{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:45:32Z","timestamp":1790948732329,"version":"4.1.0"},"reference-count":70,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T00:00:00Z","timestamp":1758240000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT 178155"],"award-info":[{"award-number":["PJT 178155"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006447","name":"Universit\u00e4t Z\u00fcrich","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006447","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005155","name":"Azrieli Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012360","name":"Heart of England NHS Foundation Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012360","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2025,11]]},"DOI":"10.1016\/j.ajhg.2025.09.008","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T14:40:52Z","timestamp":1759243252000},"page":"2625-2642","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B"],"prefix":"10.1016","volume":"112","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2027-8344","authenticated-orcid":false,"given":"Esra","family":"Erkut","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cherith","family":"Somerville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marci L.B.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"McDonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiliang","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia M.","family":"Moran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roozbeh","family":"Manshaei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Riedijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Therese","family":"Schn\u00fcrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel C.","family":"Koboldt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma C.","family":"Bedoukian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Blanc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura K.","family":"Conlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Cox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin E.M.","family":"Diderich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bri","family":"Dingmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christ\u00e8le","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Elmslie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis F.","family":"Escobar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Gosselin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J.","family":"Guillen Sacoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia D.","family":"Haag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Herzig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramanand","family":"Jeeneea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priti","family":"Kenia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Kolokotronis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna M.","family":"Kopps","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christin","family":"Kupper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayley","family":"Lees","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Levy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Littlejohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Demian","family":"Mayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim L.","family":"McBride","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott D.","family":"McLean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhil","family":"Pattani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Perrin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Pingault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chlo\u00e9","family":"Quelin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Ranza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara L.","family":"Reichert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Rosmaninho-Salgado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara","family":"Skraban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9rgio","family":"Sousa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Stuebben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Zanoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond H.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian C.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3596-8161","authenticated-orcid":false,"given":"Rebekah K.","family":"Jobling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2025.09.008_bib1","series-title":"Genetic causes of syndromic and non-syndromic congenital heart disease","author":"Fahed","year":"2012"},{"key":"10.1016\/j.ajhg.2025.09.008_bib2","doi-asserted-by":"crossref","DOI":"10.3389\/fpubh.2024.1328282","article-title":"Global, regional and national burdens of reproduction-related congenital birth defects, 1990-2019","volume":"12","author":"Shen","year":"2024","journal-title":"Front. Public Health"},{"key":"10.1016\/j.ajhg.2025.09.008_bib3","doi-asserted-by":"crossref","first-page":"2366","DOI":"10.21037\/tp-21-297","article-title":"Genetics of congenital heart disease: A narrative review of recent advances and clinical implications","volume":"10","author":"Yasuhara","year":"2021","journal-title":"Transl. Pediatr."},{"key":"10.1016\/j.ajhg.2025.09.008_bib4","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1097\/MOP.0000000000000538","article-title":"The genetics of congenital heart disease, understanding and improving long-term outcomes in congenital heart disease: A review for the general cardiologist and primary care physician","volume":"29","author":"Simmons","year":"2017","journal-title":"Curr. Opin. Pediatr."},{"key":"10.1016\/j.ajhg.2025.09.008_bib5","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.diff.2012.04.005","article-title":"The neural crest in cardiac congenital anomalies","volume":"84","author":"Keyte","year":"2012","journal-title":"Differentiation."