Molecular Genetics & Genomic Medicine

雜志介紹

Molecular Genetics & Genomic Medicine雜志介紹

《Molecular Genetics & Genomic Medicine》是一本以English為主的開放獲取國際優秀期刊，中文名稱分子遺傳學和基因組醫學，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1.5，最新CiteScore 指數為4.2。

本刊近期中國學者發表的論文主要有：

• The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review

  Author: Wu, Wenyong; Chen, Ruimin

• A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy

  Author: Zhong, Junwei; Shi, Jie; Zhang, Xiaotian; Xu, Ke; Zhang, Xiaohui; Xie, Yue; Li, Yang

• Association of demographic and clinical factors with risk of acute pancreatitis: An exposure-wide Mendelian randomization study

  Author: Tang, Qiu-Yi; Yang, Qi; Yu, Xian-Qiang; Liu, Yu-Xiu; Tong, Zhi-Hui; Li, Bai-Qiang; Chen, Ya-Ting; Yu, Evan Yi-Wen; Li, Wei-Qin

• Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome

  Author: Li, Shan; Yu, Shunan; Zhang, Yanzhuo; Wang, Ying; Jiang, Xu; Wu, Chengai

英文介紹

Molecular Genetics & Genomic Medicine雜志英文介紹

Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.

Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.