"10.1126\/sciadv.abh0050","article-title":"Brain inflammation triggers macrophage invasion across the blood-brain barrier in Drosophila during pupal stages","volume":"7","author":"Winkler","year":"2021","journal-title":"Sci. Adv."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"2023","DOI":"10.1101\/gad.305888.117","article-title":"The secreted neurotrophin Sp\u00e4tzle 3 promotes glial morphogenesis and supports neuronal survival and function","volume":"31","author":"Coutinho-Budd","year":"2017","journal-title":"Genes Dev."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1146\/annurev-ento-120811-153608","article-title":"Ecdysone control of developmental transitions: lessons from Drosophila research","volume":"58","author":"Yamanaka","year":"2013","journal-title":"Annu. Rev. Entomol."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.ydbio.2006.07.023","article-title":"Spook and Spookier code for stage-specific components of the ecdysone biosynthetic pathway in Diptera","volume":"298","author":"Ono","year":"2006","journal-title":"Dev. Biol."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"1824","DOI":"10.1083\/jcb.201803116","article-title":"Junctional tumor suppressors interact with 14-3-3 proteins to control planar spindle alignment","volume":"218","author":"Nakajima","year":"2019","journal-title":"J. Cell Biol."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"5466","DOI":"10.1038\/s41467-019-13477-8","article-title":"Transcription elongation factor AFF2\/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS\/FTD","volume":"10","author":"Yuva-Aydemir","year":"2019","journal-title":"Nat. Commun."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1534\/genetics.117.300256","article-title":"Mosaic analysis in Drosophila","volume":"208","author":"Germani","year":"2018","journal-title":"Genetics"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ajmg.a.36200","volume":"164","author":"Terrone","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1136\/jmg.2007.050823","article-title":"Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children","volume":"44","author":"Zahir","year":"2007","journal-title":"J. Med. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/s10038-019-0561-0","article-title":"A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8","volume":"64","author":"Yasin","year":"2019","journal-title":"J. Hum. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1002\/ajmg.1320520109","article-title":"De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations","volume":"52","author":"Shapira","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"2023030719034546300_","first-page":"30","article-title":"First case of deletion 14q11.2q13: clinical phenotype","volume":"37","author":"Grammatico","year":"1994","journal-title":"Ann. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.cell.2014.06.017","article-title":"Disruptive CHD8 mutations define a subtype of autism early in development","volume":"158","author":"Bernier","year":"2014","journal-title":"Cell"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"477","DOI":"10.3389\/fnins.2015.00477","article-title":"Mutations and modeling of the chromatin remodeler CHD8 define an emerging autism etiology","volume":"9","author":"Barnard","year":"2015","journal-title":"Front. Neurosci."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1038\/nature11011","article-title":"Patterns and rates of exonic de novo mutations in autism spectrum disorders","volume":"485","author":"Neale","year":"2012","journal-title":"Nature"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"10","DOI":"10.14806\/ej.17.1.200","article-title":"Cutadapt removes adapter sequences from high-throughput sequencing reads","volume":"17","author":"Martin","year":"2011","journal-title":"Embnet. J."},{"key":"2023030719034546300_","article-title":"Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM","author":"Li","year":"2013"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"2678","DOI":"10.1093\/bioinformatics\/bts503","article-title":"Qualimap: evaluating next-generation sequencing alignment data","volume":"28","author":"Garc\u00eda-Alcalde","year":"2012","journal-title":"Bioinformatics"},{"key":"2023030719034546300_","first-page":"11.10.1-11.10.33","article-title":"From FastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline","volume":"43","author":"Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl variant effect predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13040-017-0126-8","article-title":"Meta-analytic support vector machine for integrating multiple omics data","volume":"10","author":"Kim","year":"2017","journal-title":"Biodata. Min."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0165685","article-title":"High-resolution spatial distribution and estimation of access to improved sanitation in Kenya","volume":"11","author":"Jia","year":"2016","journal-title":"PLoS One"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat. Methods"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ajhg.2017.01.004","article-title":"InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines","volume":"100","author":"Li","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/s41556-020-0470-7","article-title":"A perinuclear microtubule-organizing centre controls nuclear positioning and basement membrane secretion","volume":"22","author":"Zheng","year":"2020","journal-title":"Nat. Cell Biol."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1534\/genetics.119.302964","article-title":"Large-scale transgenic Drosophila resource collections for loss- and gain-of-function studies","volume":"214","author":"Zirin","year":"2020","journal-title":"Genetics"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.ajhg.2019.06.014","article-title":"De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia","volume":"105","author":"Kanca","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"2434","DOI":"10.1242\/dev.088757","article-title":"A versatile platform for creating a comprehensive UAS-ORFeome library in Drosophila","volume":"140","author":"Bischof","year":"2013","journal-title":"Development"},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"3770","DOI":"10.1016\/j.celrep.2019.05.099","article-title":"A role for FACT in RNA polymerase II promoter-proximal pausing","volume":"27","author":"Tettey","year":"2019","journal-title":"Cell Rep."},{"key":"2023030719034546300_","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1016\/j.ajhg.2021.06.019","article-title":"TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila","volume":"108","author":"Goodman","year":"2021","journal-title":"Am. J. Hum. Genet."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddac259\/47267432\/ddac259.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/32\/6\/984\/49433952\/ddac259.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/32\/6\/984\/49433952\/ddac259.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T19:24:37Z","timestamp":1678303477000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/32\/6\/984\/6762996"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,18]]},"references-count":82,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,10,18]]},"published-print":{"date-parts":[[2023,3,6]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddac259","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,3,15]]},"published":{"date-parts":[[2022,10,18]]}}}