{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T01:39:53Z","timestamp":1780450793495,"version":"3.54.1"},"reference-count":16,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1016\/j.ejmg.2020.104088","type":"journal-article","created":{"date-parts":[[2020,10,15]],"date-time":"2020-10-15T03:35:04Z","timestamp":1602732904000},"page":"104088","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome"],"prefix":"10.1016","volume":"63","author":[{"given":"Peter","family":"Sparber","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Filatova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga","family":"Anisimova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Markova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktoria","family":"Voinova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alena","family":"Chuhrova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vyacheslav","family":"Tabakov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikhail","family":"Skoblov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.ejmg.2020.104088_bib1","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/515582","article-title":"Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction","volume":"80","author":"Amiel","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2020.104088_bib2","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res."},{"issue":"3","key":"10.1016\/j.ejmg.2020.104088_bib3","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1038\/s41431-018-0288-y","article-title":"Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay","volume":"27","author":"Filatova","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2020.104088_bib4","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.molmed.2014.01.010","article-title":"The emerging roles of TCF4 in disease and development","volume":"20","author":"Forrest","year":"2014","journal-title":"Trends Mol. Med."},{"issue":"3","key":"10.1016\/j.ejmg.2020.104088_bib5","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2020.104088_bib6","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s13229-018-0200-1","article-title":"Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons","volume":"9","author":"Jung","year":"2018","journal-title":"Mol. Autism."},{"key":"10.1016\/j.ejmg.2020.104088_bib7","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.gene.2018.06.026","article-title":"Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum","volume":"672","author":"Marakhonov","year":"2018","journal-title":"Gene"},{"issue":"3","key":"10.1016\/j.ejmg.2020.104088_bib8","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1055\/s-0035-1564570","article-title":"Pitt-hopkins syndrome and differential diagnosis: a molecular and clinical challenge","volume":"4","author":"Marangi","year":"2015","journal-title":"J. Pediatr. Genet."},{"key":"10.1016\/j.ejmg.2020.104088_bib9","unstructured":"reportOrphanet Report Series\u00a0- Prevalence of Rare Diseases: Bibliographic Data - January 2020."},{"issue":"3","key":"10.1016\/j.ejmg.2020.104088_bib10","first-page":"182","article-title":"A syndrome of mental retardation, wide mouth and intermittent overbreathing","volume":"14","author":"Pitt","year":"1978","journal-title":"Aust. Paediatr. J."},{"issue":"5","key":"10.1016\/j.ejmg.2020.104088_bib11","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."},{"issue":"11","key":"10.1016\/j.ejmg.2020.104088_bib12","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1097\/GIM.0b013e3181bd38a9","article-title":"Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations","volume":"11","author":"Rosenfeld","year":"2009","journal-title":"Genet. Med."},{"issue":"4","key":"10.1016\/j.ejmg.2020.104088_bib13","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1523\/JNEUROSCI.1305-17.2017","article-title":"Common pathophysiology in multiple mouse models of pitt-hopkins syndrome","volume":"38","author":"Thaxton","year":"2018","journal-title":"J. Neurosci."},{"issue":"1","key":"10.1016\/j.ejmg.2020.104088_bib14","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/humu.21639","article-title":"Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum","volume":"33","author":"Whalen","year":"2012","journal-title":"Hum. Mutat."},{"issue":"4","key":"10.1016\/j.ejmg.2020.104088_bib15","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1111\/cge.13506","article-title":"Diagnosis and management in Pitt-Hopkins syndrome: first international consensus statement","volume":"95","author":"Zollino","year":"2019","journal-title":"Clin. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2020.104088_bib16","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1086\/515583","article-title":"Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)","volume":"80","author":"Zweier","year":"2007","journal-title":"Am. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721220307989?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721220307989?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:48:48Z","timestamp":1761709728000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721220307989"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":16,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["S1769721220307989"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.104088","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.104088","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104088"}}