{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T00:51:57Z","timestamp":1778460717065,"version":"3.51.4"},"reference-count":39,"publisher":"Wiley","license":[{"start":{"date-parts":[[2019,5,14]],"date-time":"2019-05-14T00:00:00Z","timestamp":1557792000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004836","name":"Det Frie Forskningsr\u00e5d","doi-asserted-by":"publisher","award":["4183\u201000482B"],"award-info":[{"award-number":["4183\u201000482B"]}],"id":[{"id":"10.13039\/501100004836","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004917","name":"Cancer Prevention and Research Institute of Texas","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004917","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003554","name":"Lundbeckfonden","doi-asserted-by":"publisher","award":["2013\u201314290"],"award-info":[{"award-number":["2013\u201314290"]}],"id":[{"id":"10.13039\/501100003554","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004836","name":"Det Frie Forskningsr\u00e5d","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004836","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"DOI":"10.1002\/humu.23775","type":"journal-article","created":{"date-parts":[[2019,4,29]],"date-time":"2019-04-29T11:49:17Z","timestamp":1556538557000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Multigenic truncation of the semaphorin\u2013plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome"],"prefix":"10.1155","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4807-6827","authenticated-orcid":false,"given":"Lusine","family":"Nazaryan\u2010Petersen","sequence":"first","affiliation":[{"name":"Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular MedicineUniversity of CopenhagenCopenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In\u00eas R.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular MedicineUniversity of CopenhagenCopenhagen Denmark"},{"name":"Department of Regulation and Evaluation of Medicines and Health products, Faculty of PharmacyUniversity of LisbonLisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mana M.","family":"Mehrjouy","sequence":"additional","affiliation":[{"name":"Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular MedicineUniversity of CopenhagenCopenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan M. M.","family":"Mendez","sequence":"additional","affiliation":[{"name":"Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular MedicineUniversity of CopenhagenCopenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mads","family":"Bak","sequence":"additional","affiliation":[{"name":"Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular MedicineUniversity of CopenhagenCopenhagen Denmark"},{"name":"Department of Clinical Genetics, RigshospitaletCopenhagen University HospitalCopenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merete","family":"Bugge","sequence":"additional","affiliation":[{"name":"Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular MedicineUniversity of CopenhagenCopenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6898-3259","authenticated-orcid":false,"given":"Vera M.","family":"Kalscheuer","sequence":"additional","affiliation":[{"name":"Research Group Development and DiseaseMax Planck Institute for Molecular GeneticsBerlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iben","family":"Bache","sequence":"additional","affiliation":[{"name":"Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular MedicineUniversity of CopenhagenCopenhagen Denmark"},{"name":"Department of Clinical Genetics, RigshospitaletCopenhagen University HospitalCopenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dustin C.","family":"Hancks","sequence":"additional","affiliation":[{"name":"Department of ImmunologyThe University of Texas Southwestern Medical CenterDallas Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[{"name":"Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular MedicineUniversity of CopenhagenCopenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,14]]},"reference":[{"issue":"2","key":"e_1_2_4_1_2_1","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1136\/jmg.38.2.117","article-title":"Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome","volume":"38","author":"Borck G.","year":"2001","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_4_1_3_1","doi-asserted-by":"crossref","first-page":"20471","DOI":"10.1038\/srep20471","article-title":"A cross\u2010species study of PI3K protein\u2010protein interactions reveals the direct interaction of P85 and SHP2","volume":"6","author":"Breitkopf S. B.","year":"2016","journal-title":"Scientific Reports"},{"issue":"5","key":"e_1_2_4_1_4_1","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1097\/01.NMC.0000334892.45979.d5","article-title":"The faces of Moebius syndrome: Recognition and anticipatory guidance","volume":"33","author":"Broussard A. B.","year":"2008","journal-title":"MCN. The American Journal of Maternal Child Nursing"},{"issue":"6","key":"e_1_2_4_1_5_1","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1016\/j.ccr.2013.11.007","article-title":"Impeding macrophage entry into hypoxic tumor areas by Sema3A\/Nrp1 signaling blockade inhibits angiogenesis and restores antitumor immunity","volume":"24","author":"Casazza A.","year":"2013","journal-title":"Cancer Cell"},{"issue":"5","key":"e_1_2_4_1_6_1","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.gde.2007.08.013","article-title":"Chromosome