雜志介紹

Genetics In Medicine雜志介紹

《Genetics In Medicine》是一本以English為主的未開放獲取國際優(yōu)秀期刊，中文名稱醫(yī)學遺傳學，本刊主要出版、報道醫(yī)學-GENETICS & HEREDITY領域的研究動態(tài)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(yè)的最新進展，探討行業(yè)發(fā)展的思路和方法，以促進學術信息交流，提高行業(yè)發(fā)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(fā)展起到了良好的推動作用，也得到了本專業(yè)人員的廣泛認可。該刊最新影響因子為6.6，最新CiteScore 指數為15.2。

本刊近期中國學者發(fā)表的論文主要有：

• 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.

英文介紹

Genetics In Medicine雜志英文介紹

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.