{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T07:32:25Z","timestamp":1786692745767,"version":"build-2736575974"},"reference-count":47,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T00:00:00Z","timestamp":1776211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004895","name":"European Social Fund Plus","doi-asserted-by":"publisher","award":["ESF+"],"award-info":[{"award-number":["ESF+"]}],"id":[{"id":"10.13039\/501100004895","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UK Research and Innovation Medical Research Council","doi-asserted-by":"publisher","award":["MC_PC_21044"],"award-info":[{"award-number":["MC_PC_21044"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UK Research and Innovation Medical Research Council","doi-asserted-by":"publisher","award":["MR\/T031670\/1"],"award-info":[{"award-number":["MR\/T031670\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100025495","name":"Exeter College, University of Oxford","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100025495","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018379","name":"The VTCT Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018379","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013373","name":"NIHR Oxford Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013373","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006662","name":"National Institute on Handicapped Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006662","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2026,6]]},"DOI":"10.1016\/j.gim.2026.102585","type":"journal-article","created":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T23:36:40Z","timestamp":1776901000000},"page":"102585","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis"],"prefix":"10.1016","volume":"28","author":[{"given":"Laura M.","family":"Watts","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle S.M.","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Lewis-Orr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaac S.","family":"Walton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Leinhos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca S.","family":"Tooze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Pei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Calpena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Heather","family":"Vedovato-dos-Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dora","family":"Steel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberley M.","family":"Reid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju A.","family":"Kurian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shekeeb S.","family":"Mohammad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Cantagrel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Siquier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Boddaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlene","family":"Rio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moira","family":"Blyth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Kraus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuad","family":"Al Mutairi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E.","family":"Holder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia E.","family":"Clowes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan M.","family":"Cobben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew T.","family":"Timberlake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen R.","family":"Elias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie S.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin W.","family":"Bara\u00f1ano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Ceulemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn C.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita I.","family":"Ortega Rico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marte G.","family":"Haug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siren","family":"Berland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah M.","family":"Bombei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Paulson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alpa","family":"Sidhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine F.","family":"Gooch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00e1tia M.","family":"da Rocha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita","family":"Passos Bueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"\u0162opa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida Z.","family":"Muslimovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Maltese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiong Yang","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"McCann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Lord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui-lin","family":"Chin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Li-Meng Goh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perrine","family":"Charles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trayan","family":"Delchev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Avdjieva-Tzavella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salem","family":"Alawbathani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ligia","family":"Almeida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ameni","family":"Kdissa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruslan","family":"Al-Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9544-1877","authenticated-orcid":false,"given":"Aida M.","family":"Bertoli-Avella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0847-0143","authenticated-orcid":false,"given":"Andrew O.M.","family":"Wilkie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6213-7323","authenticated-orcid":false,"given":"Ruth M.","family":"Arkell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J.","family":"Shears","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5024-049X","authenticated-orcid":false,"given":"Stephen R.F.","family":"Twigg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.gim.2026.102585_bib1","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1523\/JNEUROSCI.18-01-00284.1998","article-title":"Mouse Zic1 is involved in cerebellar development","volume":"18","author":"Aruga","year":"1998","journal-title":"J Neurosci"},{"issue":"4","key":"10.1016\/j.gim.2026.102585_bib2","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1002\/dvdy.21098","article-title":"Emerging roles for zic genes in early development","volume":"236","author":"Merzdorf","year":"2007","journal-title":"Dev Dyn"},{"issue":"20","key":"10.1016\/j.gim.2026.102585_bib3","doi-asserted-by":"crossref","first-page":"3791","DOI":"10.1007\/s00018-013-1285-5","article-title":"The ZIC gene family encodes multi-functional proteins essential for patterning and morphogenesis","volume":"70","author":"Houtmeyers","year":"2013","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/j.gim.2026.102585_bib4","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/978-981-10-7311-3_13","article-title":"ZIC1 function in normal cerebellar development and human developmental pathology","volume":"1046","author":"Aruga","year":"2018","journal-title":"Adv Exp Med Biol"},{"issue":"10","key":"10.1016\/j.gim.2026.102585_bib5","doi-asserted-by":"crossref","first-page":"6889","DOI":"10.1074\/jbc.C000773200","article-title":"Physical and functional interactions between Zic and Gli proteins","volume":"276","author":"Koyabu","year":"2001","journal-title":"J Biol Chem"},{"issue":"22","key":"10.1016\/j.gim.2026.102585_bib6","doi-asserted-by":"crossref","first-page":"3459","DOI":"10.1093\/hmg\/ddn239","article-title":"Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain","volume":"17","author":"Hatayama","year":"2008","journal-title":"Hum Mol Genet"},{"issue":"3","key":"10.1016\/j.gim.2026.102585_bib7","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.ajhg.2015.07.007","article-title":"Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability","volume":"97","author":"Twigg","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.gim.2026.102585_bib8","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1136\/jmedgenet-2016-104215","article-title":"Diagnostic value of exome and whole genome sequencing in craniosynostosis","volume":"54","author":"Miller","year":"2017","journal-title":"J Med Genet"},{"issue":"12","key":"10.1016\/j.gim.2026.102585_bib9","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/j.ejmg.2018.10.018","article-title":"Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis","volume":"61","author":"Vandervore","year":"2018","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.gim.2026.102585_bib10","doi-asserted-by":"crossref","DOI":"10.7717\/peerj.1955","article-title":"First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects","volume":"4","author":"Pangalos","year":"2016","journal-title":"PeerJ"},{"key":"10.1016\/j.gim.2026.102585_bib11","doi-asserted-by":"crossref","DOI":"10.3389\/fmolb.2022.865494","article-title":"Results from genetic studies in patients affected with craniosynostosis: clinical and molecular aspects","volume":"9","author":"Bukowska-Olech","year":"2022","journal-title":"Front Mol Biosci"},{"issue":"12","key":"10.1016\/j.gim.2026.102585_bib12","doi-asserted-by":"crossref","first-page":"2994","DOI":"10.1002\/ajmg.a.61882","article-title":"Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis","volume":"182","author":"Sasaki","year":"2020","journal-title":"Am J Med Genet A"},{"issue":"2","key":"10.1016\/j.gim.2026.102585_bib13","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/j.ydbio.2019.07.015","article-title":"Molecular patterning of the embryonic cranial mesenchyme revealed by genome-wide transcriptional profiling","volume":"455","author":"Dasgupta","year":"2019","journal-title":"Dev Biol"},{"issue":"8039","key":"10.1016\/j.gim.2026.102585_bib14","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1038\/s41586-024-08189-z","article-title":"A multi-omic atlas of human embryonic skeletal development","volume":"635","author":"To","year":"2024","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.gim.2026.102585_bib44","doi-asserted-by":"crossref","first-page":"4797","DOI":"10.1038\/s41467-021-24917-9","article-title":"The developing mouse coronal suture at single-cell resolution","volume":"12","author":"Farmer","year":"2021","journal-title":"Nat Commun"},{"issue":"6","key":"10.1016\/j.gim.2026.102585_bib16","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1038\/s41431-020-00788-4","article-title":"Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis","volume":"29","author":"T\u00f8nne","year":"2021","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.gim.2026.102585_bib17","article-title":"An additional whole-exome sequencing study in 102 panel-undiagnosed patients: a retrospective study in a Chinese craniosynostosis cohort","volume":"13","author":"Chen","year":"2022","journal-title":"Front Genet"},{"issue":"5","key":"10.1016\/j.gim.2026.102585_bib18","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1016\/j.ajhg.2023.03.017","article-title":"De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis","volume":"110","author":"Timberlake","year":"2023","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.gim.2026.102585_bib20","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"11","key":"10.1016\/j.gim.2026.102585_bib21","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Abou Tayoun","year":"2018","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1016\/j.gim.2026.102585_bib15","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1101\/gad.8.1.105","article-title":"Odd-paired: a zinc finger pair-rule protein required for the timely activation of engrailed and wingless in Drosophila embryos","volume":"8","author":"Benedyk","year":"1994","journal-title":"Genes Dev"},{"issue":"1","key":"10.1016\/j.gim.2026.102585_bib22","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-020-69917-9","article-title":"Systematized reporter assays reveal ZIC protein regulatory abilities are subclass-specific and dependent upon transcription factor binding site context","volume":"10","author":"Ahmed","year":"2020","journal-title":"Sci Rep"},{"issue":"11","key":"10.1016\/j.gim.2026.102585_bib23","doi-asserted-by":"crossref","DOI":"10.1016\/j.jmb.2022.167567","article-title":"Venus: elucidating the impact of amino acid variants on protein function beyond structure destabilisation","volume":"434","author":"Ferla","year":"2022","journal-title":"J Mol Biol"},{"issue":"1","key":"10.1016\/j.gim.2026.102585_bib24","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1093\/nar\/gkt890","article-title":"De novo prediction of DNA-binding specificities for Cys2His2 zinc finger proteins","volume":"42","author":"Persikov","year":"2014","journal-title":"Nucleic Acids Res"},{"issue":"24","key":"10.1016\/j.gim.2026.102585_bib25","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1093\/hmg\/ddab195","article-title":"Loss of Zic3 impairs planar cell polarity leading to abnormal left-right signaling, heart defects and neural tube defects","volume":"30","author":"Bellchambers","year":"2021","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gim.2026.102585_bib26","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1146\/annurev.biophys.29.1.183","article-title":"DNA recognition by Cys2His2 zinc finger proteins","volume":"29","author":"Wolfe","year":"2000","journal-title":"Annu Rev Biophys Biomol Struct"},{"issue":"6159","key":"10.1016\/j.gim.2026.102585_bib27","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/332090a0","article-title":"Disruption