中国学者近期发表的论文
1.	A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family Author: Lijian Xie, Cuilan Hou, Xunwei Jiang, Jian Zhao, Yun Li, Tingting Xiao Journal: European Journal of Medical Genetics, 2019, Vol., , DOI:10.1016/j.ejmg.2019.01.018    DOI
2.	Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy Author: Kun Li, Runming Jin, Xiaoyan Wu Journal: European Journal of Medical Genetics, 2019, Vol., , DOI:10.1016/j.ejmg.2019.01.013    DOI
3.	Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder Author: Qingming Wang, Xiaoling Huang, Yanhui Liu, Qian Peng, Yuqiong Zhang, Jianxin Liu, Haiming Yuan Journal: European Journal of Medical Genetics, 2019, Vol., , DOI:10.1016/j.ejmg.2019.01.001    DOI
4.	A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia Author: Cui Song, Niu Li, Xuyun Hu, Yu Shi, Lili Chen, Ting Zhou, Xuejiao Xu, Jun Shen, Min Zhu Journal: European Journal of Medical Genetics, 2018, Vol., , DOI:10.1016/j.ejmg.2018.11.009    DOI
5.	A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2 Author: Dongxiao Li, Hui Dong, Hong Zheng, Jinqing Song, Xiyuan Li, Ying Jin, Yupeng Liu, Yanling Yang Journal: European Journal of Medical Genetics, 2017, Vol.60, 685-689, DOI:10.1016/j.ejmg.2017.09.003    DOI
6.	Pachydermoperiostosis of the complete type: A novel missense mutation c.101T > C in the SLCO2A1 gene Author: Wenbin Ma, Shuqin Guo, Yan Li, Zhihong Li Journal: European Journal of Medical Genetics, 2017, Vol.60, 433-436, DOI:10.1016/j.ejmg.2017.06.001    DOI
7.	Identification of a novel and functional mutation in the TBX5 gene in a patient by screening from 354 patients with isolated ventricular septal defect Author: Huan-Xin Chen, Xi Zhang, Hai-Tao Hou, Jun Wang, Qin Yang, Xiu-Li Wang, Guo-Wei He Journal: European Journal of Medical Genetics, 2017, Vol.60, 385-390, DOI:10.1016/j.ejmg.2017.04.011    DOI
8.	Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia Author: Weiqing Wu, Yang Liu, Qinghua Zhou, Qin Wang, Fuwei Luo, Zhiyong Xu, Qian Geng, Peining Li, Hui Z. Zhang, Jiansheng Xie Journal: European Journal of Medical Genetics, 2017, Vol.60, 369-373, DOI:10.1016/j.ejmg.2017.04.008    DOI
9.	Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility Author: Junjie Zheng, Jiangfeng Mao, Mingxuan Cui, Zhaoxiang Liu, Xi Wang, Shuyu Xiong, Min Nie, Xueyan Wu Journal: European Journal of Medical Genetics, 2017, Vol.60, 335-339, DOI:10.1016/j.ejmg.2017.04.004    DOI
10.	Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome Author: Annie T.G. Chiu, Lixing Zhu, Gary T.K. Mok, Gordon K.C. Leung, C.B. Chow, Brian H.Y. Chung Journal: European Journal of Medical Genetics, 2016, Vol.59, 573-576, DOI:10.1016/j.ejmg.2016.10.001    DOI

同类著名期刊名称 h-index CiteScore NATURE REVIEWS GENETICS 320 16.63 NATURE GENETICS 527 19.88 TRENDS IN GENETICS 208 8.34 Annual Review of Genetics 171 10.11 AMERICAN JOURNAL OF HUMAN GENETICS 280 8.64 GENETICS IN MEDICINE 111 8.26 Annual Review of Genomics and Human Genetics 104 9.15 AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 93 4.71 HUMAN GENETICS 126 4.34 PLoS Genetics 194 5.00

中科院JCR同大类学科的热搜期刊 浏览次数 MEDICINE 290410 CANCER RESEARCH 164018 International Journal of Nanomedicine 162554 Molecular Medicine Reports 162492 CANCER LETTERS 157599 JOURNAL OF ETHNOPHARMACOLOGY 139526 BIOMEDICINE & PHARMACOTHERAPY 137672 EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY 134140 Theranostics 133492 International Journal of Environmental Research and Public Health 131767