{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T18:52:09Z","timestamp":1770144729968,"version":"3.49.0"},"reference-count":30,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T00:00:00Z","timestamp":1759449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["KU 1240\/17-1"],"award-info":[{"award-number":["KU 1240\/17-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Human Genetics and Genomics Advances"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1016\/j.xhgg.2025.100528","type":"journal-article","created":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:57:02Z","timestamp":1759798622000},"page":"100528","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements"],"prefix":"10.1016","volume":"7","author":[{"given":"Frederike L.","family":"Harms","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanny","family":"Kort\u00fcm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malik","family":"Alawi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Staudt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8494-8963","authenticated-orcid":false,"given":"Kerstin","family":"Kutsche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.xhgg.2025.100528_bib1","doi-asserted-by":"crossref","first-page":"3333","DOI":"10.1093\/brain\/awt258","article-title":"RAD51 deficiency disrupts the corticospinal lateralization of motor control","volume":"136","author":"Gallea","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.xhgg.2025.100528_bib2","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1002\/mds.30199","article-title":"Corticospinal Tract Development, Evolution, and Skilled Movements","volume":"40","author":"Roze","year":"2025","journal-title":"Mov. Disord."},{"key":"10.1016\/j.xhgg.2025.100528_bib3","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1002\/hbm.24512","article-title":"The supplementary motor area modulates interhemispheric interactions during movement preparation","volume":"40","author":"Welniarz","year":"2019","journal-title":"Hum. Brain Mapp."},{"key":"10.1016\/j.xhgg.2025.100528_bib4","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1126\/science.1186463","article-title":"Mutations in DCC cause congenital mirror movements","volume":"328","author":"Srour","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.xhgg.2025.100528_bib5","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.ajhg.2011.12.002","article-title":"RAD51 haploinsufficiency causes congenital mirror movements in humans","volume":"90","author":"Depienne","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.xhgg.2025.100528_bib6","doi-asserted-by":"crossref","first-page":"3923","DOI":"10.1172\/JCI95442","article-title":"Mutations in the netrin-1 gene cause congenital mirror movements","volume":"127","author":"Meneret","year":"2017","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.xhgg.2025.100528_bib7","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.add5501","article-title":"Genetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor control","volume":"9","author":"Schlienger","year":"2023","journal-title":"Sci. Adv."},{"key":"10.1016\/j.xhgg.2025.100528_bib8","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1007\/s00439-014-1475-8","article-title":"Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder","volume":"133","author":"Ahmed","year":"2014","journal-title":"Hum. Genet."},{"key":"10.1016\/j.xhgg.2025.100528_bib9","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1002\/mds.29669","article-title":"Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals","volume":"39","author":"Collins Hutchinson","year":"2024","journal-title":"Mov. Disord."},{"key":"10.1016\/j.xhgg.2025.100528_bib10","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.jns.2015.03.006","article-title":"Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations","volume":"351","author":"Franz","year":"2015","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.xhgg.2025.100528_bib11","doi-asserted-by":"crossref","first-page":"1999","DOI":"10.1212\/WNL.0000000000000477","article-title":"Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases","volume":"82","author":"Meneret","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.xhgg.2025.100528_bib12","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0092-8674(00)81336-7","article-title":"Deleted in Colorectal Cancer (DCC) encodes a netrin receptor","volume":"87","author":"Keino-Masu","year":"1996","journal-title":"Cell"},{"key":"10.1016\/j.xhgg.2025.100528_bib13","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/0092-8674(94)90421-9","article-title":"Netrins are diffusible chemotropic factors for commissural axons in the embryonic spinal cord","volume":"78","author":"Kennedy","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.xhgg.2025.100528_bib14","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.14264","article-title":"NOVA regulates Dcc alternative splicing during neuronal migration and axon guidance in the spinal cord","volume":"5","author":"Leggere","year":"2016","journal-title":"eLife"},{"key":"10.1016\/j.xhgg.2025.100528_bib15","first-page":"4493","article-title":"Expression and alternative splicing of the deleted in colorectal cancer (DCC) gene in normal and malignant tissues","volume":"54","author":"Reale","year":"1994","journal-title":"Cancer Res."