雜志介紹

Clinical Genetics雜志介紹

《Clinical Genetics》是一本以English為主的未開放獲取國際優秀期刊，中文名稱臨床遺傳學，本刊主要出版、報道醫學-GENETICS & HEREDITY領域的研究動態以及在該領域取得的各方面的經驗和科研成果，介紹該領域有關本專業的最新進展，探討行業發展的思路和方法，以促進學術信息交流，提高行業發展。該刊已被國際權威數據庫SCIE收錄，為該領域相關學科的發展起到了良好的推動作用，也得到了本專業人員的廣泛認可。該刊最新影響因子為2.9，最新CiteScore 指數為6.5。

本刊近期中國學者發表的論文主要有：

• Novel stop-gain RNF170 variation detected in a Chinese family with adolescent-onset hereditary spastic paraplegia

  Author: Fu, Jing-Xin; Wei, Qiao; Chen, Yu-Lan; Li, Hong-Fu

• Genetic overview of postaxial polydactyly: Updated classification

  Author: Ahmad, Zaheer; Liaqat, Romana; Palander, Oliva; Bilal, Muhammad; Zeb, Shah; Ahmad, Farooq; Khan, Muhammad Jawad; Umair, Muhammad

• Novel rare mutation in a conserved site of PTPRB causes human hypoplastic left heart syndrome

  Author: Jia, Yangying; Chen, Jianhai; Zhong, Jie; He, Xuefei; Zeng, Li; Wang, Yanmin; Li, Jiakun; Xia, Shengqian; Ye, Erdengqieqieke; Zhao, Jing; Ke, Bin; Li, Chunyu

• A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25

  Author: Mahmood, Arif; Samad, Abdus; Shah, Abid Ali; Wadood, Abdul; Alkathiri, Afnan; Alshehri, Mohammed Ali; Alam, Mohammad Zubair; Hussain, Taimur; He, Pei; Umair, Muhammad

英文介紹

Clinical Genetics雜志英文介紹

Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.

Topics of particular interest are:

? Linking genetic variations to disease

? Genome rearrangements and disease

? Epigenetics and disease

? The translation of genotype to phenotype

? Genetics of complex disease

? Management/intervention of genetic diseases

? Novel therapies for genetic diseases

? Developmental biology, as it relates to clinical genetics

? Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease