{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:29:33Z","timestamp":1790400573818,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,1,11]],"date-time":"2018-01-11T00:00:00Z","timestamp":1515628800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,1,11]],"date-time":"2018-01-11T00:00:00Z","timestamp":1515628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007460","name":"Arvid Nilssons Fond","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007460","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2012-1526"],"award-info":[{"award-number":["2012-1526"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003748","name":"Svenska S\u00e4llskapet f\u00f6r Medicinsk Forskning","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003748","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011898","name":"Marianne and Marcus Wallenberg Foundation","doi-asserted-by":"crossref","award":["2014.0084"],"award-info":[{"award-number":["2014.0084"]}],"id":[{"id":"10.13039\/501100011898","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003514","name":"Kommunfullm\u00e4ktige, Stockholms Stad","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003514","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Harald and Greta Jeanssons foundation"},{"DOI":"10.13039\/501100003792","name":"Hj\u00e4rnfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003792","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Nilsson Ehle Donations"},{"name":"Erik R\u00f6nnberg Foundation"},{"DOI":"10.13039\/501100004063","name":"Knut och Alice Wallenbergs Stiftelse","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1002\/humu.23388","type":"journal-article","created":{"date-parts":[[2017,12,29]],"date-time":"2017-12-29T02:22:46Z","timestamp":1514514166000},"page":"495-505","source":"Crossref","is-referenced-by-count":18,"title":["Targeted copy number screening highlights an intragenic deletion of <i>WDR63<\/i>\n as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish"],"prefix":"10.1155","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6306-9262","authenticated-orcid":false,"given":"Wolfgang","family":"Hofmeister","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden"},{"name":"Centre of Molecular Medicine; Karolinska Institutet; Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Pettersson","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden"},{"name":"Centre of Molecular Medicine; Karolinska Institutet; Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Kurtoglu","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden"},{"name":"Centre of Molecular Medicine; Karolinska Institutet; Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Armenio","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden"},{"name":"Centre of Molecular Medicine; Karolinska Institutet; Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesper","family":"Eisfeldt","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden"},{"name":"Centre of Molecular Medicine; Karolinska Institutet; Stockholm Sweden"},{"name":"Science for Life Laboratory; Karolinska Institutet Science Park; Solna Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikos","family":"Papadogiannakis","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine; Division of Pathology; Karolinska Institutet; Huddinge Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Gustavsson","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden"},{"name":"Centre of Molecular Medicine; Karolinska Institutet; Stockholm Sweden"},{"name":"Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Lindstrand","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden"},{"name":"Centre of Molecular Medicine; Karolinska Institutet; Stockholm Sweden"},{"name":"Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,11]]},"reference":[{"key":"10.1002\/humu.23388-BIB0001|humu23388-cit-0001","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1387\/ijdb.072477ea","article-title":"Isolation and expression analysis of foxj1 and foxj1.2 in zebrafish embryos","volume":"52","author":"Aamar","year":"2008","journal-title":"International Journal of Developmental Biology"},{"key":"10.1002\/humu.23388-BIB0002|humu23388-cit-0002","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1242\/dev.074666","article-title":"Switching on cilia: Transcriptional networks regulating ciliogenesis","volume":"141","author":"Choksi","year":"2014","journal-title":"Development"},{"key":"10.1002\/humu.23388-BIB0003|humu23388-cit-0003","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1038\/nature04375","article-title":"Planar