{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T23:30:58Z","timestamp":1791415858274,"version":"4.3.3"},"reference-count":60,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,11,4]],"date-time":"2023-11-04T00:00:00Z","timestamp":1699056000000},"content-version":"vor","delay-in-days":187,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["S10-RR021228"],"award-info":[{"award-number":["S10-RR021228"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["MH114601"],"award-info":[{"award-number":["MH114601"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1016\/j.ajhg.2023.03.015","type":"journal-article","created":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T10:32:18Z","timestamp":1682332338000},"page":"826-845","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":34,"title":["Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis"],"prefix":"10.1016","volume":"110","author":[{"given":"Shuai","family":"Fu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke A.D.","family":"Bury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaejin","family":"Eum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2780-1540","authenticated-orcid":false,"given":"Anthony","family":"Wynshaw-Boris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2023.03.015_bib1","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.conb.2007.01.009","article-title":"Autism spectrum disorders: developmental disconnection syndromes","volume":"17","author":"Geschwind","year":"2007","journal-title":"Curr. Opin. Neurobiol."},{"key":"10.1016\/j.ajhg.2023.03.015_bib2","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1242\/dmm.005439","article-title":"SFARI Gene: an evolving database for the autism research community","volume":"3","author":"Banerjee-Basu","year":"2010","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.ajhg.2023.03.015_bib3","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/2040-2392-4-36","article-title":"SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)","volume":"4","author":"Abrahams","year":"2013","journal-title":"Mol. Autism."},{"key":"10.1016\/j.ajhg.2023.03.015_bib4","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/nm.4071","article-title":"Advancing the understanding of autism disease mechanisms through genetics","volume":"22","author":"de la Torre-Ubieta","year":"2016","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2023.03.015_bib5","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1023\/A:1023036509476","article-title":"Microcephaly and Macrocephaly in Autism","volume":"29","author":"Fombonne","year":"1999","journal-title":"J.\u00a0Autism Dev. Disord."},{"key":"10.1016\/j.ajhg.2023.03.015_bib6","doi-asserted-by":"crossref","first-page":"20195","DOI":"10.1073\/pnas.1107560108","article-title":"Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders","volume":"108","author":"Nordahl","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2023.03.015_bib7","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1136\/jmg.2004.024646","article-title":"Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations","volume":"42","author":"Butler","year":"2005","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2023.03.015_bib8","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1086\/340026","article-title":"Protean PTEN: form and function","volume":"70","author":"Waite","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2023.03.015_bib9","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1172\/JCI121277","article-title":"PTEN-opathies: from biological insights to evidence-based precision medicine","volume":"129","author":"Yehia","year":"2019","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ajhg.2023.03.015_bib10","doi-asserted-by":"crossref","first-page":"4132","DOI":"10.1093\/hmg\/ddr337","article-title":"A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes","volume":"20","author":"Rodr\u00edguez-Escudero","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2023.03.015_bib11","doi-asserted-by":"crossref","first-page":"e17073","DOI":"10.1371\/journal.pone.0017073","article-title":"Genetic-Background Modulation of Core and Variable Autistic-Like Symptoms in Fmr1 Knock-Out Mice","volume":"6","author":"Pietropaolo","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2023.03.015_bib12","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1073\/pnas.1919695117","article-title":"Functional testing of ASD-associated genes","volume":"117","author":"Sokolowski","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2023.03.015_bib13","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/nature12517","article-title":"Cerebral organoids model human brain development and microcephaly","volume":"501","author":"Lancaster","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.03.015_bib14","doi-asserted-by":"crossref","first-page":"20284","DOI":"10.1073\/pnas.1315710110","article-title":"Self-organization of axial polarity, inside-out layer pattern, and species-specific progenitor dynamics in human ES cell\u2013derived neocortex","volume":"110","author":"Kadoshima","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2023.03.015_bib15","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nmeth.3415","article-title":"Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture","volume":"12","author":"Pa\u015fca","year":"2015","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2023.03.015_bib16","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1038\/mp.2016.95","article-title":"Altered proliferation and networks in neural cells derived from idiopathic autistic individuals","volume":"22","author":"Marchetto","year":"2017","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.ajhg.2023.03.015_bib17","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.stem.2016.12.007","article-title":"Human iPSC-derived cerebral organoids model cellular features of lissencephaly and reveal prolonged mitosis of outer radial glia","volume":"20","author":"Bershteyn","year":"2017","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.ajhg.2023.03.015_bib18","doi-asserted-by":"crossref","first-page":"dev156166","DOI":"10.1242\/dev.156166","article-title":"Modeling human diseases with induced pluripotent stem cells: from 