{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T03:47:06Z","timestamp":1793072826783,"version":"4.5.0"},"reference-count":90,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,10,7]],"date-time":"2022-10-07T00:00:00Z","timestamp":1665100800000},"content-version":"vor","delay-in-days":189,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001505","name":"Health Research Council of New Zealand","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001505","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003769","name":"Eisai","doi-asserted-by":"publisher","award":["WO\/2013\/059884"],"award-info":[{"award-number":["WO\/2013\/059884"]}],"id":[{"id":"10.13039\/501100003769","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014555","name":"Murdoch Children's Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014555","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014607","name":"The Royal Children's Hospital Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014607","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002039","name":"CURE Childhood Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002039","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004330","name":"GlaxoSmithKline","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004330","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011110","name":"UCB","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011110","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","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"}]}],"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":[[2022,4]]},"DOI":"10.1016\/j.ajhg.2022.03.002","type":"journal-article","created":{"date-parts":[[2022,4,7]],"date-time":"2022-04-07T10:35:34Z","timestamp":1649327734000},"page":"601-617","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":47,"title":["Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome"],"prefix":"10.1016","volume":"109","author":[{"given":"Sarah E.M.","family":"Stephenson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory","family":"Costain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.R.","family":"Blok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Silk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thanh Binh","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaomin","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana E.","family":"Alhuzaimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"Dowling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Walker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Amburgey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin Z.","family":"Hayeems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lance H.","family":"Rodan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc A.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Picker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally A.","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditi","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen J.","family":"Rasmussen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Schimmenti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric W.","family":"Klee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyv","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine E.","family":"Agre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilana","family":"Chilton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Revah-Politi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.Y. Billie","family":"Au","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Griffith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Racobaldo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Raas-Rothschild","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruria","family":"Ben Zeev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ortal","family":"Barel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastien","family":"Moutton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Morice-Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Carmignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Cornaton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Marle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orrin","family":"Devinsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandler","family":"Stimach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie Burns","family":"Wechsler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan E.","family":"Hainline","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Sapp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolaine","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ange-line","family":"Bruel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerith-Rae","family":"Dias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carey-Anne","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony","family":"Roscioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rani","family":"Sachdev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanna E.L.","family":"Temple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua J.","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona J.","family":"Gardiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy L.