{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:48:45Z","timestamp":1791496125694,"version":"4.3.4"},"reference-count":71,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T00:00:00Z","timestamp":1727136000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Childhood apraxia of speech (CAS) is a genetically heterogeneous pediatric motor speech disorder. The advent of whole exome sequencing (WES) and whole genome sequencing techniques has led to increased identification of pathogenic variants in CAS genes. In an as yet uncharacterized Italian cohort, we aimed both to identify new pathogenic gene variants associated with CAS, and to confirm the disease-related role of genes already reported by others. We also set out to refine the clinical and neurodevelopmental characterization of affected children, with the aim of identifying specific, gene-related phenotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In a single-center study aiming to explore the genetic etiology of CAS in a cohort of 69 Italian children, WES was performed in the families of the 34 children found to have no copy number variants. Each of these families had only one child affected by CAS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>High-confidence (HC) gene variants were identified in 7\/34 probands, in two of whom they affected <jats:italic>KAT6A<\/jats:italic> and <jats:italic>CREBBP<\/jats:italic>, thus confirming the involvement of these genes in speech impairment. The other probands carried variants in low-confidence (LC) genes, and 20 of these variants occurred in genes not previously reported as associated with CAS. <jats:italic>UBA6, ZFHX4<\/jats:italic>, and <jats:italic>KAT6A<\/jats:italic> genes were found to be more enriched in the CAS cohort compared to control individuals. Our results also showed that most HC genes are involved in epigenetic mechanisms and are expressed in brain regions linked to language acquisition processes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings confirm a relatively high diagnostic yield in Italian patients.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fnins.2024.1396240","type":"journal-article","created":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T14:45:49Z","timestamp":1727189149000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience"],"prefix":"10.3389","volume":"18","author":[{"given":"Daniela","family":"Formicola","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Podda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elia","family":"Dirupo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Andreucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Giglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Cipriani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Bombonato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Chilosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,9,24]]},"reference":[{"key":"ref1","unstructured":"Childhood apraxia of speech [technical report]\n          \n          \n          \n          2007"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.3109\/14767058.2013.860520","article-title":"A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature","volume":"27","author":"Aravidis","year":"2014","journal-title":"J. Matern. Fetal Neonatal Med."},{"key":"ref3","doi-asserted-by":"publisher","first-page":"104170","DOI":"10.1016\/j.ridd.2021.104170","article-title":"Implicit learning in children with childhood apraxia of speech","volume":"122","author":"Bombonato","year":"2022","journal-title":"Res. Dev. Disabil."},{"key":"ref4","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.3390\/genes15081033","article-title":"A genotype\/phenotype study of KDM5B-associated disorders suggests a pathogenic effect of dominantly inherited missense variants","volume":"15","author":"Borroto","year":"2024","journal-title":"Genes"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1080\/17549507.2021.2018496","article-title":"\u201cI still have issues with pronunciation of words\u201d: a mixed methods investigation of the psychosocial and speech effects of childhood apraxia of speech in adults","volume":"25","author":"Cassar","year":"2023","journal-title":"Int. J. Speech Lang. Pathol."},{"key":"ref6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1044\/2022_JSLHR-22-00436","article-title":"Comorbidity and severity in childhood apraxia of speech: a retrospective chart review","volume":"66","author":"Chenausky","year":"2023","journal-title":"J. Speech Lang. Hear. Res."},{"key":"ref7","doi-asserted-by":"publisher","first-page":"106033","DOI":"10.1016\/j.jcomdis.2020.106033","article-title":"Factor analysis of signs of childhood apraxia of speech","volume":"87","author":"Chenausky","year":"2020","journal-title":"J. Commun. Disord."},{"key":"ref8","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1002\/jnr.24976","article-title":"Sex differences in early language delay and in developmental language disorder","volume":"101","author":"Chilosi","year":"2023","journal-title":"J. Neurosci. Res."},{"key":"ref9","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1016\/j.bandl.2015.10.002","article-title":"Behavioral and neurobiological correlates of childhood apraxia of speech in Italian children","volume":"150","author":"Chilosi","year":"2015","journal-title":"Brain Lang."},{"key":"ref10","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.ridd.2019.03.005","article-title":"Which linguistic measures distinguish transient from persistent language problems in late talkers from 2 to 4 years? A study on Italian speaking children","volume":"89","author":"Chilosi","year":"2019","journal-title":"Res. Dev. Disabil."