kissing","volume":"17","author":"Cavalli G.","year":"2007","journal-title":"Current Opinion in Genetics & Development"},{"issue":"3","key":"e_1_2_4_1_7_1","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1177\/088307389300800310","article-title":"Mobius syndrome: Evidence for a vascular etiology","volume":"8","author":"D'Cruz O. F.","year":"1993","journal-title":"Journal of Child Neurology"},{"issue":"34","key":"e_1_2_4_1_8_1","doi-asserted-by":"crossref","first-page":"11274","DOI":"10.1523\/JNEUROSCI.1774-14.2014","article-title":"Neural cell adhesion molecule NrCAM regulates Semaphorin 3F\u2010induced dendritic spine remodeling","volume":"34","author":"Demyanenko G. P.","year":"2014","journal-title":"The Journal of Neuroscience"},{"issue":"7398","key":"e_1_2_4_1_9_1","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature11082","article-title":"Topological domains in mammalian genomes identified by analysis of chromatin interactions","volume":"485","author":"Dixon J. R.","year":"2012","journal-title":"Nature"},{"issue":"1","key":"e_1_2_4_1_10_1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.3109\/13816819309087618","article-title":"Broad\u2010spectrum Mobius syndrome associated with a 1;11 chromosome translocation","volume":"14","author":"Donahue S. P.","year":"1993","journal-title":"Ophthalmic Paediatrics and Genetics"},{"issue":"8","key":"e_1_2_4_1_11_1","doi-asserted-by":"crossref","first-page":"e1002896","DOI":"10.1371\/journal.pgen.1002896","article-title":"SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome","volume":"8","author":"Hanchate N. K.","year":"2012","journal-title":"PLOS Genetics"},{"key":"e_1_2_4_1_12_1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s13100-016-0065-9","article-title":"Roles for retrotransposon insertions in human disease","volume":"7","author":"Hancks D. C.","year":"2016","journal-title":"Mobile DNA"},{"issue":"6","key":"e_1_2_4_1_13_1","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1016\/j.cub.2006.01.063","article-title":"ATR homolog Mec1 controls association of DNA polymerase zeta\u2010Rev1 complex with regions near a double\u2010strand break","volume":"16","author":"Hirano Y.","year":"2006","journal-title":"Current Biology"},{"issue":"2","key":"e_1_2_4_1_14_1","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s10006-015-0485-6","article-title":"Examining the genetics of congenital facial paralysis\u2014a closer look at Moebius syndrome","volume":"19","author":"Kadakia S.","year":"2015","journal-title":"Oral and Maxillofacial Surgery"},{"issue":"9","key":"e_1_2_4_1_15_1","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1093\/hmg\/5.9.1367","article-title":"Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family","volume":"5","author":"Kremer H.","year":"1996","journal-title":"Human Molecular Genetics"},{"key":"e_1_2_4_1_16_1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1146\/annurev.biochem.052308.093131","article-title":"The mechanism of double\u2010strand DNA break repair by the nonhomologous DNA end\u2010joining pathway","volume":"79","author":"Lieber M. R.","year":"2010","journal-title":"Annual Review of Biochemistry"},{"issue":"45","key":"e_1_2_4_1_17_1","doi-asserted-by":"crossref","first-page":"10556","DOI":"10.1523\/JNEUROSCI.2710-05.2005","article-title":"Central and peripheral axon branches from one neuron are guided differentially by Semaphorin 3D and transient axonal glycoprotein\u20101","volume":"25","author":"Liu Y.","year":"2005","journal-title":"The Journal of Neuroscience"},{"issue":"3","key":"e_1_2_4_1_18_1","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00431-007-0473-4","article-title":"Moebius\u2010Poland syndrome and hypogonadotropic hypogonadism","volume":"167","author":"Lopez de Lara D.","year":"2008","journal-title":"European Journal of Pediatrics"},{"issue":"11","key":"e_1_2_4_1_19_1","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.tig.2008.08.007","article-title":"MMEJ repair of double\u2010strand breaks (director's cut): Deleted sequences and alternative endings","volume":"24","author":"McVey M.","year":"2008","journal-title":"Trends in Genetics: TIG"},{"issue":"3","key":"e_1_2_4_1_20_1","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.braindev.2017.12.006","article-title":"TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome","volume":"40","author":"Nakamura Y.","year":"2018","journal-title":"Brain & Development"},{"issue":"3","key":"e_1_2_4_1_21_1","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/ejhg.2013.147","article-title":"The strength of combined cytogenetic and mate\u2010pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2","volume":"22","author":"Nazaryan L.","year":"2014","journal-title":"European Journal of Human Genetics"},{"issue":"4","key":"e_1_2_4_1_22_1","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/humu.22953","article-title":"Germline chromothripsis driven by L1\u2010mediated retrotransposition and Alu\/Alu homologous recombination","volume":"37","author":"Nazaryan\u2010Petersen L.","year":"2016","journal-title":"Human Mutation"},{"key":"e_1_2_4_1_23_1","volume-title":"eLS","author":"Nazaryan\u2010Petersen L.","year":"2016"},{"key":"e_1_2_4_1_24_1","first-page":"000984","article-title":"An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation","volume":"3","author":"Patel R. M.","year":"2017","journal-title":"Cold Spring Harbor Molecular Case Studies"},{"issue":"27","key":"e_1_2_4_1_25_1","doi-asserted-by":"crossref","first-page":"20770","DOI":"10.1074\/jbc.M002448200","article-title":"Vascular