中国学者近期发表的论文
1.	Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation. Author: Han M1, Zhao M1, Cheng C1, Huang Y2, Han S3, Li W1, Tu X1, Luo X1, Yu X1, Liu Y1, Chen Q4,5, Ren X1, Wang QK1,4,5, Ke T1. Journal: Hum Mutat. 2019 Mar;40(3):310-325. doi: 10.1002/humu.23691. Epub 2018 Dec 8.    PubMed      DOI
2.	A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy. Author: Chen X1,2, Jin J1,3, Wang Q1,4, Xue H1,3, Zhang N1, Du Y1,5, Zhang T1, Zhang B1, Wu J1, Liu Z1. Journal: Hum Mutat. 2019 Mar;40(3):281-287. doi: 10.1002/humu.23690. Epub 2018 Dec 8.    PubMed      DOI
3.	A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. Author: Sun M1, Chen C1, Hou S2, Li X1, Wang H3, Zhou J1, Chen X1, Liu P1, Kijlstra A4, Lin S1, Ye J1. Journal: Hum Mutat. 2019 Apr;40(4):380-391. doi: 10.1002/humu.23696. Epub 2019 Jan 23.    PubMed      DOI
4.	Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification. Author: Guo XX1, Zou XH1, Wang C1, Yao XP1, Su HZ1, Lai LL1, Chen HT2, Lai JH3, Liu YB4, Chen DP5, Deng YC6, Lin P7, Lin HS8, Hong BC9, Yao QY9, Chen XJ10, Huang DQ11, Fu HX12, Peng JD13, Niu YF14, Zhao YY15, Zhu XQ16, Lu XP17, Lin HL18, Li YK19, Liu CY20, Huang GB21, Wang N1,22, Chen WJ1,22. Journal: Hum Mutat. 2019 Apr;40(4):392-403. doi: 10.1002/humu.23703. Epub 2019 Jan 15.    PubMed      DOI
5.	UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases. Author: Wang Q1, Su G1, Tan X1, Deng J1, Du L1, Huang X1, Lv M1, Yi S1, Hou S1, Kijlstra A2, Yang P1. Journal: Hum Mutat. 2019 Mar;40(3):258-266. doi: 10.1002/humu.23702. Epub 2019 Jan 16.    PubMed      DOI
6.	Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants. Author: Li X1,2,3, Zhang W4,2,3, Zhou D1,2,3, Lv T1,2,3, Xu A1,2,3, Wang H1,2,3, Zhao X4,2,3, Zhang B1,2,3, Li Y1,2,3, Jia S1,2,3, Wang Y4,2,3, Wang X4,2,3, Wu Z4,2,3, Duan W4,2,3, Wang Q4,2,3, Nan Y5, Shang J6, Jiang W7, Chen Y8, Zheng S9, Liu M9, Sun L10, You H1,4,2,3, Jia J4,2,3, Ou X4,2,3, Huang J1,4,2,3. Journal: Hum Mutat. 2019 May;40(5):552-565. doi: 10.1002/humu.23714. Epub 2019 Feb 14.    PubMed      DOI
7.	Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. Author: Li L1, Mao B1, Li S1, Xiao J1, Wang H1, Zhang J1, Ren X2, Wang Y3, Wu Y1, Cao Y1, Lu C1, Gao J4, You Y1, Zhao F1, Geng X1, Xiao Y1, Jiang C1, Ye Y1, Yang T1, Zhao X1, Zhang X1. Journal: Hum Mutat. 2019 May;40(5):588-600. doi: 10.1002/humu.23718. Epub 2019 Feb 25.    PubMed      DOI
8.	Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. Author: Zhou WZ1,2, Zhang J1, Li Z1, Lin X3, Li J1, Wang S3,4, Yang C3,5, Wu Q6, Ye AY1,7,8, Wang M1, Wang D3, Pu TZ9, Wu YY10, Wei L1. Journal: Hum Mutat. 2019 Jun;40(6):801-815. doi: 10.1002/humu.23724. Epub 2019 Apr 29.    PubMed      DOI
9.	SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Author: Ng BG1, Sosicka P1, Agadi S2, Almannai M2, Bacino CA2,3, Barone R4,5, Botto LD6, Burton JE7, Carlston C8, Chung BH9, Cohen JS10, Coman D11,12, Dipple KM13,14,15, Dorrani N16, Dobyns WB17,18, Elias AF19, Epstein L20, Gahl WA21,22, Garozzo D5, Hammer TB23, Haven J19, Héron D24, Herzog M15, Hoganson GE7, Hunter JM25, Jain M10, Juusola J26, Lakhani S27, Lee H15,28, Lee J29,30, Lewis K11, Longo N6, Lourenço CM31, Mak CCY9, McKnight D26, Mendelsohn BA32, Mignot C24, Mirzaa G17,18, Mitchell W33,34, Muhle H35, Nelson SF15,28,36, Olczak M37, Palmer CGS15,36,38, Partikian A39, Patterson MC40, Pierson TM41,42,43, Quinonez SC44, Regan BM45, Ross ME27, Guillen Sacoto MJ26, Scaglia F2,3,46, Scheffer IE45,47, Segal D27,48, Singhal NS49, Striano P50, Sturiale L5, Symonds JD51, Tang S25, Vilain E52, Willis M53, Wolfe LA21,22, Yang H26, Yano S54, Powis Z25, Suchy SF25, Rosenfeld JA26, Edmondson AC2, Grunewald S55, Freeze HH56. Journal: Hum Mutat. 2019 Feb 28. doi: 10.1002/humu.23731. [Epub ahead of print]    PubMed      DOI
10.	Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling. Author: Li W1, Tan L2, Li X2, Zhang X1, Wu X2, Chen H2, Hu L3, Wang X3, Luo X4, Wang F5,6,7, Xu C1, Chen Q5,6,7, Jin R2, Wang QK1,5,6,7. Journal: Hum Mutat. 2019 Mar 28. doi: 10.1002/humu.23743. [Epub ahead of print]    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 MEDICINE 292312 CANCER RESEARCH 164217 International Journal of Nanomedicine 162774 Molecular Medicine Reports 162732 CANCER LETTERS 157811 JOURNAL OF ETHNOPHARMACOLOGY 139757 BIOMEDICINE & PHARMACOTHERAPY 138059 EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY 134373 Theranostics 133729 International Journal of Environmental Research and Public Health 131941