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison M.","family":"Muir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather C.","family":"Mefford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Crunk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth M.","family":"Heise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Millan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin G.","family":"Monaghan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Person","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay","family":"Rhodes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Richards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.","family":"Wentzensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogn\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Nizon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vincent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Besnard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelie","family":"Piton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Marcelis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohji","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norihisa","family":"Koyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoo","family":"Ogi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine Suk-Ying","family":"Goh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Richmond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Amor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica O.","family":"Boyce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela T.","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S.","family":"Hildebrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antony","family":"Kaspi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Bahlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00fan","family":"Fri\u00f0riksd\u00f3ttir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hildigunnur","family":"Katr\u00ednard\u00f3ttir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Sulem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00e1ri","family":"Stef\u00e1nsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans T\u00f3mas","family":"Bj\u00f6rnsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Mandelstam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Morleo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Mariani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Scala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Accogli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathew","family":"Wallis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quinten","family":"Waisfisz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugoline","family":"de Haan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Sadedin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sze Chern","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B.","family":"Ascher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Schenck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Lockhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8455-7778","authenticated-orcid":false,"given":"Tiong Yang","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2022.03.002_bib1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nature21062","article-title":"Prevalence and architecture of de novo mutations in developmental disorders","volume":"542","author":"Deciphering Developmental Disorders","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2022.03.002_bib2","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1093\/brain\/awaa079","article-title":"Predicting incidences of neurodevelopmental disorders","volume":"143","author":"Lemke","year":"2020","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2022.03.002_bib3","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/s13073-017-0498-x","article-title":"Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications","volume":"9","author":"Wilfert","year":"2017","journal-title":"Genome Med."},{"key":"10.1016\/j.ajhg.2022.03.002_bib4","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1111\/cge.13764","article-title":"Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability","volume":"98","author":"Bruel","year":"2020","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib5","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1186\/s13023-020-01472-y","article-title":"Cyclin-dependent kinases and rare developmental disorders","volume":"15","author":"Colas","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2022.03.002_bib6","doi-asserted-by":"crossref","first-page":"E1544","DOI":"10.3390\/ijms19051544","article-title":"Role of mTOR Complexes in Neurogenesis","volume":"19","author":"LiCausi","year":"2018","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ajhg.2022.03.002_bib7","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/978-981-15-1025-0_8","article-title":"The Biology of F-box Proteins: The SCF Family of E3\u00a0Ubiquitin Ligases","volume":"1217","author":"Nguyen","year":"2020","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.ajhg.2022.03.002_bib8","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.3892\/ol.2020.11728","article-title":"Function and regulation of F-box\/WD repeat-containing protein 7","volume":"20","author":"Zhang","year":"2020","journal-title":"Oncol. Lett."