{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T15:01:28Z","timestamp":1793718088783,"version":"4.6.1"},"reference-count":76,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T00:00:00Z","timestamp":1728000000000},"content-version":"vor","delay-in-days":186,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100016958","name":"NIH ORIP","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016958","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017236","name":"Huffington Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017236","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart Lung and Blood Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","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":[[2024,4]]},"DOI":"10.1016\/j.ajhg.2024.02.007","type":"journal-article","created":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T15:55:55Z","timestamp":1710258955000},"page":"742-760","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features"],"prefix":"10.1016","volume":"111","author":[{"given":"Xueyang","family":"Pan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice M.","family":"Tao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shenzhao","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengqi","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shabab B.","family":"Hannan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Slaugh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Drewes Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"O'Grady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oguz","family":"Kanca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Person","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa T.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konrad","family":"Platzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Schnabel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rami","family":"Abou Jamra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy E.","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane W.","family":"Newburger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Revah-Politi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge L.","family":"Granadillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander P.A.","family":"Stegmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margje","family":"Sinnema","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Accogli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Salpietro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Ghaloul-Gonzalez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Brueckner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marleen E.H.","family":"Simon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Sweetser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin E.","family":"Glinton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E.","family":"Kirk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay C.","family":"Burrage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason D.","family":"Heaney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seon-Young","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise G.","family":"Lanza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhandong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongxue","family":"Mao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksander","family":"Milosavljevic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandesh C.S.","family":"Nagamani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer E.","family":"Posey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uma","family":"Ramamurthy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivek","family":"Ramanathan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Roth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramin","family":"Zahedi Darshoori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F.","family":"Wangler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinya","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5992-5989","authenticated-orcid":false,"given":"Hugo J.","family":"Bellen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2024.02.007_bib1","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1242\/dev.128.14.2793","article-title":"The furry gene of Drosophila is important for maintaining the integrity of cellular extensions during morphogenesis","volume":"128","author":"Cong","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2024.02.007_bib2","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.neuron.2004.09.021","article-title":"Mechanosensory neurite termination and tiling depend on SAX-2 and the SAX-1 kinase","volume":"44","author":"Gallegos","year":"2004","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2024.02.007_bib3","doi-asserted-by":"crossref","first-page":"19344","DOI":"10.1073\/pnas.1008954107","article-title":"Xenopus furry contributes to release of microRNA gene silencing","volume":"107","author":"Goto","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2024.02.007_bib4","doi-asserted-by":"crossref","first-page":"4863","DOI":"10.1093\/emboj\/cdf495","article-title":"Fission yeast Mor2\/Cps12, a protein similar to Drosophila Furry, is essential for cell morphogenesis and its mutation induces Wee1-dependent G(2) delay","volume":"21","author":"Hirata","year":"2002","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2024.02.007_bib5","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1091\/mbc.01-07-0365","article-title":"Pag1p, a novel protein associated with protein kinase Cbk1p, is required for cell morphogenesis and proliferation in Saccharomyces cerevisiae","volume":"13","author":"Du","year":"2002","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2024.02.007_bib6","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1091\/mbc.e04-09-0828","article-title":"The tricornered Ser\/Thr protein kinase is regulated by phosphorylation and interacts with furry during Drosophila wing hair development","volume":"16","author":"He","year":"2005","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2024.02.007_bib7","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.cell.2004.09.036","article-title":"Control of dendritic branching and tiling by the Tricornered-kinase\/Furry signaling pathway in Drosophila sensory neurons","volume":"119","author":"Emoto","year":"2004","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2024.02.007_bib8","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.neuron.2011.10.036","article-title":"Integrins regulate repulsion-mediated dendritic patterning of drosophila sensory neurons by restricting dendrites in a 2D space","volume":"73","author":"Han","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2024.02.007_bib74","doi-asserted-by":"crossref","first-page":"D412","DOI":"10.1093\/nar\/gkaa913","article-title":"Pfam: The protein families database in 2021","volume":"49","author":"Mistry","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.02.007_bib9","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.cub.2009.02.054","article-title":"MST2- and Furry-mediated activation of NDR1 kinase is critical for precise alignment of mitotic chromosomes","volume":"19","author":"Chiba","year":"2009","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2024.02.007_bib10","doi-asserted-by":"crossref","first-page":"27670","DOI":"10.1074\/jbc.M112.378968","article-title":"Furry protein promotes aurora A-mediated Polo-like kinase 1 activation","volume":"287","author":"Ikeda","year":"2012","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2024.02.007_bib11","doi-asserted-by":"crossref","first-page":"4369","DOI":"10.1242\/jcs.127209","article-title":"Furry promotes acetylation of microtubules in the mitotic spindle by inhibition of SIRT2 tubulin deacetylase","volume":"126","author":"Nagai","year":"2013","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2024.02.007_bib12","article-title":"Inactivation of Hippo pathway characterizes a poor-prognosis subtype of esophageal cancer","volume":"7","author":"Mai","year":"2022","journal-title":"JCI\u00a0Insight"},{"key":"10.1016\/j.ajhg.2024.02.007_bib13","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0070930","article-title":"Mapping of Mcs30, a new mammary carcinoma susceptibility quantitative trait locus (QTL30) on rat chromosome 12: identification of fry as a candidate Mcs gene","volume":"8","author":"Ren","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2024.02.007_bib14","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature10423","article-title":"Deep sequencing reveals 50 novel genes for recessive cognitive disorders","volume":"478","author":"Najmabadi","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.02.007_bib15","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1159\/000502598","article-title":"A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay","volume":"159","author":"Paulraj","year":"2019","journal-title":"Cytogenet. Genome Res."},{"key":"10.1016\/j.ajhg.2024.02.007_bib16","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1038\/mp.2016.109","article-title":"Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability","volume":"22","author":"Riazuddin","year":"2017","journal-title":"Mol. Psychiatr."},{"key":"10.1016\/j.ajhg.2024.02.007_bib17","doi-asserted-by":"crossref","first-page":"6521","DOI":"10.1158\/0008-5472.CAN-05-1325","article-title":"AF4p12, a human homologue to the furry gene of Drosophila, as a novel MLL fusion partner","volume":"65","author":"Hayette","year":"2005","journal-title":"Cancer Res."},{"key":"10.1016\/j.ajhg.2024.02.007_bib18","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.molcel.2012.08.022","article-title":"NOTCH1 nuclear interactome reveals key regulators of its transcriptional activity and oncogenic function","volume":"48","author":"Yatim","year":"2012","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2024.02.007_bib19","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nrc1880","article-title":"Notch 1 activation in the molecular pathogenesis of T-cell acute lymphoblastic leukaemia","volume":"6","author":"Grabher","year":"2006","journal-title":"Nat. Rev. Cancer"},{"key":"10.1016\/j.ajhg.2024.02.007_bib20","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1177\/1535370218758249","article-title":"Fryl deficiency is associated with defective kidney development and function in mice","volume":"243","author":"Byun","year":"2018","journal-title":"Exp. Biol. Med."},{"key":"10.1016\/j.ajhg.2024.02.007_bib21","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/nature14135","article-title":"Large-scale discovery of novel genetic causes of developmental disorders","volume":"519","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.02.007_bib22","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.2024.02.007_bib75","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1038\/ejhg.2016.176","article-title":"A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome","volume":"25","author":"Cassina","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib76","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1038\/s41436-020-0766-9","article-title":"Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance","volume":"22","author":"Wai","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2024.02.007_bib23","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.2024.02.007_bib24","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2024.02.007_bib25","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2024.02.007_bib26","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2024.02.007_bib27","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2024.02.007_bib28","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0046688","article-title":"Predicting the functional effect of amino acid substitutions and indels","volume":"7","author":"Choi","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2024.02.007_bib29","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib30","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.2024.02.007_bib31","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1038\/ng.3703","article-title":"M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity","volume":"48","author":"Jagadeesh","year":"2016","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib32","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."