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

同类著名期刊名称 h-index CiteScore NATURE REVIEWS GENETICS 320 16.63 NATURE GENETICS 527 19.88 TRENDS IN GENETICS 208 8.34 Annual Review of Genetics 171 10.11 AMERICAN JOURNAL OF HUMAN GENETICS 280 8.64 GENETICS IN MEDICINE 111 8.26 Annual Review of Genomics and Human Genetics 104 9.15 AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 93 4.71 HUMAN GENETICS 126 4.34 PLoS Genetics 194 5.00

中科院JCR同大类学科的热搜期刊 浏览次数 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 376006 Frontiers in Plant Science 282869 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 279734 Frontiers in Microbiology 265106 JOURNAL OF BIOLOGICAL CHEMISTRY 212432 BMC GENOMICS 197954 APPLIED AND ENVIRONMENTAL MICROBIOLOGY 185185 PeerJ 174570 Biomed Research International 172989 JOURNAL OF EXPERIMENTAL BOTANY 162908