},{"key":"10.1016\/j.ajhg.2022.03.002_bib9","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1016\/j.ajhg.2019.07.005","article-title":"De Novo Missense Variants in FBXW11\u00a0Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies","volume":"105","author":"Holt","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib10","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.ajhg.2018.07.003","article-title":"De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder","volume":"103","author":"Gregor","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib11","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1038\/s41431-018-0292-2","article-title":"De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms","volume":"27","author":"Jansen","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib12","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1002\/ajmg.a.38712","article-title":"A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype","volume":"176","author":"Balak","year":"2018","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2022.03.002_bib13","doi-asserted-by":"crossref","first-page":"e13","DOI":"10.1111\/epi.16784","article-title":"FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability","volume":"62","author":"Schneider","year":"2021","journal-title":"Epilepsia"},{"key":"10.1016\/j.ajhg.2022.03.002_bib14","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1002\/ajmg.a.36320","article-title":"Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures","volume":"164A","author":"Au","year":"2014","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2022.03.002_bib15","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1002\/ajmg.a.37033","article-title":"FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome","volume":"167","author":"Cassina","year":"2015","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2022.03.002_bib16","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.ajhg.2013.07.017","article-title":"Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance","volume":"93","author":"Bonnen","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib17","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.ajhg.2013.07.016","article-title":"Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy","volume":"93","author":"Gai","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib18","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1093\/hmg\/ddy406","article-title":"Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature","volume":"28","author":"Ansar","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib19","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s12920-016-0208-3","article-title":"Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate","volume":"9","author":"Charng","year":"2016","journal-title":"BMC Med. Genomics"},{"key":"10.1016\/j.ajhg.2022.03.002_bib20","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1007\/s00439-016-1668-4","article-title":"An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability","volume":"135","author":"Labonne","year":"2016","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib21","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/s10038-020-00889-4","article-title":"Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia","volume":"66","author":"Yokotsuka-Ishida","year":"2021","journal-title":"J.\u00a0Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib22","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1186\/s12943-018-0857-2","article-title":"FBXW7: a critical tumor suppressor of human cancers","volume":"17","author":"Yeh","year":"2018","journal-title":"Mol. Cancer"},{"key":"10.1016\/j.ajhg.2022.03.002_bib23","doi-asserted-by":"crossref","first-page":"E246","DOI":"10.3390\/cancers11020246","article-title":"FBXW7 in Cancer: What Has Been Unraveled Thus Far?","volume":"11","author":"Sailo","year":"2019","journal-title":"Cancers (Basel)"},{"key":"10.1016\/j.ajhg.2022.03.002_bib24","doi-asserted-by":"crossref","first-page":"14654","DOI":"10.1038\/ncomms14654","article-title":"E3 ligase FBXW7\u00a0is critical for RIG-I stabilization during antiviral responses","volume":"8","author":"Song","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2022.03.002_bib25","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/s10020-019-0099-9","article-title":"FBXW7 suppresses HMGB1-mediated innate immune signaling to attenuate hepatic inflammation and insulin resistance in a mouse model of nonalcoholic fatty liver disease","volume":"25","author":"Zhang","year":"2019","journal-title":"Mol. Med."},{"key":"10.1016\/j.ajhg.2022.03.002_bib26","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1172\/JCI40725","article-title":"Fbxw7 regulates lipid metabolism and cell fate decisions in the mouse liver","volume":"121","author":"Onoyama","year":"2011","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ajhg.2022.03.002_bib27","doi-asserted-by":"crossref","first-page":"e41116","DOI":"10.1371\/journal.pone.0041116","article-title":"Fbxw7 controls angiogenesis by regulating endothelial Notch activity","volume":"7","author":"Izumi","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2022.03.002_bib28","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1091\/mbc.E18-04-0259","article-title":"FBXW7 regulates endothelial barrier function by suppression of the cholesterol synthesis pathway and prenylation of RhoB","volume":"30","author":"Pronk","year":"2019","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2022.03.002_bib29","doi-asserted-by":"crossref","first-page":"112059","DOI":"10.1016\/j.yexcr.2020.112059","article-title":"FBXW7 promotes pathological cardiac hypertrophy by targeting EZH2-SIX1 signaling","volume":"393","author":"Gao","year":"2020","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.ajhg.2022.03.002_bib30","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1084\/jem.20080277","article-title":"Control of hematopoietic stem cell quiescence by the E3 ubiquitin ligase Fbw7","volume":"205","author":"Thompson","year":"2008","journal-title":"J.\u00a0Exp. Med."