{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T15:46:54Z","timestamp":1793029614505,"version":"4.5.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2015,6,18]],"date-time":"2015-06-18T00:00:00Z","timestamp":1434585600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Autism Dev Disord"],"published-print":{"date-parts":[[2015,11]]},"DOI":"10.1007\/s10803-015-2484-8","type":"journal-article","created":{"date-parts":[[2015,6,17]],"date-time":"2015-06-17T01:32:18Z","timestamp":1434504738000},"page":"3764-3770","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":72,"title":["Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy"],"prefix":"10.1007","volume":"45","author":[{"given":"Heidi S.","family":"Lumish","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wynn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orrin","family":"Devinsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5685","authenticated-orcid":false,"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,6,18]]},"reference":[{"issue":"4","key":"2484_CR1","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/ajmg.a.32142","volume":"146A","author":"A Adegbola","year":"2008","unstructured":"Adegbola, A., Gao, H., Sommer, S., & Browning, M. (2008). A novel mutation in JARID1C\/SMCX in a patient with autism spectrum disorder (ASD). American Journal of Medical Genetics Part A, 146A(4), 505\u2013511. doi: 10.1002\/ajmg.a.32142 .","journal-title":"American Journal of Medical Genetics Part A"},{"issue":"2","key":"2484_CR2","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.cell.2014.06.017","volume":"158","author":"R Bernier","year":"2014","unstructured":"Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., Coe, B. P., Penn, O., et al. (2014). Disruptive CHD8 mutations define a subtype of autism early in development. Cell, 158(2), 263\u2013276. doi: 10.1016\/j.cell.2014.06.017 .","journal-title":"Cell"},{"issue":"4","key":"2484_CR3","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.cell.2005.10.023","volume":"123","author":"MJ Carrozza","year":"2005","unstructured":"Carrozza, M. J., Li, B., Florens, L., Suganuma, T., Swanson, S. K., Lee, K. K., et al. (2005). Histone H3 methylation by Set2 directs deacetylation of coding regions by Rpd3S to suppress spurious intragenic transcription. Cell, 123(4), 581\u2013592. doi: 10.1016\/j.cell.2005.10.023 .","journal-title":"Cell"},{"issue":"5","key":"2484_CR4","doi-asserted-by":"crossref","first-page":"2881","DOI":"10.1093\/nar\/gks1472","volume":"41","author":"S Carvalho","year":"2013","unstructured":"Carvalho, S., Raposo, A. C., Martins, F. B., Grosso, A. R., Sridhara, S. C., Rino, J., et al. (2013). Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription. Nucleic Acids Research, 41(5), 2881\u20132893. doi: 10.1093\/nar\/gks1472 .","journal-title":"Nucleic Acids Research"},{"issue":"7526","key":"2484_CR5","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/nature13772","volume":"515","author":"S Rubeis De","year":"2014","unstructured":"De Rubeis, S., He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Cicek, A. E., et al. (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature, 515(7526), 209\u2013215. doi: 10.1038\/nature13772 .","journal-title":"Nature"},{"issue":"5","key":"2484_CR6","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"MA DePristo","year":"2011","unstructured":"DePristo, M. A., Banks, E., Poplin, R., Garimella, K. V., Maguire, J. R., Hartl, C., et al. (2011). A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genetics, 43(5), 491\u2013498. doi: 10.1038\/ng.806 .","journal-title":"Nature Genetics"},{"issue":"2","key":"2484_CR7","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.neuron.2010.10.006","volume":"68","author":"GD Fischbach","year":"2010","unstructured":"Fischbach, G. D., & Lord, C. (2010). The Simons Simplex Collection: A resource for identification of autism genetic risk factors. Neuron, 68(2), 192\u2013195. doi: 10.1016\/j.neuron.2010.10.006 .","journal-title":"Neuron"},{"issue":"5","key":"2484_CR8","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/nrg3173","volume":"13","author":"EL Greer","year":"2012","unstructured":"Greer, E. L., & Shi, Y. (2012). Histone methylation: A dynamic mark