| 缩写名/全名 |
J HUM GENET
JOURNAL OF HUMAN GENETICS |
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| ISSN号 | 1434-5161 | ||||||||||||||||||||
| 研究方向 | 生物-遗传学 | ||||||||||||||||||||
| 影响因子 | 2015:2.487, 2016:2.471, 2017:2.942, 2018:3.545, 2019:2.831, | ||||||||||||||||||||
| 出版国家 | JAPAN | ||||||||||||||||||||
| 出版周期 | Monthly | ||||||||||||||||||||
| 年文章数 | 141 | ||||||||||||||||||||
| 出版年份 | 1998 | ||||||||||||||||||||
| 是否OA | No | ||||||||||||||||||||
| 审稿周期(仅供参考) | 偏慢,4-8周 |
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| 录用比例 | 容易 | ||||||||||||||||||||
| 投稿链接 | http://mts-jhg.nature.com/cgi-bin/main.plex | ||||||||||||||||||||
| 投稿官网 | http://www.nature.com/jhg/index.html | ||||||||||||||||||||
| h-index | 75 | ||||||||||||||||||||
| CiteScore |
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| PubMed Central (PMC)链接 | http://www.ncbi.nlm.nih.gov/nlmcatalog?term=1434-5161%5BISSN%5D | ||||||||||||||||||||
| 中科院SCI期刊分区 （ 2018年新版本） |
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| 中科院SCI期刊分区 （ 2020年新版本） |
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| 中国学者近期发表的论文 | |
| 1. | Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus. Author: Zhang W1,2, Li D1,2, Wei S1,2, Guo T1, Wang J1, Luo H1, Yang Y1,2, Tan Z3,4. Journal: J Hum Genet. 2019 Mar;64(3):249-252. doi: 10.1038/s10038-018-0540-x. Epub 2018 Nov 30. PubMed DOI |
| 2. | Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope. Author: Fan LL1, Chen YQ2, Huang H1, Yuan ZZ1, Jin JY1, Hu M3, Xiang R4,5. Journal: J Hum Genet. 2019 Mar;64(3):233-238. doi: 10.1038/s10038-018-0549-1. Epub 2018 Dec 12. PubMed DOI |
| 3. | Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis. Author: Mohan KN1, Cao Y2,3, Pham J2, Cheung SW2, Hoffner L4, Ou ZZ4, Surti U4, Cook EH5, Beaudet AL2. Journal: J Hum Genet. 2019 Mar;64(3):253-255. doi: 10.1038/s10038-018-0543-7. Epub 2018 Dec 12. PubMed DOI |
| 4. | Correction: GNE myopathy in Chinese population: hotspot and novel mutations. Author: Chen Y1, Xi J1, Zhu W2, Lin J1, Luo S1, Yue D3, Cai S1, Sun C1, Zhao C1,3, Mitsuhashi S4,5, Nishino I4,5, Xu M6, Lu J1,7. Journal: J Hum Genet. 2019 Mar;64(3):269. doi: 10.1038/s10038-018-0547-3. PubMed DOI |
| 5. | Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. Author: Li M1, Xu Y1, Wang Y2, Yang XA3, Jin D4. Journal: J Hum Genet. 2019 Mar;64(3):265-268. doi: 10.1038/s10038-018-0552-6. Epub 2018 Dec 26. PubMed DOI |
| 6. | A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation. Author: Chen J1,2,3, Ma N4, Zhao X1, Li W1,2, Zhang Q1,2, Yuan S1, Tan YQ1,2, Lu G1,2, Lin G1,2, Du J5,6. Journal: J Hum Genet. 2019 Mar;64(3):207-214. doi: 10.1038/s10038-018-0550-8. Epub 2019 Jan 7. PubMed DOI |
| 7. | A novel mutation in VRK1 associated with distal spinal muscular atrophy. Author: Li N1, Wang L1, Sun X1, Lu Z1, Suo X2, Li J1, Peng J1, Peng R3. Journal: J Hum Genet. 2019 Mar;64(3):215-219. doi: 10.1038/s10038-018-0553-5. Epub 2019 Jan 7. PubMed DOI |
| 8. | Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations. Author: Liu Y1, Kang L1, Li D1, Jin Y1, Song J1, Li H2, Wang J3, Yang Y4. Journal: J Hum Genet. 2019 Apr;64(4):305-312. doi: 10.1038/s10038-018-0557-1. Epub 2019 Jan 16. PubMed DOI |
| 9. | Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome. Author: Lu M1,2, Zhou Y1, Wang Z1, Xia Z1, Ren J3, Guo Q4. Journal: J Hum Genet. 2019 Apr;64(4):297-304. doi: 10.1038/s10038-019-0563-y. Epub 2019 Jan 18. PubMed DOI |
| 10. | Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort. Author: Zhu MJ1, Ma XY1, Ding PC2, Tang HF3, Peng R4, Lu L4, Li PQ5, Qiao B6, Yang XY7, Zheng YF4, Wang HY4,8, Gao YQ9,10, Chen FS11. Journal: J Hum Genet. 2019 May;64(5):427-435. doi: 10.1038/s10038-019-0572-x. Epub 2019 Feb 13. PubMed DOI |
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