endothelial growth factor up\u2010regulates ICAM\u20101 expression via the phosphatidylinositol 3 OH\u2010kinase\/AKT\/Nitric oxide pathway and modulates migration of brain microvascular endothelial cells","volume":"275","author":"Radisavljevic Z.","year":"2000","journal-title":"The Journal of Biological Chemistry"},{"issue":"7","key":"e_1_2_4_1_26_1","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1016\/j.cell.2014.11.021","article-title":"A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping","volume":"159","author":"Rao S. S. P.","year":"2014","journal-title":"Cell"},{"issue":"7","key":"e_1_2_4_1_27_1","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1001\/archneur.1975.00490490084010","article-title":"Moebius syndrome in Kallmann syndrome","volume":"32","author":"Rubinstein A. E.","year":"1975","journal-title":"Archives of Neurology"},{"issue":"1","key":"e_1_2_4_1_28_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ydbio.2008.08.020","article-title":"Plexin A3 and plexin A4 convey semaphorin signals during facial nerve development","volume":"324","author":"Schwarz Q.","year":"2008","journal-title":"Developmental Biology"},{"issue":"6947","key":"e_1_2_4_1_29_1","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1038\/nature01784","article-title":"Class 3 semaphorins control vascular morphogenesis by inhibiting integrin function","volume":"424","author":"Serini G.","year":"2003","journal-title":"Nature"},{"issue":"6","key":"e_1_2_4_1_30_1","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1136\/jmg.28.6.413","article-title":"Deletion of chromosome 13 in Moebius syndrome","volume":"28","author":"Slee J. J.","year":"1991","journal-title":"Journal of Medical Genetics"},{"issue":"12","key":"e_1_2_4_1_31_1","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1136\/jmedgenet-2016-103880","article-title":"Eight further individuals with intellectual disability and epilepsy carrying bi\u2010allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum","volume":"53","author":"Smogavec M.","year":"2016","journal-title":"Journal of Medical Genetics"},{"issue":"1","key":"e_1_2_4_1_32_1","doi-asserted-by":"crossref","first-page":"D362","DOI":"10.1093\/nar\/gkw937","article-title":"The STRING database in 2017: Quality\u2010controlled protein\u2010protein association networks, made broadly accessible","volume":"45","author":"Szklarczyk D.","year":"2017","journal-title":"Nucleic Acids Research"},{"issue":"3","key":"e_1_2_4_1_33_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.it.2012.01.008","article-title":"Diverse roles for semaphorin\u2010plexin signaling in the immune system","volume":"33","author":"Takamatsu H.","year":"2012","journal-title":"Trends in Immunology"},{"key":"e_1_2_4_1_34_1","doi-asserted-by":"crossref","first-page":"7199","DOI":"10.1038\/ncomms8199","article-title":"De novo mutations in PLXND1 and REV3L cause Mobius syndrome","volume":"6","author":"Tomas\u2010Roca L.","year":"2015","journal-title":"Nature Communications"},{"issue":"5","key":"e_1_2_4_1_35_1","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.ejmg.2009.05.003","article-title":"Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome","volume":"52","author":"Uzumcu A.","year":"2009","journal-title":"European Journal of Medical Genetics"},{"issue":"2","key":"e_1_2_4_1_36_1","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1007\/s00415-005-0637-y","article-title":"Cognitive evaluation in adult patients with Mobius syndrome","volume":"252","author":"Verzijl H. T. F. M.","year":"2005","journal-title":"Journal of Neurology"},{"issue":"3","key":"e_1_2_4_1_37_1","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1212\/01.WNL.0000076484.91275.CD","article-title":"Mobius syndrome redefined: A syndrome of rhombencephalic maldevelopment","volume":"61","author":"Verzijl H. T. F. M.","year":"2003","journal-title":"Neurology"},{"issue":"7","key":"e_1_2_4_1_38_1","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1001\/archneur.1977.00500190071011","article-title":"Three\u2010generation pedigree of a Mobius syndrome variant with chromosome translocation","volume":"34","author":"Ziter F. A.","year":"1977","journal-title":"Archives of Neurology"},{"key":"e_1_2_4_1_39_1","doi-asserted-by":"crossref","first-page":"e30","DOI":"10.1136\/jmg.39.6.e30","article-title":"Mutation analysis in the candidate M\u00f6bius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10","volume":"39","author":"Zwaag B.","year":"2002","journal-title":"Journal of Medical Genetics"},{"issue":"2","key":"e_1_2_4_1_40_1","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.pediatrneurol.2004.02.004","article-title":"Sequence analysis of the PLEXIN\u2010D1 gene in Mobius syndrome patients","volume":"31","author":"Zwaag B.","year":"2004","journal-title":"Pediatric Neurology"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.23775","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.23775","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.23775","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:58Z","timestamp":1672332838000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23775"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,14]]},"references-count":39,"alternative-id":["10.1002\/humu.23775"],"URL":"https:\/\/doi.org\/10.1002\/humu.23775","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,14]]},"article-number":"humu.23775"}}