},{"key":"10.1016\/j.ajhg.2025.09.008_bib6","first-page":"90","article-title":"Fetal blood flow and genetic mutations in conotruncal congenital heart disease","volume":"8","author":"Dyer","year":"2021","journal-title":"J. Cardiovasc. Dev. Dis."},{"key":"10.1016\/j.ajhg.2025.09.008_bib7","doi-asserted-by":"crossref","first-page":"3373","DOI":"10.1038\/sj.emboj.7601765","article-title":"Reconstitution reveals the functional core of mammalian eIF3","volume":"26","author":"Masutani","year":"2007","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2025.09.008_bib8","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1038\/nature14267","article-title":"eIF3 targets cell-proliferation messenger RNAs for translational activation or repression","volume":"522","author":"Lee","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2025.09.008_bib9","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/nature18954","article-title":"eIF3d is an mRNA cap-binding protein that is required for specialized translation initiation","volume":"536","author":"Lee","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2025.09.008_bib10","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1261\/rna.7215305","article-title":"Binding of eukaryotic initiation factor 3 to ribosomal 40S subunits and its role in ribosomal dissociation and anti-association","volume":"11","author":"Kolupaeva","year":"2005","journal-title":"RNA"},{"key":"10.1016\/j.ajhg.2025.09.008_bib11","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1074\/jbc.272.2.1101","article-title":"Conservation and diversity of eukaryotic translation initiation factor eIF3","volume":"272","author":"Asano","year":"1997","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2025.09.008_bib12","doi-asserted-by":"crossref","first-page":"10772","DOI":"10.1093\/nar\/gkw972","article-title":"Human eIF3b and eIF3a serve as the nucleation core for the assembly of eIF3 into two interconnected modules: The yeast-like core and the octamer","volume":"44","author":"Wagner","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2025.09.008_bib13","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.20934","article-title":"Eukaryotic translation initiation factor 3 plays distinct roles at the mRNA entry and exit channels of the ribosomal preinitiation complex","volume":"5","author":"Aitken","year":"2016","journal-title":"eLife"},{"key":"10.1016\/j.ajhg.2025.09.008_bib14","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/j.molcel.2004.10.017","article-title":"20S proteasome differentially alters translation of different mRNAs via the cleavage of eIF4F and eIF3","volume":"16","author":"Baugh","year":"2004","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2025.09.008_bib15","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1093\/carcin\/bgt052","article-title":"Translational regulation of RPA2 via internal ribosomal entry site and by eIF3a","volume":"34","author":"Yin","year":"2013","journal-title":"Carcinogenesis"},{"key":"10.1016\/j.ajhg.2025.09.008_bib16","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1016\/j.cell.2014.07.044","article-title":"Molecular architecture of the 40S\u22c5eIF1\u22c5eIF3 translation initiation complex","volume":"158","author":"Erzberger","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2025.09.008_bib17","first-page":"275","article-title":"The translational regulator eIF3a: The tricky eIF3 subunit","volume":"1806","author":"Saletta","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2025.09.008_bib18","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2025.09.008_bib19","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1136\/jmg.26.8.528","article-title":"De novo terminal deletion 7p22.1--pter in a child without craniosynostosis","volume":"26","author":"Speleman","year":"1989","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib20","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/ajmg.1320510320","article-title":"Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies","volume":"51","author":"Chotai","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib21","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/ajmg.1320440106","article-title":"7p deletion syndrome: An adult with mild manifestations","volume":"44","author":"Grebe","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib22","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1097\/SCS.0b013e3181ebcc9c","article-title":"Use of array comparative genome hybridization in orofacial clefting","volume":"21","author":"Gallego","year":"2010","journal-title":"J. Craniofac. Surg."},{"key":"10.1016\/j.ajhg.2025.09.008_bib23","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1002\/ajmg.a.34041","article-title":"Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22","volume":"155A","author":"Richards","year":"2011","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib24","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002843","article-title":"Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways","volume":"8","author":"Silversides","year":"2012","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib25","doi-asserted-by":"crossref","first-page":"2133","DOI":"10.1002\/ajmg.a.36566","article-title":"7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot","volume":"164A","author":"Rendu","year":"2014","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib26","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1002\/ajmg.a.38241","article-title":"Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?","volume":"173","author":"Yu","year":"2017","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib27","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2019.103772","article-title":"Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings","volume":"63","author":"Mastromoro","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib28","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1186\/s13023-024-03321-8","article-title":"7p22.3 microdeletion: A case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy","volume":"19","author":"Skvortsova","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2025.09.008_bib29","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/j.gendis.2020.02.003","article-title":"An eIF3a gene mutation dysregulates myocardium growth with left ventricular noncompaction via the p-ERK1\/2 pathway","volume":"8","author":"Ge","year":"2021","journal-title":"Genes Dis."