},{"key":"10.1016\/j.xhgg.2025.100528_bib16","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.14371","article-title":"NOVA2-mediated RNA regulation is required for axonal pathfinding during development","volume":"5","author":"Saito","year":"2016","journal-title":"eLife"},{"key":"10.1016\/j.xhgg.2025.100528_bib17","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","article-title":"A genomic mutational constraint map using variation in 76,156 human genomes","volume":"625","author":"Chen","year":"2024","journal-title":"Nature"},{"key":"10.1016\/j.xhgg.2025.100528_bib18","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-024-07556-0","article-title":"A deep catalogue of protein-coding variation in 983,578 individuals","volume":"631","author":"Sun","year":"2024","journal-title":"Nature"},{"key":"10.1016\/j.xhgg.2025.100528_bib19","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/humu.22769","article-title":"New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.xhgg.2025.100528_bib20","doi-asserted-by":"crossref","DOI":"10.3389\/fonc.2024.1375942","article-title":"Exploring the role of m (6) A writer RBM15 in cancer: a systematic review","volume":"14","author":"Cao","year":"2024","journal-title":"Front. Oncol."},{"key":"10.1016\/j.xhgg.2025.100528_bib21","doi-asserted-by":"crossref","first-page":"33292","DOI":"10.1074\/jbc.M113.500397","article-title":"Identification of Wilms' tumor 1-associating protein complex and its role in alternative splicing and the cell cycle","volume":"288","author":"Horiuchi","year":"2013","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.xhgg.2025.100528_bib22","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.07938","article-title":"Cross-talk between PRMT1-mediated methylation and ubiquitylation on RBM15 controls RNA splicing","volume":"4","author":"Zhang","year":"2015","journal-title":"eLife"},{"key":"10.1016\/j.xhgg.2025.100528_bib23","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1038\/s41598-017-00514-z","article-title":"Non cell-autonomous role of DCC in the guidance of the corticospinal tract at the midline","volume":"7","author":"Welniarz","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.xhgg.2025.100528_bib24","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/s41419-024-06719-1","article-title":"Ventricular Netrin-1 deficiency leads to defective pyramidal decussation and mirror movement in mice","volume":"15","author":"Hu","year":"2024","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.xhgg.2025.100528_bib25","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2020.108654","article-title":"Loss of floor plate Netrin-1 impairs midline crossing of corticospinal axons and leads to mirror movements","volume":"34","author":"Pourchet","year":"2021","journal-title":"Cell Rep."},{"key":"10.1016\/j.xhgg.2025.100528_bib26","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2023.112455","article-title":"A tug of war between DCC and ROBO1 signaling during commissural axon guidance","volume":"42","author":"Dailey-Krempel","year":"2023","journal-title":"Cell Rep."},{"key":"10.1016\/j.xhgg.2025.100528_bib27","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1128\/MCB.00370-08","article-title":"Ott1 (Rbm15) is essential for placental vascular branching morphogenesis and embryonic development of the heart and spleen","volume":"29","author":"Raffel","year":"2009","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.xhgg.2025.100528_bib28","doi-asserted-by":"crossref","first-page":"6001","DOI":"10.1073\/pnas.0609041104","article-title":"Ott1(Rbm15) has pleiotropic roles in hematopoietic development","volume":"104","author":"Raffel","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.xhgg.2025.100528_bib29","doi-asserted-by":"crossref","first-page":"7305","DOI":"10.1007\/s12035-019-1595-1","article-title":"RBM15 Modulates the Function of Chromatin Remodeling Factor BAF155 Through RNA Methylation in Developing Cortex","volume":"56","author":"Xie","year":"2019","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.xhgg.2025.100528_bib30","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.ydbio.2017.09.013","article-title":"The large and small SPEN family proteins stimulate axon outgrowth during neurosecretory cell remodeling in Drosophila","volume":"431","author":"Gu","year":"2017","journal-title":"Dev. Biol."}],"container-title":["Human Genetics and Genomics Advances"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666247725001319?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666247725001319?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T16:33:36Z","timestamp":1768494816000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2666247725001319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["S2666247725001319"],"URL":"https:\/\/doi.org\/10.1016\/j.xhgg.2025.100528","relation":{},"ISSN":["2666-2477"],"issn-type":[{"value":"2666-2477","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements","name":"articletitle","label":"Article Title"},{"value":"Human Genetics and Genomics Advances","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.xhgg.2025.100528","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of American Society of Human Genetics.","name":"copyright","label":"Copyright"}],"article-number":"100528"}}