雜志介紹

Human Mutation雜志介紹

《Human Mutation》是一(yi)本以(yi)English為(wei)主(zhu)的(de)(de)(de)(de)未開(kai)放獲取國(guo)(guo)際優秀期刊(kan)，中文(wen)名稱人(ren)類(lei)突變，本刊(kan)主(zhu)要(yao)出版、報道(dao)醫(yi)學(xue)-GENETICS & HEREDITY領(ling)域的(de)(de)(de)(de)研究(jiu)動態以(yi)及在該領(ling)域取得(de)的(de)(de)(de)(de)各方(fang)面的(de)(de)(de)(de)經驗和科研成果(guo)，介紹該領(ling)域有關(guan)(guan)本專業(ye)(ye)的(de)(de)(de)(de)最新(xin)進展，探討行業(ye)(ye)發(fa)(fa)展的(de)(de)(de)(de)思(si)路和方(fang)法(fa)，以(yi)促進學(xue)術信(xin)息交流，提高行業(ye)(ye)發(fa)(fa)展。該刊(kan)已被國(guo)(guo)際權(quan)威數據庫SCIE收錄，為(wei)該領(ling)域相關(guan)(guan)學(xue)科的(de)(de)(de)(de)發(fa)(fa)展起到(dao)(dao)了良好的(de)(de)(de)(de)推動作用，也得(de)到(dao)(dao)了本專業(ye)(ye)人(ren)員(yuan)的(de)(de)(de)(de)廣泛認可。該刊(kan)最新(xin)影(ying)響因子為(wei)3.3，最新(xin)CiteScore 指(zhi)數為(wei)8.4。

本(ben)刊近(jin)期中(zhong)國學(xue)者發表的論(lun)文主要有：

• Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation.

  Author: Han M¹, Zhao M¹, Cheng C¹, Huang Y², Han S³, Li W¹, Tu X¹, Luo X¹, Yu X¹, Liu Y¹, Chen Q^4,5, Ren X¹, Wang QK^1,4,5, Ke T¹.

• A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.

  Author: Chen X^1,2, Jin J^1,3, Wang Q^1,4, Xue H^1,3, Zhang N¹, Du Y^1,5, Zhang T¹, Zhang B¹, Wu J¹, Liu Z¹.

• A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.

  Author: Sun M¹, Chen C¹, Hou S², Li X¹, Wang H³, Zhou J¹, Chen X¹, Liu P¹, Kijlstra A⁴, Lin S¹, Ye J¹.

• Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.

  Author: Guo XX¹, Zou XH¹, Wang C¹, Yao XP¹, Su HZ¹, Lai LL¹, Chen HT², Lai JH³, Liu YB⁴, Chen DP⁵, Deng YC⁶, Lin P⁷, Lin HS⁸, Hong BC⁹, Yao QY⁹, Chen XJ¹⁰, Huang DQ¹¹, Fu HX¹², Peng JD¹³, Niu YF¹⁴, Zhao YY¹⁵, Zhu XQ¹⁶, Lu XP¹⁷, Lin HL¹⁸, Li YK¹⁹, Liu CY²⁰, Huang GB²¹, Wang N^1,22, Chen WJ^1,22.

英文介紹

Human Mutation雜志英文介紹

Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.