雜志介紹

American Journal Of Medical Genetics Part A雜志介紹

《American Journal Of Medical Genetics Part A》是一本以English為主的未開放獲取國際優秀期刊，中文名稱美國醫學遺傳學雜志 A 部分，本刊主要出版、報道生物學-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1.7，最新CiteScore 指數為3.5。

本刊近期中國學者發表的論文主要有：

• Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review

  Author: He, Peiqing; Wang, Qingming; Hong, Xiaochun; Yuan, Haiming

• Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss

  Author: Wang, Qiuquan; Wu, Jie; Yang, Jinyuan; Huang, Shasha; Yuan, Yongyi; Dai, Pu

• Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy

  Author: Chong, Shuk Ching; Cao, Ye; Fung, Eva L. W.; Kleppe, Soledad; Gripp, Karen W.; Hertecant, Jozef; El-Hattab, Ayman W.; Suleiman, Jehan; Clark, Gary; von Allmen, Gretchen; Rodziyevska, Olga; Lewis, Richard A.; Rosenfeld, Jill A.; Dong, Jie; Wang, Xia; Miller, Marcus J.; Bi, Weimin; Liu, Pengfei; Scaglia, Fernando

• A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

  Author: Kolvenbach, Caroline M.; Zheng, Bixia; Merz, Lea M.; Mertens, Nils D.; Mansour, Bshara; Wang, Chunyan; Seltzsam, Steve; Schneider, Sophia; Schierbaum, Luca; Pantel, Dalia; Chen, Jing; van Der Ven, Amelie T.; Bello, Jibril O.; Shril, Shirlee; Hildebrandt, Friedhelm

英文介紹

American Journal Of Medical Genetics Part A雜志英文介紹

The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:

Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.

Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .