雜志介紹

Human Genetics雜志介紹

《Human Genetics》是一本以English為主的未開放獲取國際優(yōu)秀期刊，中文名稱人類遺傳學(xué)，本刊主要出版、報道生物學(xué)-GENETICS & HEREDITY領(lǐng)域的研究動態(tài)以及在該領(lǐng)域取得的各方面的經(jīng)驗和科研成果，介紹該領(lǐng)域有關(guān)本專業(yè)的最新進展，探討行業(yè)發(fā)展的思路和方法，以促進學(xué)術(shù)信息交流，提高行業(yè)發(fā)展。該刊已被國際權(quán)威數(shù)據(jù)庫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作用，也得到了本專業(yè)人員的廣泛認可。該刊最新影響因子為3.8，最新CiteScore 指數(shù)為10.8。

本刊近期中國學(xué)者發(fā)表的論文主要有：

• Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

  Author: Xiang, Jiale; Sun, Xiangzhong; Song, Nana; Ramaswamy, Sathishkumar; Abou Tayoun, Ahmad N.; Peng, Zhiyu

• Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation

  Author: Liu, Zhenlei; Du, Huakang; Zhao, Hengqiang; Cai, Siyi; Zhao, Sen; Niu, Yuchen; Li, Xiaoxin; Liu, Bowen; Huang, Yingzhao; Shao, Jiashen; Liu, Lian; Tian, Ye; Wu, Zhihong; Wu, Hao; Hu, Yue; Zhang, Terry Jianguo; Jian, Fengzeng; Wu, Nan

• Truncation mutations in MYRF underlie primary angle closure glaucoma

  Author: Ouyang, Jiamin; Sun, Wenmin; Shen, Huangxuan; Liu, Xing; Wu, Yingchen; Jiang, Hongmei; Li, Xueqing; Wang, Yingwei; Jiang, Yi; Li, Shiqiang; Xiao, Xueshan; Hejtmancik, J. Fielding; Tan, Zhiqun; Zhang, Qingjiong

• Common genetic risk factors in ASD and ADHD co-occurring families

  Author: Zhou, Anbo; Cao, Xiaolong; Mahaganapathy, Vaidhyanathan; Azaro, Marco; Gwin, Christine; Wilson, Sherri; Buyske, Steven; Bartlett, Christopher W.; Flax, Judy F.; Brzustowicz, Linda M.; Xing, Jinchuan

英文介紹

Human Genetics雜志英文介紹

Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology.

Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted.

The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.