Human Mutation

杂志介绍

Human Mutation杂志介绍

《Human Mutation》是一本以English为主的未开放获取国际优秀期刊，中文名称人类突变，本刊主要出版、报道医学-GENETICS & HEREDITY领域的研究动态以及在该领域取得的各方面的经验和科研成果，介绍该领域有关本专业的最新进展，探讨行业发展的思路和方法，以促进学术信息交流，提高行业发展。该刊已被国际权威数据库SCIE收录，为该领域相关学科的发展起到了良好的推动作用，也得到了本专业人员的广泛认可。该刊最新影响因子为3.3，最新CiteScore 指数为8.4。

本刊近期中国学者发表的论文主要有：

• 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.

英文介绍

Human Mutation杂志英文介绍

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.