{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T13:59:59Z","timestamp":1792245599269,"version":"4.4.0"},"reference-count":66,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100012336","name":"Major State Basic Research Development Program of China","doi-asserted-by":"crossref","award":["2012CB517902"],"award-info":[{"award-number":["2012CB517902"]}],"id":[{"id":"10.13039\/501100012336","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012336","name":"Major State Basic Research Development Program of China","doi-asserted-by":"crossref","award":["2012CB517904"],"award-info":[{"award-number":["2012CB517904"]}],"id":[{"id":"10.13039\/501100012336","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Key Technology Research and Development Program of China","award":["2012BAI03B00"],"award-info":[{"award-number":["2012BAI03B00"]}]},{"name":"Special Research Program of National Health and Family Planning Commission of China","award":["201302002"],"award-info":[{"award-number":["201302002"]}]},{"name":"International S&T Cooperation Program of China","award":["2011DFA30670"],"award-info":[{"award-number":["2011DFA30670"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31571357\/31771404"],"award-info":[{"award-number":["31571357\/31771404"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"AstraZeneca Innovation Center China","award":["Wenzhou Medical University"],"award-info":[{"award-number":["Wenzhou Medical University"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetics and Genomics"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1016\/j.jgg.2018.09.002","type":"journal-article","created":{"date-parts":[[2018,10,20]],"date-time":"2018-10-20T22:55:43Z","timestamp":1540076143000},"page":"527-538","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":48,"title":["Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing"],"prefix":"10.1016","volume":"45","author":[{"given":"Jinyu","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiu","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinchen","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongshan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingbang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueli","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanshi","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junpu","family":"Mei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingjie","family":"Min","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiong","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bingrui","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhao","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengmao","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingrui","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong-Hui","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhong Sheng","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgg.2018.09.002_bib1","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1097\/DBP.0b013e31826052ae","article-title":"15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features","volume":"33","author":"Abdelmoity","year":"2012","journal-title":"J.\u00a0Dev. Behav. Pediatr."},{"key":"10.1016\/j.jgg.2018.09.002_bib2","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1,092 human genomes","volume":"491","author":"Abecasis","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2018.09.002_bib3","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1101\/gr.114876.110","article-title":"CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing","volume":"21","author":"Abyzov","year":"2011","journal-title":"Genome Res."},{"key":"10.1016\/j.jgg.2018.09.002_bib4","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A\u00a0method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.jgg.2018.09.002_bib5","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002606","article-title":"The ciliogenic transcription factor RFX3 regulates early midline distribution of guidepost neurons required for corpus callosum development","volume":"8","author":"Benadiba","year":"2012","journal-title":"PLoS Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib6","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":"10.1016\/j.jgg.2018.09.002_bib7","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1016\/j.bbamcr.2012.12.015","article-title":"Three calcium-sensitive genes, fus, brd3 and wdr5, are highly expressed in neural and renal territories during amphibian development","volume":"1833","author":"Bibonne","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.jgg.2018.09.002_bib8","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/nature09327","article-title":"Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations","volume":"467","author":"Bilguvar","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2018.09.002_bib9","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/mp.2013.2","article-title":"Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci","volume":"19","author":"Borglum","year":"2014","journal-title":"Mol. Psychiatr."},{"key":"10.1016\/j.jgg.2018.09.002_bib10","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.ajhg.2016.02.018","article-title":"Frequency and complexity of de novo structural mutation in autism","volume":"98","author":"Brandler","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib11","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1385\/NMM:5:2:133","article-title":"Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease","volume":"5","author":"Busby","year":"2004","journal-title":"NeuroMolecular Med."},{"key":"10.1016\/j.jgg.2018.09.002_bib12","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/nmeth.1276","article-title":"High-resolution mapping of copy-number alterations with massively parallel sequencing","volume":"6","author":"Chiang","year":"2009","journal-title":"Nat. Methods"},{"key":"10.1016\/j.jgg.2018.09.002_bib13","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1002\/ajmg.b.32089","article-title":"Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement","volume":"159B","author":"Christofolini","year":"2012","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib14","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1001025","article-title":"Identifying a high fraction of the human genome to be under selective constraint using GERP plus","volume":"6","author":"Davydov","year":"2010","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.jgg.2018.09.002_bib15","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/nature13772","article-title":"Synaptic, transcriptional and chromatin genes disrupted in autism","volume":"515","author":"De