cell polarity signalling couples cell division and morphogenesis during neurulation","volume":"439","author":"Ciruna","year":"2006","journal-title":"Nature"},{"key":"10.1002\/humu.23388-BIB0004|humu23388-cit-0004","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1002\/ajmg.a.37666","article-title":"Is 1p36 deletion associated with anterior body wall defects?","volume":"170","author":"\u00c7\u00f6ll\u00fc","year":"2016","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23388-BIB0005|humu23388-cit-0005","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng770","article-title":"Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski\u2212\/\u2212 mice","volume":"30","author":"Colmenares","year":"2002","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23388-BIB0006|humu23388-cit-0006","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1126\/science.1262110","article-title":"The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans","volume":"348","author":"Consortium Gte","year":"2015","journal-title":"Science"},{"key":"10.1002\/humu.23388-BIB0007|humu23388-cit-0007","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/wdev.71","article-title":"Neural tube defects-disorders of neurulation and related embryonic processes","volume":"2","author":"Copp","year":"2013","journal-title":"Wiley Interdisciplinary Reviews: Developmental Biology"},{"key":"10.1002\/humu.23388-BIB0008|humu23388-cit-0008","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/nature04117","article-title":"Vertebrate Smoothened functions at the primary cilium","volume":"437","author":"Corbit","year":"2005","journal-title":"Nature"},{"key":"10.1002\/humu.23388-BIB0009|humu23388-cit-0009","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ncb1670","article-title":"Kif3a constrains \u03b2-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms","volume":"10","author":"Corbit","year":"2008","journal-title":"Nature Cell Biology"},{"key":"10.1002\/humu.23388-BIB0010|humu23388-cit-0010","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ng2039","article-title":"The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome","volume":"39","author":"Delous","year":"2007","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23388-BIB0011|humu23388-cit-0011","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.joen.2014.09.027","article-title":"Enriched trimethylation of lysine 4 of histone H3 of WDR63 enhanced osteogenic differentiation potentials of stem cells from apical papilla","volume":"41","author":"Diao","year":"2015","journal-title":"Journal of Endodontics"},{"key":"10.1002\/humu.23388-BIB0012|humu23388-cit-0012","doi-asserted-by":"crossref","first-page":"664","DOI":"10.12688\/f1000research.11168.2","article-title":"TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data","volume":"6","author":"Eisfeldt","year":"2017","journal-title":"F1000Research"},{"key":"10.1002\/humu.23388-BIB0013|humu23388-cit-0013","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/j.ydbio.2007.12.006","article-title":"Zic1 and Zic4 regulate zebrafish roof plate specification and hindbrain ventricle morphogenesis","volume":"314","author":"Elsen","year":"2008","journal-title":"Developmental Biology"},{"key":"10.1002\/humu.23388-BIB0014|humu23388-cit-0014","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1002\/pd.1970060204","article-title":"Neural tube defects in trisomy 18","volume":"6","author":"Flannery","year":"1986","journal-title":"Prenatal Diagnosis"},{"key":"10.1002\/humu.23388-BIB0015|humu23388-cit-0015","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1242\/dmm.024109","article-title":"A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure","volume":"9","author":"Fong","year":"2016","journal-title":"Disease Models and Mechanisms"},{"key":"10.1002\/humu.23388-BIB0016|humu23388-cit-0016","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1146\/annurev-genom-091212-153509","article-title":"Selection and adaptation in the human genome","volume":"14","author":"Fu","year":"2013","journal-title":"Annual Review of Genomics and Human Genetics"},{"key":"10.1002\/humu.23388-BIB0017|humu23388-cit-0017","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S0925-4773(98)00029-X","article-title":"Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: A model of severe neural tube defects","volume":"73","author":"Greene","year":"1998","journal-title":"Mechanisms of