},{"key":"10.1016\/j.ajhg.2022.03.002_bib31","doi-asserted-by":"crossref","first-page":"14861","DOI":"10.1523\/JNEUROSCI.4968-14.2015","article-title":"Fbxw7 Limits Myelination by Inhibiting mTOR Signaling","volume":"35","author":"Kearns","year":"2015","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ajhg.2022.03.002_bib32","doi-asserted-by":"crossref","first-page":"2976","DOI":"10.1038\/s41467-019-10881-y","article-title":"Myelinating Schwann cells ensheath multiple axons in the absence of E3 ligase component Fbxw7","volume":"10","author":"Harty","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2022.03.002_bib33","doi-asserted-by":"crossref","first-page":"13754","DOI":"10.1074\/jbc.M110.194936","article-title":"Fbxw7-dependent degradation of Notch is required for control of \u201cstemness\u201d and neuronal-glial differentiation in neural stem cells","volume":"286","author":"Matsumoto","year":"2011","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.03.002_bib34","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1749-8104-7-15","article-title":"Fbxw7 regulates Notch to control specification of neural precursors for oligodendrocyte fate","volume":"7","author":"Snyder","year":"2012","journal-title":"Neural Dev."},{"key":"10.1016\/j.ajhg.2022.03.002_bib35","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.ydbio.2011.07.030","article-title":"The F-box protein Fbw7 is required for cerebellar development","volume":"358","author":"Jandke","year":"2011","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2022.03.002_bib36","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1038\/nn.2644","article-title":"Fbw7 controls neural stem cell differentiation and progenitor apoptosis via Notch and c-Jun","volume":"13","author":"Hoeck","year":"2010","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.ajhg.2022.03.002_bib37","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1038\/s41419-019-1818-4","article-title":"Site-specific phosphorylation of Fbxw7 by Cdk5\/p25 and its resulting decreased stability are linked to glutamate-induced excitotoxicity","volume":"10","author":"Ko","year":"2019","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.ajhg.2022.03.002_bib38","doi-asserted-by":"crossref","first-page":"135265","DOI":"10.1016\/j.neulet.2020.135265","article-title":"Calpain-mediated cleavage of Fbxw7 during excitotoxicity","volume":"736","author":"Ko","year":"2020","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.ajhg.2022.03.002_bib39","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1002\/humu.22858","article-title":"The Matchmaker Exchange: a platform for rare disease gene discovery","volume":"36","author":"Philippakis","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2022.03.002_bib40","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.2022.03.002_bib41","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.2022.03.002_bib42","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.\u00a0Comput. Biol."},{"key":"10.1016\/j.ajhg.2022.03.002_bib43","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1093\/nar\/24.17.3439","article-title":"Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information","volume":"24","author":"Hebsgaard","year":"1996","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2022.03.002_bib44","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0022-2836(91)90380-O","article-title":"Prediction of human mRNA donor and acceptor sites from the DNA sequence","volume":"220","author":"Brunak","year":"1991","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2022.03.002_bib45","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting Splicing from Primary Sequence with Deep Learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"issue":"W1","key":"10.1016\/j.ajhg.2022.03.002_bib46","doi-asserted-by":"crossref","first-page":"W174","DOI":"10.1093\/nar\/gkv342","article-title":"I-TASSER server: new development for protein structure and function predictions","volume":"43","author":"Yang","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2022.03.002_bib47","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.molcel.2007.02.022","article-title":"Structure of a Fbw7-Skp1-cyclin E complex: multisite-phosphorylated substrate recognition by SCF ubiquitin ligases","volume":"26","author":"Hao","year":"2007","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2022.03.002_bib48","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl Variant Effect Predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2022.03.002_bib49","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1002\/humu.21517","article-title":"dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions","volume":"32","author":"Liu","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2022.03.002_bib50","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1093\/bioinformatics\/btt691","article-title":"mCSM: predicting the effects of mutations in proteins using graph-based signatures","volume":"30","author":"Pires","year":"2014","journal-title":"Bioinformatics"},{"issue":"W1","key":"10.1016\/j.ajhg.2022.03.002_bib51","doi-asserted-by":"crossref","first-page":"W338","DOI":"10.1093\/nar\/gkz383","article-title":"mCSM-PPI2: predicting the effects of mutations on protein-protein interactions","volume":"47","author":"Rodrigues","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2022.03.002_bib52","doi-asserted-by":"crossref","first-page":"4776","DOI":"10.1242\/dev.096941","article-title":"The Drosophila ubiquitin-specific protease Puffyeye regulates\u00a0dMyc-mediated growth","volume":"140","author":"Li","year":"2013","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2022.03.002_bib53","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s12861-020-00217-1","article-title":"Wingless and Archipelago, a fly E3 ubiquitin ligase and a homolog of human tumor suppressor FBW7, show an antagonistic relationship in wing development","volume":"20","author":"Nam","year":"2020","journal-title":"BMC Dev. Biol."