{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T14:35:43Z","timestamp":1782398143407,"version":"3.54.5"},"reference-count":40,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T00:00:00Z","timestamp":1620172800000},"content-version":"vor","delay-in-days":185,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100002822","name":"Central South University","doi-asserted-by":"publisher","award":["2020CX042"],"award-info":[{"award-number":["2020CX042"]}],"id":[{"id":"10.13039\/501100002822","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["310030_185292"],"award-info":[{"award-number":["310030_185292"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"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":["81871079"],"award-info":[{"award-number":["81871079"]}],"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":["81671122"],"award-info":[{"award-number":["81671122"]}],"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":["8173000779"],"award-info":[{"award-number":["8173000779"]}],"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\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000011","name":"Howard Hughes Medical Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["MH101221"],"award-info":[{"award-number":["MH101221"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004752","name":"State Government of Victoria","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004752","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007457","name":"JPB Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007457","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000016","name":"U.S. Department of Health and Human Services","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000016","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":[[2020,11]]},"DOI":"10.1016\/j.ajhg.2020.10.002","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T16:32:59Z","timestamp":1604593979000},"page":"963-976","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":39,"title":["NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism"],"prefix":"10.1016","volume":"107","author":[{"given":"Hui","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiumeng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rujia","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendra","family":"Hoekzema","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieqiong","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Senwei","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangbin","family":"Jia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Hernan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahood","family":"Alsulaiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad A.","family":"Al-Muhaizea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Pons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Labalme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Laux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Bryant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha J.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Savva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Ayres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhamidhu","family":"Eratne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde","family":"Peeters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Bilan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucile","family":"Letienne-Cejudo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Gilbert-Dussardier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inge-Lore","family":"Ruiz-Arana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny Meylan","family":"Merlini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexia","family":"Boizot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Bartoloni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Santoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Karlowicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"McDonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huidan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengmao","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guodong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianjun","family":"Ou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Brasch-Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina R.","family":"Fagerberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inken","family":"Dreyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"chun-hui Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Slegesky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rose B.","family":"McGee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brina","family":"Daniels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Sellars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lori A.","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradley","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J. Guillen","family":"Sacoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"Begtrup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhonda E.","family":"Schnur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumit","family":"Punj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.","family":"Wentzensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay","family":"Rhodes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael A.","family":"Bernier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan E.","family":"Eichler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2020.10.002_bib1","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.ajhg.2020.10.002_bib2","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.ajhg.2020.10.002_bib3","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.cell.2019.12.036","article-title":"Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism","volume":"180","author":"Satterstrom","year":"2020","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2020.10.002_bib4","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/S0140-6736(13)61539-1","article-title":"Autism","volume":"383","author":"Lai","year":"2014","journal-title":"Lancet"},{"key":"10.1016\/j.ajhg.2020.10.002_bib5","doi-asserted-by":"crossref","first-page":"477","DOI":"10.3389\/fnins.2015.00477","article-title":"Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology","volume":"9","author":"Barnard","year":"2015","journal-title":"Front. Neurosci."