Genetics In Medicine

杂志介绍

Genetics In Medicine杂志介绍

《Genetics In Medicine》是一本以English为主的未开放获取国际优秀期刊，中文名称医学遗传学，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6.6，最新CiteScore 指数为15.2。

本刊近期中国学者发表的论文主要有：

• Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

  Author: Miyake, Christina Y.; Lay, Erica J.; Soler-Alfonso, Claudia; Glinton, Kevin E.; Houck, Kimberly M.; Tosur, Mustafa; Moran, Nancy E.; Stephens, Sara B.; Scaglia, Fernando; Howard, Taylor S.; Kim, Jeffrey J.; Pham, Tam Dam; Valdes, Santiago O.; Li, Na; Murali, Chaya N.; Zhang, Lilei; Kava, Maina; Yim, Deane; Beach, Cheyenne; Webster, Gregory; Liberman, Leonardo; Janson, Christopher M.; Kannankeril, Prince J.; Baxter, Samantha; Singer-Berk, Moriel; Wood, Jordan; Mackenzie, Samuel J.; Sacher, Michael; Ghaloul-Gonzalez, Lina; Pedroza, Claudia; Morris, Shaine A.; Ehsan, Saad A.; Azamian, Mahshid S.; Lalani, Seema R.

• Clinical and genetic spectrum of a large cohort of children with epilepsy in China.

  Author: Yang L^1,2, Kong Y³, Dong X², Hu L³, Lin Y², Chen X³, Ni Q², Lu Y², Wu B², Wang H², Lu QR⁴, Zhou W^5,6,7.

• Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

  Author: Garbade SF¹, Shen N^1,2, Himmelreich N¹, Haas D¹, Trefz FK¹, Hoffmann GF¹, Burgard P³, Blau N^4,5.

• Correction: A homozygous FANCM frameshift pathogenic variant causes male infertility.

  Author: Yin H¹, Ma H¹, Hussain S¹, Zhang H¹, Xie X¹, Jiang L¹, Jiang X¹, Iqbal F¹, Bukhari I¹, Jiang H¹, Ali A¹, Zhong L¹, Li T¹, Fan S¹, Zhang B¹, Gao J¹, Li Y¹, Nazish J¹, Khan T¹, Khan M¹, Zubair M¹, Hao Q¹, Fang H¹, Huang J², Huleihel M³, Sha J⁴, Pandita TK⁵, Zhang Y⁶, Shi Q⁷.

英文介绍

Genetics In Medicine杂志英文介绍

Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal's mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. As genetics and genomics continue to increase in importance and relevance in medical practice, the journal will be an accessible and authoritative resource for the dissemination of medical genetic knowledge to all medical providers through appropriate original research, reviews, commentaries, standards, and guidelines. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.