},{"key":"10.1016\/j.ajhg.2024.02.007_bib33","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.08469","article-title":"A genetic toolkit for tagging intronic MiMIC containing genes","volume":"4","author":"Nagarkar-Jaiswal","year":"2015","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2024.02.007_bib34","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2021996118","article-title":"Precise genome engineering in Drosophila using prime editing","volume":"118","author":"Bosch","year":"2021","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2024.02.007_bib35","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1038\/s41467-021-21337-7","article-title":"PrimeDesign software for rapid and simplified design of prime editing guide RNAs","volume":"12","author":"Hsu","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2024.02.007_bib36","doi-asserted-by":"crossref","first-page":"E2967","DOI":"10.1073\/pnas.1405500111","article-title":"Optimized CRISPR\/Cas tools for efficient germline and somatic genome engineering in Drosophila","volume":"111","author":"Port","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2024.02.007_bib37","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1126\/science.1134426","article-title":"P[acman]: a BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster","volume":"314","author":"Venken","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2024.02.007_bib38","doi-asserted-by":"crossref","DOI":"10.1093\/genetics\/iyab012","article-title":"Scarless engineering of the Drosophila genome near any site-specific integration site","volume":"217","author":"Feng","year":"2021","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2024.02.007_bib39","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.neuron.2019.07.005","article-title":"Unlimited Genetic Switches for Cell-Type-Specific Manipulation","volume":"104","author":"Garcia-Marques","year":"2019","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2024.02.007_bib40","doi-asserted-by":"crossref","first-page":"2381","DOI":"10.1534\/g3.114.014803","article-title":"Fast and efficient Drosophila melanogaster gene knock-ins using MiMIC transposons","volume":"4","author":"Vilain","year":"2014","journal-title":"G3 (Bethesda)"},{"key":"10.1016\/j.ajhg.2024.02.007_bib41","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1038\/nmeth.1662","article-title":"MiMIC: a highly versatile transposon insertion resource for engineering Drosophila melanogaster genes","volume":"8","author":"Venken","year":"2011","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2024.02.007_bib42","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1007\/s12311-022-01379-3","article-title":"Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development","volume":"22","author":"Accogli","year":"2023","journal-title":"Cerebellum"},{"key":"10.1016\/j.ajhg.2024.02.007_bib43","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.ajhg.2022.01.020","article-title":"Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures","volume":"109","author":"Lu","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib44","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1016\/j.ajhg.2022.09.005","article-title":"De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement","volume":"109","author":"Lu","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib45","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1177\/074873049601100108","article-title":"Developmental state and the circadian clock interact to influence the timing of eclosion in Drosophila melanogaster","volume":"11","author":"Qiu","year":"1996","journal-title":"J.\u00a0Biol. Rhythm."},{"key":"10.1016\/j.ajhg.2024.02.007_bib46","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/S0896-6273(03)00644-5","article-title":"Synaptojanin is recruited by endophilin to promote synaptic vesicle uncoating","volume":"40","author":"Verstreken","year":"2003","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2024.02.007_bib47","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/ng1403","article-title":"Nonsense-mediated decay approaches the clinic","volume":"36","author":"Holbrook","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib48","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.tig.2020.11.002","article-title":"To NMD or Not To NMD: Nonsense-Mediated mRNA Decay in Cancer and Other Genetic Diseases","volume":"37","author":"Supek","year":"2021","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib49","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/j.ajhg.2012.04.004","article-title":"Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome","volume":"90","author":"Bernier","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib50","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1111\/cge.12259","article-title":"Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause","volume":"86","author":"Petit","year":"2014","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib51","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1186\/1471-2105-12-357","article-title":"An integrative approach to ortholog prediction for disease-focused and other functional studies","volume":"12","author":"Hu","year":"2011","journal-title":"BMC Bioinf."