American Journal Of Medical Genetics Part A

杂志介绍

American Journal Of Medical Genetics Part A杂志介绍

《American Journal Of Medical Genetics Part A》是一本以English为主的未开放获取国际优秀期刊，中文名称美国医学遗传学杂志 A 部分，本刊主要出版、报道生物学-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1.7，最新CiteScore 指数为3.5。

本刊近期中国学者发表的论文主要有：

• 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

英文介绍

American Journal Of Medical Genetics Part A杂志英文介绍

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 .