{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T14:49:42Z","timestamp":1792507782906,"version":"4.5.0"},"reference-count":50,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,7,7]],"date-time":"2021-07-07T00:00:00Z","timestamp":1625616000000},"content-version":"vor","delay-in-days":187,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP142243"],"award-info":[{"award-number":["MOP142243"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000156","name":"Fonds de Recherche du Qu\u00e9bec - Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000245","name":"Michael Smith Foundation for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001321","name":"National Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001321","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003621","name":"Ministry of Science, ICT and Future Planning","doi-asserted-by":"publisher","award":["NRF-2016R1A2B3011389"],"award-info":[{"award-number":["NRF-2016R1A2B3011389"]}],"id":[{"id":"10.13039\/501100003621","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003621","name":"Ministry of Science, ICT and Future Planning","doi-asserted-by":"publisher","award":["NRF-2020R1A5A1019023"],"award-info":[{"award-number":["NRF-2020R1A5A1019023"]}],"id":[{"id":"10.13039\/501100003621","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","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":[[2021,1]]},"DOI":"10.1016\/j.ajhg.2020.11.018","type":"journal-article","created":{"date-parts":[[2020,12,18]],"date-time":"2020-12-18T10:47:26Z","timestamp":1608288446000},"page":"134-147","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism"],"prefix":"10.1016","volume":"108","author":[{"given":"Chunmei","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliane","family":"Beauregard-Lacroix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Kondratev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Rousseau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ah Jung","family":"Heo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Neas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brett H.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A.","family":"Bacino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matias","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maren","family":"Wenzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuad","family":"Al Mutairi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamad","family":"Al Deiab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Stanley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong Tae","family":"Kwon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel R.","family":"Leroux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe M.","family":"Campeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2020.11.018_bib1","doi-asserted-by":"crossref","first-page":"aac4354","DOI":"10.1126\/science.aac4354","article-title":"In\u00a0vivo aspects of protein folding and quality control","volume":"353","author":"Balchin","year":"2016","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2020.11.018_bib2","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1038\/nrm2468","article-title":"Diversity of degradation signals in the ubiquitin-proteasome system","volume":"9","author":"Ravid","year":"2008","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib3","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1126\/science.3018930","article-title":"In\u00a0vivo half-life of a protein is a function of its amino-terminal residue","volume":"234","author":"Bachmair","year":"1986","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2020.11.018_bib4","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.tibs.2007.08.010","article-title":"The mammalian N-end rule pathway: new insights into its components and physiological roles","volume":"32","author":"Tasaki","year":"2007","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.ajhg.2020.11.018_bib5","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1158\/1541-7786.MCR-15-0383","article-title":"Functional Roles of the E3\u00a0Ubiquitin Ligase UBR5 in Cancer","volume":"13","author":"Shearer","year":"2015","journal-title":"Mol. Cancer Res."},{"key":"10.1016\/j.ajhg.2020.11.018_bib6","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1007\/s10555-017-9703-z","article-title":"E3 ubiquitin ligases in cancer and implications for therapies","volume":"36","author":"Wang","year":"2017","journal-title":"Cancer Metastasis Rev."},{"key":"10.1016\/j.ajhg.2020.11.018_bib7","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nrm.2017.83","article-title":"Ubiquitylation at the crossroads of development and disease","volume":"19","author":"Rape","year":"2018","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib8","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/978-3-030-38266-7_8","article-title":"The Ubiquitin System in Alzheimer\u2019s Disease","volume":"1233","author":"Harris","year":"2020","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib9","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1038\/ng1681","article-title":"Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)","volume":"37","author":"Zenker","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.11.018_bib10","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1038\/ejhg.2013.173","article-title":"A novel locus for episodic ataxia:UBR4 the likely