{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T12:27:12Z","timestamp":1790771232005,"version":"4.1.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DFG RTG PRO 2719\/ B4"],"award-info":[{"award-number":["DFG RTG PRO 2719\/ B4"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFBTR 167 TP A4"],"award-info":[{"award-number":["SFBTR 167 TP A4"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFBTR 186 TP A13"],"award-info":[{"award-number":["SFBTR 186 TP A13"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.gim.2021.09.005","type":"journal-article","created":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T14:52:01Z","timestamp":1638283921000},"page":"179-191","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"title":["Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype"],"prefix":"10.1016","volume":"24","author":[{"given":"Bertrand","family":"Isidor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Ebstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vincent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Bader","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha L.","family":"Rudy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Mayr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Brehm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caleb","family":"Bupp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Warren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A.","family":"Bacino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Gerard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith D.","family":"Ranells","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay A.","family":"Metcalfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yolande","family":"van Bever","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong-Hui","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryce A.","family":"Mendelssohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Cope","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick R.","family":"Blackburn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"McKinsey L.","family":"Goodenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hutton M.","family":"Kearney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Kennedy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Scurr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krzysztof","family":"Szczaluba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafal","family":"Ploski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"de Saint Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Alembik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lie","family":"Piton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ange-Line","family":"Bruel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Thauvin-Robinet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alanna","family":"Strong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin E.M.","family":"Diderich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bourgeois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Dahan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Vignard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Colin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magalie","family":"Barth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Camby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Brice\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wallid","family":"Deb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sol\u00e8ne","family":"Conrad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Besnard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"B\u00e9zieau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke","family":"Kr\u00fcger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"K\u00fcry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawe\u0197","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.gim.2021.09.005_bib1","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.ajhg.2017.01.003","article-title":"De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder","volume":"100","author":"K\u00fcry","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"8","key":"10.1016\/j.gim.2021.09.005_bib2","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1002\/ajmg.b.32688","article-title":"PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features","volume":"177","author":"Khalil","year":"2018","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"4","key":"10.1016\/j.gim.2021.09.005_bib3","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/j.ajhg.2017.08.014","article-title":"Haploinsufficiency of the chromatin remodeler BPTF causes syndromic developmental and speech delay, postnatal microcephaly, and dysmorphic features","volume":"101","author":"Stankiewicz","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"9","key":"10.1016\/j.gim.2021.09.005_bib4","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1016\/j.str.2013.08.010","article-title":"Unveiling the long-held secrets of the 26S proteasome","volume":"21","author":"F\u00f6rster","year":"2013","journal-title":"Structure"},{"issue":"7","key":"10.1016\/j.gim.2021.09.005_bib5","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1091\/mbc.e10-08-0655","article-title":"Dual function of Rpn5 in two PCI complexes, the 26S proteasome and COP9 signalosome","volume":"22","author":"Yu","year":"2011","journal-title":"Mol Biol Cell"},{"issue":"1","key":"10.1016\/j.gim.2021.09.005_bib6","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.bbrc.2018.08.159","article-title":"Solution