{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:08:10Z","timestamp":1790456890153,"version":"4.1.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T00:00:00Z","timestamp":1591747200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T00:00:00Z","timestamp":1591747200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81330027"],"award-info":[{"award-number":["81330027"]}],"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":["81525007"],"award-info":[{"award-number":["81525007"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002767","name":"China Hunan Provincial Science & Technology Department","doi-asserted-by":"crossref","award":["2019RS2005"],"award-info":[{"award-number":["2019RS2005"]}],"id":[{"id":"10.13039\/501100002767","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012486","name":"Innovation-Driven Project of Central South University","doi-asserted-by":"publisher","award":["2020CX042"],"award-info":[{"award-number":["2020CX042"]}],"id":[{"id":"10.13039\/501100012486","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1007\/s12031-020-01615-7","type":"journal-article","created":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T06:02:28Z","timestamp":1591768948000},"page":"2085-2092","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders"],"prefix":"10.1007","volume":"70","author":[{"given":"Yingting","family":"Quan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiumeng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meilin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huidan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianjun","family":"Ou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yidong","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuokuo","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guanglei","family":"Xun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingping","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengmao","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1570-2545","authenticated-orcid":false,"given":"Hui","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,10]]},"reference":[{"key":"1615_CR1","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1016\/j.devcel.2008.02.006","volume":"14","author":"KM Cadigan","year":"2008","unstructured":"Cadigan KM (2008) Wnt\/beta-catenin signaling: turning the switch. Dev Cell 14:322\u2013323. https:\/\/doi.org\/10.1016\/j.devcel.2008.02.006","journal-title":"Dev Cell"},{"key":"1615_CR2","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1136\/jmedgenet-2015-103233","volume":"53","author":"CA Heinen","year":"2016","unstructured":"Heinen CA et al (2016) A specific mutation in TBL1XR1 causes Pierpont syndrome. J Med Genet 53:330\u2013337. https:\/\/doi.org\/10.1136\/jmedgenet-2015-103233","journal-title":"J Med Genet"},{"key":"1615_CR3","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/s1043-2760(99)00215-5","volume":"11","author":"X Hu","year":"2000","unstructured":"Hu X, Lazar MA (2000) Transcriptional repression by nuclear hormone receptors. Trends Endocrinol Metab 11:6\u201310. https:\/\/doi.org\/10.1016\/s1043-2760(99)00215-5","journal-title":"Trends Endocrinol Metab"},{"key":"1615_CR4","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/j.braindev.2015.09.011","volume":"38","author":"Y Kobayashi","year":"2016","unstructured":"Kobayashi Y et al (2016) High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. Brain Dev 38:285\u2013292. https:\/\/doi.org\/10.1016\/j.braindev.2015.09.011","journal-title":"Brain Dev"},{"key":"1615_CR5","doi-asserted-by":"publisher","first-page":"1623","DOI":"10.1002\/humu.23641","volume":"39","author":"MJ Landrum","year":"2018","unstructured":"Landrum MJ, Kattman BL (2018) ClinVar at five years: delivering on the promise. Hum Mutat 39:1623\u20131630. https:\/\/doi.org\/10.1002\/humu.23641","journal-title":"Hum Mutat"},{"key":"1615_CR6","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1093\/hmg\/ddv625","volume":"25","author":"RA Laskowski","year":"2016","unstructured":"Laskowski RA et al (2016) Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. Hum Mol Genet 25:927\u2013935. https:\/\/doi.org\/10.1093\/hmg\/ddv625","journal-title":"Hum Mol Genet"},{"key":"1615_CR7","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M et al (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285\u2013291. https:\/\/doi.org\/10.1038\/nature19057","journal-title":"Nature"},{"key":"1615_CR8","doi-asserted-by":"publisher","first-page":"1194","DOI":"10.1038\/nn.4352","volume":"19","author":"SH Lelieveld","year":"2016","unstructured":"Lelieveld SH et al (2016) Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nat Neurosci 19:1194\u20131196. https:\/\/doi.org\/10.1038\/nn.4352","journal-title":"Nat Neurosci"},{"key":"1615_CR9","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1177\/1073858416667270","volume":"23","author":"R Noelanders","year":"2017","unstructured":"Noelanders R, Vleminckx K (2017) How Wnt signaling builds the brain: bridging development and disease. Neuroscientist 23:314\u2013329. https:\/\/doi.org\/10.1177\/1073858416667270","journal-title":"Neuroscientist"},{"key":"1615_CR10","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1038\/nsmb.1983","volume":"18","author":"J Oberoi","year":"2011","unstructured":"Oberoi J et al (2011) Structural basis for the assembly of the SMRT\/NCoR core transcriptional repression machinery. Nat Struct Mol Biol 18:177\u2013184. https:\/\/doi.org\/10.1038\/nsmb.1983","journal-title":"Nat Struct Mol Biol"},{"key":"1615_CR11","doi-asserted-by":"publisher","first-page":"1619","DOI":"10.1126\/science.1227764","volume":"338","author":"BJ O'Roak","year":"2012","unstructured":"O'Roak BJ et al (2012) Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338:1619\u20131622. https:\/\/doi.org\/10.1126\/science.1227764","journal-title":"Science"},{"key":"1615_CR12","doi-asserted-by":"publisher","first-page":"5595","DOI":"10.1038\/ncomms6595","volume":"5","author":"BJ O'Roak","year":"2014","unstructured":"O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE (2014) Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun 5:5595. https:\/\/doi.org\/10.1038\/ncomms6595","journal-title":"Nat Commun"},{"key":"1615_CR13","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1016\/s0092-8674(04)00133-3","volume":"116","author":"V Perissi","year":"2004","unstructured":"Perissi V, Aggarwal A, Glass CK, Rose DW, Rosenfeld MG (2004) A corepressor\/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors. Cell 116:511\u2013526. https:\/\/doi.org\/10.1016\/s0092-8674(04)00133-3","journal-title":"Cell"},{"key":"1615_CR14","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<18::AID-AJMG5>3.0.CO;2-M","volume":"75","author":"ME Pierpont","year":"1998","unstructured":"Pierpont ME, Stewart FJ, Gorlin RJ (1998) Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA\/MR syndrome. Am J Med Genet 75:18\u201321","journal-title":"Am J Med Genet"},{"key":"1615_CR15","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1002\/ajmg.a.36759","volume":"167A","author":"L Pons","year":"2015","unstructured":"Pons L et al (2015) A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion. Am J Med Genet A 167A:164\u2013168. https:\/\/doi.org\/10.1002\/ajmg.a.36759","journal-title":"Am J Med Genet A"},{"key":"1615_CR16","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S et al (2015) 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. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"1615_CR17","doi-asserted-by":"publisher","first-page":"2132","DOI":"10.1002\/ajmg.a.38285","volume":"173","author":"V Riehmer","year":"2017","unstructured":"Riehmer V et al (2017) A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome. Am J Med Genet A 173:2132\u20132138. https:\/\/doi.org\/10.1002\/ajmg.a.38285","journal-title":"Am J Med Genet A"},{"key":"1615_CR18","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1038\/jhg.2014.71","volume":"59","author":"H Saitsu","year":"2014","unstructured":"Saitsu H et al (2014) A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. J Hum Genet 59:581\u2013583. https:\/\/doi.org\/10.1038\/jhg.2014.71","journal-title":"J Hum Genet"},{"key":"1615_CR19","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1007\/s00439-017-1779-6","volume":"136","author":"PD Stenson","year":"2017","unstructured":"Stenson PD et al (2017) The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 136:665\u2013677. https:\/\/doi.org\/10.1007\/s00439-017-1779-6","journal-title":"Hum Genet"},{"key":"1615_CR20","doi-asserted-by":"publisher","first-page":"e115","DOI":"10.1093\/nar\/gks596","volume":"40","author":"A Untergasser","year":"2012","unstructured":"Untergasser A, Cutcutache I, Koressaar T, Ye J, Faircloth BC, Remm M, Rozen SG (2012) Primer3--new capabilities and interfaces. Nucleic Acids Res 40:e115. https:\/\/doi.org\/10.1093\/nar\/gks596","journal-title":"Nucleic Acids Res"},{"key":"1615_CR21","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164. https:\/\/doi.org\/10.1093\/nar\/gkq603","journal-title":"Nucleic Acids Res"},{"key":"1615_CR22","doi-asserted-by":"publisher","first-page":"13316","DOI":"10.1038\/ncomms13316","volume":"7","author":"T Wang","year":"2016","unstructured":"Wang T, Guo H, Xiong B, Stessman HAF, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K, Eichler EE (2016) De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun 7:13316. https:\/\/doi.org\/10.1038\/ncomms13316","journal-title":"Nat Commun"},{"key":"1615_CR23","doi-asserted-by":"publisher","first-page":"1336","DOI":"10.1093\/emboj\/cdg120","volume":"22","author":"HG Yoon","year":"2003","unstructured":"Yoon HG, Chan DW, Huang ZQ, Li J, Fondell JD, Qin J, Wong J (2003) Purification and functional characterization of the human N-CoR complex: the roles of HDAC3, TBL1 and TBLR1. EMBO J 22:1336\u20131346. https:\/\/doi.org\/10.1093\/emboj\/cdg120","journal-title":"EMBO J"},{"key":"1615_CR24","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1186\/1471-2121-7-31","volume":"7","author":"XM Zhang","year":"2006","unstructured":"Zhang XM, Chang Q, Zeng L, Gu J, Brown S, Basch RS (2006) TBLR1 regulates the expression of nuclear hormone receptor co-repressors BMC. Cell Biol 7:31. https:\/\/doi.org\/10.1186\/1471-2121-7-31","journal-title":"Cell Biol"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01615-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12031-020-01615-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01615-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T07:55:47Z","timestamp":1625126147000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12031-020-01615-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,10]]},"references-count":24,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1615"],"URL":"https:\/\/doi.org\/10.1007\/s12031-020-01615-7","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,10]]},"assertion":[{"value":"1 February 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 May 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 June 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"This study was approved by the Human Ethics Committee of Center for Medical Genetics, Central South University.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Written informed consent was obtained from the family in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Written informed consent was obtained from the family in the study.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"Not applicable.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Code Availability"}}]}}