},{"key":"ref11","doi-asserted-by":"publisher","first-page":"313","DOI":"10.3390\/jpm12020313","article-title":"Differences and commonalities in children with childhood apraxia of speech and comorbid neurodevelopmental disorders: a multidimensional perspective","volume":"12","author":"Chilosi","year":"2022","journal-title":"J Pers Med"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"275","DOI":"10.3390\/jpm10040275","article-title":"Autism Spectrum disorder and childhood apraxia of speech: early language-related hallmarks across structural MRI study","volume":"10","author":"Conti","year":"2020","journal-title":"J Pers Med"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1038\/s41380-018-0020-x","article-title":"A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development","volume":"24","author":"Eising","year":"2019","journal-title":"Mol. Psychiatry"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/j.ajhg.2017.11.013","article-title":"Histone lysine methylases and demethylases in the landscape of human developmental disorders","volume":"102","author":"Faundes","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref15","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1016\/j.nicl.2016.11.003","article-title":"Neuroanatomical correlates of childhood apraxia of speech: a connectomic approach","volume":"12","author":"Fiori","year":"2016","journal-title":"Neuroimage Clin"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"104321","DOI":"10.1016\/j.ejmg.2021.104321","article-title":"A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype","volume":"64","author":"Fontana","year":"2021","journal-title":"Eur. J. Med. Genet."},{"key":"ref17","volume-title":"Developmental apraxia of speech: Theory and clinical practice","author":"Hall","year":"1993"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"e2148","DOI":"10.1212\/WNL.0000000000009441","article-title":"Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation","volume":"94","author":"Hildebrand","year":"2020","journal-title":"Neurology"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"e1145","DOI":"10.1002\/mgg3.1145","article-title":"A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder","volume":"8","author":"Hiraide","year":"2020","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref20","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1044\/2022_LSHSS-21-00164","article-title":"A tool for differential diagnosis of childhood apraxia of speech and dysarthria in children: a tutorial","volume":"53","author":"Iuzzini-Seigel","year":"2022","journal-title":"Lang. Speech Hear. Serv. Sch."},{"key":"ref21","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1007\/s10548-013-0308-8","article-title":"Cortical thickness in children receiving intensive therapy for idiopathic apraxia of speech","volume":"27","author":"Kadis","year":"2014","journal-title":"Brain Topogr."},{"key":"ref22","doi-asserted-by":"publisher","first-page":"1647","DOI":"10.1038\/s41380-022-01764-8","article-title":"Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development","volume":"28","author":"Kaspi","year":"2023","journal-title":"Mol. Psychiatry"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1038\/s41436-018-0259-2","article-title":"KAT6A syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants","volume":"21","author":"Kennedy","year":"2019","journal-title":"Genet. Med."},{"key":"ref24","doi-asserted-by":"publisher","first-page":"32","DOI":"10.3389\/fnsys.2013.00032","article-title":"Functional roles of the thalamus for language capacities","volume":"7","author":"Klostermann","year":"2013","journal-title":"Front. Syst. Neurosci."},{"key":"ref25","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s12311-013-0511-x","article-title":"Consensus paper: the cerebellum\u2019s role in movement and cognition","volume":"13","author":"Koziol","year":"2014","journal-title":"Cerebellum"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1002\/ajmg.a.37528","article-title":"Muenke syndrome: an international multicenter natural history study","volume":"170","author":"Kruszka","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"ref27","article-title":"Muenke Syndrome","volume-title":"GeneReviews((R))","author":"Kruszka","year":"1993"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.cca.2017.03.022","article-title":"Global developmental delay and intellectual disability associated with a de novo TOP2B mutation","volume":"469","author":"Lam","year":"2017","journal-title":"Clin. Chim. Acta"},{"key":"ref29","doi-asserted-by":"publisher","first-page":"a003913","DOI":"10.1101\/mcs.a003913","article-title":"A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders","volume":"5","author":"Lamb","year":"2019","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"ref31","doi-asserted-by":"publisher","first-page":"2572","DOI":"10.1044\/2021_AJSLP-21-00035","article-title":"Psychosocial comorbidities in adolescents with histories of childhood apraxia of speech","volume":"30","author":"Lewis","year":"2021","journal-title":"Am. J. Speech Lang. Pathol."},{"key":"ref32","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1044\/0161-1461(2004\/014)","article-title":"School-age follow-up of children with childhood apraxia of speech","volume":"35","author":"Lewis","year":"2004","journal-title":"Lang. Speech Hear. Serv. Sch."