structure of the N-terminal domain of proteasome lid subunit Rpn5","volume":"504","author":"Zhang","year":"2018","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.gim.2021.09.005_bib7","article-title":"Generation of Epstein\u2013Barr virus (EBV)-immortalized B cell lines","volume":"Chapter 7:Unit 7.22","author":"Tosato","year":"2007","journal-title":"Curr Protoc Immunol"},{"issue":"1-2","key":"10.1016\/j.gim.2021.09.005_bib8","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/S0022-1759(01)00477-X","article-title":"Generation of high quantities of viral and tumor-specific human CD4+ and CD8+ T-cell\u00a0clones using peptide pulsed mature dendritic cells","volume":"258","author":"Fonteneau","year":"2001","journal-title":"J\u00a0Immunol Methods"},{"issue":"2","key":"10.1016\/j.gim.2021.09.005_bib9","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s10875-016-0359-1","article-title":"Assessment of Type I interferon signaling in pediatric inflammatory disease","volume":"37","author":"Rice","year":"2017","journal-title":"J\u00a0Clin Immunol"},{"issue":"1","key":"10.1016\/j.gim.2021.09.005_bib10","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.molcel.2010.09.012","article-title":"Proteasomal degradation is transcriptionally controlled by TCF11 via an ERAD-dependent feedback loop","volume":"40","author":"Steffen","year":"2010","journal-title":"Mol Cell"},{"issue":"1","key":"10.1016\/j.gim.2021.09.005_bib11","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.molcel.2010.02.029","article-title":"Transcription factor Nrf1 mediates the proteasome recovery pathway after proteasome inhibition in mammalian cells","volume":"38","author":"Radhakrishnan","year":"2010","journal-title":"Mol Cell"},{"issue":"7","key":"10.1016\/j.gim.2021.09.005_bib12","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.201911861","article-title":"Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress","volume":"12","author":"Kr\u00f6ll-Hermi","year":"2020","journal-title":"EMBO Mol Med"},{"issue":"6","key":"10.1016\/j.gim.2021.09.005_bib13","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1016\/j.cell.2017.02.004","article-title":"MTOR signaling in growth, metabolism, and disease","volume":"168","author":"Saxton","year":"2017","journal-title":"Cell"},{"issue":"10","key":"10.1016\/j.gim.2021.09.005_bib14","doi-asserted-by":"crossref","first-page":"2570","DOI":"10.1128\/MCB.00166-09","article-title":"Hypoxia-induced autophagy is mediated through hypoxia-inducible factor induction of BNIP3 and BNIP3L via their BH3 domains","volume":"29","author":"Bellot","year":"2009","journal-title":"Mol Cell Biol"},{"issue":"5516","key":"10.1016\/j.gim.2021.09.005_bib15","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1126\/science.1059817","article-title":"HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing","volume":"292","author":"Ivan","year":"2001","journal-title":"Science"},{"issue":"5516","key":"10.1016\/j.gim.2021.09.005_bib16","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1126\/science.1059796","article-title":"Targeting of HIF-alpha to the von Hippel\u2013Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation","volume":"292","author":"Jaakkola","year":"2001","journal-title":"Science"},{"issue":"17","key":"10.1016\/j.gim.2021.09.005_bib17","doi-asserted-by":"crossref","first-page":"9630","DOI":"10.1073\/pnas.181341498","article-title":"HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation","volume":"98","author":"Yu","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"23","key":"10.1016\/j.gim.2021.09.005_bib18","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.132826","article-title":"Mitophagy-dependent macrophage reprogramming protects against kidney fibrosis","volume":"4","author":"Bhatia","year":"2019","journal-title":"JCI Insight"},{"issue":"1","key":"10.1016\/j.gim.2021.09.005_bib19","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/BF00990964","article-title":"Proteasomes of the yeast S cerevisiae: genes, structure and functions","volume":"21","author":"Hilt","year":"1995","journal-title":"Mol Biol Rep"},{"issue":"36","key":"10.1016\/j.gim.2021.09.005_bib20","doi-asserted-by":"crossref","first-page":"14914","DOI":"10.1073\/pnas.1106015108","article-title":"Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome","volume":"108","author":"Arima","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"10","key":"10.1016\/j.gim.2021.09.005_bib21","doi-asserted-by":"crossref","first-page":"4150","DOI":"10.1172\/JCI58414","article-title":"A\u00a0mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans","volume":"121","author":"Kitamura","year":"2011","journal-title":"J\u00a0Clin Invest"},{"issue":"3","key":"10.1016\/j.gim.2021.09.005_bib22","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1002\/art.33368","article-title":"Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity","volume":"64","author":"Liu","year":"2012","journal-title":"Arthritis Rheum"},{"issue":"11","key":"10.1016\/j.gim.2021.09.005_bib23","doi-asserted-by":"crossref","first-page":"4196","DOI":"10.1172\/JCI81260","article-title":"Additive loss-of-function proteasome subunit mutations in CANDLE\/PRAAS patients promote type I IFN production","volume":"125","author":"Brehm","year":"2015","journal-title":"J\u00a0Clin