European Journal Of Human Genetics

雜志介紹

European Journal Of Human Genetics雜志介紹

《European Journal Of Human Genetics》是一本以English為主的未開放獲取國際優秀期刊，中文名稱歐洲人類遺傳學雜志，本刊主要出版、報道生物學-BIOCHEMISTRY & MOLECULAR BIOLOGY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3.7，最新CiteScore 指數為9.9。

本刊近期中國學者發表的論文主要有：

• ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies

  Author: Glessner, Joseph T.; Li, Jin; Liu, Yichuan; Khan, Munir; Chang, Xiao; Sleiman, Patrick M. A.; Hakonarson, Hakon

• Genetic prediction of male pattern baldness based on large independent datasets

  Author: Chen, Yan; Hysi, Pirro; Maj, Carlo; Heilmann-Heimbach, Stefanie; Spector, Timothy D.; Liu, Fan; Kayser, Manfred

• A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations

  Author: Dai, Weiqian; Sun, Yu; Fan, Yanjie; Gao, Yan; Zhan, Yongkun; Wang, Lili; Xiao, Bing; Qiu, Wenjuan; Gu, Xuefan; Sun, Kun; Yu, Yongguo; Xu, Na

• Linear isoforms of the long noncoding RNA CDKN2B-AS1 regulate the c-myc-enhancer binding factor RBMS1.

  Author: Hubberten M¹, Bochenek G², Chen H^1,3, H?sler R⁴, Wiehe R¹, Rosenstiel P⁴, Jepsen S², Dommisch H¹, Schaefer AS⁵.

英文介紹

European Journal Of Human Genetics雜志英文介紹

The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.

Key areas include:

-Monogenic and multifactorial disorders

-Development and malformation

-Hereditary cancer

-Medical Genomics

-Gene mapping and functional studies

-Genotype-phenotype correlations

-Genetic variation and genome diversity

-Statistical and computational genetics

-Bioinformatics

-Advances in diagnostics

-Therapy and prevention

-Animal models

-Genetic services

-Community genetics