Rubeis","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2018.09.002_bib16","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1002\/ajmg.a.32006","article-title":"A\u00a0case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q","volume":"143A","author":"Della Monica","year":"2007","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib17","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.molcel.2008.05.023","article-title":"Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation","volume":"31","author":"Ding","year":"2008","journal-title":"Mol. Cell"},{"key":"10.1016\/j.jgg.2018.09.002_bib18","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1126\/science.1181498","article-title":"Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays","volume":"327","author":"Drmanac","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.jgg.2018.09.002_bib19","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1136\/jmedgenet-2012-100831","article-title":"Homozygous deletion of Tenascin-R in a patient with intellectual disability","volume":"49","author":"Dufresne","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib20","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/nature11860","article-title":"Activity-dependent neuronal signalling and autism spectrum disorder","volume":"493","author":"Ebert","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2018.09.002_bib21","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.earlhumdev.2010.10.003","article-title":"Pattern visual evoked potential performance in preterm preschoolers with average intelligence quotients","volume":"87","author":"Feng","year":"2011","journal-title":"Early Hum. Dev."},{"key":"10.1016\/j.jgg.2018.09.002_bib22","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature11690","article-title":"Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants","volume":"493","author":"Fu","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2018.09.002_bib23","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.braindev.2013.10.006","article-title":"Disruption of Aspm causes microcephaly with abnormal neuronal differentiation","volume":"36","author":"Fujimori","year":"2014","journal-title":"Brain Dev."},{"key":"10.1016\/j.jgg.2018.09.002_bib24","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.ajhg.2012.12.016","article-title":"Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder","volume":"92","author":"Girirajan","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib25","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003671","article-title":"Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes","volume":"9","author":"He","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib26","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature13908","article-title":"The contribution of de novo coding mutations to autism spectrum disorder","volume":"515","author":"Iossifov","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2018.09.002_bib27","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.ajhg.2013.06.012","article-title":"Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing","volume":"93","author":"Jiang","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib28","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1111\/brv.12383","article-title":"Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome\/genome sequencing","volume":"93","author":"Jin","year":"2018","journal-title":"Biol. Rev. Camb. Philos. Soc."},{"key":"10.1016\/j.jgg.2018.09.002_bib29","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1038\/nature11396","article-title":"Rate of de novo mutations and the importance of father's age to disease risk","volume":"488","author":"Kong","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2018.09.002_bib30","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.tins.2013.11.005","article-title":"A\u00a0de novo convergence of autism genetics and molecular neuroscience","volume":"37","author":"Krumm","year":"2014","journal-title":"Trends Neurosci."},{"key":"10.1016\/j.jgg.2018.09.002_bib31","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":"10.1016\/j.jgg.2018.09.002_bib32","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002521","article-title":"Genetic and functional analyses of shank2 mutations suggest a multiple hit model of autism spectrum disorders","volume":"8","author":"Leblond","year":"2012","journal-title":"PLoS Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib33","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jgg.2018.09.002_bib34","doi-asserted-by":"crossref","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":"10.1016\/j.jgg.2018.09.002_bib35","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1136\/jmedgenet-2014-102656","article-title":"mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing","volume":"52","author":"Li","year":"2015","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib36","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.neuron.2012.12.029","article-title":"Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders","volume":"77","author":"Lim","year":"2013","journal-title":"Neuron"},{"key":"10.1016\/j.jgg.2018.09.002_bib37","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1016\/j.ridd.2009.06.003","article-title":"Intellectual disability and its relationship to autism spectrum disorders","volume":"30","author":"Matson","year":"2009","journal-title":"Res. Dev. Disabil."},{"key":"10.1016\/j.jgg.2018.09.002_bib38","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.jgg.2018.09.002_bib39","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1016\/j.cell.2012.11.019","article-title":"Whole-genome sequencing in autism identifies hot spots for de novo germline mutation","volume":"151","author":"Michaelson","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.jgg.2018.09.002_bib40","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1016\/j.neuron.2016.02.017","article-title":"Unifying views of autism spectrum disorders: a consideration of autoregulatory feedback loops","volume":"89","author":"Mullins","year":"2016","journal-title":"Neuron"},{"key":"10.1016\/j.jgg.2018.09.002_bib41","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1126\/science.1227764","article-title":"Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders","volume":"338","author":"O'Roak","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.jgg.2018.09.002_bib42","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.ejmg.2012.11.003","article-title":"Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder","volume":"56","author":"Petersen","year":"2013","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib43","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/nn.4524","article-title":"Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder","volume":"20","author":"RK","year":"2017","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.jgg.2018.09.002_bib44","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/dmcn.12278","article-title":"The