PubRank

Qingjiong Zhang

Author PubWeight™ 83.01‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 2004 2.13
2 Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci 2005 1.94
3 Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1. J Hum Genet 2012 1.38
4 A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci 2005 1.34
5 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS One 2011 1.33
6 Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation. Am J Hum Genet 2008 1.29
7 Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. Biochem Biophys Res Commun 2011 1.26
8 Functions of the intermediate filament cytoskeleton in the eye lens. J Clin Invest 2009 1.26
9 Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population. Am J Hum Genet 2011 1.23
10 Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China. Mol Vis 2009 1.16
11 Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Hum Genet 2014 1.13
12 Mutation analysis of 12 genes in Chinese families with congenital cataracts. Mol Vis 2011 1.10
13 Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy. J Hum Genet 2006 1.06
14 Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. Mol Vis 2008 1.04
15 High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes. Invest Ophthalmol Vis Sci 2008 1.02
16 Novel SOX2 mutation associated with ocular coloboma in a Chinese family. Arch Ophthalmol 2008 1.02
17 Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma. Mol Vis 2009 1.01
18 Replication study supports CTNND2 as a susceptibility gene for high myopia. Invest Ophthalmol Vis Sci 2011 1.01
19 Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Invest Ophthalmol Vis Sci 2005 1.00
20 Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia. Mol Vis 2009 0.98
21 Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. Am J Med Genet A 2009 0.98
22 Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. Mol Vis 2006 0.97
23 Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes. Mol Vis 2011 0.96
24 Protective effects of tetramethylpyrazine on rat retinal cell cultures. Neurochem Int 2007 0.96
25 Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients. PLoS One 2011 0.96
26 Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa. Biochem Biophys Res Commun 2010 0.96
27 Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A. Mutat Res 2008 0.96
28 The de-ubiquitinylating enzyme, USP2, is associated with the circadian clockwork and regulates its sensitivity to light. PLoS One 2011 0.96
29 Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP. Mol Vis 2011 0.94
30 KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1. Int J Mol Med 2011 0.93
31 A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. Mol Vis 2011 0.92
32 Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia. Mol Vis 2010 0.92
33 Novel mutations of the PAX6 gene identified in Chinese patients with aniridia. Mol Vis 2006 0.92
34 CRX variants in cone-rod dystrophy and mutation overview. Biochem Biophys Res Commun 2012 0.92
35 Insights into the beaded filament of the eye lens. Exp Cell Res 2007 0.91
36 Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 2013 0.91
37 Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy. Mol Vis 2012 0.91
38 CSNB1 in Chinese families associated with novel mutations in NYX. J Hum Genet 2006 0.91
39 Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. Ophthalmic Genet 2011 0.90
40 Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. Mol Vis 2009 0.90
41 Linkage analysis of two families with X-linked recessive congenital motor nystagmus. J Hum Genet 2005 0.89
42 Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration. Mol Med Rep 2012 0.89
43 Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. Curr Eye Res 2012 0.89
44 Evaluation of MFRP as a candidate gene for high hyperopia. Mol Vis 2009 0.88
45 Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. Neurogenetics 2010 0.87
46 Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C. PLoS One 2010 0.87
47 Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese. Mol Vis 2010 0.87
48 Evaluation of EGR1 as a candidate gene for high myopia. Mol Vis 2008 0.86
49 Sequence variations of GRM6 in patients with high myopia. Mol Vis 2009 0.86
50 No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A. Hum Genet 2010 0.86
51 Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 2008 0.85
52 Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One 2013 0.85
53 The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations. Biochem Biophys Res Commun 2010 0.85
54 Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One 2013 0.85
55 Replication study of significant single nucleotide polymorphisms associated with myopia from two genome-wide association studies. Mol Vis 2011 0.85
56 A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly. Mol Vis 2010 0.85
57 Mutational screening of six genes in Chinese patients with congenital cataract and microcornea. Mol Vis 2011 0.84
58 PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. Mol Vis 2010 0.84
59 Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese. Biochem Biophys Res Commun 2009 0.84
60 Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation. Graefes Arch Clin Exp Ophthalmol 2007 0.83
61 Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes. Invest Ophthalmol Vis Sci 2015 0.83
62 Mutation spectrum of PAX6 in Chinese patients with aniridia. Mol Vis 2011 0.82
63 mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population. Biochem Biophys Res Commun 2010 0.82
64 PAX6 mutations identified in 4 of 35 families with microcornea. Invest Ophthalmol Vis Sci 2012 0.81
65 Novel RS1 mutations associated with X-linked juvenile retinoschisis. Int J Mol Med 2012 0.81
66 Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia. Mol Vis 2012 0.81
67 A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692. Hum Genet 2011 0.80
68 mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation. Biochem Biophys Res Commun 2007 0.80
69 DNA methyltransferase inhibitor CDA-II inhibits myogenic differentiation. Biochem Biophys Res Commun 2012 0.80
70 FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Mol Vis 2007 0.80
71 Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. Mol Vis 2013 0.79
72 Nonsyndromic high myopia in a Chinese family mapped to MYP1: linkage confirmation and phenotypic characterization. Arch Ophthalmol 2010 0.79
73 Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1. J Hum Genet 2006 0.79
74 Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy. Neurosci Lett 2013 0.79
75 Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. Curr Eye Res 2010 0.79
76 Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness. Int J Mol Med 2012 0.79
77 Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Mol Med Rep 2013 0.78
78 Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients. J Transl Med 2012 0.78
79 Identification and characterization of novel alternative splice variants of human SAMD11. Gene 2013 0.78
80 High myopia is not associated with single nucleotide polymorphisms in the COL2A1 gene in the Chinese population. Mol Med Rep 2011 0.78
81 Common variants in chromosome 4q25 are associated with myopia in Chinese adults. Ophthalmic Physiol Opt 2012 0.78
82 Abnormal expression of seven myogenesis-related genes in extraocular muscles of patients with concomitant strabismus. Mol Med Rep 2012 0.77
83 Cone-rod dysfunction is a sign of early-onset high myopia. Optom Vis Sci 2013 0.77
84 [Pharmacokinetics of puerarin in the aqueous humor and vitreous of rabbit eye following systemic administration]. Yan Ke Xue Bao 2006 0.76
85 Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A? PLoS One 2011 0.76
86 Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma. Mol Vis 2013 0.76
87 Overexpression of Six1 leads to retardation of myogenic differentiation in C2C12 myoblasts. Mol Biol Rep 2012 0.76
88 An evaluation of OPTC and EPYC as candidate genes for high myopia. Mol Vis 2009 0.76
89 Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations. Mol Vis 2011 0.75
90 Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy. Mol Vis 2012 0.75
91 [Transcription changes of alpha A-crystallins gene during the development of retinal degeneration in Rd, Rds and C3H mouse]. Yan Ke Xue Bao 2002 0.75
92 Identification of MFRP Mutations in Chinese Families with High Hyperopia. Optom Vis Sci 2016 0.75