{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T02:17:07Z","timestamp":1785205027046,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph\/ephrin receptor family were reported in several neurodevelopmental disorders. The ephrin receptor A7 gene (\n                    <jats:italic>EPHA7<\/jats:italic>\n                    ) encodes a member of ephrin receptor subfamily of the protein\u2010tyrosine kinase family. EPHA7 plays a role in corticogenesis processes, determines brain size and shape, and is involved in development of the central nervous system. One patient only was reported so far with a de novo deletion encompassing\n                    <jats:italic>EPHA7<\/jats:italic>\n                    in 6q16.1. We report 12 additional patients from nine unrelated pedigrees with similar deletions. The deletions were inherited in nine out of 12 patients, suggesting variable expressivity and incomplete penetrance. Four patients had tiny deletions involving only\n                    <jats:italic>EPHA7<\/jats:italic>\n                    , suggesting a critical role of\n                    <jats:italic>EPHA7<\/jats:italic>\n                    in a neurodevelopmental disability phenotype. We provide further evidence for\n                    <jats:italic>EPHA7<\/jats:italic>\n                    deletion as a risk factor for neurodevelopmental disorder and delineate its clinical phenotype.\n                  <\/jats:p>","DOI":"10.1111\/cge.14017","type":"journal-article","created":{"date-parts":[[2021,6,27]],"date-time":"2021-06-27T05:21:22Z","timestamp":1624771282000},"page":"396-404","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<scp>EPHA7<\/scp>\n                    haploinsufficiency is associated with a neurodevelopmental disorder"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8822-816X","authenticated-orcid":false,"given":"Jonathan","family":"L\u00e9vy","sequence":"first","affiliation":[{"name":"Genetics Department APHP, Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9r\u00e9nice","family":"Schell","sequence":"additional","affiliation":[{"name":"Genetics Department APHP, Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hala","family":"Nasser","sequence":"additional","affiliation":[{"name":"Genetics Department APHP, Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myriam","family":"Rachid","sequence":"additional","affiliation":[{"name":"Genetics Department APHP, Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4940-5896","authenticated-orcid":false,"given":"Lyse","family":"Ruaud","sequence":"additional","affiliation":[{"name":"Genetics Department APHP, Robert\u2010Debr\u00e9 University Hospital  Paris France"},{"name":"Universit\u00e9 de Paris Medical School  Paris France"},{"name":"INSERM UMR1141, Paris University, APHP, Robert\u2010Debr\u00e9 Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5109-0857","authenticated-orcid":false,"given":"Nathalie","family":"Couque","sequence":"additional","affiliation":[{"name":"Genetics Department APHP, Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Callier","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de r\u00e9f\u00e9rence \u201cAnomalies du D\u00e9veloppement et Syndromes Malformatifs\u201d H\u00f4pital d'Enfants, Centre Hospitalier Universitaire de Dijon  Dijon France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Chromosomique et Mol\u00e9culaire Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon  Dijon France"},{"name":"UMR\u2010Inserm 1231 GAD Team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de r\u00e9f\u00e9rence \u201cAnomalies du D\u00e9veloppement et Syndromes Malformatifs\u201d H\u00f4pital d'Enfants, Centre Hospitalier Universitaire de Dijon  Dijon France"},{"name":"UMR\u2010Inserm 1231 GAD Team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Marle","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Chromosomique et Mol\u00e9culaire Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon  Dijon France"},{"name":"UMR\u2010Inserm 1231 GAD Team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aafke","family":"Engwerda","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Centre Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conny M. A.","family":"van Ravenswaaij\u2010Arts","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Centre Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morgane","family":"Plutino","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nice  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houda","family":"Karmous\u2010Benailly","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nice  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Benech","sequence":"additional","affiliation":[{"name":"Etablissement Fran\u00e7ais du Sang  Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Redon","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et Histocompatibilit\u00e9 Service de G\u00e9n\u00e9tique M\u00e9dicale, CHRU  Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boute","sequence":"additional","affiliation":[{"name":"CHU Lille, Clinique de G\u00e9n\u00e9tique \u201cGuy Fontaine\u201d  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Boudry Labis","sequence":"additional","affiliation":[{"name":"CHU Lille, Institut de G\u00e9n\u00e9tique M\u00e9dicale  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"Rama","sequence":"additional","affiliation":[{"name":"CHU Lille, Institut de G\u00e9n\u00e9tique M\u00e9dicale  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Kuentz","sequence":"additional","affiliation":[{"name":"UMR\u2010Inserm 1231 GAD Team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9  Dijon France"},{"name":"G\u00e9n\u00e9tique Biologique PCBio, Centre Hospitalier Universitaire de Besan\u00e7on  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Assoumani","sequence":"additional","affiliation":[{"name":"Clinical Investigation Center 1431, INSERM  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel Van","family":"Maldergem","sequence":"additional","affiliation":[{"name":"Clinical Investigation Center 1431, INSERM  Besan\u00e7on France"},{"name":"Center of Human Genetics University of Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Dupont","sequence":"additional","affiliation":[{"name":"Genetics Department APHP, Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4819-0264","authenticated-orcid":false,"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[{"name":"Genetics Department APHP, Robert\u2010Debr\u00e9 University Hospital  Paris France"},{"name":"Universit\u00e9 de Paris Medical School  Paris France"},{"name":"INSERM UMR1141, Paris University, APHP, Robert\u2010Debr\u00e9 Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2910-7744","authenticated-orcid":false,"given":"Anne\u2010Claude","family":"Tabet","sequence":"additional","affiliation":[{"name":"Genetics Department APHP, Robert\u2010Debr\u00e9 University Hospital  Paris France"},{"name":"Neuroscience Department Human Genetics and Cognitive Function Unit, Pasteur Institute  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2011.10.025"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.7417.1"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2015.16"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.09.003"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13234"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-2-17"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80276-7"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep29710"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1323793111"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0172-9"},{"key":"e_1_2_9_12_1","first-page":"1","volume-title":"GeneReviews\u00ae","author":"Morris CA","year":"2017"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0693-9"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001154"},{"key":"e_1_2_9_15_1","first-page":"1","article-title":"The role of the Eph \/ ephrin family during cortical development and cerebral malformations","volume":"6","author":"Gerstmann K","year":"2018","journal-title":"Med Res Arch"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0231561"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14017","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14017","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14017","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T19:36:34Z","timestamp":1693337794000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14017"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1111\/cge.14017"],"URL":"https:\/\/doi.org\/10.1111\/cge.14017","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14017\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14017\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14017\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14017\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14017\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14017\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14017\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14017\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14017\/v3\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"2020-11-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}