2D to 3D and beyond","volume":"145","author":"Liu","year":"2018","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2023.03.015_bib19","doi-asserted-by":"crossref","first-page":"15672","DOI":"10.1073\/pnas.1520760112","article-title":"Human cerebral organoids recapitulate gene expression programs of fetal neocortex development","volume":"112","author":"Camp","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2023.03.015_bib20","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1038\/s41586-019-1289-x","article-title":"Individual brain organoids reproducibly form cell diversity of the human cerebral cortex","volume":"570","author":"Velasco","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.03.015_bib21","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1016\/j.cell.2013.08.021","article-title":"Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity","volume":"154","author":"Ran","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2023.03.015_bib22","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1038\/nmeth902","article-title":"Feeder-independent culture of human embryonic stem cells","volume":"3","author":"Ludwig","year":"2006","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2023.03.015_bib23","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/nmeth.1318","article-title":"Enzymatic assembly of DNA molecules up to several hundred kilobases","volume":"6","author":"Gibson","year":"2009","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2023.03.015_bib24","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1038\/nbt.3583","article-title":"Analyzing CRISPR genome-editing experiments with CRISPResso","volume":"34","author":"Pinello","year":"2016","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2023.03.015_bib25","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/nbt.3519","article-title":"Near-optimal probabilistic RNA-seq quantification","volume":"34","author":"Bray","year":"2016","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2023.03.015_bib26","series-title":"Differential analyses for RNA-seq: transcript-level estimates improve gene-level inferences","author":"Soneson","year":"2016"},{"key":"10.1016\/j.ajhg.2023.03.015_bib27","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","article-title":"edgeR: a Bioconductor package for differential expression analysis of digital gene expression data","volume":"26","author":"Robinson","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2023.03.015_bib28","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1093\/nar\/gkv007","article-title":"limma powers differential expression analyses for RNA-sequencing and microarray studies","volume":"43","author":"Ritchie","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2023.03.015_bib29","first-page":"100141","article-title":"clusterProfiler 4.0: A universal enrichment tool for interpreting omics data","volume":"2","author":"Wu","year":"2021","journal-title":"Innovation"},{"key":"10.1016\/j.ajhg.2023.03.015_bib30","first-page":"56768","article-title":"Generation of standardized and reproducible forebrain-type cerebral organoids from human induced pluripotent stem cells","volume":"23","author":"Krefft","year":"2018","journal-title":"J.\u00a0Vis. Exp."},{"key":"10.1016\/j.ajhg.2023.03.015_bib31","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.celrep.2017.03.047","article-title":"an organoid-based model of cortical development identifies non-cell-autonomous defects in wnt signaling contributing to miller-dieker syndrome","volume":"19","author":"Iefremova","year":"2017","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2023.03.015_bib32","doi-asserted-by":"crossref","first-page":"3573","DOI":"10.1016\/j.cell.2021.04.048","article-title":"Integrated analysis of multimodal single-cell data","volume":"184","author":"Hao","year":"2021","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2023.03.015_bib33","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s13059-021-02584-9","article-title":"Comparison and evaluation of statistical error models for scRNA-seq","volume":"23","author":"Choudhary","year":"2022","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2023.03.015_bib34","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1126\/science.aap8809","article-title":"Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex","volume":"358","author":"Nowakowski","year":"2017","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2023.03.015_bib35","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1038\/s41586-019-0969-x","article-title":"The single-cell transcriptional landscape of mammalian organogenesis","volume":"566","author":"Cao","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.03.015_bib36","doi-asserted-by":"crossref","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2023.03.015_bib37","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/ng1180","article-title":"PGC-1\u03b1-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes","volume":"34","author":"Mootha","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2023.03.015_bib38","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1016\/j.neuron.2016.09.005","article-title":"Transformation of the radial glia scaffold demarcates two stages of human cerebral cortex development","volume":"91","author":"Nowakowski","year":"2016","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2023.03.015_bib39","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1038\/s41586-020-1962-0","article-title":"Cell stress in cortical organoids impairs molecular subtype specification","volume":"578","author":"Bhaduri","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.03.015_bib40","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/j.cell.2019.01.017","article-title":"Establishing cerebral organoids as models of human-specific brain evolution","volume":"176","author":"Pollen","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2023.03.015_bib41","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1038\/s41586-019-1654-9","article-title":"Organoid single-cell genomic atlas uncovers human-specific features of brain development","volume":"574","author":"Kanton","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.03.015_bib42","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/ng0894-513","article-title":"Identification and characterization of the gene causing type 1 spinocerebellar ataxia","volume":"7","author":"Banfi","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2023.03.015_bib43","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s10555-007-9107-6","article-title":"The Met tyrosine kinase receptor in development and cancer","volume":"27","author":"Gentile","year":"2008","journal-title":"Cancer Metastasis Rev."