{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:43:28Z","timestamp":1792665808608,"version":"4.5.0"},"reference-count":51,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T00:00:00Z","timestamp":1651104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T00:00:00Z","timestamp":1651104000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171454"],"award-info":[{"award-number":["82171454"]}],"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":["81671300"],"award-info":[{"award-number":["81671300"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2022,7]]},"DOI":"10.1002\/humu.24386","type":"journal-article","created":{"date-parts":[[2022,4,19]],"date-time":"2022-04-19T07:13:38Z","timestamp":1650352418000},"page":"940-949","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["<i>DNAH14<\/i>\n                    variants are associated with neurodevelopmental disorders"],"prefix":"10.1155","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1160-3013","authenticated-orcid":false,"given":"Juan","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University Changsha China"},{"name":"Clinical Research Center for Epileptic Disease of Hunan Province Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University Changsha China"},{"name":"Clinical Research Center for Epileptic Disease of Hunan Province Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaorong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University Changsha China"},{"name":"Clinical Research Center for Epileptic Disease of Hunan Province Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuchen","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University Changsha China"},{"name":"Clinical Research Center for Epileptic Disease of Hunan Province Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neng","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Chenzhou First People's Hospital Chenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyu","family":"Long","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University Changsha China"},{"name":"Clinical Research Center for Epileptic Disease of Hunan Province Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaohui","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University Changsha China"},{"name":"Clinical Research Center for Epileptic Disease of Hunan Province Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shujuan","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University Changsha China"},{"name":"Clinical Research Center for Epileptic Disease of Hunan Province Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Maternal, Child Health Hospital of Hunan Province Changsha China"},{"name":"National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment Hunan Provincial Maternal and Child Health Care Hospital Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University Changsha China"},{"name":"Clinical Research Center for Epileptic Disease of Hunan Province Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1455-0858","authenticated-orcid":false,"given":"Xiao","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Maternal, Child Health Hospital of Hunan Province Changsha China"},{"name":"National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment Hunan Provincial Maternal and Child Health Care Hospital Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Long","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University Changsha China"},{"name":"Clinical Research Center for Epileptic Disease of Hunan Province Central South University Changsha China"},{"name":"National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment Hunan Provincial Maternal and Child Health Care Hospital Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,28]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"1000Genome.https:\/\/www.1000genomes.org\/"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13438"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02153"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature16029"},{"key":"e_1_2_8_6_1","unstructured":"CADD.https:\/\/cadd.gs.washington.edu\/"},{"key":"e_1_2_8_7_1","unstructured":"DANN.https:\/\/cbcl.ics.uci.edu\/public_data\/DANN\/"},{"key":"e_1_2_8_8_1","unstructured":"dbSNP.https:\/\/www.ncbi.nlm.nih.gov\/snp"},{"key":"e_1_2_8_9_1","unstructured":"Eigen.https:\/\/www.columbia.edu\/%7Eii2135\/eigen.html"},{"key":"e_1_2_8_10_1","unstructured":"ESP6500.https:\/\/evs.gs.washington.edu\/EVS\/"},{"key":"e_1_2_8_11_1","unstructured":"ExAC.https:\/\/exac.broadinstitute.org\/"},{"key":"e_1_2_8_12_1","unstructured":"fathmm\u2010MKL.https:\/\/fathmm.biocompute.org.uk"},{"key":"e_1_2_8_13_1","unstructured":"GERP++.https:\/\/mendel.stanford.edu\/SidowLab\/downloads\/gerp\/index.html"},{"key":"e_1_2_8_14_1","unstructured":"gnomAD.https:\/\/gnomad.broadinstitute.org\/"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2021.02.006"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.08.016"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2004.12.070"},{"key":"e_1_2_8_18_1","unstructured":"InterPro.https:\/\/www.ebi.ac.uk\/interpro\/"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/wco.0000000000000710"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.3171\/2015.6.Jns15162"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12987-021-00265-0"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a53562"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2009.11.009"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1039"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/s2213-2600(19)30374-1"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn3921"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.26.041002.131058"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awf182"},{"key":"e_1_2_8_29_1","unstructured":"M\u2010CAP.https:\/\/bejerano.stanford.edu\/MCAP"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1106"},{"key":"e_1_2_8_31_1","unstructured":"Mutation Taster.https:\/\/www.mutationtaster.org"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033001"},{"key":"e_1_2_8_33_1","unstructured":"PhyloP.https:\/\/compgen.bscb.cornell.edu\/phast"},{"key":"e_1_2_8_34_1","unstructured":"PolyPhen\u20102.https:\/\/genetics.bwh.harvard.edu\/pph2"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0955-0674(96)80042-1"},{"key":"e_1_2_8_36_1","unstructured":"PROVEAN.https:\/\/provean.jcvi.org\/"},{"key":"e_1_2_8_37_1","unstructured":"REVEL.https:\/\/sites.google.com\/site\/revelgenomics\/"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1119133"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-015-0681-6"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-018-9256-7"},{"key":"e_1_2_8_42_1","unstructured":"SIFT.https:\/\/sift.jcvi.org"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1098\/rsif.2013.1189"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.21"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.12.126"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-79202-4"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp006"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/s2215-0366(16)30376-5"},{"key":"e_1_2_8_49_1","unstructured":"VarCards.https:\/\/varcards.biols.ac.cn\/"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0422"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1136\/neurintsurg-2020-016469"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz923"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24386","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24386","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24386","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:56:08Z","timestamp":1672314968000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,28]]},"references-count":51,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1002\/humu.24386"],"URL":"https:\/\/doi.org\/10.1002\/humu.24386","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,28]]},"assertion":[{"value":"2021-12-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}