Development"},{"key":"10.1002\/humu.23388-BIB0018|humu23388-cit-0018","doi-asserted-by":"crossref","first-page":"3265","DOI":"10.1016\/j.bbamcr.2013.09.011","article-title":"The IC138 and IC140 intermediate chains of the I1 axonemal dynein complex bind directly to tubulin","volume":"1833","author":"Hendrickson","year":"2013","journal-title":"Biochimica et Biophysica Acta (BBA) - Molecular Cell Research"},{"key":"10.1002\/humu.23388-BIB0019|humu23388-cit-0019","doi-asserted-by":"crossref","first-page":"5431","DOI":"10.1091\/mbc.e04-08-0694","article-title":"IC138 is a WD-repeat dynein intermediate chain required for light chain assembly and regulation of flagellar bending","volume":"15","author":"Hendrickson","year":"2004","journal-title":"Molecular Biology of the Cell"},{"key":"10.1002\/humu.23388-BIB0020|humu23388-cit-0020","doi-asserted-by":"crossref","first-page":"13904","DOI":"10.1073\/pnas.1308335110","article-title":"Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system","volume":"110","author":"Jao","year":"2013","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1002\/humu.23388-BIB0021|humu23388-cit-0021","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.neuron.2015.09.048","article-title":"Genes that affect brain structure and function identified by rare variant analyses of mendelian neurologic disease","volume":"88","author":"Karaca","year":"2015","journal-title":"Neuron"},{"key":"10.1002\/humu.23388-BIB0022|humu23388-cit-0022","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":"10.1002\/humu.23388-BIB0023|humu23388-cit-0023","doi-asserted-by":"crossref","first-page":"2701","DOI":"10.1002\/ajmg.a.36701","article-title":"Neural tube defects and atypical deletion on 22q11.2","volume":"164","author":"Leoni","year":"2014","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23388-BIB0024|humu23388-cit-0024","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.ajhg.2014.03.017","article-title":"Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl Syndrome","volume":"94","author":"Lindstrand","year":"2014","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23388-BIB0025|humu23388-cit-0025","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/j.ajhg.2015.04.023","article-title":"Copy-number variation contributes to the mutational load of Bardet-Biedl syndrome","volume":"99","author":"Lindstrand","year":"2016","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23388-BIB0026|humu23388-cit-0026","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1002\/em.21943","article-title":"Structural variation mutagenesis of the human genome: Impact on disease and evolution: Mutagenesis of the human genome","volume":"56","author":"Lupski","year":"2015","journal-title":"Environmental and Molecular Mutagenesis"},{"key":"10.1002\/humu.23388-BIB0027|humu23388-cit-0027","doi-asserted-by":"crossref","DOI":"10.3389\/fncel.2015.00039","article-title":"Cilia in the choroid plexus: Their roles in hydrocephalus and beyond","volume":"9","author":"Narita","year":"2015","journal-title":"Frontiers in Cellular Neuroscience"},{"key":"10.1002\/humu.23388-BIB0028|humu23388-cit-0028","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.cell.2009.10.036","article-title":"Centrioles, centrosomes, and cilia in health and disease","volume":"139","author":"Nigg","year":"2009","journal-title":"Cell"},{"key":"10.1002\/humu.23388-BIB0029|humu23388-cit-0029","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1086\/421846","article-title":"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome","volume":"75","author":"Parisi","year":"2004","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23388-BIB0030|humu23388-cit-0030","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1136\/jmg.2005.033001","article-title":"Identification of predicted human outer dynein arm genes: Candidates for primary ciliary dyskinesia genes","volume":"43","author":"Pazour","year":"2005","journal-title":"Journal of Medical Genetics"},{"key":"10.1002\/humu.23388-BIB0031|humu23388-cit-0031","doi-asserted-by":"crossref","first-page":"3351","DOI":"10.1091\/mbc.9.12.3351","article-title":"The Chlamydomonas IDA7 locus encodes a 140-kDa dynein intermediate chain required to assemble the I1 inner arm complex","volume":"9","author":"Perrone","year":"1998","journal-title":"Molecular Biology of the Cell"},{"key":"10.1002\/humu.23388-BIB0032|humu23388-cit-0032","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/ajmg.1320360429","article-title":"Trisomy 13 syndrome and neural tube defects","volume":"36","author":"Rodr\u00edguez","year":"1990","journal-title":"American