Molecular Genetics & Genomic Medicine

杂志介绍

Molecular Genetics & Genomic Medicine杂志介绍

《Molecular Genetics & Genomic Medicine》是一本以English为主的开放获取国际优秀期刊，中文名称分子遗传学和基因组医学，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1.5，最新CiteScore 指数为4.2。

本刊近期中国学者发表的论文主要有：

• 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

英文介绍

Molecular Genetics & Genomic Medicine杂志英文介绍

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.