},{"key":"10.1016\/j.ajhg.2022.03.002_bib54","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"issue":"Suppl 1","key":"10.1016\/j.ajhg.2022.03.002_bib55","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.1186\/1755-8794-6-S1-S14","article-title":"A novel method for the normalization of microRNA RT-PCR data","volume":"6","author":"Qureshi","year":"2013","journal-title":"BMC Med. Genomics"},{"key":"10.1016\/j.ajhg.2022.03.002_bib56","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.biopsych.2019.04.029","article-title":"Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders","volume":"86","author":"Fenckova","year":"2019","journal-title":"Biol. Psychiatry"},{"key":"10.1016\/j.ajhg.2022.03.002_bib57","doi-asserted-by":"crossref","first-page":"103530","DOI":"10.1016\/j.ejmg.2018.08.011","article-title":"Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant","volume":"62","author":"Angelini","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib59","doi-asserted-by":"crossref","first-page":"E765","DOI":"10.3390\/cancers12030765","article-title":"Nonsense-Mediated mRNA Decay: Pathologies and the Potential for Novel Therapeutics","volume":"12","author":"Pawlicka","year":"2020","journal-title":"Cancers (Basel)"},{"key":"10.1016\/j.ajhg.2022.03.002_bib58","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1038\/mp.2017.138","article-title":"FBXW7 regulates DISC1 stability via the ubiquitin-proteosome system","volume":"23","author":"Yalla","year":"2018","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.ajhg.2022.03.002_bib60","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/35095068","article-title":"Archipelago regulates Cyclin E levels in Drosophila and is mutated in human cancer cell lines","volume":"413","author":"Moberg","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2022.03.002_bib61","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1126\/science.1065203","article-title":"Phosphorylation-dependent ubiquitination of cyclin E by the SCFFbw7 ubiquitin ligase","volume":"294","author":"Koepp","year":"2001","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2022.03.002_bib62","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1242\/dev.118.2.401","article-title":"Targeted gene expression as a means of altering cell fates and generating dominant phenotypes","volume":"118","author":"Brand","year":"1993","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2022.03.002_bib63","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/ng.3792","article-title":"Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases","volume":"49","author":"Stessman","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib64","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1093\/hmg\/ddv482","article-title":"Early-onset sleep defects in Drosophila models of Huntington\u2019s disease reflect alterations of PKA\/CREB signaling","volume":"25","author":"Gonzales","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib65","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"},{"key":"10.1016\/j.ajhg.2022.03.002_bib66","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1007\/s00439-018-1892-1","article-title":"De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies","volume":"137","author":"Fritzen","year":"2018","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib67","doi-asserted-by":"crossref","first-page":"15454","DOI":"10.1038\/srep15454","article-title":"Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors","volume":"5","author":"Roversi","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2022.03.002_bib68","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1158\/2159-8290.CD-17-0151","article-title":"AACR Project GENIE: Powering Precision Medicine through an International Consortium","volume":"7","author":"Consortium","year":"2017","journal-title":"Cancer Discov."},{"key":"10.1016\/j.ajhg.2022.03.002_bib69","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/S2352-4642(19)30018-5","article-title":"Identification of new Wilms tumour predisposition genes: an exome sequencing study","volume":"3","author":"Mahamdallie","year":"2019","journal-title":"Lancet Child Adolesc. Health"},{"key":"10.1016\/j.ajhg.2022.03.002_bib70","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1056\/NEJMoa1516767","article-title":"Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation","volume":"376","author":"Posey","year":"2017","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2022.03.002_bib71","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1016\/j.cub.2004.09.083","article-title":"A nucleolar isoform of the Fbw7 ubiquitin ligase regulates c-Myc and cell size","volume":"14","author":"Welcker","year":"2004","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2022.03.002_bib72","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.bbrc.2006.09.003","article-title":"Expression of mouse Fbxw7 isoforms is regulated in a cell cycle- or p53-dependent manner","volume":"350","author":"Matsumoto","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2022.03.002_bib73","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1038\/35095076","article-title":"Human F-box protein hCdc4 targets cyclin E for proteolysis and is mutated in a breast cancer cell\u00a0line","volume":"413","author":"Strohmaier","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2022.03.002_bib74","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1016\/j.yexcr.2008.11.017","article-title":"SCF(Fbxw7\/hCdc4) targets cyclin E2 for ubiquitin-dependent proteolysis","volume":"315","author":"Klotz","year":"2009","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.ajhg.2022.03.002_bib75","doi-asserted-by":"crossref","first-page":"1540","DOI":"10.1046\/j.1471-4159.2002.01105.x","article-title":"SEL-10 interacts with presenilin 1, facilitates its ubiquitination, and alters A-beta peptide production","volume":"82","author":"Li","year":"2002","journal-title":"J.