of a putative Cys-zinc interaction eliminates the biological activity of the Kr\u00fcppel finger protein","volume":"332","author":"Redemann","year":"1988","journal-title":"Nature"},{"issue":"9","key":"10.1016\/j.gim.2026.102585_bib28","doi-asserted-by":"crossref","first-page":"2205","DOI":"10.1093\/molbev\/msy122","article-title":"Identification and characterization of novel conserved domains in metazoan Zic proteins","volume":"35","author":"Tohmonda","year":"2018","journal-title":"Mol Biol Evol"},{"issue":"12","key":"10.1016\/j.gim.2026.102585_bib29","doi-asserted-by":"crossref","first-page":"4507","DOI":"10.1002\/j.1460-2075.1992.tb05552.x","article-title":"Determination of the base recognition positions of zinc fingers from sequence analysis","volume":"11","author":"Jacobs","year":"1992","journal-title":"EMBO J"},{"issue":"1","key":"10.1016\/j.gim.2026.102585_bib30","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0191971","article-title":"The conserved basic residues and the charged amino acid residues at the \u03b1-helix of the zinc finger motif regulate the nuclear transport activity of triple C2H2 zinc finger proteins","volume":"13","author":"Lin","year":"2018","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.gim.2026.102585_bib31","doi-asserted-by":"crossref","first-page":"1965","DOI":"10.1093\/nar\/gku1395","article-title":"A systematic survey of the Cys2His2 zinc finger DNA-binding landscape","volume":"43","author":"Persikov","year":"2015","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"10.1016\/j.gim.2026.102585_bib32","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/j.bpj.2009.11.021","article-title":"Probing the DNA-binding affinity and specificity of designed zinc finger proteins","volume":"98","author":"Jantz","year":"2010","journal-title":"Biophys J"},{"issue":"5","key":"10.1016\/j.gim.2026.102585_bib33","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1038\/s41431-024-01760-2","article-title":"Further delineation of the SCAF4-associated neurodevelopmental disorder","volume":"33","author":"Schmid","year":"2025","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"10.1016\/j.gim.2026.102585_bib34","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/j.ajhg.2020.06.019","article-title":"Variants in SCAF4 cause a neurodevelopmental disorder and are associated with impaired mRNA processing","volume":"107","author":"Fliedner","year":"2020","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.gim.2026.102585_bib35","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.ajhg.2024.12.012","article-title":"DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders","volume":"112","author":"Lessel","year":"2025","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.gim.2026.102585_bib36","doi-asserted-by":"crossref","first-page":"E541","DOI":"10.1002\/humu.20982","article-title":"The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism","volume":"30","author":"Roessler","year":"2009","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1016\/j.gim.2026.102585_bib37","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1086\/380998","article-title":"Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects","volume":"74","author":"Ware","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.gim.2026.102585_bib38","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ejhg.2015.105","article-title":"A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field","volume":"24","author":"El Malti","year":"2016","journal-title":"Eur J Hum Genet"},{"issue":"12","key":"10.1016\/j.gim.2026.102585_bib39","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1038\/ejhg.2016.91","article-title":"Rare novel variants in the ZIC3 gene cause X-linked heterotaxy","volume":"24","author":"Paulussen","year":"2016","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"10.1016\/j.gim.2026.102585_bib40","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1093\/nar\/gkw1014","article-title":"Promiscuous DNA-binding of a mutant zinc finger protein corrupts the transcriptome and diminishes cell viability","volume":"45","author":"Gillinder","year":"2017","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"10.1016\/j.gim.2026.102585_bib41","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: database of chromosomal imbalance and phenotype in humans using Ensembl resources","volume":"84","author":"Firth","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"7979","key":"10.1016\/j.gim.2026.102585_bib42","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/s41586-023-06519-1","article-title":"A vertebral skeletal stem cell lineage driving metastasis","volume":"621","author":"Sun","year":"2023","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.gim.2026.102585_bib43","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1097\/MOP.0000000000000542","article-title":"Clinical genetics of craniosynostosis","volume":"29","author":"Wilkie","year":"2017","journal-title":"Curr Opin Pediatr"},{"issue":"7831","key":"10.1016\/j.gim.2026.102585_bib45","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1038\/s41586-020-2832-5","article-title":"Evidence for 28 genetic disorders discovered by combining healthcare and research data","volume":"586","author":"Kaplanis","year":"2020","journal-title":"Nature"},{"issue":"9","key":"10.1016\/j.gim.2026.102585_bib46","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1038\/s41588-022-01104-0","article-title":"Rare coding variation provides insight into the genetic architecture and phenotypic context of autism","volume":"54","author":"Fu","year":"2022","journal-title":"Nat Genet"},{"issue":"46","key":"10.1016\/j.gim.2026.102585_bib47","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2203491119","article-title":"Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders","volume":"119","author":"Wang","year":"2022","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"10.1016\/j.gim.2026.102585_bib48","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/s41588-024-02014-z","article-title":"ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip","volume":"57","author":"Lee","year":"2025","journal-title":"Nat Genet"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360026009032?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360026009032?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T07:13:05Z","timestamp":1786691585000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360026009032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":47,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["S1098360026009032"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2026.102585","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2026,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2026.102585","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"102585"}}