candidate","volume":"22","author":"Conroy","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.018_bib11","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1136\/jmedgenet-2012-100856","article-title":"Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability","volume":"49","author":"Thevenon","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2020.11.018_bib12","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1093\/brain\/awu202","article-title":"TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment","volume":"137","author":"Delplanque","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2020.11.018_bib13","doi-asserted-by":"crossref","first-page":"6212","DOI":"10.1073\/pnas.0601700103","article-title":"Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway","volume":"103","author":"An","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2020.11.018_bib14","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1152\/physrev.00005.2017","article-title":"Notch Signaling in Development, Tissue Homeostasis, and Disease","volume":"97","author":"Siebel","year":"2017","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.ajhg.2020.11.018_bib15","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1534\/g3.116.027805","article-title":"UBR-5, a Conserved HECT-Type E3\u00a0Ubiquitin Ligase, Negatively Regulates Notch-Type Signaling in Caenorhabditis elegans","volume":"6","author":"Safdar","year":"2016","journal-title":"G3 (Bethesda)"},{"key":"10.1016\/j.ajhg.2020.11.018_bib16","doi-asserted-by":"crossref","first-page":"e0157079","DOI":"10.1371\/journal.pone.0157079","article-title":"Use of a Conditional Ubr5 Mutant Allele to Investigate the Role of an N-End Rule Ubiquitin-Protein Ligase in Hedgehog Signalling and Embryonic Limb Development","volume":"11","author":"Kinsella","year":"2016","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2020.11.018_bib17","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/ajmg.c.30231","article-title":"Making sense of cilia in disease: the human ciliopathies","volume":"151C","author":"Baker","year":"2009","journal-title":"Am. J. Med. Genet. C. Semin. Med. Genet."},{"key":"10.1016\/j.ajhg.2020.11.018_bib18","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/nrm.2017.60","article-title":"Genes and molecular pathways underpinning ciliopathies","volume":"18","author":"Reiter","year":"2017","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib19","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/jhg.2016.151","article-title":"Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails","volume":"62","author":"Kariminejad","year":"2017","journal-title":"J.\u00a0Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.018_bib20","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1001\/jama.2014.14601","article-title":"Molecular findings among patients referred for clinical whole-exome sequencing","volume":"312","author":"Yang","year":"2014","journal-title":"JAMA"},{"key":"10.1016\/j.ajhg.2020.11.018_bib21","doi-asserted-by":"crossref","first-page":"4790","DOI":"10.1038\/s41467-019-12620-9","article-title":"Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia","volume":"10","author":"Wagner","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2020.11.018_bib22","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1126\/science.1247363","article-title":"Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders","volume":"343","author":"Novarino","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2020.11.018_bib23","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/S0091-679X(08)93014-4","article-title":"Functional genomics of intraflagellar transport-associated proteins in C. elegans","volume":"93","author":"Inglis","year":"2009","journal-title":"Methods Cell Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib24","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1006\/dbio.1993.1146","article-title":"Isolation and characterization of mutations causing abnormal eversion of the vulva in Caenorhabditis elegans","volume":"157","author":"Seydoux","year":"1993","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib25","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1083\/jcb.200707090","article-title":"The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure","volume":"180","author":"Jauregui","year":"2008","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib26","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/bs.mcb.2015.01.010","article-title":"Image analysis of Caenorhabditis elegans ciliary transition zone structure, ultrastructure, molecular composition, and function","volume":"127","author":"Sanders","year":"2015","journal-title":"Methods Cell Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib27","doi-asserted-by":"crossref","first-page":"e1006469","DOI":"10.1371\/journal.pgen.1006469","article-title":"Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport","volume":"12","author":"Jensen","year":"2016","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2020.11.018_bib28","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1895\/wormbook.1.10.2","article-title":"Notch signaling: genetics and structure","volume":"17","author":"Greenwald","year":"2013","journal-title":"WormBook"},{"key":"10.1016\/j.ajhg.2020.11.018_bib29","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1016\/j.semcdb.2009.09.005","article-title":"Scratching the niche that controls Caenorhabditis elegans germline stem cells","volume":"20","author":"Byrd","year":"2009","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib30","doi-asserted-by":"crossref","first-page":"eaax1971","DOI":"10.1126\/science.aax1971","article-title":"A lineage-resolved molecular atlas of C.