},{"key":"10.1016\/j.ajhg.2023.03.015_bib44","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/ana.21180","article-title":"Disruption of cerebral cortex MET signaling in autism spectrum disorder","volume":"62","author":"Campbell","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2023.03.015_bib45","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.pharmthera.2017.02.006","article-title":"Targeting TRK family proteins in cancer","volume":"173","author":"Khotskaya","year":"2017","journal-title":"Pharmacol. Ther."},{"key":"10.1016\/j.ajhg.2023.03.015_bib46","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.neuropharm.2012.08.015","article-title":"The involvement of Reelin in neurodevelopmental disorders","volume":"68","author":"Folsom","year":"2013","journal-title":"Neuropharmacology"},{"key":"10.1016\/j.ajhg.2023.03.015_bib47","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.brainresbull.2016.10.006","article-title":"Distortion of the normal function of synaptic cell adhesion molecules by genetic variants as a risk for autism spectrum disorders","volume":"129","author":"Baig","year":"2017","journal-title":"Brain Res. Bull."},{"key":"10.1016\/j.ajhg.2023.03.015_bib48","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/j.ajhg.2013.02.005","article-title":"Mutations in lamb1 cause cobblestone brain malformation without muscular or ocular abnormalities","volume":"92","author":"Radmanesh","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2023.03.015_bib49","doi-asserted-by":"crossref","first-page":"11005","DOI":"10.3390\/ijms231911005","article-title":"Genetics of obesity in humans: a clinical review","volume":"23","author":"Mahmoud","year":"2022","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ajhg.2023.03.015_bib50","doi-asserted-by":"crossref","first-page":"4926","DOI":"10.1007\/s12035-022-02889-1","article-title":"Interactions among brain-derived neurotrophic factor and neuroimmune pathways are key components of the major psychiatric disorders","volume":"59","author":"Mehterov","year":"2022","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.ajhg.2023.03.015_bib51","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1093\/oxfordjournals.jbchem.a003272","article-title":"Protein kinase C\u03b1 (PKC\u03b1): regulation and biological function","volume":"132","author":"Nakashima","year":"2002","journal-title":"J.\u00a0Biochem."},{"key":"10.1016\/j.ajhg.2023.03.015_bib52","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.ajhg.2015.11.023","article-title":"Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA","volume":"98","author":"Turner","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2023.03.015_bib53","first-page":"2709","article-title":"Tie-2 is expressed on thyroid follicular cells, is increased in goiter, and is regulated by thyrotropin through cyclic adenosine 3\u2032,5\u2032-monophosphate1","volume":"86","author":"Ramsden","year":"2001","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2023.03.015_bib54","doi-asserted-by":"crossref","first-page":"281","DOI":"10.31887\/DCNS.2012.14.3\/pchaste","article-title":"Autism risk factors: genes, environment, and gene-environment interactions","volume":"14","author":"Chaste","year":"2012","journal-title":"Dialogues Clin. Neurosci."},{"key":"10.1016\/j.ajhg.2023.03.015_bib55","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/s41586-021-04358-6","article-title":"Autism genes converge on asynchronous development of shared neuron classes","volume":"602","author":"Paulsen","year":"2022","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.03.015_bib56","first-page":"904","article-title":"A general framework for identifying oligogenic combinations of rare variants in complex disorders","volume":"32","author":"Pounraja","year":"2022","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2023.03.015_bib57","doi-asserted-by":"crossref","first-page":"3366","DOI":"10.1093\/hmg\/ddr243","article-title":"Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders","volume":"20","author":"Schaaf","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2023.03.015_bib58","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/s41398-022-01997-9","article-title":"Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder","volume":"12","author":"Teles e Silva","year":"2022","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.ajhg.2023.03.015_bib59","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1001\/jama.2011.1638","article-title":"Neuron number and size in prefrontal cortex of children with autism","volume":"306","author":"Courchesne","year":"2011","journal-title":"JAMA"},{"key":"10.1016\/j.ajhg.2023.03.015_bib60","doi-asserted-by":"crossref","first-page":"108788","DOI":"10.1016\/j.celrep.2021.108788","article-title":"Heterogeneity of glial progenitor cells during the neurogenesis-to-gliogenesis switch in the developing human cerebral cortex","volume":"34","author":"Fu","year":"2021","journal-title":"Cell Rep."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292972300099X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292972300099X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,11]],"date-time":"2024-05-11T07:58:57Z","timestamp":1715414337000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292972300099X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":60,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["S000292972300099X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.03.015","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.742623763.793598587","asserted-by":"object"}],"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.11.15.516317","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.03.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}