genetic landscape of autism spectrum disorders","volume":"56","author":"Rosti","year":"2014","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.jgg.2018.09.002_bib45","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nn1211","article-title":"Tenascin-R mediates activity-dependent recruitment of neuroblasts in the adult mouse forebrain","volume":"7","author":"Saghatelyan","year":"2004","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.jgg.2018.09.002_bib46","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":"10.1016\/j.jgg.2018.09.002_bib47","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.neuron.2013.01.010","article-title":"Rare inherited variation in autism: beginning to see the forest and a few trees","volume":"77","author":"Stein","year":"2013","journal-title":"Neuron"},{"key":"10.1016\/j.jgg.2018.09.002_bib48","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.ajhg.2013.09.013","article-title":"The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies","volume":"93","author":"Steinberg","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib49","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1186\/1471-2350-12-154","article-title":"High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy","volume":"12","author":"Stewart","year":"2011","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib50","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1001\/jama.2015.10078","article-title":"Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder","volume":"314","author":"Tammimies","year":"2015","journal-title":"J.\u00a0Am. Med. Assoc."},{"key":"10.1016\/j.jgg.2018.09.002_bib51","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1111\/cge.12172","article-title":"Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory","volume":"85","author":"Tan","year":"2014","journal-title":"Clin. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib52","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1038\/mp.2013.106","article-title":"Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations","volume":"19","author":"Toma","year":"2014","journal-title":"Mol. Psychiatr."},{"key":"10.1016\/j.jgg.2018.09.002_bib53","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/j.cell.2017.08.047","article-title":"Genomic patterns of de novo mutation in simplex autism","volume":"171","author":"Turner","year":"2017","journal-title":"Cell"},{"key":"10.1016\/j.jgg.2018.09.002_bib54","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/aur.1284","article-title":"The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature","volume":"6","author":"Urraca","year":"2013","journal-title":"Autism Res."},{"key":"10.1016\/j.jgg.2018.09.002_bib55","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1038\/nrg.2017.4","article-title":"Autism genetics: opportunities and challenges for clinical translation","volume":"18","author":"Vorstman","year":"2017","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib56","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/nmeth.1628","article-title":"CREST maps somatic structural variation in cancer genomes with base-pair resolution","volume":"8","author":"Wang","year":"2011","journal-title":"Nat. Methods"},{"key":"10.1016\/j.jgg.2018.09.002_bib57","doi-asserted-by":"crossref","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":"10.1016\/j.jgg.2018.09.002_bib58","doi-asserted-by":"crossref","first-page":"4245","DOI":"10.1523\/JNEUROSCI.19-11-04245.1999","article-title":"Mice deficient for tenascin-R display alterations of the extracellular matrix and decreased axonal conduction velocities in the CNS","volume":"19","author":"Weber","year":"1999","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.jgg.2018.09.002_bib59","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/s13073-017-0498-x","article-title":"Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications","volume":"9","author":"Wilfert","year":"2017","journal-title":"Genome Med."},{"key":"10.1016\/j.jgg.2018.09.002_bib60","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1086\/510800","article-title":"CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1","volume":"80","author":"Winnepenninckx","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib61","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1016\/j.cell.2012.10.043","article-title":"Microcephaly gene links trithorax and REST\/NRSF to control neural stem cell proliferation and differentiation","volume":"151","author":"Yang","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.jgg.2018.09.002_bib62","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1002\/pd.4942","article-title":"Autism genetics - an overview","volume":"37","author":"Yin","year":"2017","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.jgg.2018.09.002_bib63","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.neuron.2012.11.002","article-title":"Using whole-exome sequencing to identify inherited causes of autism","volume":"77","author":"Yu","year":"2013","journal-title":"Neuron"},{"key":"10.1016\/j.jgg.2018.09.002_bib64","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/ng.683","article-title":"Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture","volume":"42","author":"Yu","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jgg.2018.09.002_bib65","doi-asserted-by":"crossref","first-page":"160271","DOI":"10.1038\/npjgenmed.2016.27","article-title":"Genome-wide characteristics of de novo mutations in autism","volume":"1","author":"Yuen","year":"2016","journal-title":"NPJ Genom. Med."},{"key":"10.1016\/j.jgg.2018.09.002_bib66","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/nm.3792","article-title":"Whole-genome sequencing of quartet families with autism spectrum disorder","volume":"21","author":"Yuen","year":"2015","journal-title":"Nat. Med."}],"container-title":["Journal of Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852718301759?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852718301759?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T11:30:21Z","timestamp":1761651021000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1673852718301759"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":66,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["S1673852718301759"],"URL":"https:\/\/doi.org\/10.1016\/j.jgg.2018.09.002","relation":{},"ISSN":["1673-8527"],"issn-type":[{"value":"1673-8527","type":"print"}],"subject":[],"published":{"date-parts":[[2018,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetics and Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgg.2018.09.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press.","name":"copyright","label":"Copyright"}]}}