\u00a0elegans embryogenesis at single-cell resolution","volume":"365","author":"Packer","year":"2019","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2020.11.018_bib31","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/349132a0","article-title":"Cyclin is degraded by the ubiquitin pathway","volume":"349","author":"Glotzer","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2020.11.018_bib32","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.semcdb.2012.04.005","article-title":"Coordination of cell growth and division by the ubiquitin-proteasome system","volume":"23","author":"Benanti","year":"2012","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib33","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1038\/nsmb.2780","article-title":"New insights into ubiquitin E3 ligase mechanism","volume":"21","author":"Berndsen","year":"2014","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib34","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.2020.11.018_bib35","doi-asserted-by":"crossref","first-page":"8255","DOI":"10.1128\/MCB.23.22.8255-8271.2003","article-title":"Female lethality and apoptosis of spermatocytes in mice lacking the UBR2 ubiquitin ligase of the N-end rule pathway","volume":"23","author":"Kwon","year":"2003","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib36","doi-asserted-by":"crossref","first-page":"8007","DOI":"10.1128\/MCB.21.23.8007-8021.2001","article-title":"Construction and analysis of mouse strains lacking the ubiquitin ligase UBR1 (E3alpha) of the N-end rule pathway","volume":"21","author":"Kwon","year":"2001","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib37","doi-asserted-by":"crossref","first-page":"104R","DOI":"10.1203\/01.PDR.0000159632.70510.3D","article-title":"Notch signaling, brain development, and human disease","volume":"57","author":"Lasky","year":"2005","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ajhg.2020.11.018_bib38","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s40618-017-0715-x","article-title":"Role of Jagged1-Notch pathway in thyroid development","volume":"41","author":"Marelli","year":"2018","journal-title":"J.\u00a0Endocrinol. Invest."},{"key":"10.1016\/j.ajhg.2020.11.018_bib39","doi-asserted-by":"crossref","first-page":"5645","DOI":"10.1210\/en.2011-1888","article-title":"Disruptions of global and JAGGED1-mediated notch signaling affect thyroid morphogenesis in the zebrafish","volume":"153","author":"Porazzi","year":"2012","journal-title":"Endocrinology"},{"key":"10.1016\/j.ajhg.2020.11.018_bib40","doi-asserted-by":"crossref","first-page":"4092","DOI":"10.1038\/s41598-018-22384-9","article-title":"Insights into the ubiquitin-proteasome system of human embryonic stem cells","volume":"8","author":"Saez","year":"2018","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2020.11.018_bib41","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/S0070-2153(10)92012-7","article-title":"Notch signaling in the regulation of stem cell self-renewal and differentiation","volume":"92","author":"Liu","year":"2010","journal-title":"Curr. Top. Dev. Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib42","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/0012-1606(81)90284-0","article-title":"On the control of germ cell development in Caenorhabditis elegans","volume":"81","author":"Kimble","year":"1981","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib43","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.chembiol.2017.10.001","article-title":"A Chemical Proteomics Approach to Reveal Direct Protein-Protein Interactions in Living Cells","volume":"25","author":"Kleiner","year":"2018","journal-title":"Cell Chem. Biol."},{"key":"10.1016\/j.ajhg.2020.11.018_bib44","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/j.molcel.2015.08.005","article-title":"Analysis of the Histone H3.1 Interactome: A Suitable Chaperone for the Right Event","volume":"60","author":"Campos","year":"2015","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2020.11.018_bib45","doi-asserted-by":"crossref","first-page":"e37414","DOI":"10.1371\/journal.pone.0037414","article-title":"UBR2 of the N-end rule pathway is required for chromosome stability via histone ubiquitylation in spermatocytes and somatic cells","volume":"7","author":"An","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2020.11.018_bib46","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/j.cell.2012.06.039","article-title":"TRIP12 and UBR5 suppress spreading of chromatin ubiquitylation at damaged chromosomes","volume":"150","author":"Gudjonsson","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2020.11.018_bib47","doi-asserted-by":"crossref","first-page":"8565","DOI":"10.1038\/s41598-017-08923-w","article-title":"Multiple E3s promote the degradation of histone H3 variant Cse4","volume":"7","author":"Cheng","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2020.11.018_bib48","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1038\/s41467-019-08986-5","article-title":"Atypical plant homeodomain of UBR7 functions as an H2BK120Ub ligase and breast tumor suppressor","volume":"10","author":"Adhikary","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2020.11.018_bib49","doi-asserted-by":"crossref","first-page":"3841","DOI":"10.1073\/pnas.1502971112","article-title":"Chromatin proteomic profiling reveals novel proteins associated with histone-marked genomic regions","volume":"112","author":"Ji","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2020.11.018_bib50","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1091\/mbc.E17-04-0248","article-title":"The E3 ubiquitin ligase UBR5 regulates centriolar satellite stability and primary cilia","volume":"29","author":"Shearer","year":"2018","journal-title":"Mol. Biol. Cell"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929720304365?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929720304365?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:19:20Z","timestamp":1757575160000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929720304365"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":50,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["S0002929720304365"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2020.11.018","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2021,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism","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.2020.11.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}