雜志介紹

Human Mutation雜志介紹

《Human Mutation》是一本以English為主的未開(kāi)放獲取國(guó)際優(yōu)秀期刊，中文名稱(chēng)人類(lèi)突變，本刊主要出版、報(bào)道醫(yī)學(xué)-GENETICS & HEREDITY領(lǐng)域的研究動(dòng)態(tài)以及在該領(lǐng)域取得的各方面的經(jīng)驗(yàn)和科研成果，介紹該領(lǐng)域有關(guān)本專(zhuān)業(yè)的最新進(jìn)展，探討行業(yè)發(fā)展的思路和方法，以促進(jìn)學(xué)術(shù)信息交流，提高行業(yè)發(fā)展。該刊已被國(guó)際權(quán)威數(shù)據(jù)庫(kù)SCIE收錄，為該領(lǐng)域相關(guān)學(xué)科的發(fā)展起到了良好的推動(dòng)作用，也得到了本專(zhuān)業(yè)人員的廣泛認(rèn)可。該刊最新影響因子為3.3，最新CiteScore 指數(shù)為8.4。

本刊近期中國(guó)學(xué)者發(fā)表的論文主要有：

• 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.