},{"key":"10.1016\/j.ajhg.2020.10.002_bib6","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/ng.2899","article-title":"A SWI\/SNF-related autism syndrome caused by de novo mutations in ADNP","volume":"46","author":"Helsmoortel","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.10.002_bib7","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/mp.2015.5","article-title":"Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID","volume":"21","author":"van Bon","year":"2016","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.ajhg.2020.10.002_bib8","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/j.ajhg.2016.02.004","article-title":"Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders","volume":"98","author":"Stessman","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.10.002_bib9","doi-asserted-by":"crossref","first-page":"4679","DOI":"10.1038\/s41467-019-12435-8","article-title":"Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders","volume":"10","author":"Guo","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2020.10.002_bib10","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.neuron.2007.04.016","article-title":"Nap1-regulated neuronal cytoskeletal dynamics is essential for the final differentiation of neurons in cerebral cortex","volume":"54","author":"Yokota","year":"2007","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2020.10.002_bib11","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1186\/s13229-018-0247-z","article-title":"Inherited and multiple de novo mutations in autism\/developmental delay risk genes suggest a multifactorial model","volume":"9","author":"Guo","year":"2018","journal-title":"Mol. Autism"},{"key":"10.1016\/j.ajhg.2020.10.002_bib12","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1007\/s00439-017-1843-2","article-title":"Expanding the genetic heterogeneity of intellectual disability","volume":"136","author":"Anazi","year":"2017","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.10.002_bib13","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1016\/j.cell.2019.07.015","article-title":"Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks","volume":"178","author":"Ruzzo","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2020.10.002_bib14","doi-asserted-by":"crossref","first-page":"e1003671","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.ajhg.2020.10.002_bib15","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1038\/ng.3050","article-title":"A framework for the interpretation of de novo mutation in human disease","volume":"46","author":"Samocha","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.10.002_bib16","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.2020.10.002_bib17","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":"C Yuen","year":"2017","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.ajhg.2020.10.002_bib18","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1038\/s41431-018-0331-z","article-title":"Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures","volume":"27","author":"Zweier","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.10.002_bib19","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1002\/ana.25208","article-title":"De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy","volume":"83","author":"Nakashima","year":"2018","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2020.10.002_bib20","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1002\/humu.22858","article-title":"The Matchmaker Exchange: a platform for rare disease gene discovery","volume":"36","author":"Philippakis","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2020.10.002_bib21","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1038\/ng.3638","article-title":"Patterns of genic intolerance of rare copy number variation in 59,898 human exomes","volume":"48","author":"Ruderfer","year":"2016","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.10.002_bib22","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2020.10.002_bib23","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2020.10.002_bib24","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/ng.3792","article-title":"Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases","volume":"49","author":"Stessman","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.10.002_bib25","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: Predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2020.10.002_bib26","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2020.10.002_bib27","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"issue":"D1","key":"10.1016\/j.ajhg.2020.10.002_bib28","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2020.10.002_bib29","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."},{"key":"10.1016\/j.ajhg.2020.10.002_bib30","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/j.jacbts.2020.01.012","article-title":"Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects","volume":"5","author":"Edwards","year":"2020","journal-title":"JACC Basic Transl. Sci."},{"key":"10.1016\/j.ajhg.2020.10.002_bib31","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1126\/science.aac9396","article-title":"De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies","volume":"350","author":"Homsy","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2020.10.002_bib32","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/1744-859X-12-31","article-title":"Dysfunction of orbitofrontal and dorsolateral prefrontal cortices in children and adolescents with high-functioning pervasive developmental disorders","volume":"12","author":"Sawa","year":"2013","journal-title":"Ann. Gen. Psychiatry"},{"key":"10.1016\/j.ajhg.2020.10.002_bib33","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1038\/ng.3303","article-title":"Excess of rare, inherited truncating mutations in autism","volume":"47","author":"Krumm","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.10.002_bib34","article-title":"Recent ultra-rare inherited mutations identify novel autism candidate risk genes","author":"Wilfert","year":"2020","journal-title":"bioRxiv"},{"key":"10.1016\/j.ajhg.2020.10.002_bib35","doi-asserted-by":"crossref","first-page":"4427","DOI":"10.1242\/dev.00663","article-title":"Kette regulates actin dynamics and genetically interacts with Wave and Wasp","volume":"130","author":"Bogdan","year":"2003","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2020.10.002_bib36","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gad.14.7.863","article-title":"The Drosophila HEM-2\/NAP1 homolog KETTE controls axonal pathfinding and cytoskeletal organization","volume":"14","author":"Hummel","year":"2000","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2020.10.002_bib37","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/nature00859","article-title":"Mechanism of regulation of WAVE1-induced actin nucleation by Rac1 and Nck","volume":"418","author":"Eden","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2020.10.002_bib38","doi-asserted-by":"crossref","first-page":"10252","DOI":"10.1523\/JNEUROSCI.5272-14.2015","article-title":"Pten Mutations Alter Brain Growth Trajectory and Allocation of Cell Types through Elevated \u03b2-Catenin Signaling","volume":"35","author":"Chen","year":"2015","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ajhg.2020.10.002_bib39","doi-asserted-by":"crossref","first-page":"4692","DOI":"10.1038\/ncomms5692","article-title":"Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology","volume":"5","author":"Orosco","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2020.10.002_bib40","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.devcel.2013.04.005","article-title":"Chromatin regulation by BAF170 controls cerebral cortical size and thickness","volume":"25","author":"Tuoc","year":"2013","journal-title":"Dev. Cell"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929720303608?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929720303608?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:44:57Z","timestamp":1777376697000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929720303608"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":40,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["S0002929720303608"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2020.10.002","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism","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.2020.10.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}