},{"key":"10.1016\/j.ajhg.2024.02.007_bib52","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1016\/j.celrep.2015.01.059","article-title":"Plug-and-play genetic access to drosophila cell types using exchangeable exon cassettes","volume":"10","author":"Diao","year":"2015","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2024.02.007_bib53","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.05338","article-title":"A library of MiMICs allows tagging of genes and reversible, spatial and temporal knockdown of proteins in Drosophila","volume":"4","author":"Nagarkar-Jaiswal","year":"2015","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2024.02.007_bib54","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.35574","article-title":"A gene-specific T2A-GAL4 library for Drosophila","volume":"7","author":"Lee","year":"2018","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2024.02.007_bib55","doi-asserted-by":"crossref","first-page":"3665","DOI":"10.1093\/nar\/25.18.3665","article-title":"FLP-mediated DNA mobilization to specific target sites in Drosophila chromosomes","volume":"25","author":"Golic","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.02.007_bib56","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.cell.2014.09.002","article-title":"A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases","volume":"159","author":"Yamamoto","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2024.02.007_bib57","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The Genotype-Tissue Expression (GTEx) project","volume":"45","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib58","doi-asserted-by":"crossref","DOI":"10.1126\/science.abk2432","article-title":"Fly Cell Atlas: A single-nucleus transcriptomic atlas of the adult fruit fly","volume":"375","author":"Li","year":"2022","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2024.02.007_bib59","doi-asserted-by":"crossref","first-page":"7999","DOI":"10.1523\/JNEUROSCI.0142-20.2020","article-title":"Drosophila Voltage-Gated Sodium Channels Are Only Expressed in Active Neurons and Are Localized to Distal Axonal Initial Segment-like Domains","volume":"40","author":"Ravenscroft","year":"2020","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ajhg.2024.02.007_bib60","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/s41586-019-1711-4","article-title":"Search-and-replace genome editing without double-strand breaks or donor DNA","volume":"576","author":"Anzalone","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.02.007_bib61","doi-asserted-by":"crossref","DOI":"10.1101\/pdb.prot5549","article-title":"Electroretinogram recordings of Drosophila","volume":"2011","author":"Dolph","year":"2011","journal-title":"Cold Spring Harb. Protoc."},{"key":"10.1016\/j.ajhg.2024.02.007_bib62","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.51539","article-title":"An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms","volume":"8","author":"Kanca","year":"2019","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2024.02.007_bib63","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.76077","article-title":"An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR-mediated homologous recombination","volume":"11","author":"Kanca","year":"2022","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2024.02.007_bib64","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/s41576-023-00633-6","article-title":"Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans","volume":"25","author":"Yamamoto","year":"2024","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib65","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1093\/hmg\/ddr080","article-title":"A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration","volume":"20","author":"Chavali","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2024.02.007_bib66","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1534\/genetics.116.190850","article-title":"Human SOD1 ALS Mutations in a Drosophila Knock-In Model Cause Severe Phenotypes and Reveal Dosage-Sensitive Gain- and Loss-of-Function Components","volume":"205","author":"\u015eahin","year":"2017","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2024.02.007_bib67","doi-asserted-by":"crossref","first-page":"14145","DOI":"10.1523\/JNEUROSCI.2932-12.2012","article-title":"A knock-in model of\u00a0human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure","volume":"32","author":"Sun","year":"2012","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ajhg.2024.02.007_bib68","doi-asserted-by":"crossref","first-page":"e374","DOI":"10.1038\/cddis.2012.115","article-title":"Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice","volume":"3","author":"Yin","year":"2012","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.ajhg.2024.02.007_bib69","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.38709","article-title":"An expanded toolkit for gene tagging based on MiMIC and scarless CRISPR tagging in Drosophila","volume":"7","author":"Li-Kroeger","year":"2018","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2024.02.007_bib70","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1002\/jbmr.4323","article-title":"Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice","volume":"36","author":"Rios","year":"2021","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2024.02.007_bib71","doi-asserted-by":"crossref","first-page":"ra47","DOI":"10.1126\/scisignal.2000681","article-title":"Ablation of the kinase NDR1 predisposes mice to the development of T\u00a0cell lymphoma","volume":"3","author":"Cornils","year":"2010","journal-title":"Sci. Signal."},{"key":"10.1016\/j.ajhg.2024.02.007_bib72","doi-asserted-by":"crossref","first-page":"5342","DOI":"10.1523\/JNEUROSCI.2728-13.2014","article-title":"The serine\/threonine kinase Ndr2 controls integrin trafficking and integrin-dependent neurite growth","volume":"34","author":"Rehberg","year":"2014","journal-title":"J. Neurosci."},{"key":"10.1016\/j.ajhg.2024.02.007_bib73","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-018-30492-9","article-title":"Ndr kinases regulate retinal interneuron proliferation and homeostasis","volume":"8","author":"L\u00e9ger","year":"2018","journal-title":"Sci. Rep."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929724000399?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929724000399?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T02:49:34Z","timestamp":1728010174000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929724000399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4]]},"references-count":76,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["S0002929724000399"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2024.02.007","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2024,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features","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.2024.02.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}