{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T13:42:01Z","timestamp":1788356521367,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T00:00:00Z","timestamp":1715904000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dandy\u2013Walker malformation (DWM) is often sporadic, but there are a growing number of genetic disorders that have been associated with this condition. We present a female individual with a de novo variant in <jats:italic>ABL1<\/jats:italic>, c.734A&gt;G (p.Y245), who was diagnosed prenatally with DWM. <jats:italic>ABL1<\/jats:italic>\u2010related neurodevelopmental disorder was recently identified but brain malformations have not been well characterized to date. We reviewed the published literature and identified one additional individual with DWM and <jats:italic>ABL1<\/jats:italic>\u2010related disorder, which suggests a possible association with this malformation.<\/jats:p>","DOI":"10.1002\/ajmg.a.63718","type":"journal-article","created":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T05:19:15Z","timestamp":1716009555000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>Dandy\u2013Walker<\/scp> malformation in an individual with <i>ABL1<\/i> variant"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4734-3396","authenticated-orcid":false,"given":"Jenny P.","family":"Garzon","sequence":"first","affiliation":[{"name":"Division of Genetics, Genomics, and Metabolism Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"},{"name":"Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea C.","family":"Pardo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA"},{"name":"Division of Neurology, Department of Pediatrics Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7488-2662","authenticated-orcid":false,"given":"Carolyn R.","family":"Raski","sequence":"additional","affiliation":[{"name":"Division of Genetics, Genomics, and Metabolism Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"},{"name":"Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3348-3531","authenticated-orcid":false,"given":"Carlos E.","family":"Prada","sequence":"additional","affiliation":[{"name":"Division of Genetics, Genomics, and Metabolism Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"},{"name":"Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,17]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"Bayley scales of infant and toddler development","author":"Bayley N.","year":"2005"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00766-w"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.351140038"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000014782"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24075"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001814"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/RMR.0b013e3182a2ca77"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(03)00325-7"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/300765a0"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33139"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.771"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61969"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2023.03.005"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2007.00158.x"},{"issue":"3","key":"e_1_2_7_16_1","first-page":"436","article-title":"Enlarged cisterna magna and the Dandy\u2013Walker malformation: Factors associated with chromosome abnormalities","volume":"77","author":"Nyberg D. A.","year":"1991","journal-title":"Obstetrics and Gynecology"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-230X(02)85003-5"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2861-10.2010"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.13296"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.111"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2020.08.184"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073817712589"},{"issue":"1","key":"e_1_2_7_23_1","first-page":"103","article-title":"Dandy Walker malformation","volume":"112","author":"Trevino Alanis M. G.","year":"2014","journal-title":"Archivos Argentinos de Pediatr\u00eda"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3815"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050708"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81200-3"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63718","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T01:02:28Z","timestamp":1743901348000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63718"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,17]]},"references-count":25,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1002\/ajmg.a.63718"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63718","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,17]]},"assertion":[{"value":"2024-03-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63718"}}