\u00a0Neurochem."},{"key":"10.1016\/j.ajhg.2022.03.002_bib76","doi-asserted-by":"crossref","first-page":"7403","DOI":"10.1128\/MCB.21.21.7403-7415.2001","article-title":"SEL-10 is an inhibitor of notch signaling that targets notch for ubiquitin-mediated protein degradation","volume":"21","author":"Wu","year":"2001","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2022.03.002_bib77","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/j.molcel.2017.10.018","article-title":"NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis","volume":"68","author":"Fukushima","year":"2017","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2022.03.002_bib78","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.4161\/cc.6.19.4804","article-title":"Fbw7 and Usp28 regulate myc protein stability in response to DNA damage","volume":"6","author":"Popov","year":"2007","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ajhg.2022.03.002_bib79","doi-asserted-by":"crossref","first-page":"4728","DOI":"10.1158\/0008-5472.CAN-10-0040","article-title":"The Fbw7 tumor suppressor targets KLF5 for ubiquitin-mediated degradation and suppresses breast cell proliferation","volume":"70","author":"Zhao","year":"2010","journal-title":"Cancer Res."},{"key":"10.1016\/j.ajhg.2022.03.002_bib80","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1126\/science.1092880","article-title":"The ubiquitin ligase SCFFbw7 antagonizes apoptotic JNK signaling","volume":"303","author":"Nateri","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2022.03.002_bib81","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1158\/1535-7163.MCT-17-0032","article-title":"FBW7-Dependent Mcl-1 Degradation Mediates the Anticancer Effect of Hsp90 Inhibitors","volume":"16","author":"Tong","year":"2017","journal-title":"Mol. Cancer Ther."},{"key":"10.1016\/j.ajhg.2022.03.002_bib82","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1016\/j.cell.2016.05.012","article-title":"Circadian Amplitude Regulation via FBXW7-Targeted REV-ERB\u03b1 Degradation","volume":"165","author":"Zhao","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2022.03.002_bib83","doi-asserted-by":"crossref","first-page":"12697","DOI":"10.18632\/oncotarget.3708","article-title":"FBXW7 and USP7 regulate CCDC6 turnover during the cell cycle and affect cancer drugs susceptibility in NSCLC","volume":"6","author":"Morra","year":"2015","journal-title":"Oncotarget"},{"key":"10.1016\/j.ajhg.2022.03.002_bib84","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1158\/0008-5472.CAN-12-3241","article-title":"Circadian regulation of mTOR by the ubiquitin pathway in renal cell carcinoma","volume":"74","author":"Okazaki","year":"2014","journal-title":"Cancer Res."},{"key":"10.1016\/j.ajhg.2022.03.002_bib85","doi-asserted-by":"crossref","first-page":"2531","DOI":"10.1101\/gad.229195.113","article-title":"Fbw7 dimerization determines the specificity and robustness of substrate degradation","volume":"27","author":"Welcker","year":"2013","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2022.03.002_bib86","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1038\/s41598-018-19769-1","article-title":"Establishment and analysis of a novel mouse line carrying a conditional knockin allele of a cancer-specific FBXW7 mutation","volume":"8","author":"Ikenoue","year":"2018","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2022.03.002_bib87","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1002\/path.2874","article-title":"FBXW7 mutations typically found in human cancers are distinct from null alleles and disrupt lung development","volume":"224","author":"Davis","year":"2011","journal-title":"J.\u00a0Pathol."},{"key":"10.1016\/j.ajhg.2022.03.002_bib88","doi-asserted-by":"crossref","first-page":"e1001586","DOI":"10.1371\/journal.pbio.1001586","article-title":"Fbw7 repression by hes5 creates a feedback loop that modulates Notch-mediated intestinal and neural stem cell fate decisions","volume":"11","author":"Sancho","year":"2013","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ajhg.2022.03.002_bib89","doi-asserted-by":"crossref","first-page":"e1003314","DOI":"10.1371\/journal.pgen.1003314","article-title":"The archipelago ubiquitin ligase subunit acts in target tissue to restrict tracheal terminal cell branching and hypoxic-induced gene expression","volume":"9","author":"Mortimer","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2022.03.002_bib90","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1073\/pnas.1912049116","article-title":"Systematic phenomics analysis of\u00a0autism-associated genes reveals parallel networks underlying\u00a0reversible impairments in habituation","volume":"117","author":"McDiarmid","year":"2020","journal-title":"Proc. Natl. Acad. Sci.\u00a0USA"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929722000982?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929722000982?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:20:50Z","timestamp":1762078850000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929722000982"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":90,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["S0002929722000982"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2022.03.002","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome","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.2022.03.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}