},{"key":"10.1016\/j.ajhg.2025.09.008_bib30","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/s41436-020-0757-x","article-title":"The cardiac genome clinic: Implementing genome sequencing in pediatric heart disease","volume":"22","author":"Reuter","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2025.09.008_bib31","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: A matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2025.09.008_bib32","first-page":"668","article-title":"The impact of GeneMatcher on international data sharing and collaboration","volume":"43","author":"Hamosh","year":"2022","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2025.09.008_bib33","unstructured":"The National Genomic Research Library v5.1, Genomics England. doi: https:\/\/doi.org\/10.6084\/m9.figshare.4530893.v7."},{"key":"10.1016\/j.ajhg.2025.09.008_bib34","doi-asserted-by":"crossref","first-page":"D988","DOI":"10.1093\/nar\/gkab1049","article-title":"Ensembl 2022","volume":"50","author":"Cunningham","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2025.09.008_bib35","series-title":"The Zebrafish Book. A Guide for the Laboratory Use of Zebrafish (Danio rerio)","author":"Westerfield","year":"2000"},{"key":"10.1016\/j.ajhg.2025.09.008_bib36","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/dvdy.10356","article-title":"Germ-line transmission of a myocardium-specific GFP transgene reveals critical regulatory elements in the cardiac myosin light chain 2 promoter of zebrafish","volume":"228","author":"Huang","year":"2003","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.ajhg.2025.09.008_bib37","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1038\/ni1007","article-title":"Transplantation and in vivo imaging of multilineage engraftment in zebrafish bloodless mutants","volume":"4","author":"Traver","year":"2003","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.ajhg.2025.09.008_bib38","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1101\/gr.186379.114","article-title":"High-throughput gene targeting and phenotyping in zebrafish using CRISPR\/Cas9","volume":"25","author":"Varshney","year":"2015","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2025.09.008_bib39","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0098186","article-title":"Efficient mutagenesis by Cas9 protein-mediated oligonucleotide insertion and large-scale assessment of single-guide RNAs","volume":"9","author":"Gagnon","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2025.09.008_bib40","first-page":"2025","article-title":"Maximizing mutagenesis with solubilized CRISPR-Cas9 ribonucleoprotein complexes","volume":"143","author":"Burger","year":"2016","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2025.09.008_bib41","doi-asserted-by":"crossref","first-page":"3168","DOI":"10.1002\/dvdy.22143","article-title":"A rapid and efficient method of genotyping zebrafish mutants","volume":"238","author":"Parant","year":"2009","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.ajhg.2025.09.008_bib42","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: An open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2025.09.008_bib43","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2023.1143852","article-title":"pyHeart4Fish: Chamber-specific heart phenotype quantification of zebrafish in high-content screens","volume":"11","author":"Vedder","year":"2023","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2025.09.008_bib44","doi-asserted-by":"crossref","DOI":"10.1016\/j.mcpro.2021.100128","article-title":"A toolbox for efficient proximity-dependent biotinylation in zebrafish embryos","volume":"20","author":"Rosenthal","year":"2021","journal-title":"Mol. Cell. Proteomics"},{"key":"10.1016\/j.ajhg.2025.09.008_bib45","doi-asserted-by":"crossref","first-page":"5877","DOI":"10.1038\/s41467-022-32982-x","article-title":"Intrinsic myocardial defects underlie an rbfox-deficient zebrafish model of hypoplastic left heart syndrome","volume":"13","author":"Huang","year":"2022","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2025.09.008_bib46","doi-asserted-by":"crossref","first-page":"7913","DOI":"10.1093\/nar\/gky372","article-title":"Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico\/in vitro studies: An international collaborative effort","volume":"46","author":"Leman","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2025.09.008_bib47","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J. Comput. Biol."},{"key":"10.1016\/j.ajhg.2025.09.008_bib48","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in genie","volume":"4","author":"Reese","year":"1997","journal-title":"J. Comput. Biol."},{"key":"10.1016\/j.ajhg.2025.09.008_bib49","doi-asserted-by":"crossref","first-page":"D1143","DOI":"10.1093\/nar\/gkad989","article-title":"CADD v1.7: Using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions","volume":"52","author":"Schubach","year":"2024","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2025.09.008_bib50","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: An ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib51","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.1101\/gr.086827.108","article-title":"Evolution of gene function and regulatory control after whole-genome duplication: Comparative analyses in vertebrates","volume":"19","author":"Kassahn","year":"2009","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2025.09.008_bib52","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/aja.1002030302","article-title":"Stages of embryonic development of the zebrafish","volume":"203","author":"Kimmel","year":"1995","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.ajhg.2025.09.008_bib53","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1093\/toxsci\/kfh056","article-title":"Water permeability and TCDD-induced edem5a in zebrafish early-life stages","volume":"78","author":"Hill","year":"2004","journal-title":"Toxicol. Sci."