},{"key":"ref33","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1044\/2023_JSLHR-22-00647","article-title":"Long-term outcomes for individuals with childhood apraxia of speech","author":"Lewis","year":"2023","journal-title":"J. Speech Lang. Hear. Res."},{"key":"ref34","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"ref30","doi-asserted-by":"publisher","first-page":"654","DOI":"10.3389\/fgene.2020.00654","article-title":"Gene Set Analysis: Challenges, Opportunities, and Future Research","volume":"11","author":"Maleki","year":"2020","journal-title":"Front. Genet."},{"key":"ref35","doi-asserted-by":"publisher","first-page":"2681","DOI":"10.1002\/ajmg.a.37800","article-title":"CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype","volume":"170","author":"Menke","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"ref36","doi-asserted-by":"publisher","first-page":"1432","DOI":"10.1044\/2019_AJSLP-18-0132","article-title":"Reading outcomes for individuals with histories of suspected childhood apraxia of speech","volume":"28","author":"Miller","year":"2019","journal-title":"Am. J. Speech Lang. Pathol."},{"key":"ref37","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1044\/2022_LSHSS-21-00149","article-title":"Reading skills in children with suspected childhood apraxia of speech and children with Reading disorders: same or different?","volume":"53","author":"Miller","year":"2022","journal-title":"Lang. Speech Hear. Serv. Sch."},{"key":"ref38","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1038\/nature13185","article-title":"Transcriptional landscape of the prenatal human brain","volume":"508","author":"Miller","year":"2014","journal-title":"Nature"},{"key":"ref39","doi-asserted-by":"publisher","first-page":"e1003897","DOI":"10.1371\/journal.pgen.1003897","article-title":"Ash1l methylates Lys36 of histone H3 independently of transcriptional elongation to counteract polycomb silencing","volume":"9","author":"Miyazaki","year":"2013","journal-title":"PLoS Genet."},{"key":"ref40","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1054\/jcms.2001.0183","article-title":"New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis","volume":"29","author":"Moko","year":"2001","journal-title":"J. Craniomaxillofac. Surg."},{"key":"ref41","doi-asserted-by":"publisher","first-page":"1281","DOI":"10.1038\/s41380-024-02409-8","article-title":"Genetic architecture of childhood speech disorder: a review","volume":"29","author":"Morgan","year":"2024","journal-title":"Mol. Psychiatry"},{"key":"ref42","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1136\/jmg-2022-108734","article-title":"In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2","volume":"60","author":"Morison","year":"2023","journal-title":"J. Med. Genet."},{"key":"ref43","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1080\/02699206.2018.1513565","article-title":"Comorbid morphological disorder apparent in some children aged 4-5 years with childhood apraxia of speech: findings from standardised testing","volume":"33","author":"Murray","year":"2019","journal-title":"Clin. Linguist. Phon."},{"key":"ref44","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1017\/s0012162200001109","article-title":"Acquired aphasia in children after surgical resection of left-thalamic tumors","volume":"42","author":"Nass","year":"2000","journal-title":"Dev. Med. Child Neurol."},{"key":"ref45","doi-asserted-by":"publisher","first-page":"1338078","DOI":"10.3389\/fgene.2023.1338078","article-title":"Editorial: characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery","volume":"14","author":"Ng","year":"2023","journal-title":"Front. Genet."},{"key":"ref46","doi-asserted-by":"publisher","first-page":"1644","DOI":"10.1002\/ajmg.a.38193","article-title":"Novel MCA\/ID syndrome with ASH1L mutation","volume":"173","author":"Okamoto","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"ref47","doi-asserted-by":"publisher","first-page":"33","DOI":"10.3389\/fnins.2018.00033","article-title":"Cognitive functions and neurodevelopmental disorders involving the prefrontal cortex and mediodorsal thalamus","volume":"12","author":"Ouhaz","year":"2018","journal-title":"Front. Neurosci."},{"key":"ref48","doi-asserted-by":"publisher","first-page":"83","DOI":"10.3390\/children10010083","article-title":"The entity of cerebellar mutism syndrome: a narrative review centered on the etiology, diagnostics, prevention, and therapeutic options","volume":"10","author":"Panagopoulos","year":"2022","journal-title":"Children"},{"key":"ref49","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1016\/j.neuroimage.2012.04.062","article-title":"A review and synthesis of the first 20 years of PET and fMRI studies of heard speech, spoken language and reading","volume":"62","author":"Price","year":"2012","journal-title":"NeuroImage"},{"key":"ref50","doi-asserted-by":"publisher","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":"ref51","doi-asserted-by":"publisher","first-page":"1051","DOI":"10.1093\/brain\/123.5.1051","article-title":"The cerebellum contributes to higher functions during development: evidence from a series of children surgically treated for posterior fossa tumours","volume":"123","author":"Riva","year":"2000","journal-title":"Brain"},{"key":"ref52","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<296::AID-AJMG25>3.0.CO;2-6","article-title":"Nonpenetrance in FGFR3-associated coronal synostosis syndrome","volume":"80","author":"Robin","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref53","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1016\/j.nic.2016.03.003","article-title":"The role of the pediatric cerebellum in motor functions, cognition, and behavior: a clinical perspective","volume":"26","author":"Salman","year":"2016","journal-title":"Neuroimaging Clin. N. Am."