PubRank

Zhengmao Hu

Author PubWeight™ 26.84‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. Arch Neurol 2005 1.59
2 Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. Hum Mol Genet 2006 1.48
3 Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. Mol Vis 2007 1.45
4 Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation. Acta Otolaryngol 2011 1.40
5 A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Mol Vis 2004 1.11
6 Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. Biochem Biophys Res Commun 2010 1.04
7 Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. PLoS One 2013 1.00
8 Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia. Neurosci Lett 2006 0.93
9 Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia. J Neurol Sci 2005 0.93
10 Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family. Hum Genet 2004 0.88
11 AMPD1 functional variants associated with autism in Han Chinese population. Eur Arch Psychiatry Clin Neurosci 2014 0.87
12 A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin. PLoS One 2013 0.86
13 Disruption of Contactin 4 in two subjects with autism in Chinese population. Gene 2012 0.85
14 Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population. Psychiatr Genet 2010 0.84
15 Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients. Mol Biol Rep 2014 0.83
16 No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population. Psychiatry Res 2011 0.82
17 Mutation analysis of the NRXN1 gene in a Chinese autism cohort. J Psychiatr Res 2012 0.81
18 Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa. Ophthalmic Genet 2013 0.80
19 [Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005 0.79
20 Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome. Biochem Biophys Res Commun 2011 0.78
21 Mutation detection in candidate genes for benign familial infantile seizures on a novel locus. Int J Neurosci 2010 0.78
22 [GJB2 (connexin 26) gene mutation screen in patients with nonsydromic hearing loss in Hunan]. Zhong Nan Da Xue Xue Bao Yi Xue Ban 2009 0.78
23 Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China. Mol Vis 2009 0.78
24 Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. J Med Case Rep 2013 0.78
25 Report of two FOP cases with 617G>A mutation in the ACVR1 gene from Chinese population. Clin Dysmorphol 2010 0.77
26 A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease. Mol Vis 2010 0.77
27 Common and rare variants of the THBS1 gene associated with the risk for autism. Psychiatr Genet 2014 0.77
28 A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family. Gene 2012 0.77
29 Genetics of autism spectrum disorders. Zhong Nan Da Xue Xue Bao Yi Xue Ban 2011 0.76
30 Overexpression of MicroRNA-27b Inhibits Proliferation, Migration, and Invasion via Suppression of MET Expression. Oncol Res 2017 0.75
31 Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. Zhong Nan Da Xue Xue Bao Yi Xue Ban 2013 0.75
32 [ATM gene mutations in Chinese patients with ataxia telangiectasia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005 0.75
33 Genetic screening for mutations in the Nrdp1 gene in Parkinson disease patients in a Chinese population. Parkinsonism Relat Disord 2009 0.75
34 Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family. J Dermatol 2014 0.75
35 [Association of NLRP3 gene single nucleotide polymorphisms with metabolic syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 0.75
36 Gene localization in a Chinese family with autosomal dominant non-syndromic deafness. Acta Otolaryngol 2011 0.75
37 A diagnostic gene chip for hereditary spastic paraplegias. Brain Res Bull 2013 0.75