{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T18:14:35Z","timestamp":1771265675278,"version":"3.50.1"},"reference-count":34,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["World Neurosurgery"],"published-print":{"date-parts":[[2021,8]]},"DOI":"10.1016\/j.wneu.2021.05.130","type":"journal-article","created":{"date-parts":[[2021,6,16]],"date-time":"2021-06-16T08:23:34Z","timestamp":1623831814000},"page":"198-205.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Clinical Usefulness of Genetic Testing For Patients with Moyamoya Disease: A Systematic Review"],"prefix":"10.1016","volume":"152","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2079-6125","authenticated-orcid":false,"given":"Nathan A.","family":"Shlobin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven C.","family":"Hoffman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1214-3645","authenticated-orcid":false,"given":"Jeffrey R.","family":"Clark","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca Y.","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandi","family":"Lam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.wneu.2021.05.130_bib1","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/PL00007286","article-title":"Clinical feature and outcome of pediatric cerebrovascular disease: a neurosurgical series","volume":"16","author":"Kim","year":"2000","journal-title":"Childs Nerv Syst"},{"key":"10.1016\/j.wneu.2021.05.130_bib2","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1136\/jnnp-2011-301387","article-title":"Regional differences in incidence and patient characteristics of moyamoya disease: a systematic review","volume":"83","author":"Kleinloog","year":"2012","journal-title":"J\u00a0Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.wneu.2021.05.130_bib3","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1016\/S1474-4422(08)70240-0","article-title":"Moyamoya disease: current concepts and future perspectives","volume":"7","author":"Kuroda","year":"2008","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.wneu.2021.05.130_bib4","first-page":"2","article-title":"Moyamoya disease: epidemiology, clinical features, and diagnosis","volume":"18","author":"Kim","year":"2016","journal-title":"J\u00a0Stroke"},{"key":"10.1016\/j.wneu.2021.05.130_bib5","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1056\/NEJMra0804622","article-title":"Moyamoya disease and moyamoya syndrome","volume":"360","author":"Scott","year":"2009","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.wneu.2021.05.130_bib6","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1161\/STROKEAHA.117.018563","article-title":"Surgical management of moyamoya disease","volume":"49","author":"Acker","year":"2018","journal-title":"Stroke"},{"key":"10.1016\/j.wneu.2021.05.130_bib7","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1136\/jnnp.2007.130666","article-title":"Novel epidemiological features of moyamoya disease","volume":"79","author":"Baba","year":"2008","journal-title":"J\u00a0Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.wneu.2021.05.130_bib8","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1161\/01.STR.14.1.104","article-title":"Moyamoya disease\u2013a review","volume":"14","author":"Suzuki","year":"1983","journal-title":"Stroke"},{"key":"10.1016\/j.wneu.2021.05.130_bib9","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1179\/1743132814Y.0000000351","article-title":"An update on the diagnosis and treatment of adult Moyamoya disease taking into consideration controversial issues","volume":"36","author":"Kim","year":"2014","journal-title":"Neurol Res"},{"key":"10.1016\/j.wneu.2021.05.130_bib10","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1007\/s00381-004-1118-9","article-title":"Revascularisation surgery for paediatric moyamoya: a review of the literature","volume":"21","author":"Fung","year":"2005","journal-title":"Childs Nerv Syst"},{"key":"10.1016\/j.wneu.2021.05.130_bib11","doi-asserted-by":"crossref","first-page":"663","DOI":"10.3171\/2019.6.PEDS19241","article-title":"Surgical outcomes for pediatric moyamoya: a systematic review and meta-analysis","volume":"24","author":"Ravindran","year":"2019","journal-title":"J\u00a0Neurosurg Pediatr"},{"key":"10.1016\/j.wneu.2021.05.130_bib12","first-page":"793","article-title":"Meta-analysis of the surgical outcomes of symptomatic moyamoya disease in adults","volume":"128","author":"Jeon","year":"2017","journal-title":"J\u00a0Neurosurg"},{"key":"10.1016\/j.wneu.2021.05.130_bib13","doi-asserted-by":"crossref","first-page":"e1000097","DOI":"10.1371\/journal.pmed.1000097","article-title":"Preferred Reporting Items for Systematic Reviews and Meta-Analyses: the PRISMA statement","volume":"6","author":"Moher","year":"2009","journal-title":"PLoS Med"},{"key":"10.1016\/j.wneu.2021.05.130_bib15","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1002\/gepi.20410","article-title":"STrengthening the REporting of Genetic Association Studies (STREGA)\u2014an extension of the STROBE statement","volume":"33","author":"Little","year":"2009","journal-title":"Genet Epidemiol"},{"key":"10.1016\/j.wneu.2021.05.130_bib16","series-title":"Experimental and Quasi-Experimental Designs for Generalized Causal Inference","author":"Shadish","year":"2002"},{"key":"10.1016\/j.wneu.2021.05.130_bib17","doi-asserted-by":"crossref","first-page":"662","DOI":"10.3389\/fneur.2019.00662","article-title":"Association between p. R4810K variant and long-term clinical outcome in patients with moyamoya disease","volume":"10","author":"Ge","year":"2019","journal-title":"Front Neurol"},{"key":"10.1016\/j.wneu.2021.05.130_bib18","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1159\/000503250","article-title":"Association between p. R4810K variant and postoperative collateral formation in patients with moyamoya disease","volume":"48","author":"Ge","year":"2019","journal-title":"Cerebrovasc Dis"},{"key":"10.1016\/j.wneu.2021.05.130_bib19","doi-asserted-by":"crossref","first-page":"876","DOI":"10.3346\/jkms.2003.18.6.876","article-title":"Associations