J MED GENET
| 中国学者近期发表的论文 | |
|---|---|
| 1. | Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. Author: Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ. Journal: J Med Genet. 2012 Dec;49(12):727-30. doi: 10.1136/jmedgenet-2012-101134. Epub 2012 Oct 25. |
| 2. | Epigenetic state and expression of imprinted genes in umbilical cord correlates with growth parameters in human pregnancy. Author: Lim AL, Ng S, Leow SC, Choo R, Ito M, Chan YH, Goh SK, Tng E, Kwek K, Chong YS, Gluckman PD, Ferguson-Smith AC. Journal: J Med Genet. 2012 Nov;49(11):689-97. doi: 10.1136/jmedgenet-2012-100858. Epub 2012 Oct 5. |
| 3. | Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. Author: Guo BR, Zhang X, Chen G, Zhang JG, Sun LD, Du WD, Zhang Q, Cui Y, Zhu J, Tang XF, Xiao R, Liu Y, Li M, Tang HY, Yang X, Cheng H, Li M, Gao M, Li P, Wang JB, Xu FP, Zuo XB, Zheng XD, Zhang XG, Yang L, Liu JJ, Wang J, Yang S, Zhang XJ. Journal: J Med Genet. 2012 Sep;49(9):563-8. doi: 10.1136/jmedgenet-2012-100868. |
| 4. | The Human Variome Project Beijing meeting. Author: Smith TD, Robinson HM, Cotton RG. Journal: J Med Genet. 2012 Apr;49(4):284-9. doi: 10.1136/jmedgenet-2012-100862. |
| 5. | Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome. Author: Li T, Zhao H, Zhao X, Zhang B, Cui L, Shi Y, Li G, Wang P, Chen ZJ. Journal: J Med Genet. 2012 Apr;49(4):254-7. doi: 10.1136/jmedgenet-2011-100727. |
| 6. | Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. Author: Liu Q, Qi Z, Wan XH, Li JY, Shi L, Lu Q, Zhou XQ, Qiao L, Wu LW, Liu XQ, Yang W, Liu Y, Cui LY, Zhang X. Journal: J Med Genet. 2012 Feb;49(2):79-82. doi: 10.1136/jmedgenet-2011-100653. Epub 2011 Dec 29. |
| 7. | Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. Author: Li J, Zhu X, Wang X, Sun W, Feng B, Du T, Sun B, Niu F, Wei H, Wu X, Dong L, Li L, Cai X, Wang Y, Liu Y. Journal: J Med Genet. 2012 Feb;49(2):76-8. doi: 10.1136/jmedgenet-2011-100635. Epub 2011 Nov 30. |
| 8. | Complex clonal mosaicism within microdissected intestinal metaplastic glands without concurrent gastric cancer. Author: Guo Y, Huang A, Hu C, Zhou Y, Zhang X, Czajkowsky DM, Li J, Cheng S, Shen R, Gu J, Liu B, Shao Z. Journal: J Med Genet. 2016 Jun 9. pii: jmedgenet-2016-103872. doi: 10.1136/jmedgenet-2016-103872. [Epub ahead of print] |
| 9. | Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos. Author: Feng R, Yan Z, Li B, Yu M, Sang Q, Tian G, Xu Y, Chen B, Qu R, Sun Z, Sun X, Jin L, He L, Kuang Y, Cowan NJ, Wang L. Journal: J Med Genet. 2016 Jun 6. pii: jmedgenet-2016-103891. doi: 10.1136/jmedgenet-2016-103891. [Epub ahead of print] |
| 10. | A splicing mutation in VPS4B causes dentin dysplasia I. Author: Yang Q, Chen D, Xiong F, Chen D, Liu C, Liu Y, Yu Q, Xiong J, Liu J, Li K, Zhao L, Ye Y, Zhou H, Hu L, Tian Z, Shang X, Zhang L, Wei X, Zhou W, Li D, Zhang W, Xu X. Journal: J Med Genet. 2016 May 31. pii: jmedgenet-2015-103619. doi: 10.1136/jmedgenet-2015-103619. [Epub ahead of print] |
| 同类著名期刊名称 | 影响因子 |
|---|---|
| NATURE REVIEWS GENETICS | 38.075 |
| NATURE GENETICS | 35.532 |
| Annual Review of Genetics | 22.233 |
| Annual Review of Genomics and Human Genetics | 14.829 |
| AMERICAN JOURNAL OF HUMAN GENETICS | 10.603 |
| TRENDS IN GENETICS | 10.064 |
| PLoS Genetics | 8.694 |
| HUMAN MUTATION | 5.686 |
| DNA RESEARCH | 5.164 |
| HUMAN GENETICS | 5.069 |