},{"key":"ref54","doi-asserted-by":"publisher","first-page":"108678","DOI":"10.1016\/j.yebeh.2022.108678","article-title":"DEPDC5-related epilepsy: a comprehensive review","volume":"130","author":"Samanta","year":"2022","journal-title":"Epilepsy Behav."},{"key":"ref55","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1007\/s11626-014-9741-6","article-title":"Dynamic patterns of histone H3 lysine 4 methyltransferases and demethylases during mouse preimplantation development","volume":"50","author":"Shao","year":"2014","journal-title":"In Vitro Cell. Dev. Biol. Anim."},{"key":"ref56","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/j.conb.2007.07.003","article-title":"The thalamus is more than just a relay","volume":"17","author":"Sherman","year":"2007","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref57","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1044\/jslhr.4002.273","article-title":"Developmental apraxia of speech: I. Descriptive and theoretical perspectives","volume":"40","author":"Shriberg","year":"1997","journal-title":"J. Speech Lang. Hear. Res."},{"key":"ref58","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1080\/02699206.2019.1595731","article-title":"Estimates of the prevalence of motor speech disorders in children with idiopathic speech delay","volume":"33","author":"Shriberg","year":"","journal-title":"Clin. Linguist. Phon."},{"key":"ref59","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1044\/1092-4388(2010\/10-0068)","article-title":"Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia","volume":"54","author":"Shriberg","year":"2011","journal-title":"J. Speech Lang. Hear. Res."},{"key":"ref60","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1080\/02699206.2019.1595732","article-title":"Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders","volume":"33","author":"Shriberg","year":"","journal-title":"Clin. Linguist. Phon."},{"key":"ref61","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1007\/s12311-020-01207-6","article-title":"Contribution of the cerebellum and the basal ganglia to language production: speech, word fluency, and sentence construction-evidence from pathology","volume":"20","author":"Silveri","year":"2021","journal-title":"Cerebellum"},{"key":"ref62","doi-asserted-by":"publisher","first-page":"3389","DOI":"10.1002\/ajmg.a.62899","article-title":"Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome","volume":"188","author":"St John","year":"2022","journal-title":"Am. J. Med. Genet. A"},{"key":"ref63","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1186\/s12887-020-02421-1","article-title":"Feature-driven classification reveals potential comorbid subtypes within childhood apraxia of speech","volume":"20","author":"Stein","year":"2020","journal-title":"BMC Pediatr."},{"key":"ref64","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1038\/ng.3792","article-title":"Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases","volume":"49","author":"Stessman","year":"2017","journal-title":"Nat. Genet."},{"key":"ref65","doi-asserted-by":"publisher","first-page":"100 e109","DOI":"10.1016\/j.neurobiolaging.2020.08.014","article-title":"Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature","volume":"99","author":"Swift","year":"2021","journal-title":"Neurobiol. Aging"},{"key":"ref66","doi-asserted-by":"publisher","first-page":"1595","DOI":"10.1044\/1092-4388(2009\/07-0283)","article-title":"Computational neural modeling of speech motor control in childhood apraxia of speech (CAS)","volume":"52","author":"Terband","year":"2009","journal-title":"J. Speech Lang. Hear. Res."},{"key":"ref67","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1093\/bib\/bbs017","article-title":"Integrative genomics viewer (IGV): high-performance genomics data visualization and exploration","volume":"14","author":"Thorvaldsdottir","year":"2013","journal-title":"Brief. Bioinform."},{"key":"ref68","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"ref69","doi-asserted-by":"publisher","first-page":"13316","DOI":"10.1038\/ncomms13316","article-title":"De novo genic mutations among a Chinese autism spectrum disorder cohort","volume":"7","author":"Wang","year":"2016","journal-title":"Nat. Commun."},{"key":"ref70","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1093\/neuogen\/gny123","article-title":"Functional enrichment analysis of mutated genes in neuropsychiatric disorders using TOPPGENE","volume":"19","author":"Zhang","year":"2023","journal-title":"Neuropsychiatric Genetics"},{"key":"ref71","doi-asserted-by":"publisher","first-page":"2562","DOI":"10.1002\/ajmg.a.38330","article-title":"Variants in KAT6A and pituitary anomalies","volume":"173","author":"Zwaveling-Soonawala","year":"2017","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Frontiers in Neuroscience"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fnins.2024.1396240\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T14:45:54Z","timestamp":1727189154000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fnins.2024.1396240\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,24]]},"references-count":71,"alternative-id":["10.3389\/fnins.2024.1396240"],"URL":"https:\/\/doi.org\/10.3389\/fnins.2024.1396240","relation":{},"ISSN":["1662-453X"],"issn-type":[{"value":"1662-453X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,24]]},"article-number":"1396240"}}