Journal of Medical Genetics"},{"key":"10.1002\/humu.23388-BIB0033|humu23388-cit-0033","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":"Nature Genetics"},{"key":"10.1002\/humu.23388-BIB0034|humu23388-cit-0034","doi-asserted-by":"crossref","DOI":"10.1186\/s11689-016-9144-y","article-title":"Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs","volume":"8","author":"Schumann","year":"2016","journal-title":"Journal of Neurodevelopmental Disorder"},{"key":"10.1002\/humu.23388-BIB0035|humu23388-cit-0035","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nprot.2007.514","article-title":"High-resolution in situ hybridization to whole-mount zebrafish embryos","volume":"3","author":"Thisse","year":"2008","journal-title":"Nature Protocols"},{"key":"10.1002\/humu.23388-BIB0036|humu23388-cit-0036","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/nrneurol.2013.247","article-title":"Primary cilia in neurodevelopmental disorders","volume":"10","author":"Valente","year":"2013","journal-title":"Nature Reviews Neurology"},{"key":"10.1002\/humu.23388-BIB0037|humu23388-cit-0037","doi-asserted-by":"crossref","first-page":"2357","DOI":"10.1038\/nprot.2016.141","article-title":"A high-throughput functional genomics workflow based on CRISPR\/Cas9-mediated targeted mutagenesis in zebrafish","volume":"11","author":"Varshney","year":"2016","journal-title":"Nature Protocols"},{"key":"10.1002\/humu.23388-BIB0038|humu23388-cit-0038","doi-asserted-by":"crossref","first-page":"D339","DOI":"10.1093\/nar\/gku1023","article-title":"WDSPdb: A database for WD40-repeat proteins","volume":"43","author":"Wang","year":"2015","journal-title":"Nucleic Acids Research"},{"key":"10.1002\/humu.23388-BIB0039|humu23388-cit-0039","doi-asserted-by":"crossref","first-page":"e65705","DOI":"10.1371\/journal.pone.0065705","article-title":"A method for WD40 repeat detection and secondary structure prediction","volume":"8","author":"Wang","year":"2013","journal-title":"PLoS One"},{"key":"10.1002\/humu.23388-BIB0040|humu23388-cit-0040","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/nrg3373","article-title":"Phenotypic impact of genomic structural variation: Insights from and for human disease","volume":"14","author":"Weischenfeldt","year":"2013","journal-title":"Nature Reviews Genetics"},{"key":"10.1002\/humu.23388-BIB0041|humu23388-cit-0041","doi-asserted-by":"crossref","first-page":"e0139579","DOI":"10.1371\/journal.pone.0139579","article-title":"Knockdown of inner arm protein IC138 in Trypanosoma brucei causes defective motility and flagellar detachment","volume":"10","author":"Wilson","year":"2015","journal-title":"PloS One"},{"key":"10.1002\/humu.23388-BIB0042|humu23388-cit-0042","doi-asserted-by":"crossref","first-page":"e43005","DOI":"10.1371\/journal.pone.0043005","article-title":"Identifying the hotspots on the top faces of WD40-repeat proteins from their primary sequences by \u03b2-Bulges and DHSW Tetrads","volume":"7","author":"Wu","year":"2012","journal-title":"PLoS One"},{"key":"10.1002\/humu.23388-BIB0043|humu23388-cit-0043","doi-asserted-by":"crossref","first-page":"24732","DOI":"10.3390\/ijms161024732","article-title":"CRISPR\/Cas9-mediated rapid generation of multiple mouse lines identified Ccdc63 as essential for spermiogenesis","volume":"16","author":"Young","year":"2015","journal-title":"International Journal of Molecular Sciences"},{"key":"10.1002\/humu.23388-BIB0044|humu23388-cit-0044","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1007\/s13238-013-0018-8","article-title":"DSSylation, a novel protein modification targets proteins induced by oxidative stress, and facilitates their degradation in cells","volume":"5","author":"Zhang","year":"2014","journal-title":"Protein Cell"},{"key":"10.1002\/humu.23388-BIB0045|humu23388-cit-0045","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.mod.2007.04.004","article-title":"Genetic defects of pronephric cilia in zebrafish","volume":"124","author":"Zhao","year":"2007","journal-title":"Mechanisms of Development"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23388","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.23388\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:56:19Z","timestamp":1672332979000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23388"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,11]]},"references-count":45,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23388","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2018,1,11]]}}}