in health, disease and inheritance. Nature Reviews Genetics, 13(5), 343\u2013357. doi: 10.1038\/nrg3173 .","journal-title":"Nature Reviews Genetics"},{"issue":"3","key":"2484_CR9","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ajhg.2012.02.007","volume":"90","author":"J Hoyer","year":"2012","unstructured":"Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., et al. (2012). Haploinsufficiency of ARID1B, a member of the SWI\/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. American Journal of Human Genetics, 90(3), 565\u2013572. doi: 10.1016\/j.ajhg.2012.02.007 .","journal-title":"American Journal of Human Genetics"},{"issue":"7526","key":"2484_CR10","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature13908","volume":"515","author":"I Iossifov","year":"2014","unstructured":"Iossifov, I., O\u2019Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., et al. (2014). The contribution of de novo coding mutations to autism spectrum disorder. Nature, 515(7526), 216\u2013221. doi: 10.1038\/nature13908 .","journal-title":"Nature"},{"issue":"2","key":"2484_CR11","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.neuron.2012.04.009","volume":"74","author":"I Iossifov","year":"2012","unstructured":"Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., et al. (2012). De novo gene disruptions in children on the autistic spectrum. Neuron, 74(2), 285\u2013299. doi: 10.1016\/j.neuron.2012.04.009 .","journal-title":"Neuron"},{"issue":"4","key":"2484_CR12","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/j.cell.2005.10.025","volume":"123","author":"MC Keogh","year":"2005","unstructured":"Keogh, M. C., Kurdistani, S. K., Morris, S. A., Ahn, S. H., Podolny, V., Collins, S. R., et al. (2005). Cotranscriptional set2 methylation of histone H3 lysine 36 recruits a repressive Rpd3 complex. Cell, 123(4), 593\u2013605. doi: 10.1016\/j.cell.2005.10.025 .","journal-title":"Cell"},{"issue":"2","key":"2484_CR13","doi-asserted-by":"crossref","first-page":"14","DOI":"10.13172\/2052-7810-1-2-610","volume":"1","author":"JM Lasalle","year":"2013","unstructured":"Lasalle, J. M. (2013). Autism genes keep turning up chromatin. OA Autism, 1(2), 14.","journal-title":"OA Autism"},{"issue":"14","key":"2484_CR14","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H., & Durbin, R. (2009). Fast and accurate short read alignment with Burrows\u2013Wheeler transform. Bioinformatics, 25(14), 1754\u20131760. doi: 10.1093\/bioinformatics\/btp324 .","journal-title":"Bioinformatics"},{"issue":"16","key":"2484_CR15","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., et al. (2009). The sequence alignment\/map format and SAMtools. Bioinformatics, 25(16), 2078\u20132079. doi: 10.1093\/bioinformatics\/btp352 .","journal-title":"Bioinformatics"},{"issue":"5968","key":"2484_CR16","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1126\/science.1184208","volume":"327","author":"RF Luco","year":"2010","unstructured":"Luco, R. F., Pan, Q., Tominaga, K., Blencowe, B. J., Pereira-Smith, O. M., & Misteli, T. (2010). Regulation of alternative splicing by histone modifications. Science, 327(5968), 996\u20131000. doi: 10.1126\/science.1184208 .","journal-title":"Science"},{"key":"2484_CR17","author":"A Luscan","year":"2014","unstructured":"Luscan, A., Laurendeau, I., Malan, V., Francannet, C., Odent, S., Giuliano, F., et al. (2014). Mutations in SETD2 cause a novel overgrowth condition. Journal of Medical Genetics. doi: 10.1136\/jmedgenet-2014-102402 .","journal-title":"Journal of Medical Genetics"},{"issue":"7397","key":"2484_CR18","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1038\/nature11011","volume":"485","author":"BM Neale","year":"2012","unstructured":"Neale, B. M., Kou, Y., Liu, L., Ma\u2019ayan, A., Samocha, K. E., Sabo, A., et al. (2012). Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature, 485(7397), 242\u2013245. doi: 10.1038\/nature11011 .","journal-title":"Nature"},{"issue":"6","key":"2484_CR19","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1038\/ng.835","volume":"43","author":"BJ O\u2019Roak","year":"2011","unstructured":"O\u2019Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., et al. (2011). Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics, 43(6), 585\u2013589. doi: 10.1038\/ng.835 .","journal-title":"Nature Genetics"},{"issue":"6114","key":"2484_CR20","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1126\/science.1227764","volume":"338","author":"BJ O\u2019Roak","year":"2012","unstructured":"O\u2019Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., et al. (2012a). Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science, 338(6114), 1619\u20131622. doi: 10.1126\/science.1227764 .","journal-title":"Science"},{"issue":"7397","key":"2484_CR21","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/nature10989","volume":"485","author":"BJ O\u2019Roak","year":"2012","unstructured":"O\u2019Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., et al. (2012b). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485(7397), 246\u2013250. doi: 10.1038\/nature10989 .","journal-title":"Nature"},{"issue":"7304","key":"2484_CR22","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/nature09146","volume":"466","author":"D Pinto","year":"2010","unstructured":"Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466(7304), 368\u2013372. doi: 10.1038\/nature09146 .","journal-title":"Nature"},{"issue":"5","key":"2484_CR23","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nrg3413","volume":"14","author":"JL Ronan","year":"2013","unstructured":"Ronan, J. L., Wu, W., & Crabtree, G. R. (2013). From neural development to cognition: Unexpected roles for chromatin. Nature Reviews Genetics, 14(5), 347\u2013359. doi: 10.1038\/nrg3413 .","journal-title":"Nature Reviews Genetics"},{"issue":"5","key":"2484_CR24","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/j.neuron.2011.05.002","volume":"70","author":"SJ Sanders","year":"2011","unstructured":"Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., et al. (2011). Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron, 70(5), 863\u2013885. doi: 10.1016\/j.neuron.2011.05.002 .","journal-title":"Neuron"},{"issue":"7397","key":"2484_CR25","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/nature10945","volume":"485","author":"SJ Sanders","year":"2012","unstructured":"Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., et al. (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature, 485(7397), 237\u2013241. doi: 10.1038\/nature10945 .","journal-title":"Nature"},{"issue":"5823","key":"2484_CR26","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1126\/science.1138659","volume":"316","author":"J Sebat","year":"2007","unstructured":"Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., et al. (2007). Strong association of de novo copy number mutations with autism. Science, 316(5823), 445\u2013449. doi: 10.1126\/science.1138659 .","journal-title":"Science"},{"key":"2484_CR27","author":"E Shen","year":"2014","unstructured":"Shen, E., Shulha, H., Weng, Z., & Akbarian, S. (2014). Regulation of histone H3K4 methylation in brain development and disease. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. doi: 10.1098\/rstb.2013.0514 .","journal-title":"Philosophical Transactions of the Royal Society of London. Series B, Biological sciences"},{"issue":"3","key":"2484_CR28","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/ng1985","volume":"39","author":"P Szatmari","year":"2007","unstructured":"Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X. Q., et al. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319\u2013328. doi: 10.1038\/ng1985 .","journal-title":"Nature Genetics"}],"container-title":["Journal of Autism and Developmental Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10803-015-2484-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10803-015-2484-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10803-015-2484-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T20:54:39Z","timestamp":1559249679000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10803-015-2484-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,18]]},"references-count":28,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["2484"],"URL":"https:\/\/doi.org\/10.1007\/s10803-015-2484-8","relation":{},"ISSN":["0162-3257","1573-3432"],"issn-type":[{"value":"0162-3257","type":"print"},{"value":"1573-3432","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,18]]}}}