{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T19:14:24Z","timestamp":1783970064505,"version":"3.55.0"},"reference-count":17,"publisher":"Impact Journals, LLC","issue":"48","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oncotarget"],"published-print":{"date-parts":[[2016,11,29]]},"DOI":"10.18632\/oncotarget.13279","type":"journal-article","created":{"date-parts":[[2016,11,11]],"date-time":"2016-11-11T03:36:08Z","timestamp":1478835368000},"page":"78363-78371","source":"Crossref","is-referenced-by-count":9,"title":["Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2"],"prefix":"10.18632","volume":"7","author":[{"given":"Santasree","family":"Banerjee","sequence":"first","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huishuang","family":"Chen","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Huang","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wu","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging, 1st affiliated hospital, Sun Yat-sen University, Guangzhou, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiping","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongna","family":"Chen","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianlian","family":"Deng","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Su","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Li","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology, 1st affiliated hospital, Sun Yat-sen University, Guangzhou, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Center for Genome Research, Sun Yat-sen University, Guangzhou, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Center for Genome Research, Sun Yat-sen University, Guangzhou, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiming","family":"Wang","sequence":"additional","affiliation":[{"name":"Xinhua College, Sun Yat-sen university, Guangzhou, PR China"},{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xunhua","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, 1st affiliated hospital, Sun Yat-sen University, Guangzhou, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7892","published-online":{"date-parts":[[2016,11,10]]},"reference":[{"key":"1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.ejmg.2011.01.001","article-title":"Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?","volume":"54","author":"Hennekam","year":"2011","journal-title":"Eur J Med Genet"},{"key":"2","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1086\/316909","article-title":"Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32","volume":"67","author":"Abramowicz","year":"2000","journal-title":"Am J Hum Genet"},{"key":"3","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1038\/ng.682","article-title":"WDR62 is associated with the spindle pole is mutated in human microcephaly","volume":"42","author":"Woods","year":"2010","journal-title":"Nat Gen"},{"key":"4","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/BF00313723","article-title":"A biometric analysis of brain size in micrencephalics","volume":"231","author":"Hofman","year":"1984","journal-title":"J. Neurol"},{"key":"5","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1186\/1750-1172-8-178","article-title":"Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation","volume":"8","author":"Kaindl","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"6","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1038\/ng.682","article-title":"WDR62 is associated with the spindle pole is mutated in human microcephaly","volume":"42","author":"Woods","year":"2010","journal-title":"Nat Gen"},{"key":"7","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/nature09327","article-title":"Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations","volume":"467","author":"Gunel","year":"2010","journal-title":"Nature"},{"key":"8","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1038\/ng683","article-title":"Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri, abnormal cortical architecture","volume":"42","author":"Walsh","year":"2010","journal-title":"Nat Gen"},{"key":"9","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1750-1172-6-39","article-title":"Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum","volume":"6","author":"Hassan","year":"2011","journal-title":"Orphanet journal of rare diseases"},{"key":"10","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Seelow","year":"2010","journal-title":"Nat Methods"},{"key":"11","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method, server for predicting damaging missense mutations","volume":"7","author":"Sunyaev","year":"2010","journal-title":"Nat Methods"},{"key":"12","doi-asserted-by":"crossref","first-page":"W306","DOI":"10.1093\/nar\/gki375","article-title":"I-Mutant2. 0: predicting stability changes upon mutation from the protein sequence or structure","volume":"33","author":"Casadio","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"13","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG Laboratory Quality Assurance Committee. 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":"Rehm","year":"2015","journal-title":"Genet Med"},{"key":"14","doi-asserted-by":"publisher","first-page":"5096","DOI":"10.1242\/jcs.107326","article-title":"WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance, timely mitotic progression","volume":"125","author":"Ng","year":"2012","journal-title":"J Cell Sci"},{"key":"15","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1038\/ng.682","article-title":"WDR62 is associated with the spindle pole, is mutated in human microcephaly","volume":"42","author":"Woods","year":"2010","journal-title":"Nat Gen"},{"key":"16","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1007\/s00439-015-1539-4","article-title":"Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions, frequent repair of double-strand breaks by templated insertions derived from remote genomic regions","volume":"6","author":"Wang","year":"2015","journal-title":"Hum Genet"},{"issue":"23","key":"17","first-page":"2947","article-title":"Clustal W and Clustal X version 2. 0","volume":"1","author":"Higgins","year":"2007","journal-title":"Bioinformatics"}],"container-title":["Oncotarget"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.oncotarget.com\/lookup\/doi\/10.18632\/oncotarget.13279","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T15:17:12Z","timestamp":1589296632000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.oncotarget.com\/lookup\/doi\/10.18632\/oncotarget.13279"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,10]]},"references-count":17,"journal-issue":{"issue":"48","published-print":{"date-parts":[[2016,11,29]]}},"alternative-id":["13279","27852057"],"URL":"https:\/\/doi.org\/10.18632\/oncotarget.13279","relation":{},"ISSN":["1949-2553"],"issn-type":[{"value":"1949-2553","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,10]]}}}