Invest"},{"issue":"6","key":"10.1016\/j.gim.2021.09.005_bib24","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1016\/j.ajhg.2018.04.010","article-title":"Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome","volume":"102","author":"Poli","year":"2018","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.gim.2021.09.005_bib25","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1016\/j.jaci.2018.12.1012","article-title":"Novel proteasome assembly chaperone mutations in PSMG2\/PAC2 cause the autoinflammatory interferonopathy CANDLE\/PRAAS4","volume":"143","author":"de Jesus","year":"2019","journal-title":"J\u00a0Allergy Clin Immunol"},{"issue":"3","key":"10.1016\/j.gim.2021.09.005_bib26","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1016\/j.jaci.2019.11.024","article-title":"PSMB10, the last immunoproteasome gene missing for PRAAS","volume":"145","author":"Sarrabay","year":"2020","journal-title":"J\u00a0Allergy Clin Immunol"},{"issue":"2","key":"10.1016\/j.gim.2021.09.005_bib27","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.jaci.2021.03.010","article-title":"Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor","volume":"148","author":"Kataoka","year":"2021","journal-title":"J\u00a0Allergy Clin Immunol"},{"issue":"2","key":"10.1016\/j.gim.2021.09.005_bib28","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1089\/bio.2015.0037","article-title":"Effects of transport and storage conditions on gene expression in blood samples","volume":"14","author":"Malentacchi","year":"2016","journal-title":"Biopreserv Biobank"},{"issue":"2","key":"10.1016\/j.gim.2021.09.005_bib29","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1105\/tpc.108.064444","article-title":"The RPN5 subunit of the 26s proteasome is essential for gametogenesis, sporophyte development, and complex assembly in Arabidopsis","volume":"21","author":"Book","year":"2009","journal-title":"Plant Cell"},{"issue":"1","key":"10.1016\/j.gim.2021.09.005_bib30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/geno.2000.6231","article-title":"Mouse proteasomal ATPases Psmc3 and Psmc4: genomic organization and gene targeting","volume":"67","author":"Sakao","year":"2000","journal-title":"Genomics"},{"issue":"5","key":"10.1016\/j.gim.2021.09.005_bib31","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/j.celrep.2015.03.069","article-title":"DNA-damage-induced type I interferon promotes senescence and inhibits stem cell function","volume":"11","author":"Yu","year":"2015","journal-title":"Cell Rep"},{"issue":"1","key":"10.1016\/j.gim.2021.09.005_bib32","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"},{"issue":"7","key":"10.1016\/j.gim.2021.09.005_bib33","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/nri3850","article-title":"Aicardi-Goutieres syndrome and the type I interferonopathies","volume":"15","author":"Crow","year":"2015","journal-title":"Nat Rev Immunol"},{"issue":"6","key":"10.1016\/j.gim.2021.09.005_bib34","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1055\/s-0036-1592307","article-title":"Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutieres syndrome and beyond","volume":"47","author":"Livingston","year":"2016","journal-title":"Neuropediatrics"},{"issue":"1","key":"10.1016\/j.gim.2021.09.005_bib35","doi-asserted-by":"crossref","first-page":"14818","DOI":"10.1038\/s41598-017-13858-3","article-title":"Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation","volume":"7","author":"Sullivan","year":"2017","journal-title":"Sci Rep"},{"key":"10.1016\/j.gim.2021.09.005_bib36","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.16220","article-title":"Trisomy 21 consistently activates the interferon response","volume":"5","author":"Sullivan","year":"2016","journal-title":"ELife"},{"issue":"7","key":"10.1016\/j.gim.2021.09.005_bib37","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1016\/j.celrep.2019.10.038","article-title":"Mass cytometry reveals global immune remodeling with multi-lineage hypersensitivity to Type I interferon in Down syndrome","volume":"29","author":"Waugh","year":"2019","journal-title":"Cell Rep"},{"issue":"7","key":"10.1016\/j.gim.2021.09.005_bib38","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1093\/hmg\/ddaa032","article-title":"Biallelic variants in PSMB1 encoding the proteasome subunit beta 6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature","volume":"29","author":"Ansar","year":"2020","journal-title":"Hum Mol Genet"},{"issue":"6","key":"10.1016\/j.gim.2021.09.005_bib39","doi-asserted-by":"crossref","first-page":"920","DOI":"10.3390\/v3060920","article-title":"Pattern recognition receptors and the innate immune response to viral infection","volume":"3","author":"Thompson","year":"2011","journal-title":"Viruses"},{"key":"10.1016\/j.gim.2021.09.005_bib40","doi-asserted-by":"crossref","first-page":"141","DOI":"10.3389\/fimmu.2018.00141","article-title":"A\u00a0role for the Krebs cycle intermediate citrate in metabolic reprogramming in innate immunity and inflammation","volume":"9","author":"Williams","year":"2018","journal-title":"Front Immunol"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021041320?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021041320?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:51:33Z","timestamp":1761097893000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021041320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["S1098360021041320"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2021.09.005","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2021.09.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 by American College of Medical Genetics and Genomics. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}