of Moyamoya patients with HLA class I and class II alleles in the Korean population","volume":"18","author":"Han","year":"2003","journal-title":"J\u00a0Korean Med Sci"},{"key":"10.1016\/j.wneu.2021.05.130_bib20","doi-asserted-by":"crossref","first-page":"302","DOI":"10.3892\/etm.2014.1713","article-title":"Expression of circulating vascular endothelial growth factor-antagonizing cytokines and vascular stabilizing factors prior to and following bypass surgery in patients with moyamoya disease","volume":"8","author":"He","year":"2014","journal-title":"Exp Ther Med"},{"key":"10.1016\/j.wneu.2021.05.130_bib21","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/j.jstrokecerebrovasdis.2018.10.004","article-title":"Differential expression of vascular endothelial growth factor-A165 isoforms between intracranial atherosclerosis and moyamoya disease","volume":"28","author":"Jiang","year":"2019","journal-title":"J\u00a0Stroke Cerebrovasc Dis"},{"key":"10.1016\/j.wneu.2021.05.130_bib22","first-page":"1221","article-title":"Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease","volume":"124","author":"Kim","year":"2016","journal-title":"J\u00a0Neurosurg"},{"key":"10.1016\/j.wneu.2021.05.130_bib23","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1212\/WNL.0b013e318249f71f","article-title":"Homozygous c. 14576G> A variant of RNF213 predicts early-onset and severe form of moyamoya disease","volume":"78","author":"Miyatake","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.wneu.2021.05.130_bib24","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1159\/000499699","article-title":"Genotype-phenotype correlation in long-term cohort of Japanese patients with moyamoya disease","volume":"47","author":"Nomura","year":"2019","journal-title":"Cerebrovasc Dis"},{"key":"10.1016\/j.wneu.2021.05.130_bib25","doi-asserted-by":"crossref","first-page":"e47158","DOI":"10.1371\/journal.pone.0047158","article-title":"The role of VEGF and KDR polymorphisms in moyamoya disease and collateral revascularization","volume":"7","author":"Park","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.wneu.2021.05.130_bib26","doi-asserted-by":"crossref","first-page":"e678","DOI":"10.1212\/WNL.0000000000008901","article-title":"Predictive role of heterozygous p. R4810K of RNF213 in the phenotype of Chinese moyamoya disease","volume":"94","author":"Wang","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.wneu.2021.05.130_bib27","first-page":"1106","article-title":"RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance","volume":"126","author":"Zhang","year":"2017","journal-title":"J\u00a0Neurosurg"},{"key":"10.1016\/j.wneu.2021.05.130_bib28","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1177\/0883073819858264","article-title":"Clinical features and surgical outcomes of patients with moyamoya disease and the homozygous RNF213 p. R4810K variant","volume":"34","author":"Zhang","year":"2019","journal-title":"J\u00a0Child Neurol"},{"key":"10.1016\/j.wneu.2021.05.130_bib29","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/j.ajhg.2009.04.007","article-title":"Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease","volume":"84","author":"Guo","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.wneu.2021.05.130_bib30","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.bbrc.2013.07.004","article-title":"Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G> A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients","volume":"438","author":"Hitomi","year":"2013","journal-title":"Biochem Biophys Res Comm"},{"key":"10.1016\/j.wneu.2021.05.130_bib31","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1007\/s12199-009-0116-7","article-title":"A\u00a0rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians","volume":"15","author":"Liu","year":"2010","journal-title":"Environ Health Prev Med"},{"key":"10.1016\/j.wneu.2021.05.130_bib32","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1159\/000319893","article-title":"Association of a functional polymorphism in the MMP-3 gene with Moyamoya Disease in the Chinese Han population","volume":"30","author":"Li","year":"2010","journal-title":"Cerebrovasc Dis"},{"key":"10.1016\/j.wneu.2021.05.130_bib33","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/cge.12739","article-title":"Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension","volume":"90","author":"Martin","year":"2016","journal-title":"Clin Genet"},{"key":"10.1016\/j.wneu.2021.05.130_bib34","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/cge.12739","article-title":"Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension","volume":"90","author":"Wallace","year":"2016","journal-title":"Clin Genet"},{"key":"10.1016\/j.wneu.2021.05.130_bib35","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1016\/j.ajhg.2011.04.017","article-title":"Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya","volume":"88","author":"Miskinyte","year":"2011","journal-title":"Am J Hum Genet"}],"container-title":["World Neurosurgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1878875021008251?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1878875021008251?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T08:57:40Z","timestamp":1761814660000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1878875021008251"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8]]},"references-count":34,"alternative-id":["S1878875021008251"],"URL":"https:\/\/doi.org\/10.1016\/j.wneu.2021.05.130","relation":{},"ISSN":["1878-8750"],"issn-type":[{"value":"1878-8750","type":"print"}],"subject":[],"published":{"date-parts":[[2021,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical Usefulness of Genetic Testing For Patients with Moyamoya Disease: A Systematic Review","name":"articletitle","label":"Article Title"},{"value":"World Neurosurgery","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.wneu.2021.05.130","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}