},{"key":"10.1016\/j.ajhg.2025.09.008_bib54","doi-asserted-by":"crossref","DOI":"10.1098\/rsob.130065","article-title":"Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression","volume":"3","author":"Novorol","year":"2013","journal-title":"Open Biol."},{"key":"10.1016\/j.ajhg.2025.09.008_bib55","article-title":"Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study","author":"Audain","year":"2023","journal-title":"medRxiv"},{"key":"10.1016\/j.ajhg.2025.09.008_bib56","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1186\/s13023-021-01744-1","article-title":"EIF3F-related neurodevelopmental disorder: Refining the phenotypic and expanding the molecular spectrum","volume":"16","author":"H\u00fcffmeier","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2025.09.008_bib57","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1126\/science.aar6731","article-title":"Quantifying the contribution of recessive coding variation to developmental disorders","volume":"362","author":"Martin","year":"2018","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2025.09.008_bib58","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.ydbio.2013.06.009","article-title":"Eif3ba regulates cranial neural crest development by modulating p53 in zebrafish","volume":"381","author":"Xia","year":"2013","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2025.09.008_bib59","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/j.cell.2010.10.025","article-title":"Snapshot: Neural crest","volume":"143","author":"Sauka-Spengler","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2025.09.008_bib60","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/85845","article-title":"DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1","volume":"27","author":"Jerome","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib61","doi-asserted-by":"crossref","first-page":"5043","DOI":"10.1242\/dev.00704","article-title":"The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans","volume":"130","author":"Piotrowski","year":"2003","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2025.09.008_bib62","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1242\/dev.01799","article-title":"Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation","volume":"132","author":"Stennard","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2025.09.008_bib63","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ydbio.2016.12.009","article-title":"Tbx20 drives cardiac progenitor formation and cardiomyocyte proliferation in zebrafish","volume":"421","author":"Lu","year":"2017","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2025.09.008_bib64","doi-asserted-by":"crossref","first-page":"4005","DOI":"10.1242\/dev.01978","article-title":"Gata4 regulates the formation of multiple organs","volume":"132","author":"Holtzinger","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2025.09.008_bib65","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1101\/gad.11.8.1061","article-title":"Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis","volume":"11","author":"Molkentin","year":"1997","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2025.09.008_bib66","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1111\/j.1749-6632.2008.03450.x","article-title":"On the molecular etiology of Cornelia de Lange syndrome","volume":"1151","author":"Dorsett","year":"2009","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/j.ajhg.2025.09.008_bib67","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1136\/jmg.2005.036061","article-title":"CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene","volume":"43","author":"Jongmans","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib68","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1086\/340847","article-title":"PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity","volume":"70","author":"Tartaglia","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.09.008_bib69","doi-asserted-by":"crossref","first-page":"2928","DOI":"10.1016\/j.devcel.2021.10.009","article-title":"Controlling tissue patterning by translational regulation of signaling transcripts through the core translation factor eIF3c","volume":"56","author":"Fujii","year":"2021","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2025.09.008_bib70","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.102977","article-title":"eIF3 engages with 3'-UTR termini of highly translated mRNAs","volume":"13","author":"Mestre-Fos","year":"2025","journal-title":"eLife"}],"updated-by":[{"DOI":"10.1016\/j.ajhg.2026.02.005","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000}},{"DOI":"10.1016\/j.ajhg.2026.02.005","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T00:00:00Z","timestamp":1772668800000}}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929725003647?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929725003647?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T14:09:04Z","timestamp":1777385344000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929725003647"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":70,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["S0002929725003647"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2025.09.008","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2025.09.008","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"}]}}